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.2222+73A>G
|
rs1800341
|
0.06356
|
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.3513+62C>T
|
rs34019730
|
0.05570
|
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.2504+161T>C
|
rs17233050
|
0.01083
|
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.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.115A>C (p.Arg39=)
|
rs17232091
|
0.00116
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
NM_000135.4(FANCA):c.237C>T (p.Asp79=)
|
rs144151341
|
0.00089
|
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.1537T>C (p.Leu513=)
|
rs144118098
|
0.00062
|
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.543G>A (p.Ala181=)
|
rs143314367
|
0.00035
|
NM_000135.4(FANCA):c.1827-19T>C
|
rs370677007
|
0.00034
|
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)
|
rs200603300
|
0.00031
|
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.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.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.1226-13G>C
|
rs377159744
|
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.3409-9C>G
|
rs368943794
|
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.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.1640C>T (p.Ala547Val)
|
rs550821697
|
0.00012
|
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.105T>C (p.Tyr35=)
|
rs747928827
|
0.00011
|
NM_000135.4(FANCA):c.1471-20G>A
|
rs374579239
|
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.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.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.3168C>T (p.Leu1056=)
|
rs377633991
|
0.00011
|
NM_000135.4(FANCA):c.709+20C>T
|
rs368328886
|
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.3348+12G>A
|
rs374973869
|
0.00010
|
NM_000135.4(FANCA):c.342C>T (p.Ala114=)
|
rs777989691
|
0.00010
|
NM_000135.4(FANCA):c.3711C>G (p.Val1237=)
|
rs776879032
|
0.00010
|
NM_000135.4(FANCA):c.634A>C (p.Arg212=)
|
rs754839730
|
0.00010
|
NM_000135.4(FANCA):c.924C>T (p.Gly308=)
|
rs143255238
|
0.00010
|
NM_000135.4(FANCA):c.1371G>T (p.Gly457=)
|
rs369988875
|
0.00009
|
NM_000135.4(FANCA):c.1567-6C>T
|
rs377706883
|
0.00009
|
NM_000135.4(FANCA):c.1771C>G (p.Arg591Gly)
|
rs753980264
|
0.00009
|
NM_000135.4(FANCA):c.1776+13C>T
|
rs371272310
|
0.00009
|
NM_000135.4(FANCA):c.189+12C>G
|
rs753101174
|
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.2376T>C (p.Gly792=)
|
rs756138062
|
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.3239+20G>C
|
rs755548646
|
0.00009
|
NM_000135.4(FANCA):c.3348+11C>T
|
rs367624518
|
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.3734A>G (p.Gln1245Arg)
|
rs542032916
|
0.00008
|
NM_000135.4(FANCA):c.679C>G (p.His227Asp)
|
rs142580507
|
0.00008
|
NM_000135.4(FANCA):c.709+9A>G
|
rs371624767
|
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.1225+14C>T
|
rs376558078
|
0.00007
|
NM_000135.4(FANCA):c.1332G>A (p.Ala444=)
|
rs377705748
|
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.2505-18T>C
|
rs750140062
|
0.00007
|
NM_000135.4(FANCA):c.265C>T (p.His89Tyr)
|
rs746125523
|
0.00007
|
NM_000135.4(FANCA):c.2820A>G (p.Gln940=)
|
rs776686639
|
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.303A>G (p.Gln101=)
|
rs199552612
|
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.3615G>A (p.Gln1205=)
|
rs368349576
|
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.918G>A (p.Thr306=)
|
rs199634699
|
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.1312G>A (p.Ala438Thr)
|
rs752587443
|
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.2778+83C>T
|
rs750997715
|
0.00006
|
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys)
|
rs142377616
|
0.00006
|
NM_000135.4(FANCA):c.3066+16C>T
|
rs199529426
|
0.00006
|
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys)
|
rs776603588
|
0.00006
|
NM_000135.4(FANCA):c.3279C>T (p.Ser1093=)
|
rs575863400
|
0.00006
|
NM_000135.4(FANCA):c.3348+17C>T
|
rs192934767
|
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.3626+16G>A
|
rs375826280
|
0.00006
|
NM_000135.4(FANCA):c.537T>G (p.Leu179=)
|
rs749811331
|
0.00006
|
NM_000135.4(FANCA):c.661A>G (p.Met221Val)
|
rs150924963
|
0.00006
|
NM_000135.4(FANCA):c.710-9G>A
|
rs772864817
|
0.00006
|
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro)
|
rs762721928
|
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.1359+16A>G
|
rs200016746
|
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.2316+9C>G
|
rs776301232
|
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.2779-11C>G
|
rs185392597
|
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.897C>T (p.Phe299=)
|
rs765341703
|
0.00005
|
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)
|
rs72552377
|
0.00005
|
NM_000135.4(FANCA):c.1007-6C>T
|
rs770125368
|
0.00004
|
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.1360-19C>T
|
rs766723015
|
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.1715+16G>A
|
rs752140435
|
0.00004
|
NM_000135.4(FANCA):c.1716-3C>T
|
rs760855591
|
0.00004
|
NM_000135.4(FANCA):c.1731T>G (p.Pro577=)
|
rs770851966
|
0.00004
|
NM_000135.4(FANCA):c.1777-13T>C
|
rs368496868
|
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.1887A>G (p.Glu629=)
|
rs769662954
|
0.00004
|
NM_000135.4(FANCA):c.189+5G>A
|
rs373907502
|
0.00004
|
NM_000135.4(FANCA):c.189+7G>A
|
rs369985388
|
0.00004
|
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp)
|
rs768520283
|
0.00004
|
NM_000135.4(FANCA):c.1929C>G (p.Pro643=)
|
rs1360940645
|
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.2088C>T (p.Ser696=)
|
rs150917432
|
0.00004
|
NM_000135.4(FANCA):c.2090T>C (p.Val697Ala)
|
rs777863668
|
0.00004
|
NM_000135.4(FANCA):c.2222+14C>T
|
rs368973617
|
0.00004
|
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp)
|
rs763187355
|
0.00004
|
NM_000135.4(FANCA):c.2277T>G (p.Pro759=)
|
rs370053960
|
0.00004
|
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln)
|
rs377442601
|
0.00004
|
NM_000135.4(FANCA):c.2371C>T (p.Leu791=)
|
rs541949982
|
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.2982-15G>A
|
rs55718325
|
0.00004
|
NM_000135.4(FANCA):c.2982-8C>G
|
rs781331325
|
0.00004
|
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
|
rs200022826
|
0.00004
|
NM_000135.4(FANCA):c.3226C>G (p.Leu1076Val)
|
rs368921238
|
0.00004
|
NM_000135.4(FANCA):c.3239+7C>T
|
rs775293779
|
0.00004
|
NM_000135.4(FANCA):c.3261G>A (p.Ser1087=)
|
rs139126509
|
0.00004
|
NM_000135.4(FANCA):c.3349-1G>A
|
rs769862233
|
0.00004
|
NM_000135.4(FANCA):c.3409-6C>T
|
rs377428227
|
0.00004
|
NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn)
|
rs375630115
|
0.00004
|
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)
|
rs762837582
|
0.00004
|
NM_000135.4(FANCA):c.3552G>A (p.Arg1184=)
|
rs774029286
|
0.00004
|
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=)
|
rs553086820
|
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.498C>T (p.Phe166=)
|
rs757941026
|
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.826+13C>G
|
rs34240625
|
0.00004
|
NM_000135.4(FANCA):c.827-6C>G
|
rs756991336
|
0.00004
|
NM_000135.4(FANCA):c.894-15C>T
|
rs753166995
|
0.00004
|
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)
|
rs764121307
|
0.00004
|
NM_000135.4(FANCA):c.957C>G (p.Phe319Leu)
|
rs17226068
|
0.00004
|
NM_000135.4(FANCA):c.984C>T (p.Leu328=)
|
rs907022035
|
0.00004
|
NM_000135.4(FANCA):c.1006+19C>A
|
rs371384565
|
0.00003
|
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.1072C>G (p.Leu358Val)
|
rs748337423
|
0.00003
|
NM_000135.4(FANCA):c.1084-8T>C
|
rs1466884693
|
0.00003
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
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.1543A>C (p.Lys515Gln)
|
rs1355805026
|
0.00003
|
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr)
|
rs752323052
|
0.00003
|
NM_000135.4(FANCA):c.1593C>T (p.Tyr531=)
|
rs762342197
|
0.00003
|
NM_000135.4(FANCA):c.1710G>A (p.Glu570=)
|
rs17226344
|
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.1901-9T>C
|
rs886052486
|
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.2014+12T>A
|
rs370998253
|
0.00003
|
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met)
|
rs777032467
|
0.00003
|
NM_000135.4(FANCA):c.2222+9G>C
|
rs774316742
|
0.00003
|
NM_000135.4(FANCA):c.2308C>T (p.Arg770Cys)
|
rs1354855145
|
0.00003
|
NM_000135.4(FANCA):c.2317-7G>A
|
rs763945801
|
0.00003
|
NM_000135.4(FANCA):c.2447C>T (p.Ala816Val)
|
rs756082739
|
0.00003
|
NM_000135.4(FANCA):c.2504+12T>C
|
rs1299971836
|
0.00003
|
NM_000135.4(FANCA):c.2847T>C (p.Thr949=)
|
rs570751234
|
0.00003
|
NM_000135.4(FANCA):c.2851C>A (p.Arg951=)
|
rs755546887
|
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.301C>G (p.Gln101Glu)
|
rs140412064
|
0.00003
|
NM_000135.4(FANCA):c.3024T>C (p.Phe1008=)
|
rs970239067
|
0.00003
|
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)
|
rs142379991
|
0.00003
|
NM_000135.4(FANCA):c.3240-4C>G
|
rs778933108
|
0.00003
|
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His)
|
rs752642945
|
0.00003
|
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)
|
rs779268656
|
0.00003
|
NM_000135.4(FANCA):c.3349-11C>A
|
rs1190325114
|
0.00003
|
NM_000135.4(FANCA):c.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.3514-17T>C
|
rs1183051961
|
0.00003
|
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)
|
rs759303096
|
0.00003
|
NM_000135.4(FANCA):c.361G>A (p.Val121Met)
|
rs780035612
|
0.00003
|
NM_000135.4(FANCA):c.3627-8T>G
|
rs77877981
|
0.00003
|
NM_000135.4(FANCA):c.3627-9C>T
|
rs547300201
|
0.00003
|
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=)
|
rs780031277
|
0.00003
|
NM_000135.4(FANCA):c.3699G>A (p.Ala1233=)
|
rs371798854
|
0.00003
|
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val)
|
rs750773229
|
0.00003
|
NM_000135.4(FANCA):c.385G>T (p.Ala129Ser)
|
rs374945563
|
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.522+9G>C
|
rs113051956
|
0.00003
|
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)
|
rs587778323
|
0.00003
|
NM_000135.4(FANCA):c.576C>T (p.Ser192=)
|
rs150448150
|
0.00003
|
NM_000135.4(FANCA):c.596+12A>G
|
rs377151927
|
0.00003
|
NM_000135.4(FANCA):c.793-10A>T
|
rs368979136
|
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.1100G>A (p.Ser367Asn)
|
rs764286584
|
0.00002
|
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe)
|
rs982286482
|
0.00002
|
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val)
|
rs748005916
|
0.00002
|
NM_000135.4(FANCA):c.1226-12G>C
|
rs36011345
|
0.00002
|
NM_000135.4(FANCA):c.1231G>A (p.Val411Met)
|
rs924067529
|
0.00002
|
NM_000135.4(FANCA):c.1236G>A (p.Ala412=)
|
rs371993688
|
0.00002
|
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)
|
rs780135578
|
0.00002
|
NM_000135.4(FANCA):c.1243A>G (p.Met415Val)
|
rs1438001164
|
0.00002
|
NM_000135.4(FANCA):c.1254A>G (p.Ala418=)
|
rs757442919
|
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.1359+13C>T
|
rs754740338
|
0.00002
|
NM_000135.4(FANCA):c.1471-17C>T
|
rs750970650
|
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.1557C>T (p.Ala519=)
|
rs765079866
|
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.1627-4C>A
|
rs201163548
|
0.00002
|
NM_000135.4(FANCA):c.1627-7G>A
|
rs1208978768
|
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.1716-19C>G
|
rs372263763
|
0.00002
|
NM_000135.4(FANCA):c.1717A>G (p.Ile573Val)
|
rs775255736
|
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.1822A>G (p.Lys608Glu)
|
rs938278864
|
0.00002
|
NM_000135.4(FANCA):c.189+4A>G
|
rs374822922
|
0.00002
|
NM_000135.4(FANCA):c.1896A>G (p.Pro632=)
|
rs776251919
|
0.00002
|
NM_000135.4(FANCA):c.190-20T>C
|
rs755351504
|
0.00002
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00002
|
NM_000135.4(FANCA):c.1900+16G>A
|
rs757981356
|
0.00002
|
NM_000135.4(FANCA):c.1959C>T (p.Leu653=)
|
rs368643963
|
0.00002
|
NM_000135.4(FANCA):c.1969C>T (p.Leu657=)
|
rs889618840
|
0.00002
|
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)
|
rs587778312
|
0.00002
|
NM_000135.4(FANCA):c.2015-12C>T
|
rs769141220
|
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.2209G>A (p.Ala737Thr)
|
rs539161141
|
0.00002
|
NM_000135.4(FANCA):c.2222+8C>T
|
rs745775730
|
0.00002
|
NM_000135.4(FANCA):c.228A>G (p.Lys76=)
|
rs372180286
|
0.00002
|
NM_000135.4(FANCA):c.2317-10C>G
|
rs757166295
|
0.00002
|
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly)
|
rs767455904
|
0.00002
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser)
|
rs1359572434
|
0.00002
|
NM_000135.4(FANCA):c.2504A>C (p.Lys835Thr)
|
rs749268120
|
0.00002
|
NM_000135.4(FANCA):c.2505-5T>G
|
rs768436599
|
0.00002
|
NM_000135.4(FANCA):c.2505-7T>C
|
rs374909752
|
0.00002
|
NM_000135.4(FANCA):c.2530T>C (p.Ser844Pro)
|
rs1017352035
|
0.00002
|
NM_000135.4(FANCA):c.2586A>C (p.Pro862=)
|
rs765499572
|
0.00002
|
NM_000135.4(FANCA):c.2778+18C>G
|
rs368370420
|
0.00002
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_000135.4(FANCA):c.2778+7G>A
|
rs374581674
|
0.00002
|
NM_000135.4(FANCA):c.2833G>A (p.Ala945Thr)
|
rs757996952
|
0.00002
|
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg)
|
rs369565161
|
0.00002
|
NM_000135.4(FANCA):c.2967G>A (p.Met989Ile)
|
rs1178389035
|
0.00002
|
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn)
|
rs1060501883
|
0.00002
|
NM_000135.4(FANCA):c.2979A>G (p.Gln993=)
|
rs761577170
|
0.00002
|
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser)
|
rs773260958
|
0.00002
|
NM_000135.4(FANCA):c.3179C>G (p.Thr1060Arg)
|
rs766358053
|
0.00002
|
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly)
|
rs369878171
|
0.00002
|
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val)
|
rs1419279017
|
0.00002
|
NM_000135.4(FANCA):c.3260C>T (p.Ser1087Leu)
|
rs376089640
|
0.00002
|
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)
|
rs777825824
|
0.00002
|
NM_000135.4(FANCA):c.3348+19C>T
|
rs200217850
|
0.00002
|
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)
|
rs977982480
|
0.00002
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
|
rs780078373
|
0.00002
|
NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly)
|
rs760330357
|
0.00002
|
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln)
|
rs770622823
|
0.00002
|
NM_000135.4(FANCA):c.3626+10G>C
|
rs753929458
|
0.00002
|
NM_000135.4(FANCA):c.3627-17C>T
|
rs754751562
|
0.00002
|
NM_000135.4(FANCA):c.3688C>G (p.Leu1230Val)
|
rs576401459
|
0.00002
|
NM_000135.4(FANCA):c.3714G>A (p.Arg1238=)
|
rs368437504
|
0.00002
|
NM_000135.4(FANCA):c.3726C>G (p.Ile1242Met)
|
rs972127356
|
0.00002
|
NM_000135.4(FANCA):c.3746T>C (p.Leu1249Pro)
|
rs753316789
|
0.00002
|
NM_000135.4(FANCA):c.3764A>C (p.Glu1255Ala)
|
rs373998809
|
0.00002
|
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)
|
rs577625130
|
0.00002
|
NM_000135.4(FANCA):c.393C>T (p.Thr131=)
|
rs1217316233
|
0.00002
|
NM_000135.4(FANCA):c.401C>T (p.Pro134Leu)
|
rs143570168
|
0.00002
|
NM_000135.4(FANCA):c.427-20A>G
|
rs755584134
|
0.00002
|
NM_000135.4(FANCA):c.492T>G (p.Leu164=)
|
rs951810885
|
0.00002
|
NM_000135.4(FANCA):c.559G>A (p.Val187Ile)
|
rs761538996
|
0.00002
|
NM_000135.4(FANCA):c.596+14G>A
|
rs757255187
|
0.00002
|
NM_000135.4(FANCA):c.596+4G>A
|
rs780355864
|
0.00002
|
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn)
|
rs779131886
|
0.00002
|
NM_000135.4(FANCA):c.620G>C (p.Gly207Ala)
|
rs1432895332
|
0.00002
|
NM_000135.4(FANCA):c.624G>A (p.Ser208=)
|
rs922099383
|
0.00002
|
NM_000135.4(FANCA):c.667G>A (p.Ala223Thr)
|
rs771195871
|
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.80-5C>T
|
rs777687671
|
0.00002
|
NM_000135.4(FANCA):c.831A>G (p.Ala277=)
|
rs773050347
|
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.88G>A (p.Val30Ile)
|
rs1160471115
|
0.00002
|
NM_000135.4(FANCA):c.910G>C (p.Gly304Arg)
|
rs775212719
|
0.00002
|
NM_000135.4(FANCA):c.946C>T (p.Leu316=)
|
rs775506986
|
0.00002
|
NM_000135.4(FANCA):c.1006+10G>A
|
rs762536802
|
0.00001
|
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.1010C>G (p.Ser337Cys)
|
rs374835951
|
0.00001
|
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)
|
rs755018069
|
0.00001
|
NM_000135.4(FANCA):c.1068C>G (p.Thr356=)
|
rs1161525939
|
0.00001
|
NM_000135.4(FANCA):c.1077C>T (p.Tyr359=)
|
rs2040108827
|
0.00001
|
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)
|
rs375895456
|
0.00001
|
NM_000135.4(FANCA):c.107A>G (p.Asn36Ser)
|
rs1210459454
|
0.00001
|
NM_000135.4(FANCA):c.1084-18C>T
|
rs368730853
|
0.00001
|
NM_000135.4(FANCA):c.1084-7A>T
|
rs543350684
|
0.00001
|
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser)
|
rs780833865
|
0.00001
|
NM_000135.4(FANCA):c.1137G>A (p.Leu379=)
|
rs372829977
|
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.1158G>T (p.Trp386Cys)
|
rs752864343
|
0.00001
|
NM_000135.4(FANCA):c.1194C>T (p.Val398=)
|
rs1158857420
|
0.00001
|
NM_000135.4(FANCA):c.1203A>G (p.Pro401=)
|
rs1180493781
|
0.00001
|
NM_000135.4(FANCA):c.1211A>G (p.Gln404Arg)
|
rs769664248
|
0.00001
|
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)
|
rs1280130060
|
0.00001
|
NM_000135.4(FANCA):c.1221T>G (p.Leu407=)
|
rs780963734
|
0.00001
|
NM_000135.4(FANCA):c.1225+7T>C
|
rs200008791
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.1226-6A>T
|
rs200953509
|
0.00001
|
NM_000135.4(FANCA):c.1233G>A (p.Val411=)
|
rs781735964
|
0.00001
|
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)
|
rs912838333
|
0.00001
|
NM_000135.4(FANCA):c.1247C>A (p.Ala416Asp)
|
rs750689577
|
0.00001
|
NM_000135.4(FANCA):c.1251G>T (p.Gln417His)
|
rs779068860
|
0.00001
|
NM_000135.4(FANCA):c.1257C>T (p.Phe419=)
|
rs764140346
|
0.00001
|
NM_000135.4(FANCA):c.1265G>A (p.Cys422Tyr)
|
rs759128726
|
0.00001
|
NM_000135.4(FANCA):c.1279A>G (p.Met427Val)
|
rs368103890
|
0.00001
|
NM_000135.4(FANCA):c.1284C>T (p.Val428=)
|
rs780409039
|
0.00001
|
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val)
|
rs772567344
|
0.00001
|
NM_000135.4(FANCA):c.1297G>A (p.Val433Ile)
|
rs753987812
|
0.00001
|
NM_000135.4(FANCA):c.1305C>T (p.Arg435=)
|
rs756132296
|
0.00001
|
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys)
|
rs142990858
|
0.00001
|
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn)
|
rs1262122499
|
0.00001
|
NM_000135.4(FANCA):c.1360-12C>T
|
rs951725614
|
0.00001
|
NM_000135.4(FANCA):c.1360-15C>G
|
rs773560865
|
0.00001
|
NM_000135.4(FANCA):c.1365C>T (p.Ser455=)
|
rs897548553
|
0.00001
|
NM_000135.4(FANCA):c.136T>C (p.Ser46Pro)
|
rs2041098152
|
0.00001
|
NM_000135.4(FANCA):c.1380A>G (p.Arg460=)
|
rs1035276734
|
0.00001
|
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg)
|
rs565303230
|
0.00001
|
NM_000135.4(FANCA):c.1404G>C (p.Lys468Asn)
|
rs755713516
|
0.00001
|
NM_000135.4(FANCA):c.1416C>T (p.Phe472=)
|
rs750815711
|
0.00001
|
NM_000135.4(FANCA):c.1419G>C (p.Leu473=)
|
rs1337670144
|
0.00001
|
NM_000135.4(FANCA):c.1425G>A (p.Thr475=)
|
rs1330646289
|
0.00001
|
NM_000135.4(FANCA):c.1440C>T (p.Leu480=)
|
rs1401053307
|
0.00001
|
NM_000135.4(FANCA):c.1460G>A (p.Arg487Gln)
|
rs377637236
|
0.00001
|
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys)
|
rs748907151
|
0.00001
|
NM_000135.4(FANCA):c.1470+16C>T
|
rs929828617
|
0.00001
|
NM_000135.4(FANCA):c.1471-16T>C
|
rs1450990297
|
0.00001
|
NM_000135.4(FANCA):c.1471-3C>G
|
rs1291307989
|
0.00001
|
NM_000135.4(FANCA):c.1471-8A>G
|
rs374717514
|
0.00001
|
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe)
|
rs1060501886
|
0.00001
|
NM_000135.4(FANCA):c.1485C>T (p.His495=)
|
rs773084743
|
0.00001
|
NM_000135.4(FANCA):c.1491C>T (p.Pro497=)
|
rs979593313
|
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.1512C>T (p.Arg504=)
|
rs1298473070
|
0.00001
|
NM_000135.4(FANCA):c.1513T>G (p.Ser505Ala)
|
rs1218121624
|
0.00001
|
NM_000135.4(FANCA):c.1518C>A (p.Leu506=)
|
rs781524409
|
0.00001
|
NM_000135.4(FANCA):c.1521C>T (p.Leu507=)
|
rs2039775150
|
0.00001
|
NM_000135.4(FANCA):c.1550G>A (p.Arg517Gln)
|
rs1050329686
|
0.00001
|
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn)
|
rs754123446
|
0.00001
|
NM_000135.4(FANCA):c.1563C>T (p.Leu521=)
|
rs995956285
|
0.00001
|
NM_000135.4(FANCA):c.1566G>A (p.Lys522=)
|
rs1276716915
|
0.00001
|
NM_000135.4(FANCA):c.1567-15G>C
|
rs748616829
|
0.00001
|
NM_000135.4(FANCA):c.1567-18T>C
|
rs771520715
|
0.00001
|
NM_000135.4(FANCA):c.1567-4G>A
|
rs1391630461
|
0.00001
|
NM_000135.4(FANCA):c.1567-7C>A
|
rs780475585
|
0.00001
|
NM_000135.4(FANCA):c.1567-9T>A
|
rs747184077
|
0.00001
|
NM_000135.4(FANCA):c.1587A>T (p.Gly529=)
|
rs1300063021
|
0.00001
|
NM_000135.4(FANCA):c.158G>C (p.Ser53Thr)
|
rs761614742
|
0.00001
|
NM_000135.4(FANCA):c.1590C>G (p.Leu530=)
|
rs773856680
|
0.00001
|
NM_000135.4(FANCA):c.160C>T (p.His54Tyr)
|
rs1383572316
|
0.00001
|
NM_000135.4(FANCA):c.1622C>A (p.Thr541Asn)
|
rs775853544
|
0.00001
|
NM_000135.4(FANCA):c.1626+13G>C
|
rs1341742486
|
0.00001
|
NM_000135.4(FANCA):c.1627-13G>T
|
rs372205127
|
0.00001
|
NM_000135.4(FANCA):c.1627-15C>T
|
rs779706968
|
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.1667T>C (p.Met556Thr)
|
rs750091512
|
0.00001
|
NM_000135.4(FANCA):c.1689C>T (p.Asn563=)
|
rs773446807
|
0.00001
|
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)
|
rs1032990637
|
0.00001
|
NM_000135.4(FANCA):c.1692C>T (p.Ile564=)
|
rs1176095983
|
0.00001
|
NM_000135.4(FANCA):c.1695A>T (p.Pro565=)
|
rs139181196
|
0.00001
|
NM_000135.4(FANCA):c.169C>T (p.Leu57=)
|
rs368828271
|
0.00001
|
NM_000135.4(FANCA):c.1701C>T (p.Thr567=)
|
rs745466726
|
0.00001
|
NM_000135.4(FANCA):c.1715+15C>T
|
rs755381554
|
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.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
NM_000135.4(FANCA):c.1740G>A (p.Val580=)
|
rs1400163791
|
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.1777-10C>G
|
rs781605892
|
0.00001
|
NM_000135.4(FANCA):c.1777-4A>G
|
rs1422606508
|
0.00001
|
NM_000135.4(FANCA):c.177C>T (p.Ala59=)
|
rs1439661268
|
0.00001
|
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys)
|
rs765036744
|
0.00001
|
NM_000135.4(FANCA):c.1803G>A (p.Val601=)
|
rs757053400
|
0.00001
|
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser)
|
rs766939940
|
0.00001
|
NM_000135.4(FANCA):c.1827-3C>T
|
rs772236777
|
0.00001
|
NM_000135.4(FANCA):c.1833T>C (p.Asp611=)
|
rs749173228
|
0.00001
|
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)
|
rs777736014
|
0.00001
|
NM_000135.4(FANCA):c.1842C>A (p.Pro614=)
|
rs769546891
|
0.00001
|
NM_000135.4(FANCA):c.184del (p.Glu63fs)
|
rs1260966020
|
0.00001
|
NM_000135.4(FANCA):c.1857C>T (p.Ser619=)
|
rs754522096
|
0.00001
|
NM_000135.4(FANCA):c.1860C>A (p.Thr620=)
|
rs1041601770
|
0.00001
|
NM_000135.4(FANCA):c.1872C>A (p.Ala624=)
|
rs571449307
|
0.00001
|
NM_000135.4(FANCA):c.1882G>A (p.Ala628Thr)
|
rs766422868
|
0.00001
|
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val)
|
rs199599499
|
0.00001
|
NM_000135.4(FANCA):c.189+1G>T
|
rs891323617
|
0.00001
|
NM_000135.4(FANCA):c.190-1G>C
|
rs765277254
|
0.00001
|
NM_000135.4(FANCA):c.1900+1G>A
|
rs1598120768
|
0.00001
|
NM_000135.4(FANCA):c.1901A>G (p.Asp634Gly)
|
rs151232042
|
0.00001
|
NM_000135.4(FANCA):c.1902T>G (p.Asp634Glu)
|
rs187300458
|
0.00001
|
NM_000135.4(FANCA):c.1906G>C (p.Ala636Pro)
|
rs1236146369
|
0.00001
|
NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr)
|
rs1293899212
|
0.00001
|
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe)
|
rs776682683
|
0.00001
|
NM_000135.4(FANCA):c.1938T>C (p.Ala646=)
|
rs1429790431
|
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.2010T>C (p.Arg670=)
|
rs1335322113
|
0.00001
|
NM_000135.4(FANCA):c.2013T>C (p.Asp671=)
|
rs1225307143
|
0.00001
|
NM_000135.4(FANCA):c.2015-8C>T
|
rs747546976
|
0.00001
|
NM_000135.4(FANCA):c.2018T>C (p.Ile673Thr)
|
rs1319264119
|
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.2066G>A (p.Gly689Asp)
|
rs769209218
|
0.00001
|
NM_000135.4(FANCA):c.207T>C (p.Cys69=)
|
rs941660593
|
0.00001
|
NM_000135.4(FANCA):c.2085C>T (p.Ser695=)
|
rs746285925
|
0.00001
|
NM_000135.4(FANCA):c.209A>G (p.Lys70Arg)
|
rs55692229
|
0.00001
|
NM_000135.4(FANCA):c.2111T>A (p.Leu704His)
|
rs1239942003
|
0.00001
|
NM_000135.4(FANCA):c.2114G>A (p.Ser705Asn)
|
rs762616165
|
0.00001
|
NM_000135.4(FANCA):c.2115C>T (p.Ser705=)
|
rs1158246204
|
0.00001
|
NM_000135.4(FANCA):c.2124G>A (p.Thr708=)
|
rs201668358
|
0.00001
|
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)
|
rs746373917
|
0.00001
|
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)
|
rs148203537
|
0.00001
|
NM_000135.4(FANCA):c.2141G>A (p.Arg714Gln)
|
rs1054636249
|
0.00001
|
NM_000135.4(FANCA):c.2142G>A (p.Arg714=)
|
rs1387853957
|
0.00001
|
NM_000135.4(FANCA):c.2146C>A (p.His716Asn)
|
rs754896727
|
0.00001
|
NM_000135.4(FANCA):c.2147A>G (p.His716Arg)
|
rs751474452
|
0.00001
|
NM_000135.4(FANCA):c.2149A>G (p.Met717Val)
|
rs766173155
|
0.00001
|
NM_000135.4(FANCA):c.2151+13G>A
|
rs554897273
|
0.00001
|
NM_000135.4(FANCA):c.2152-10G>C
|
rs557705265
|
0.00001
|
NM_000135.4(FANCA):c.2152-18A>G
|
rs760146323
|
0.00001
|
NM_000135.4(FANCA):c.2152-7T>C
|
rs763531092
|
0.00001
|
NM_000135.4(FANCA):c.2167C>T (p.Leu723=)
|
rs2039290580
|
0.00001
|
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr)
|
rs1425954290
|
0.00001
|
NM_000135.4(FANCA):c.2182C>G (p.Gln728Glu)
|
rs780192381
|
0.00001
|
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser)
|
rs1440861257
|
0.00001
|
NM_000135.4(FANCA):c.2190G>A (p.Leu730=)
|
rs745845683
|
0.00001
|
NM_000135.4(FANCA):c.2199C>T (p.Ala733=)
|
rs757095786
|
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.2222+10C>T
|
rs770711287
|
0.00001
|
NM_000135.4(FANCA):c.2222+14del
|
rs1423390984
|
0.00001
|
NM_000135.4(FANCA):c.2222+17C>T
|
rs755657610
|
0.00001
|
NM_000135.4(FANCA):c.2222+1G>A
|
rs775388912
|
0.00001
|
NM_000135.4(FANCA):c.2223-15C>T
|
rs775834091
|
0.00001
|
NM_000135.4(FANCA):c.2226G>A (p.Gln742=)
|
rs1336946372
|
0.00001
|
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)
|
rs2039278551
|
0.00001
|
NM_000135.4(FANCA):c.2239G>T (p.Ala747Ser)
|
rs931143821
|
0.00001
|
NM_000135.4(FANCA):c.2247C>T (p.Phe749=)
|
rs772842754
|
0.00001
|
NM_000135.4(FANCA):c.2295C>G (p.Leu765=)
|
rs1193622990
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.2305C>G (p.Leu769Val)
|
rs917707717
|
0.00001
|
NM_000135.4(FANCA):c.2316+19G>A
|
rs1421219472
|
0.00001
|
NM_000135.4(FANCA):c.2316+7C>G
|
rs1366206489
|
0.00001
|
NM_000135.4(FANCA):c.2317-6T>C
|
rs760617819
|
0.00001
|
NM_000135.4(FANCA):c.2322G>A (p.Pro774=)
|
rs931091451
|
0.00001
|
NM_000135.4(FANCA):c.2326C>T (p.Leu776=)
|
rs527300192
|
0.00001
|
NM_000135.4(FANCA):c.2333C>T (p.Ala778Val)
|
rs777163986
|
0.00001
|
NM_000135.4(FANCA):c.2336C>T (p.Pro779Leu)
|
rs1400044983
|
0.00001
|
NM_000135.4(FANCA):c.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.2417C>T (p.Pro806Leu)
|
rs1352100383
|
0.00001
|
NM_000135.4(FANCA):c.2419G>A (p.Ala807Thr)
|
rs2039263876
|
0.00001
|
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val)
|
rs144570744
|
0.00001
|
NM_000135.4(FANCA):c.2435T>G (p.Leu812Arg)
|
rs749326662
|
0.00001
|
NM_000135.4(FANCA):c.2437C>T (p.Pro813Ser)
|
rs2039263207
|
0.00001
|
NM_000135.4(FANCA):c.2448G>A (p.Ala816=)
|
rs752705496
|
0.00001
|
NM_000135.4(FANCA):c.2450T>A (p.Leu817His)
|
rs1307805145
|
0.00001
|
NM_000135.4(FANCA):c.2456A>T (p.Asp819Val)
|
rs976586387
|
0.00001
|
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn)
|
rs1339411422
|
0.00001
|
NM_000135.4(FANCA):c.2467A>T (p.Thr823Ser)
|
rs1292223325
|
0.00001
|
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys)
|
rs751222471
|
0.00001
|
NM_000135.4(FANCA):c.2481G>A (p.Arg827=)
|
rs749895479
|
0.00001
|
NM_000135.4(FANCA):c.2487C>T (p.Ser829=)
|
rs776013293
|
0.00001
|
NM_000135.4(FANCA):c.2502G>A (p.Leu834=)
|
rs770993950
|
0.00001
|
NM_000135.4(FANCA):c.2504+10T>G
|
rs770043372
|
0.00001
|
NM_000135.4(FANCA):c.2517A>G (p.Ala839=)
|
rs1325322271
|
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.2573G>C (p.Ser858Thr)
|
rs1291169859
|
0.00001
|
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe)
|
rs980582362
|
0.00001
|
NM_000135.4(FANCA):c.2594T>G (p.Ile865Ser)
|
rs1331781220
|
0.00001
|
NM_000135.4(FANCA):c.2601+10C>G
|
rs745601855
|
0.00001
|
NM_000135.4(FANCA):c.2601+15T>C
|
rs373423046
|
0.00001
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
NM_000135.4(FANCA):c.2601+20A>C
|
rs557565599
|
0.00001
|
NM_000135.4(FANCA):c.2602-20C>T
|
rs752731568
|
0.00001
|
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly)
|
rs758619078
|
0.00001
|
NM_000135.4(FANCA):c.2700T>G (p.Ser900=)
|
rs755783870
|
0.00001
|
NM_000135.4(FANCA):c.2704G>C (p.Asp902His)
|
rs1009521389
|
0.00001
|
NM_000135.4(FANCA):c.2716G>A (p.Ala906Thr)
|
rs763769211
|
0.00001
|
NM_000135.4(FANCA):c.2730C>T (p.Leu910=)
|
rs749774911
|
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.2748C>T (p.Phe916=)
|
rs755154360
|
0.00001
|
NM_000135.4(FANCA):c.2750G>A (p.Arg917Gln)
|
rs747220449
|
0.00001
|
NM_000135.4(FANCA):c.2778+14C>T
|
rs767053728
|
0.00001
|
NM_000135.4(FANCA):c.2779-9C>G
|
rs764825402
|
0.00001
|
NM_000135.4(FANCA):c.2786del (p.Tyr929fs)
|
rs779480428
|
0.00001
|
NM_000135.4(FANCA):c.2800C>A (p.His934Asn)
|
rs774871582
|
0.00001
|
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met)
|
rs769970040
|
0.00001
|
NM_000135.4(FANCA):c.283+18T>A
|
rs1266280397
|
0.00001
|
NM_000135.4(FANCA):c.283+9T>C
|
rs779593295
|
0.00001
|
NM_000135.4(FANCA):c.284-9G>A
|
rs367672895
|
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.2852+8T>C
|
rs763249422
|
0.00001
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000135.4(FANCA):c.2873C>T (p.Ala958Val)
|
rs1374262828
|
0.00001
|
NM_000135.4(FANCA):c.2874G>A (p.Ala958=)
|
rs199916178
|
0.00001
|
NM_000135.4(FANCA):c.2879A>G (p.His960Arg)
|
rs1460469198
|
0.00001
|
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu)
|
rs779162871
|
0.00001
|
NM_000135.4(FANCA):c.2904G>T (p.Ser968=)
|
rs568354015
|
0.00001
|
NM_000135.4(FANCA):c.2922C>T (p.Asp974=)
|
rs756241886
|
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.2940G>A (p.Ala980=)
|
rs769418220
|
0.00001
|
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)
|
rs191943709
|
0.00001
|
NM_000135.4(FANCA):c.2947A>T (p.Ile983Phe)
|
rs375312389
|
0.00001
|
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe)
|
rs751380220
|
0.00001
|
NM_000135.4(FANCA):c.2959G>A (p.Ala987Thr)
|
rs752735858
|
0.00001
|
NM_000135.4(FANCA):c.2974C>T (p.His992Tyr)
|
rs967438026
|
0.00001
|
NM_000135.4(FANCA):c.2975A>T (p.His992Leu)
|
rs184007986
|
0.00001
|
NM_000135.4(FANCA):c.2981+12A>G
|
rs1416505835
|
0.00001
|
NM_000135.4(FANCA):c.2982-17T>C
|
rs763475096
|
0.00001
|
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=)
|
rs758384536
|
0.00001
|
NM_000135.4(FANCA):c.3003A>C (p.Ser1001=)
|
rs2038619241
|
0.00001
|
NM_000135.4(FANCA):c.3047A>G (p.Asp1016Gly)
|
rs1303235237
|
0.00001
|
NM_000135.4(FANCA):c.3065A>G (p.Gln1022Arg)
|
rs933911279
|
0.00001
|
NM_000135.4(FANCA):c.3067-20A>C
|
rs1213920786
|
0.00001
|
NM_000135.4(FANCA):c.3077C>T (p.Ala1026Val)
|
rs545999415
|
0.00001
|
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=)
|
rs35402142
|
0.00001
|
NM_000135.4(FANCA):c.3108G>C (p.Val1036=)
|
rs759859528
|
0.00001
|
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
|
rs771174892
|
0.00001
|
NM_000135.4(FANCA):c.3125C>T (p.Pro1042Leu)
|
rs1173497525
|
0.00001
|
NM_000135.4(FANCA):c.312G>A (p.Arg104=)
|
rs937043976
|
0.00001
|
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr)
|
rs747913731
|
0.00001
|
NM_000135.4(FANCA):c.3153T>C (p.Ile1051=)
|
rs1401723593
|
0.00001
|
NM_000135.4(FANCA):c.3162A>G (p.Arg1054=)
|
rs778275451
|
0.00001
|
NM_000135.4(FANCA):c.3173C>T (p.Ala1058Val)
|
rs370873098
|
0.00001
|
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala)
|
rs764893807
|
0.00001
|
NM_000135.4(FANCA):c.3186G>A (p.Gly1062=)
|
rs2038517320
|
0.00001
|
NM_000135.4(FANCA):c.3189G>C (p.Trp1063Cys)
|
rs776391208
|
0.00001
|
NM_000135.4(FANCA):c.318G>T (p.Gly106=)
|
rs1288618851
|
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.3215A>G (p.Gln1072Arg)
|
rs1013239803
|
0.00001
|
NM_000135.4(FANCA):c.3223C>T (p.Leu1075=)
|
rs751987951
|
0.00001
|
NM_000135.4(FANCA):c.3231G>A (p.Met1077Ile)
|
rs2038515231
|
0.00001
|
NM_000135.4(FANCA):c.3238C>T (p.Arg1080Trp)
|
rs760392231
|
0.00001
|
NM_000135.4(FANCA):c.3239+18C>G
|
rs781742623
|
0.00001
|
NM_000135.4(FANCA):c.3239+8C>G
|
rs2038514547
|
0.00001
|
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)
|
rs753864057
|
0.00001
|
NM_000135.4(FANCA):c.324C>T (p.Pro108=)
|
rs775822054
|
0.00001
|
NM_000135.4(FANCA):c.3250C>T (p.Arg1084Cys)
|
rs764206631
|
0.00001
|
NM_000135.4(FANCA):c.3268C>T (p.Leu1090Phe)
|
rs1567603054
|
0.00001
|
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=)
|
rs762719233
|
0.00001
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
NM_000135.4(FANCA):c.3300C>T (p.Pro1100=)
|
rs1372873475
|
0.00001
|
NM_000135.4(FANCA):c.3321G>A (p.Gln1107=)
|
rs1276452090
|
0.00001
|
NM_000135.4(FANCA):c.3338A>T (p.Asn1113Ile)
|
rs1204335568
|
0.00001
|
NM_000135.4(FANCA):c.3349-14G>A
|
rs1248372954
|
0.00001
|
NM_000135.4(FANCA):c.3349-17C>T
|
rs962847137
|
0.00001
|
NM_000135.4(FANCA):c.3349-5T>C
|
rs1055846604
|
0.00001
|
NM_000135.4(FANCA):c.3349-9C>G
|
rs1463228706
|
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.3409-4G>T
|
rs2038401980
|
0.00001
|
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg)
|
rs769824282
|
0.00001
|
NM_000135.4(FANCA):c.3447C>T (p.Ser1149=)
|
rs2038400334
|
0.00001
|
NM_000135.4(FANCA):c.3448C>T (p.Leu1150=)
|
rs369073173
|
0.00001
|
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=)
|
rs1266179547
|
0.00001
|
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=)
|
rs768306527
|
0.00001
|
NM_000135.4(FANCA):c.3513+13T>C
|
rs560352340
|
0.00001
|
NM_000135.4(FANCA):c.3513+1G>A
|
rs1188082371
|
0.00001
|
NM_000135.4(FANCA):c.3513+7C>G
|
rs2038397980
|
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.3558G>A (p.Arg1186=)
|
rs1248260786
|
0.00001
|
NM_000135.4(FANCA):c.3561A>G (p.Arg1187=)
|
rs781679210
|
0.00001
|
NM_000135.4(FANCA):c.3594G>A (p.Gln1198=)
|
rs935013716
|
0.00001
|
NM_000135.4(FANCA):c.3612G>A (p.Arg1204=)
|
rs762402959
|
0.00001
|
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn)
|
rs1351484293
|
0.00001
|
NM_000135.4(FANCA):c.3626+4C>T
|
rs772166806
|
0.00001
|
NM_000135.4(FANCA):c.3626+7G>A
|
rs933657325
|
0.00001
|
NM_000135.4(FANCA):c.3627-16G>A
|
rs369154534
|
0.00001
|
NM_000135.4(FANCA):c.3627-4C>T
|
rs2062172483
|
0.00001
|
NM_000135.4(FANCA):c.3627-5C>G
|
rs1417894512
|
0.00001
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
NM_000135.4(FANCA):c.3646G>A (p.Ala1216Thr)
|
rs1262639465
|
0.00001
|
NM_000135.4(FANCA):c.3651C>T (p.Ser1217=)
|
rs1351099497
|
0.00001
|
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser)
|
rs773150877
|
0.00001
|
NM_000135.4(FANCA):c.3660C>T (p.Pro1220=)
|
rs751703958
|
0.00001
|
NM_000135.4(FANCA):c.3690G>A (p.Leu1230=)
|
rs1369764790
|
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.3720A>G (p.Glu1240=)
|
rs2062170339
|
0.00001
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
NM_000135.4(FANCA):c.3736C>T (p.Leu1246=)
|
rs2062169927
|
0.00001
|
NM_000135.4(FANCA):c.3738A>G (p.Leu1246=)
|
rs2062169862
|
0.00001
|
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu)
|
rs777313447
|
0.00001
|
NM_000135.4(FANCA):c.3754G>A (p.Glu1252Lys)
|
rs766875357
|
0.00001
|
NM_000135.4(FANCA):c.3754G>C (p.Glu1252Gln)
|
rs766875357
|
0.00001
|
NM_000135.4(FANCA):c.3765+16C>A
|
rs745639466
|
0.00001
|
NM_000135.4(FANCA):c.387G>A (p.Ala129=)
|
rs1181727153
|
0.00001
|
NM_000135.4(FANCA):c.414T>G (p.Thr138=)
|
rs574311470
|
0.00001
|
NM_000135.4(FANCA):c.427-6T>C
|
rs1295402252
|
0.00001
|
NM_000135.4(FANCA):c.441C>T (p.Ser147=)
|
rs772133367
|
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.499T>C (p.Cys167Arg)
|
rs1449541412
|
0.00001
|
NM_000135.4(FANCA):c.522+1G>T
|
rs1365019056
|
0.00001
|
NM_000135.4(FANCA):c.522+8T>A
|
rs764367299
|
0.00001
|
NM_000135.4(FANCA):c.523-20T>C
|
rs773036631
|
0.00001
|
NM_000135.4(FANCA):c.546G>A (p.Val182=)
|
rs766417293
|
0.00001
|
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys)
|
rs758528624
|
0.00001
|
NM_000135.4(FANCA):c.561A>T (p.Val187=)
|
rs1050053060
|
0.00001
|
NM_000135.4(FANCA):c.563A>G (p.Gln188Arg)
|
rs763736133
|
0.00001
|
NM_000135.4(FANCA):c.571G>T (p.Val191Leu)
|
rs1429483489
|
0.00001
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
NM_000135.4(FANCA):c.582A>G (p.Gln194=)
|
rs748517164
|
0.00001
|
NM_000135.4(FANCA):c.589C>T (p.Leu197=)
|
rs755202969
|
0.00001
|
NM_000135.4(FANCA):c.591G>A (p.Leu197=)
|
rs1567650751
|
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.597-1G>C
|
rs147945881
|
0.00001
|
NM_000135.4(FANCA):c.603C>T (p.Pro201=)
|
rs542064386
|
0.00001
|
NM_000135.4(FANCA):c.606C>T (p.Asp202=)
|
rs1431969235
|
0.00001
|
NM_000135.4(FANCA):c.610C>G (p.His204Asp)
|
rs749380996
|
0.00001
|
NM_000135.4(FANCA):c.612T>C (p.His204=)
|
rs1226994862
|
0.00001
|
NM_000135.4(FANCA):c.630C>T (p.Leu210=)
|
rs781089592
|
0.00001
|
NM_000135.4(FANCA):c.642G>C (p.Leu214=)
|
rs751215437
|
0.00001
|
NM_000135.4(FANCA):c.660G>C (p.Gln220His)
|
rs1555571174
|
0.00001
|
NM_000135.4(FANCA):c.675C>T (p.Cys225=)
|
rs367717307
|
0.00001
|
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu)
|
rs1598177148
|
0.00001
|
NM_000135.4(FANCA):c.684T>C (p.Ala228=)
|
rs1354391809
|
0.00001
|
NM_000135.4(FANCA):c.687C>T (p.Asp229=)
|
rs1598177104
|
0.00001
|
NM_000135.4(FANCA):c.693C>T (p.Ala231=)
|
rs779839381
|
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.710-8T>C
|
rs181310336
|
0.00001
|
NM_000135.4(FANCA):c.769G>A (p.Val257Met)
|
rs777311234
|
0.00001
|
NM_000135.4(FANCA):c.792+15C>G
|
rs199866285
|
0.00001
|
NM_000135.4(FANCA):c.793-11T>C
|
rs1030329914
|
0.00001
|
NM_000135.4(FANCA):c.793-12C>G
|
rs746312984
|
0.00001
|
NM_000135.4(FANCA):c.793-15A>G
|
rs772612378
|
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.80-4G>T
|
rs747881254
|
0.00001
|
NM_000135.4(FANCA):c.80-8C>T
|
rs749080227
|
0.00001
|
NM_000135.4(FANCA):c.807A>C (p.Val269=)
|
rs766352671
|
0.00001
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
NM_000135.4(FANCA):c.827-16C>G
|
rs758496205
|
0.00001
|
NM_000135.4(FANCA):c.827-17C>G
|
rs1483669797
|
0.00001
|
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr)
|
rs1010833101
|
0.00001
|
NM_000135.4(FANCA):c.839C>T (p.Ala280Val)
|
rs767092317
|
0.00001
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
NM_000135.4(FANCA):c.876C>G (p.His292Gln)
|
rs527897404
|
0.00001
|
NM_000135.4(FANCA):c.882C>G (p.Ile294Met)
|
rs754520622
|
0.00001
|
NM_000135.4(FANCA):c.891C>T (p.Cys297=)
|
rs1210939756
|
0.00001
|
NM_000135.4(FANCA):c.893+9C>T
|
rs1313828842
|
0.00001
|
NM_000135.4(FANCA):c.894-10G>A
|
rs751912856
|
0.00001
|
NM_000135.4(FANCA):c.894-20T>C
|
rs1475016373
|
0.00001
|
NM_000135.4(FANCA):c.894-2A>G
|
rs976556567
|
0.00001
|
NM_000135.4(FANCA):c.894-9C>T
|
rs376093765
|
0.00001
|
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn)
|
rs1060501877
|
0.00001
|
NM_000135.4(FANCA):c.90C>G (p.Val30=)
|
rs532713581
|
0.00001
|
NM_000135.4(FANCA):c.911G>C (p.Gly304Ala)
|
rs745451374
|
0.00001
|
NM_000135.4(FANCA):c.913C>T (p.His305Tyr)
|
rs774054025
|
0.00001
|
NM_000135.4(FANCA):c.917C>T (p.Thr306Met)
|
rs370852532
|
0.00001
|
NM_000135.4(FANCA):c.927T>C (p.Ser309=)
|
rs780226614
|
0.00001
|
NM_000135.4(FANCA):c.92A>G (p.Lys31Arg)
|
rs2041101472
|
0.00001
|
NM_000135.4(FANCA):c.969C>G (p.Thr323=)
|
rs747408661
|
0.00001
|
NM_000135.4(FANCA):c.96G>A (p.Arg32=)
|
rs1381349863
|
0.00001
|
NM_000135.4(FANCA):c.982C>G (p.Leu328Val)
|
rs779244841
|
0.00001
|
NM_000135.4(FANCA):c.990C>T (p.His330=)
|
rs1413024545
|
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
|
|
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NC_000016.10:g.(89742939_89744958)_(89767238_89769836)del
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NC_000016.10:g.(89742939_89744958)_(89816657_?)del
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NC_000016.10:g.(89746891_89748658)_(89752223_89758576)del
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NC_000016.10:g.(89746891_89748658)_(89770025_89770165)del
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NC_000016.10:g.(89746891_89748658)_(89770635_89771677)del
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NC_000016.10:g.(89746891_89748658)_(89771815_89773270)del
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NC_000016.10:g.(89746891_89748658)_(89796019_89799165)del
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NC_000016.10:g.(89748768_89749729)_(89758706_89761948)del
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NC_000016.10:g.(89748768_89749729)_(89765067_89767140)del
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NC_000016.10:g.(89749903_89752137)_(89758706_89761948)del
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NC_000016.10:g.(89749903_89752137)_(89792548_89795905)del
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NC_000016.10:g.(89749903_89752137)_(89816657_?)del
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NC_000016.10:g.(89752223_89758576)_(89762023_89764889)del
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NC_000016.10:g.(89752223_89758576)_(89765067_89767140)del
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NC_000016.10:g.(89752223_89758576)_(89767238_89769836)del
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NC_000016.10:g.(89752223_89758576)_(89773385_89775741)del
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NC_000016.10:g.(89752223_89758576)_(89775816_89778800)del
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NC_000016.10:g.(89752223_89758576)_(89783103_89784853)del
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NC_000016.10:g.(89752223_89758576)_(89816657_?)del
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NC_000016.10:g.(89758706_89761948)_(89765067_89767140)del
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NC_000016.10:g.(89758706_89761948)_(89771815_89773270)del
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NC_000016.10:g.(89758706_89761948)_(89773385_89775741)del
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NC_000016.10:g.(89758706_89761948)_(89775816_89778800)del
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NC_000016.10:g.(89758706_89761948)_(89779958_89782858)del
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NC_000016.10:g.(89758706_89761948)_(89784965_89791402)del
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NC_000016.10:g.(89758706_89761948)_(89805393_89808293)del
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NC_000016.10:g.(89762023_89764889)_(89765067_89767140)del
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NC_000016.10:g.(89762023_89764889)_(89770635_89771677)del
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NC_000016.10:g.(89762023_89764889)_(89773385_89775741)del
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NC_000016.10:g.(89762023_89764889)_(89775816_89778800)del
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NC_000016.10:g.(89762023_89764889)_(89784965_89791402)del
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NC_000016.10:g.(89765067_89767140)_(89803342_89805279)del
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NC_000016.10:g.(89767238_89769836)_(89775816_89778800)del
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NC_000016.10:g.(89767238_89769836)_(89783103_89784853)del
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NC_000016.10:g.(89767238_89769836)_(89811072_89814519)del
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NC_000016.10:g.(89770025_89770165)_(89779958_89782858)del
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NC_000016.10:g.(89770025_89770165)_(89792069_89792470)del
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NC_000016.10:g.(89770635_89771677)_(89771815_89773270)del
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NC_000016.10:g.(89770635_89771677)_(89779958_89782858)del
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NC_000016.10:g.(89770635_89771677)_(89783103_89784853)del
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NC_000016.10:g.(89770635_89771677)_(89784965_89791402)del
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NC_000016.10:g.(89770635_89771677)_(89792548_89795905)del
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NC_000016.10:g.(89771815_89773270)_(89775816_89778800)del
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NC_000016.10:g.(89771815_89773270)_(89778851_89778942)del
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NC_000016.10:g.(89771815_89773270)_(89783103_89784853)del
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NC_000016.10:g.(89771815_89773270)_(89816657_?)del
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NC_000016.10:g.(89773385_89775741)_(89775816_89778800)del
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NC_000016.10:g.(89773385_89775741)_(89779958_89782858)del
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NC_000016.10:g.(89773385_89775741)_(89784965_89791402)dup
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NC_000016.10:g.(89773385_89775741)_(89796019_89799165)del
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NC_000016.10:g.(89773385_89775741)_(89799639_89803258)del
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NC_000016.10:g.(89773385_89775741)_(89808368_89810706)del
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NC_000016.10:g.(89773385_89775741)_(89816657_?)del
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NC_000016.10:g.(89775816_89778800)_(89778851_89778942)del
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NC_000016.10:g.(89775816_89778800)_(89783103_89784853)del
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NC_000016.10:g.(89775816_89778800)_(89784965_89791402)del
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NC_000016.10:g.(89775816_89778800)_(89796019_89799165)del
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NC_000016.10:g.(89775816_89778800)_(89805393_89808293)del
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NC_000016.10:g.(89775816_89778800)_(89808368_89810706)del
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NC_000016.10:g.(89775816_89778800)_(89816657_?)del
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NC_000016.10:g.(89778851_89778942)_(89779004_89779868)del
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NC_000016.10:g.(89779004_89779868)_(89779958_89782858)del
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NC_000016.10:g.(89779004_89779868)_(89783103_89784853)del
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NC_000016.10:g.(89779004_89779868)_(89799639_89803258)del
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NC_000016.10:g.(89779958_89782858)_(89784965_89791402)del
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NC_000016.10:g.(89779958_89782858)_(89796019_89799165)del
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NC_000016.10:g.(89779958_89782858)_(89799233_89799604)del
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NC_000016.10:g.(89779958_89782858)_(89805393_89808293)del
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NC_000016.10:g.(89782919_89783006)_(89783103_89784853)del
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NC_000016.10:g.(89783103_89784853)_(89784965_89791402)del
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NC_000016.10:g.(89784965_89791402)_(89792069_89792470)del
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NC_000016.10:g.(89784965_89791402)_(89792548_89795905)del
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NC_000016.10:g.(89784965_89791402)_(89796019_89799165)del
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NC_000016.10:g.(89784965_89791402)_(89799639_89803258)del
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NC_000016.10:g.(89784965_89791402)_(89805393_89808293)del
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NC_000016.10:g.(89784965_89791402)_(89808368_89810706)del
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NC_000016.10:g.(89784965_89791402)_(89816657_?)del
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NC_000016.10:g.(89791537_89791926)_(89792069_89792470)del
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NC_000016.10:g.(89791537_89791926)_(89799233_89799604)del
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NC_000016.10:g.(89792069_89792470)_(89799233_89799604)del
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NC_000016.10:g.(89792069_89792470)_(89816657_?)del
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NC_000016.10:g.(89792548_89795905)_(89803342_89805279)del
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NC_000016.10:g.(89792548_89795905)_(89805393_89808293)del
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NC_000016.10:g.(89792548_89795905)_(89816657_?)del
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NC_000016.10:g.(89799233_89799604)_(89799639_89803258)del
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NC_000016.10:g.(89799639_89803258)_(89805393_89808293)del
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NC_000016.10:g.(89799639_89803258)_(89811072_89814519)del
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NC_000016.10:g.(89803342_89805279)_(89805393_89808293)del
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NC_000016.10:g.(89803342_89805279)_(89816657_?)del
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NC_000016.10:g.(89805279_89805393)_(89816657_?)del
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NC_000016.10:g.(89805393_89808293)_(89808368_89810706)del
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NC_000016.10:g.(89805393_89808293)_(89814614_89815876)del
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NC_000016.10:g.(89805393_89808293)_(89816657_?)del
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NC_000016.10:g.(89808368_89810706)_(89810803_89810928)del
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NC_000016.10:g.(89808368_89810706)_(89811072_89814519)del
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NC_000016.10:g.(89808368_89810706)_(89815987_89816536)del
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NC_000016.10:g.(89808368_89810706)_(89816657_?)del
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NC_000016.10:g.(89811072_89814519)_(89814614_89815876)del
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NC_000016.10:g.(89814614_89815876)_(89816657_?)del
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NC_000016.10:g.(89815987_89816536)_(89816657_?)del
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NC_000016.10:g.(?_89748641)_(89765076_?)del
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NC_000016.10:g.(?_89748649)_(89758715_?)del
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NC_000016.10:g.(?_89748649)_(89765076_?)del
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NC_000016.10:g.(?_89752128)_(89808377_?)del
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NC_000016.10:g.(?_89758567)_(89762032_?)dup
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NC_000016.10:g.(?_89758567)_(89784974_?)del
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NC_000016.10:g.(?_89758567)_(89808377_?)del
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NC_000016.10:g.(?_89761939)_(89765076_?)del
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NC_000016.10:g.(?_89761939)_(89816616_?)del
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NC_000016.10:g.(?_89764807)_(89775825_?)del
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NC_000016.10:g.(?_89764807)_(89779967_?)del
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NC_000016.10:g.(?_89767131)_(89784974_?)del
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NC_000016.10:g.(?_89767131)_(89799648_?)del
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NC_000016.10:g.(?_89775736)_(89775821_?)del
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NC_000016.10:g.(?_89778791)_(89779967_?)del
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NC_000016.10:g.(?_89778791)_(89816625_?)del
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NC_000016.10:g.(?_89782849)_(89796028_?)del
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NC_000016.10:g.(?_89782853)_(89784970_?)del
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NC_000016.10:g.(?_89784844)_(89784974_?)del
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NC_000016.10:g.(?_89791393)_(89796028_?)del
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NC_000016.10:g.(?_89791393)_(89799648_?)del
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NC_000016.10:g.(?_89791393)_(89811081_?)del
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NC_000016.10:g.(?_89791397)_(89792553_?)del
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NC_000016.10:g.(?_89791403)_(89796018_?)del
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NC_000016.10:g.(?_89795896)_(89805402_?)del
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NC_000016.10:g.(?_89798246)_(89799648_?)del
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NC_000016.10:g.(?_89799156)_(89799648_?)del
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NC_000016.10:g.(?_89803249)_(89808377_?)del
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NC_000016.10:g.(?_89803249)_(89811081_?)del
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NC_000016.10:g.(?_89808284)_(89816616_?)del
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NC_000016.10:g.(?_89808284)_(89816625_?)del
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NC_000016.10:g.(?_89810697)_(89816616_?)del
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NC_000016.10:g.(?_89814510)_(89816616_?)dup
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NC_000016.10:g.(?_89814510)_(89816625_?)del
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NC_000016.10:g.(?_89815867)_(89816625_?)del
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NC_000016.10:g.89746689dup
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NC_000016.10:g.89748659_89762022del
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NC_000016.10:g.89752141_89762025del
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NC_000016.10:g.89754008_89816657del
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NC_000016.9:g.(89815176_89816137)_(89866047_89869666)del
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NC_000016.9:g.(89816311_89818545)_(89871801_89874701)del
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NC_000016.9:g.(89825114_89828356)_(89877480_89880927)del
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NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del
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NC_000016.9:g.(89831475_89833548)_(89883066_?)del
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NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del
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NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del
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NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
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NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
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NC_000016.9:g.(89877480_89880927)_(89883066_?)del
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NC_000016.9:g.(?_89809188)_(89846385_?)del
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NC_000016.9:g.(?_89809198)_(89809356_?)del
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NC_000016.9:g.(?_89809198)_(89833655_?)del
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NC_000016.9:g.(?_89809198)_(89842233_?)del
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NC_000016.9:g.(?_89811347)_(89849530_?)del
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NC_000016.9:g.(?_89811357)_(89815185_?)del
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NC_000016.9:g.(?_89811357)_(89842233_?)del
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NC_000016.9:g.(?_89815047)_(89816330_?)del
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NC_000016.9:g.(?_89815049)_(89883033_?)del
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NC_000016.9:g.(?_89816056)_(89816320_?)del
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NC_000016.9:g.(?_89816056)_(89816320_?)dup
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NC_000016.9:g.(?_89816056)_(89849520_?)del
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NC_000016.9:g.(?_89818526)_(89833665_?)dup
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NC_000016.9:g.(?_89818526)_(89874795_?)del
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NC_000016.9:g.(?_89818536)_(89818822_?)del
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NC_000016.9:g.(?_89818536)_(89818822_?)dup
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NC_000016.9:g.(?_89818536)_(89825128_?)del
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NC_000016.9:g.(?_89818536)_(89839802_?)del
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NC_000016.9:g.(?_89818536)_(89846375_?)del
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NC_000016.9:g.(?_89818536)_(89877489_?)del
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NC_000016.9:g.(?_89824965)_(89825133_?)del
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NC_000016.9:g.(?_89824965)_(89883023_?)dup
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NC_000016.9:g.(?_89824975)_(89828440_?)del
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NC_000016.9:g.(?_89824975)_(89839802_?)del
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NC_000016.9:g.(?_89824975)_(89842233_?)del
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NC_000016.9:g.(?_89824975)_(89883033_?)del
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NC_000016.9:g.(?_89824976)_(89831435_?)del
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NC_000016.9:g.(?_89828347)_(89839802_?)del
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NC_000016.9:g.(?_89828347)_(89842233_?)del
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NC_000016.9:g.(?_89828347)_(89846375_?)dup
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NC_000016.9:g.(?_89828347)_(89862436_?)del
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NC_000016.9:g.(?_89828347)_(89874785_?)del
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NC_000016.9:g.(?_89831215)_(89831494_?)del
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NC_000016.9:g.(?_89831292)_(89833651_?)del
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NC_000016.9:g.(?_89833539)_(89833655_?)del
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NC_000016.9:g.(?_89833539)_(89839802_?)del
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NC_000016.9:g.(?_89833539)_(89842233_?)del
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NC_000016.9:g.(?_89833539)_(89858965_?)del
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NC_000016.9:g.(?_89836111)_(89839802_?)del
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NC_000016.9:g.(?_89836962)_(89838232_?)del
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NC_000016.9:g.(?_89839669)_(89866056_?)del
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NC_000016.9:g.(?_89842130)_(89883023_?)dup
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NC_000016.9:g.(?_89842140)_(89842233_?)del
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NC_000016.9:g.(?_89842140)_(89845421_?)del
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NC_000016.9:g.(?_89842140)_(89851382_?)dup
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NC_000016.9:g.(?_89842140)_(89866056_?)del
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NC_000016.9:g.(?_89864654)_(89866056_?)dup
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NC_000016.9:g.(?_89864654)_(89883024_?)del
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NC_000016.9:g.(?_89869657)_(89871810_?)del
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NC_000016.9:g.(?_89869657)_(89877489_?)dup
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|
|
NC_000016.9:g.(?_89869657)_(89881031_?)dup
|
|
|
NC_000016.9:g.(?_89871678)_(89877489_?)del
|
|
|
NC_000016.9:g.(?_89874692)_(89881031_?)del
|
|
|
NC_000016.9:g.(?_89877105)_(89877489_?)del
|
|
|
NC_000016.9:g.(?_89880908)_(89883023_?)del
|
|
|
NC_000016.9:g.(?_89880918)_(89881031_?)del
|
|
|
NC_000016.9:g.(?_89882935)_(89883024_?)dup
|
|
|
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.522+715_2852+656del
|
|
|
NM_000135.2:c.523_2601del
|
|
|
NM_000135.2:c.894_2641del
|
|
|
NM_000135.4(FANCA):c.1000C>G (p.Leu334Val)
|
|
|
NM_000135.4(FANCA):c.1000C>T (p.Leu334=)
|
rs1405549284
|
|
NM_000135.4(FANCA):c.1006+10G>C
|
|
|
NM_000135.4(FANCA):c.1006+10G>T
|
rs762536802
|
|
NM_000135.4(FANCA):c.1006+11TG[3]
|
|
|
NM_000135.4(FANCA):c.1006+14G>C
|
|
|
NM_000135.4(FANCA):c.1006+19C>G
|
|
|
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.1006+6C>A
|
|
|
NM_000135.4(FANCA):c.1006+6C>T
|
|
|
NM_000135.4(FANCA):c.1007-10C>A
|
rs2040111171
|
|
NM_000135.4(FANCA):c.1007-10C>T
|
rs2040111171
|
|
NM_000135.4(FANCA):c.1007-13T>G
|
|
|
NM_000135.4(FANCA):c.1007-16G>C
|
|
|
NM_000135.4(FANCA):c.1007-16_1007-15del
|
|
|
NM_000135.4(FANCA):c.1007-18_1007-15del
|
|
|
NM_000135.4(FANCA):c.1007-1G>A
|
|
|
NM_000135.4(FANCA):c.1007-1del
|
rs2040110823
|
|
NM_000135.4(FANCA):c.1007-20G>A
|
|
|
NM_000135.4(FANCA):c.1007-2A>G
|
rs2040110878
|
|
NM_000135.4(FANCA):c.1007-2dup
|
rs2143534850
|
|
NM_000135.4(FANCA):c.1007-3C>A
|
|
|
NM_000135.4(FANCA):c.1007-5T>C
|
|
|
NM_000135.4(FANCA):c.1007-6C>G
|
rs770125368
|
|
NM_000135.4(FANCA):c.1007-7C>T
|
|
|
NM_000135.4(FANCA):c.1007-9C>T
|
|
|
NM_000135.4(FANCA):c.1012G>C (p.Asp338His)
|
|
|
NM_000135.4(FANCA):c.1014T>C (p.Asp338=)
|
|
|
NM_000135.4(FANCA):c.1017T>C (p.Ala339=)
|
|
|
NM_000135.4(FANCA):c.1023G>A (p.Gln341=)
|
rs2143534746
|
|
NM_000135.4(FANCA):c.1029G>A (p.Gln343=)
|
rs779989777
|
|
NM_000135.4(FANCA):c.1029G>C (p.Gln343His)
|
|
|
NM_000135.4(FANCA):c.102dup (p.Tyr35fs)
|
|
|
NM_000135.4(FANCA):c.1033G>A (p.Glu345Lys)
|
rs758168558
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.1034_1040del (p.Glu345fs)
|
rs2143534611
|
|
NM_000135.4(FANCA):c.1035G>A (p.Glu345=)
|
rs1044759612
|
|
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
|
|
|
NM_000135.4(FANCA):c.1038G>A (p.Trp346Ter)
|
|
|
NM_000135.4(FANCA):c.1041C>T (p.Ser347=)
|
|
|
NM_000135.4(FANCA):c.1046C>A (p.Ala349Glu)
|
rs142620413
|
|
NM_000135.4(FANCA):c.1047G>T (p.Ala349=)
|
|
|
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu)
|
rs199967286
|
|
NM_000135.4(FANCA):c.1050G>A (p.Arg350=)
|
|
|
NM_000135.4(FANCA):c.1057C>G (p.Pro353Ala)
|
rs1449343629
|
|
NM_000135.4(FANCA):c.1059T>A (p.Pro353=)
|
rs563820871
|
|
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
|
|
|
NM_000135.4(FANCA):c.1061T>A (p.Leu354Gln)
|
|
|
NM_000135.4(FANCA):c.1062G>C (p.Leu354=)
|
|
|
NM_000135.4(FANCA):c.1063C>A (p.Leu355Ile)
|
|
|
NM_000135.4(FANCA):c.1065C>A (p.Leu355=)
|
|
|
NM_000135.4(FANCA):c.1065C>G (p.Leu355=)
|
|
|
NM_000135.4(FANCA):c.1065C>T (p.Leu355=)
|
rs373366147
|
|
NM_000135.4(FANCA):c.1066A>T (p.Thr356Ser)
|
|
|
NM_000135.4(FANCA):c.1068C>A (p.Thr356=)
|
rs1161525939
|
|
NM_000135.4(FANCA):c.1068C>T (p.Thr356=)
|
rs1161525939
|
|
NM_000135.4(FANCA):c.106_108del (p.Asn36del)
|
rs1598202748
|
|
NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter)
|
rs773687142
|
|
NM_000135.4(FANCA):c.1070C>G (p.Ser357Ter)
|
rs773687142
|
|
NM_000135.4(FANCA):c.1071A>G (p.Ser357=)
|
rs1249860808
|
|
NM_000135.4(FANCA):c.1072C>T (p.Leu358=)
|
rs748337423
|
|
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.1076A>G (p.Tyr359Cys)
|
|
|
NM_000135.4(FANCA):c.1079G>A (p.Arg360His)
|
|
|
NM_000135.4(FANCA):c.1080C>A (p.Arg360=)
|
|
|
NM_000135.4(FANCA):c.1080C>T (p.Arg360=)
|
|
|
NM_000135.4(FANCA):c.1082G>C (p.Arg361Thr)
|
|
|
NM_000135.4(FANCA):c.1083+14G>C
|
rs2143534130
|
|
NM_000135.4(FANCA):c.1083+17T>C
|
|
|
NM_000135.4(FANCA):c.1083+18T>C
|
|
|
NM_000135.4(FANCA):c.1083+1G>A
|
|
|
NM_000135.4(FANCA):c.1083+20T>C
|
|
|
NM_000135.4(FANCA):c.1083+5G>A
|
rs1412210234
|
|
NM_000135.4(FANCA):c.1083+8G>C
|
|
|
NM_000135.4(FANCA):c.1083+8del
|
|
|
NM_000135.4(FANCA):c.1083+9A>T
|
rs1312747816
|
|
NM_000135.4(FANCA):c.1083G>A (p.Arg361=)
|
rs2143534230
|
|
NM_000135.4(FANCA):c.1084-10T>C
|
rs369884743
|
|
NM_000135.4(FANCA):c.1084-11T>G
|
|
|
NM_000135.4(FANCA):c.1084-13G>A
|
rs2143531033
|
|
NM_000135.4(FANCA):c.1084-14T>C
|
rs1267858023
|
|
NM_000135.4(FANCA):c.1084-16G>T
|
|
|
NM_000135.4(FANCA):c.1084-17G>A
|
|
|
NM_000135.4(FANCA):c.1084-19G>C
|
|
|
NM_000135.4(FANCA):c.1084-1G>A
|
rs2040094761
|
|
NM_000135.4(FANCA):c.1084-1G>T
|
|
|
NM_000135.4(FANCA):c.1084-5T>G
|
|
|
NM_000135.4(FANCA):c.1084-7del
|
rs780878272
|
|
NM_000135.4(FANCA):c.1084-8T>G
|
|
|
NM_000135.4(FANCA):c.1084-9T>C
|
|
|
NM_000135.4(FANCA):c.1084C>G (p.Leu362Val)
|
rs2040094709
|
|
NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro)
|
rs2040094645
|
|
NM_000135.4(FANCA):c.1086C>T (p.Leu362=)
|
rs2143530829
|
|
NM_000135.4(FANCA):c.1089T>C (p.Phe363=)
|
rs2143530797
|
|
NM_000135.4(FANCA):c.1093A>G (p.Met365Val)
|
rs2143530760
|
|
NM_000135.4(FANCA):c.1094T>G (p.Met365Arg)
|
rs2040094424
|
|
NM_000135.4(FANCA):c.1096C>G (p.Leu366Val)
|
|
|
NM_000135.4(FANCA):c.1096C>T (p.Leu366=)
|
|
|
NM_000135.4(FANCA):c.1097T>C (p.Leu366Pro)
|
rs2143530711
|
|
NM_000135.4(FANCA):c.1098G>A (p.Leu366=)
|
|
|
NM_000135.4(FANCA):c.1098G>C (p.Leu366=)
|
|
|
NM_000135.4(FANCA):c.1098G>T (p.Leu366=)
|
rs1598152908
|
|
NM_000135.4(FANCA):c.1101T>C (p.Ser367=)
|
|
|
NM_000135.4(FANCA):c.1102G>A (p.Ala368Thr)
|
rs1598152904
|
|
NM_000135.4(FANCA):c.1112T>C (p.Leu371Ser)
|
|
|
NM_000135.4(FANCA):c.1115T>C (p.Val372Ala)
|
rs2040093870
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1119C>G (p.Gly373=)
|
|
|
NM_000135.4(FANCA):c.1122T>C (p.His374=)
|
rs2143530454
|
|
NM_000135.4(FANCA):c.1123T>A (p.Leu375Met)
|
rs2040093515
|
|
NM_000135.4(FANCA):c.1123T>C (p.Leu375=)
|
rs2040093515
|
|
NM_000135.4(FANCA):c.1124T>G (p.Leu375Trp)
|
rs2040093463
|
|
NM_000135.4(FANCA):c.1126C>G (p.Gln376Glu)
|
rs2040093330
|
|
NM_000135.4(FANCA):c.1126C>T (p.Gln376Ter)
|
|
|
NM_000135.4(FANCA):c.1127A>G (p.Gln376Arg)
|
rs2143530391
|
|
NM_000135.4(FANCA):c.1135C>T (p.Leu379=)
|
rs969577700
|
|
NM_000135.4(FANCA):c.113A>C (p.Glu38Ala)
|
|
|
NM_000135.4(FANCA):c.1140A>G (p.Glu380=)
|
rs2143530276
|
|
NM_000135.4(FANCA):c.1142_1144delinsTTT (p.Thr381_Gln382delinsIleTer)
|
rs2040092520
|
|
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)
|
rs1800331
|
|
NM_000135.4(FANCA):c.1144C>G (p.Gln382Glu)
|
rs769718381
|
|
NM_000135.4(FANCA):c.1145A>G (p.Gln382Arg)
|
rs747766198
|
|
NM_000135.4(FANCA):c.1146G>A (p.Gln382=)
|
rs781015145
|
|
NM_000135.4(FANCA):c.1147del (p.Glu383fs)
|
rs2040092247
|
|
NM_000135.4(FANCA):c.1149G>A (p.Glu383=)
|
|
|
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile)
|
rs751071791
|
|
NM_000135.4(FANCA):c.1152T>G (p.Val384=)
|
|
|
NM_000135.4(FANCA):c.1153C>G (p.His385Asp)
|
|
|
NM_000135.4(FANCA):c.1154A>G (p.His385Arg)
|
|
|
NM_000135.4(FANCA):c.1155C>T (p.His385=)
|
|
|
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
|
rs752864343
|
|
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)
|
|
|
NM_000135.4(FANCA):c.1161G>C (p.Gln387His)
|
|
|
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.1167G>A (p.Val389=)
|
|
|
NM_000135.4(FANCA):c.1168C>A (p.Leu390Ile)
|
|
|
NM_000135.4(FANCA):c.1169T>G (p.Leu390Arg)
|
rs2143529925
|
|
NM_000135.4(FANCA):c.116G>C (p.Arg39Thr)
|
rs151089298
|
|
NM_000135.4(FANCA):c.1170C>G (p.Leu390=)
|
rs2143529917
|
|
NM_000135.4(FANCA):c.1170C>T (p.Leu390=)
|
|
|
NM_000135.4(FANCA):c.1173C>G (p.Ser391=)
|
rs2040091412
|
|
NM_000135.4(FANCA):c.1173C>T (p.Ser391=)
|
rs2040091412
|
|
NM_000135.4(FANCA):c.1179G>C (p.Val393=)
|
|
|
NM_000135.4(FANCA):c.1183G>A (p.Ala395Thr)
|
rs202062504
|
|
NM_000135.4(FANCA):c.1185C>G (p.Ala395=)
|
rs2143529838
|
|
NM_000135.4(FANCA):c.1185_1197del (p.Leu396fs)
|
rs2143529729
|
|
NM_000135.4(FANCA):c.1186C>G (p.Leu396Val)
|
|
|
NM_000135.4(FANCA):c.1186C>T (p.Leu396=)
|
|
|
NM_000135.4(FANCA):c.1188G>A (p.Leu396=)
|
|
|
NM_000135.4(FANCA):c.118dup (p.Ala40fs)
|
rs2143724113
|
|
NM_000135.4(FANCA):c.1193_1196del (p.Val398fs)
|
rs2040090895
|
|
NM_000135.4(FANCA):c.1194C>G (p.Val398=)
|
rs1158857420
|
|
NM_000135.4(FANCA):c.1194del (p.Cys399fs)
|
rs2040090995
|
|
NM_000135.4(FANCA):c.1195T>C (p.Cys399Arg)
|
rs2040090935
|
|
NM_000135.4(FANCA):c.1198T>C (p.Phe400Leu)
|
rs1360355945
|
|
NM_000135.4(FANCA):c.119C>T (p.Ala40Val)
|
rs563060518
|
|
NM_000135.4(FANCA):c.1202del (p.Pro401fs)
|
rs2040090741
|
|
NM_000135.4(FANCA):c.1208C>T (p.Ala403Val)
|
|
|
NM_000135.4(FANCA):c.1209G>T (p.Ala403=)
|
|
|
NM_000135.4(FANCA):c.1210C>T (p.Gln404Ter)
|
|
|
NM_000135.4(FANCA):c.1216C>A (p.Leu406Met)
|
|
|
NM_000135.4(FANCA):c.1216C>T (p.Leu406=)
|
|
|
NM_000135.4(FANCA):c.1218G>A (p.Leu406=)
|
rs2040090132
|
|
NM_000135.4(FANCA):c.121C>G (p.Gln41Glu)
|
rs764533094
|
|
NM_000135.4(FANCA):c.1220T>G (p.Leu407Arg)
|
rs2040089994
|
|
NM_000135.4(FANCA):c.1221T>C (p.Leu407=)
|
rs780963734
|
|
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)
|
|
|
NM_000135.4(FANCA):c.1225+10del
|
rs2143529499
|
|
NM_000135.4(FANCA):c.1225+13G>A
|
rs201201281
|
|
NM_000135.4(FANCA):c.1225+13G>C
|
rs201201281
|
|
NM_000135.4(FANCA):c.1225+15G>A
|
|
|
NM_000135.4(FANCA):c.1225+17G>A
|
|
|
NM_000135.4(FANCA):c.1225+17G>C
|
|
|
NM_000135.4(FANCA):c.1225+20C>A
|
rs199534742
|
|
NM_000135.4(FANCA):c.1225+20C>G
|
|
|
NM_000135.4(FANCA):c.1225+20C>T
|
rs199534742
|
|
NM_000135.4(FANCA):c.1225+20del
|
rs2143529337
|
|
NM_000135.4(FANCA):c.1225+2T>A
|
|
|
NM_000135.4(FANCA):c.1225+2T>G
|
|
|
NM_000135.4(FANCA):c.1225+7_1225+15del
|
rs2143529419
|
|
NM_000135.4(FANCA):c.1226-13G>A
|
rs377159744
|
|
NM_000135.4(FANCA):c.1226-18G>C
|
|
|
NM_000135.4(FANCA):c.1226-1G>C
|
rs1417768931
|
|
NM_000135.4(FANCA):c.1226-2A>C
|
|
|
NM_000135.4(FANCA):c.1226-6A>C
|
rs200953509
|
|
NM_000135.4(FANCA):c.1226-6A>G
|
|
|
NM_000135.4(FANCA):c.1226-6_1226-2del
|
rs2040076730
|
|
NM_000135.4(FANCA):c.1227C>T (p.Asp409=)
|
rs139944072
|
|
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
|
|
|
NM_000135.4(FANCA):c.123G>A (p.Gln41=)
|
|
|
NM_000135.4(FANCA):c.1245G>A (p.Met415Ile)
|
rs1555561439
|
|
NM_000135.4(FANCA):c.1255T>G (p.Phe419Val)
|
rs2143526434
|
|
NM_000135.4(FANCA):c.1256T>C (p.Phe419Ser)
|
|
|
NM_000135.4(FANCA):c.1257C>G (p.Phe419Leu)
|
rs764140346
|
|
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
|
|
|
NM_000135.4(FANCA):c.1259del (p.Glu420fs)
|
|
|
NM_000135.4(FANCA):c.1266C>T (p.Cys422=)
|
|
|
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)
|
rs774026652
|
|
NM_000135.4(FANCA):c.1268A>G (p.Gln423Arg)
|
|
|
NM_000135.4(FANCA):c.1269G>A (p.Gln423=)
|
|
|
NM_000135.4(FANCA):c.126A>G (p.Lys42=)
|
|
|
NM_000135.4(FANCA):c.1273G>C (p.Asp425His)
|
rs1555561398
|
|
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
|
|
|
NM_000135.4(FANCA):c.1275C>T (p.Asp425=)
|
|
|
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly)
|
rs985078327
|
|
NM_000135.4(FANCA):c.1277G>T (p.Ser426Ile)
|
|
|
NM_000135.4(FANCA):c.1278C>T (p.Ser426=)
|
|
|
NM_000135.4(FANCA):c.1281G>A (p.Met427Ile)
|
rs747322973
|
|
NM_000135.4(FANCA):c.1282G>A (p.Val428Ile)
|
rs1026686587
|
|
NM_000135.4(FANCA):c.1283T>C (p.Val428Ala)
|
|
|
NM_000135.4(FANCA):c.1285A>C (p.Thr429Pro)
|
|
|
NM_000135.4(FANCA):c.1286C>G (p.Thr429Ser)
|
|
|
NM_000135.4(FANCA):c.1286C>T (p.Thr429Ile)
|
rs1598151907
|
|
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
|
|
|
NM_000135.4(FANCA):c.1289C>G (p.Ala430Gly)
|
rs772567344
|
|
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.1294C>T (p.Leu432=)
|
rs1232228823
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1296G>A (p.Leu432=)
|
|
|
NM_000135.4(FANCA):c.1296G>C (p.Leu432=)
|
|
|
NM_000135.4(FANCA):c.1298T>C (p.Val433Ala)
|
rs1015816469
|
|
NM_000135.4(FANCA):c.129A>G (p.Leu43=)
|
rs902594434
|
|
NM_000135.4(FANCA):c.1300G>A (p.Val434Met)
|
|
|
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro)
|
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.1308G>C (p.Gln436His)
|
rs1316078638
|
|
NM_000135.4(FANCA):c.1311A>G (p.Ala437=)
|
rs2143525993
|
|
NM_000135.4(FANCA):c.1314A>C (p.Ala438=)
|
|
|
NM_000135.4(FANCA):c.1314A>T (p.Ala438=)
|
rs2143525963
|
|
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met)
|
rs1307948857
|
|
NM_000135.4(FANCA):c.1318G>T (p.Glu440Ter)
|
rs2040073991
|
|
NM_000135.4(FANCA):c.1323C>A (p.Gly441=)
|
|
|
NM_000135.4(FANCA):c.1323C>T (p.Gly441=)
|
rs1377621197
|
|
NM_000135.4(FANCA):c.1326C>G (p.Pro442=)
|
|
|
NM_000135.4(FANCA):c.1326C>T (p.Pro442=)
|
|
|
NM_000135.4(FANCA):c.1326del (p.Ser443fs)
|
|
|
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys)
|
rs367733447
|
|
NM_000135.4(FANCA):c.132G>A (p.Lys44=)
|
rs200428379
|
|
NM_000135.4(FANCA):c.1330G>A (p.Ala444Thr)
|
rs771047848
|
|
NM_000135.4(FANCA):c.1332G>T (p.Ala444=)
|
rs377705748
|
|
NM_000135.4(FANCA):c.1335C>T (p.Phe445=)
|
|
|
NM_000135.4(FANCA):c.1336C>T (p.Leu446=)
|
|
|
NM_000135.4(FANCA):c.1338G>T (p.Leu446=)
|
|
|
NM_000135.4(FANCA):c.1339del (p.Ser447fs)
|
rs2143525756
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
NM_000135.4(FANCA):c.1341A>G (p.Ser447=)
|
rs895188167
|
|
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.1343_1344del (p.Tyr448fs)
|
rs2143525701
|
|
NM_000135.4(FANCA):c.1344T>G (p.Tyr448Ter)
|
rs1199670660
|
|
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr)
|
rs2040073158
|
|
NM_000135.4(FANCA):c.1348G>C (p.Asp450His)
|
|
|
NM_000135.4(FANCA):c.1348G>T (p.Asp450Tyr)
|
rs1262122499
|
|
NM_000135.4(FANCA):c.1349A>T (p.Asp450Val)
|
rs1213289620
|
|
NM_000135.4(FANCA):c.1351T>G (p.Trp451Gly)
|
rs2040072996
|
|
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
|
|
|
NM_000135.4(FANCA):c.1353G>A (p.Trp451Ter)
|
rs2143525603
|
|
NM_000135.4(FANCA):c.1356C>T (p.Phe452=)
|
|
|
NM_000135.4(FANCA):c.1358A>G (p.Lys453Arg)
|
rs139248966
|
|
NM_000135.4(FANCA):c.1359+10C>G
|
rs34159559
|
|
NM_000135.4(FANCA):c.1359+12G>A
|
|
|
NM_000135.4(FANCA):c.1359+14del
|
rs2143525386
|
|
NM_000135.4(FANCA):c.1359+16A>T
|
rs200016746
|
|
NM_000135.4(FANCA):c.1359+18C>T
|
|
|
NM_000135.4(FANCA):c.1359+19G>A
|
|
|
NM_000135.4(FANCA):c.1359+1G>C
|
rs1555561294
|
|
NM_000135.4(FANCA):c.1359+20G>T
|
|
|
NM_000135.4(FANCA):c.1359+3A>G
|
|
|
NM_000135.4(FANCA):c.1359+4A>T
|
rs35476732
|
|
NM_000135.4(FANCA):c.1359+7G>A
|
rs749311482
|
|
NM_000135.4(FANCA):c.1359+8A>G
|
|
|
NM_000135.4(FANCA):c.1359+9C>A
|
rs375487246
|
|
NM_000135.4(FANCA):c.1359+9C>T
|
rs375487246
|
|
NM_000135.4(FANCA):c.1360-10C>T
|
|
|
NM_000135.4(FANCA):c.1360-13T>A
|
|
|
NM_000135.4(FANCA):c.1360-13TC[2]
|
rs1598140813
|
|
NM_000135.4(FANCA):c.1360-16_1363dup
|
rs1555556321
|
|
NM_000135.4(FANCA):c.1360-17C>T
|
|
|
NM_000135.4(FANCA):c.1360-18G>C
|
|
|
NM_000135.4(FANCA):c.1360-2A>G
|
|
|
NM_000135.4(FANCA):c.1360-4A>G
|
rs746911316
|
|
NM_000135.4(FANCA):c.1360-5C>T
|
rs2143477318
|
|
NM_000135.4(FANCA):c.1360-64_1360del
|
rs2143477254
|
|
NM_000135.4(FANCA):c.1360-8C>T
|
rs1407800718
|
|
NM_000135.4(FANCA):c.1364C>A (p.Ser455Tyr)
|
|
|
NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser)
|
|
|
NM_000135.4(FANCA):c.1371G>A (p.Gly457=)
|
rs369988875
|
|
NM_000135.4(FANCA):c.1374C>T (p.Ser458=)
|
|
|
NM_000135.4(FANCA):c.1378C>A (p.Arg460=)
|
rs1438828232
|
|
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)
|
rs1438828232
|
|
NM_000135.4(FANCA):c.137C>G (p.Ser46Ter)
|
rs2041098068
|
|
NM_000135.4(FANCA):c.137C>T (p.Ser46Leu)
|
rs2041098068
|
|
NM_000135.4(FANCA):c.1380A>T (p.Arg460=)
|
|
|
NM_000135.4(FANCA):c.1383C>T (p.Gly461=)
|
|
|
NM_000135.4(FANCA):c.1386C>T (p.Tyr462=)
|
rs2143477066
|
|
NM_000135.4(FANCA):c.1388A>G (p.His463Arg)
|
rs2039847321
|
|
NM_000135.4(FANCA):c.1389T>C (p.His463=)
|
rs756913331
|
|
NM_000135.4(FANCA):c.1392C>A (p.Gly464=)
|
rs2143477008
|
|
NM_000135.4(FANCA):c.1392C>T (p.Gly464=)
|
rs2143477008
|
|
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser)
|
rs2039847109
|
|
NM_000135.4(FANCA):c.1399A>G (p.Lys467Glu)
|
|
|
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr)
|
rs1190475225
|
|
NM_000135.4(FANCA):c.139G>C (p.Ala47Pro)
|
|
|
NM_000135.4(FANCA):c.1400A>G (p.Lys467Arg)
|
rs2143476944
|
|
NM_000135.4(FANCA):c.1403A>C (p.Lys468Thr)
|
rs1598140745
|
|
NM_000135.4(FANCA):c.1403A>G (p.Lys468Arg)
|
rs1598140745
|
|
NM_000135.4(FANCA):c.1405G>T (p.Ala469Ser)
|
rs1236726652
|
|
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val)
|
rs2039846606
|
|
NM_000135.4(FANCA):c.1407C>T (p.Ala469=)
|
rs1325894062
|
|
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.1410G>C (p.Leu470=)
|
rs2143476857
|
|
NM_000135.4(FANCA):c.1413C>A (p.Val471=)
|
|
|
NM_000135.4(FANCA):c.1413C>G (p.Val471=)
|
rs201561753
|
|
NM_000135.4(FANCA):c.1417del (p.Leu473fs)
|
rs2039846326
|
|
NM_000135.4(FANCA):c.1418T>C (p.Leu473Pro)
|
|
|
NM_000135.4(FANCA):c.1425G>C (p.Thr475=)
|
|
|
NM_000135.4(FANCA):c.1428C>G (p.Phe476Leu)
|
|
|
NM_000135.4(FANCA):c.1430del (p.Leu477fs)
|
rs2039845956
|
|
NM_000135.4(FANCA):c.1433C>G (p.Ser478Ter)
|
rs1432415523
|
|
NM_000135.4(FANCA):c.1434A>C (p.Ser478=)
|
|
|
NM_000135.4(FANCA):c.1434A>G (p.Ser478=)
|
|
|
NM_000135.4(FANCA):c.1437A>G (p.Glu479=)
|
rs2143476678
|
|
NM_000135.4(FANCA):c.1438C>T (p.Leu480Phe)
|
rs1444498671
|
|
NM_000135.4(FANCA):c.1439T>G (p.Leu480Arg)
|
rs2143476647
|
|
NM_000135.4(FANCA):c.1440C>A (p.Leu480=)
|
|
|
NM_000135.4(FANCA):c.1440C>G (p.Leu480=)
|
rs1401053307
|
|
NM_000135.4(FANCA):c.1441G>A (p.Val481Met)
|
|
|
NM_000135.4(FANCA):c.1443G>A (p.Val481=)
|
|
|
NM_000135.4(FANCA):c.1444C>T (p.Pro482Ser)
|
|
|
NM_000135.4(FANCA):c.144G>A (p.Val48=)
|
rs2143723828
|
|
NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter)
|
rs2039845162
|
|
NM_000135.4(FANCA):c.1454C>A (p.Ser485Tyr)
|
|
|
NM_000135.4(FANCA):c.1454C>T (p.Ser485Phe)
|
rs760790832
|
|
NM_000135.4(FANCA):c.1456C>A (p.Pro486Thr)
|
|
|
NM_000135.4(FANCA):c.1456C>T (p.Pro486Ser)
|
|
|
NM_000135.4(FANCA):c.1459C>G (p.Arg487Gly)
|
rs143083764
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.145C>A (p.Arg49Ser)
|
|
|
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly)
|
rs929925295
|
|
NM_000135.4(FANCA):c.1461G>A (p.Arg487=)
|
rs770851522
|
|
NM_000135.4(FANCA):c.1461G>C (p.Arg487=)
|
rs770851522
|
|
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)
|
rs2039844441
|
|
NM_000135.4(FANCA):c.1465C>T (p.Leu489=)
|
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
|
NM_000135.4(FANCA):c.146G>A (p.Arg49His)
|
|
|
NM_000135.4(FANCA):c.1470+13C>G
|
|
|
NM_000135.4(FANCA):c.1470+17C>T
|
rs2039843549
|
|
NM_000135.4(FANCA):c.1470+19C>T
|
|
|
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.1470+6A>G
|
|
|
NM_000135.4(FANCA):c.1470+7A>C
|
|
|
NM_000135.4(FANCA):c.1470G>A (p.Gln490=)
|
rs2039844218
|
|
NM_000135.4(FANCA):c.1470G>C (p.Gln490His)
|
rs2039844218
|
|
NM_000135.4(FANCA):c.1471-10C>G
|
rs368356709
|
|
NM_000135.4(FANCA):c.1471-12A>C
|
|
|
NM_000135.4(FANCA):c.1471-13TATC[3]
|
|
|
NM_000135.4(FANCA):c.1471-14C>G
|
rs764284226
|
|
NM_000135.4(FANCA):c.1471-15G>A
|
|
|
NM_000135.4(FANCA):c.1471-1G>T
|
rs2039777078
|
|
NM_000135.4(FANCA):c.1471-20G>C
|
rs374579239
|
|
NM_000135.4(FANCA):c.1471-20G>T
|
|
|
NM_000135.4(FANCA):c.1471-5C>T
|
rs1035775047
|
|
NM_000135.4(FANCA):c.1471-738_1627-883del
|
|
|
NM_000135.4(FANCA):c.1471-7T>A
|
|
|
NM_000135.4(FANCA):c.1471-9T>C
|
rs990892001
|
|
NM_000135.4(FANCA):c.1471-9_1471-6del
|
rs1372488492
|
|
NM_000135.4(FANCA):c.1472_1566+1del
|
rs1567628967
|
|
NM_000135.4(FANCA):c.1473G>T (p.Val491=)
|
|
|
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.1476C>T (p.His492=)
|
|
|
NM_000135.4(FANCA):c.1476_1477del (p.Ile493fs)
|
rs1555554788
|
|
NM_000135.4(FANCA):c.147C>G (p.Arg49=)
|
rs762962148
|
|
NM_000135.4(FANCA):c.147C>T (p.Arg49=)
|
rs762962148
|
|
NM_000135.4(FANCA):c.1482C>A (p.Leu494=)
|
|
|
NM_000135.4(FANCA):c.1482C>G (p.Leu494=)
|
rs1431996844
|
|
NM_000135.4(FANCA):c.1482C>T (p.Leu494=)
|
|
|
NM_000135.4(FANCA):c.1483C>G (p.His495Asp)
|
|
|
NM_000135.4(FANCA):c.1483C>T (p.His495Tyr)
|
|
|
NM_000135.4(FANCA):c.1491C>G (p.Pro497=)
|
|
|
NM_000135.4(FANCA):c.1492C>G (p.Leu498Val)
|
rs1486117630
|
|
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
|
|
|
NM_000135.4(FANCA):c.1494G>A (p.Leu498=)
|
|
|
NM_000135.4(FANCA):c.1494G>C (p.Leu498=)
|
rs747718961
|
|
NM_000135.4(FANCA):c.1498C>G (p.Pro500Ala)
|
rs776371246
|
|
NM_000135.4(FANCA):c.149T>C (p.Leu50Pro)
|
rs2143723758
|
|
NM_000135.4(FANCA):c.1500_1501delinsTA (p.Gly501Ser)
|
rs1598136992
|
|
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer)
|
rs878853661
|
|
NM_000135.4(FANCA):c.1503C>G (p.Gly501=)
|
|
|
NM_000135.4(FANCA):c.1504A>G (p.Lys502Glu)
|
|
|
NM_000135.4(FANCA):c.1505dup (p.Tyr503fs)
|
|
|
NM_000135.4(FANCA):c.1508dup (p.Tyr503Ter)
|
rs2039775751
|
|
NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter)
|
rs1598136954
|
|
NM_000135.4(FANCA):c.1509C>T (p.Tyr503=)
|
rs1598136954
|
|
NM_000135.4(FANCA):c.150C>A (p.Leu50=)
|
|
|
NM_000135.4(FANCA):c.150C>G (p.Leu50=)
|
rs1322931574
|
|
NM_000135.4(FANCA):c.150C>T (p.Leu50=)
|
rs1322931574
|
|
NM_000135.4(FANCA):c.1511G>A (p.Arg504His)
|
rs778045457
|
|
NM_000135.4(FANCA):c.1511G>T (p.Arg504Leu)
|
|
|
NM_000135.4(FANCA):c.1515C>T (p.Ser505=)
|
|
|
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)
|
rs781524409
|
|
NM_000135.4(FANCA):c.151C>G (p.Leu51Val)
|
rs1287320584
|
|
NM_000135.4(FANCA):c.151C>T (p.Leu51=)
|
rs1287320584
|
|
NM_000135.4(FANCA):c.1527C>G (p.Asp509Glu)
|
rs755009951
|
|
NM_000135.4(FANCA):c.1530C>T (p.Tyr510=)
|
|
|
NM_000135.4(FANCA):c.1534del (p.Ser512fs)
|
|
|
NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter)
|
rs2039774778
|
|
NM_000135.4(FANCA):c.153G>A (p.Leu51=)
|
rs76278570
|
|
NM_000135.4(FANCA):c.153G>T (p.Leu51=)
|
|
|
NM_000135.4(FANCA):c.1542C>G (p.Ala514=)
|
rs962460972
|
|
NM_000135.4(FANCA):c.1542C>T (p.Ala514=)
|
rs962460972
|
|
NM_000135.4(FANCA):c.1556C>G (p.Ala519Gly)
|
|
|
NM_000135.4(FANCA):c.1559A>C (p.Asp520Ala)
|
|
|
NM_000135.4(FANCA):c.155G>A (p.Arg52Gln)
|
|
|
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
|
|
|
NM_000135.4(FANCA):c.1560C>G (p.Asp520Glu)
|
rs1486566215
|
|
NM_000135.4(FANCA):c.1561C>T (p.Leu521Phe)
|
|
|
NM_000135.4(FANCA):c.1564A>G (p.Lys522Glu)
|
rs1555554630
|
|
NM_000135.4(FANCA):c.1566+10C>A
|
rs774919321
|
|
NM_000135.4(FANCA):c.1566+10C>G
|
|
|
NM_000135.4(FANCA):c.1566+10C>T
|
rs774919321
|
|
NM_000135.4(FANCA):c.1566+12C>G
|
|
|
NM_000135.4(FANCA):c.1566+12_1566+15del
|
|
|
NM_000135.4(FANCA):c.1566+14C>T
|
|
|
NM_000135.4(FANCA):c.1566+15C>T
|
|
|
NM_000135.4(FANCA):c.1566+16A>G
|
|
|
NM_000135.4(FANCA):c.1566+19C>A
|
rs2143460183
|
|
NM_000135.4(FANCA):c.1566+1G>T
|
|
|
NM_000135.4(FANCA):c.1566+20C>G
|
|
|
NM_000135.4(FANCA):c.1566+2C>G
|
|
|
NM_000135.4(FANCA):c.1566+2C>T
|
rs1316950815
|
|
NM_000135.4(FANCA):c.1566+3A>C
|
rs2039773398
|
|
NM_000135.4(FANCA):c.1566+5G>A
|
rs760087031
|
|
NM_000135.4(FANCA):c.1566+9T>G
|
rs1045659143
|
|
NM_000135.4(FANCA):c.1567-11C>G
|
|
|
NM_000135.4(FANCA):c.1567-13G>A
|
rs2143459544
|
|
NM_000135.4(FANCA):c.1567-13_1567-12del
|
|
|
NM_000135.4(FANCA):c.1567-15G>A
|
|
|
NM_000135.4(FANCA):c.1567-15_1567-10del
|
rs2143459500
|
|
NM_000135.4(FANCA):c.1567-16T>C
|
|
|
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.1570T>C (p.Ser524Pro)
|
|
|
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys)
|
rs753719658
|
|
NM_000135.4(FANCA):c.1572T>C (p.Ser524=)
|
|
|
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu)
|
rs755925068
|
|
NM_000135.4(FANCA):c.1576G>T (p.Glu526Ter)
|
|
|
NM_000135.4(FANCA):c.1578A>G (p.Glu526=)
|
rs2143459307
|
|
NM_000135.4(FANCA):c.1581C>T (p.Asn527=)
|
rs1244511322
|
|
NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter)
|
rs2039768709
|
|
NM_000135.4(FANCA):c.1587A>G (p.Gly529=)
|
rs1300063021
|
|
NM_000135.4(FANCA):c.1588C>G (p.Leu530Val)
|
rs1567628801
|
|
NM_000135.4(FANCA):c.1588C>T (p.Leu530Phe)
|
rs1567628801
|
|
NM_000135.4(FANCA):c.1590_1591del (p.Tyr531fs)
|
rs2143459144
|
|
NM_000135.4(FANCA):c.1593C>A (p.Tyr531Ter)
|
rs762342197
|
|
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln)
|
rs374490484
|
|
NM_000135.4(FANCA):c.1596G>A (p.Glu532=)
|
|
|
NM_000135.4(FANCA):c.1597G>T (p.Asp533Tyr)
|
|
|
NM_000135.4(FANCA):c.159C>T (p.Ser53=)
|
|
|
NM_000135.4(FANCA):c.1606T>G (p.Ser536Ala)
|
|
|
NM_000135.4(FANCA):c.1606del (p.Ser536fs)
|
rs587776570
|
|
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)
|
rs769047348
|
|
NM_000135.4(FANCA):c.1607C>T (p.Ser536Leu)
|
|
|
NM_000135.4(FANCA):c.1608A>G (p.Ser536=)
|
|
|
NM_000135.4(FANCA):c.1614G>C (p.Gly538=)
|
|
|
NM_000135.4(FANCA):c.1615del (p.Asp539fs)
|
rs778507965
|
|
NM_000135.4(FANCA):c.1615dup (p.Asp539fs)
|
|
|
NM_000135.4(FANCA):c.1618A>G (p.Ile540Val)
|
|
|
NM_000135.4(FANCA):c.1620T>C (p.Ile540=)
|
rs1200375986
|
|
NM_000135.4(FANCA):c.1624G>A (p.Glu542Lys)
|
|
|
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val)
|
rs587778310
|
|
NM_000135.4(FANCA):c.1626+14A>G
|
|
|
NM_000135.4(FANCA):c.1626+16C>A
|
rs1800333
|
|
NM_000135.4(FANCA):c.1626+17C>G
|
|
|
NM_000135.4(FANCA):c.1626+17C>T
|
rs777619836
|
|
NM_000135.4(FANCA):c.1626+18C>T
|
|
|
NM_000135.4(FANCA):c.1626+20G>A
|
|
|
NM_000135.4(FANCA):c.1626+5T>A
|
rs2143458841
|
|
NM_000135.4(FANCA):c.1626+5T>C
|
|
|
NM_000135.4(FANCA):c.1626+6G>A
|
|
|
NM_000135.4(FANCA):c.1626+8T>A
|
rs746097975
|
|
NM_000135.4(FANCA):c.1626+967_2015-679del
|
|
|
NM_000135.4(FANCA):c.1626G>A (p.Glu542=)
|
rs2143458860
|
|
NM_000135.4(FANCA):c.1627-10T>C
|
|
|
NM_000135.4(FANCA):c.1627-11A>G
|
|
|
NM_000135.4(FANCA):c.1627-15C>G
|
|
|
NM_000135.4(FANCA):c.1627-16C>G
|
|
|
NM_000135.4(FANCA):c.1627-17C>G
|
|
|
NM_000135.4(FANCA):c.1627-17C>T
|
|
|
NM_000135.4(FANCA):c.1627-19C>T
|
rs2039645766
|
|
NM_000135.4(FANCA):c.1627-1G>T
|
rs2039644862
|
|
NM_000135.4(FANCA):c.1627-29_1627-8del
|
rs2143433096
|
|
NM_000135.4(FANCA):c.1627-2A>G
|
rs2143433058
|
|
NM_000135.4(FANCA):c.1627-4C>T
|
|
|
NM_000135.4(FANCA):c.1627-5A>G
|
rs2039645024
|
|
NM_000135.4(FANCA):c.1627-8G>T
|
|
|
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser)
|
rs763074159
|
|
NM_000135.4(FANCA):c.1628C>T (p.Pro543Leu)
|
rs2039644737
|
|
NM_000135.4(FANCA):c.1629C>G (p.Pro543=)
|
rs2143433021
|
|
NM_000135.4(FANCA):c.1630del (p.His544fs)
|
|
|
NM_000135.4(FANCA):c.1630dup (p.His544fs)
|
rs1598129626
|
|
NM_000135.4(FANCA):c.1633A>G (p.Ser545Gly)
|
|
|
NM_000135.4(FANCA):c.1634G>C (p.Ser545Thr)
|
|
|
NM_000135.4(FANCA):c.1639G>C (p.Ala547Pro)
|
rs2039644384
|
|
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)
|
rs1555580427
|
|
NM_000135.4(FANCA):c.1642C>G (p.Leu548Val)
|
|
|
NM_000135.4(FANCA):c.1642C>T (p.Leu548Phe)
|
|
|
NM_000135.4(FANCA):c.1647G>A (p.Gln549=)
|
|
|
NM_000135.4(FANCA):c.1647G>C (p.Gln549His)
|
|
|
NM_000135.4(FANCA):c.1651G>A (p.Val551Ile)
|
rs2039643856
|
|
NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter)
|
|
|
NM_000135.4(FANCA):c.1659G>A (p.Lys553=)
|
|
|
NM_000135.4(FANCA):c.1660G>A (p.Ala554Thr)
|
rs2143432789
|
|
NM_000135.4(FANCA):c.1662C>T (p.Ala554=)
|
rs1235279691
|
|
NM_000135.4(FANCA):c.1665C>A (p.Ile555=)
|
rs757932868
|
|
NM_000135.4(FANCA):c.1665C>G (p.Ile555Met)
|
|
|
NM_000135.4(FANCA):c.166G>A (p.Asp56Asn)
|
rs1360481164
|
|
NM_000135.4(FANCA):c.1671G>A (p.Val557=)
|
|
|
NM_000135.4(FANCA):c.1677G>A (p.Glu559=)
|
|
|
NM_000135.4(FANCA):c.1679A>C (p.His560Pro)
|
rs759940726
|
|
NM_000135.4(FANCA):c.1679A>G (p.His560Arg)
|
|
|
NM_000135.4(FANCA):c.167A>C (p.Asp56Ala)
|
|
|
NM_000135.4(FANCA):c.1680T>C (p.His560=)
|
rs2143432638
|
|
NM_000135.4(FANCA):c.1681A>T (p.Thr561Ser)
|
rs2143432620
|
|
NM_000135.4(FANCA):c.1682C>G (p.Thr561Arg)
|
rs148154682
|
|
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met)
|
rs148154682
|
|
NM_000135.4(FANCA):c.1683G>C (p.Thr561=)
|
|
|
NM_000135.4(FANCA):c.1683_1689del (p.Gly562fs)
|
rs2039643136
|
|
NM_000135.4(FANCA):c.1686G>A (p.Gly562=)
|
rs1457207387
|
|
NM_000135.4(FANCA):c.1686G>T (p.Gly562=)
|
|
|
NM_000135.4(FANCA):c.168C>T (p.Asp56=)
|
|
|
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del)
|
rs1060501881
|
|
NM_000135.4(FANCA):c.1690A>G (p.Ile564Val)
|
|
|
NM_000135.4(FANCA):c.1691T>C (p.Ile564Thr)
|
rs769842591
|
|
NM_000135.4(FANCA):c.1698C>T (p.Val566=)
|
|
|
NM_000135.4(FANCA):c.1699A>G (p.Thr567Ala)
|
|
|
NM_000135.4(FANCA):c.1700C>G (p.Thr567Ser)
|
rs775083851
|
|
NM_000135.4(FANCA):c.1701C>A (p.Thr567=)
|
rs745466726
|
|
NM_000135.4(FANCA):c.1702G>C (p.Val568Leu)
|
rs778754162
|
|
NM_000135.4(FANCA):c.1703del (p.Val568fs)
|
rs2039642419
|
|
NM_000135.4(FANCA):c.1704C>G (p.Val568=)
|
rs914213734
|
|
NM_000135.4(FANCA):c.1704C>T (p.Val568=)
|
|
|
NM_000135.4(FANCA):c.1705A>G (p.Met569Val)
|
|
|
NM_000135.4(FANCA):c.1709A>G (p.Glu570Gly)
|
rs2039642209
|
|
NM_000135.4(FANCA):c.1709_1715+4del
|
rs2039641869
|
|
NM_000135.4(FANCA):c.1712C>T (p.Ala571Val)
|
|
|
NM_000135.4(FANCA):c.1715+13G>T
|
|
|
NM_000135.4(FANCA):c.1715+14C>G
|
|
|
NM_000135.4(FANCA):c.1715+15C>A
|
rs755381554
|
|
NM_000135.4(FANCA):c.1715+1G>A
|
|
|
NM_000135.4(FANCA):c.1715+1G>T
|
rs1555552506
|
|
NM_000135.4(FANCA):c.1715+3_1715+13del
|
rs2143432038
|
|
NM_000135.4(FANCA):c.1715+4G>A
|
|
|
NM_000135.4(FANCA):c.1715+7T>C
|
|
|
NM_000135.4(FANCA):c.1715+8G>A
|
rs1209332039
|
|
NM_000135.4(FANCA):c.1716-11C>G
|
|
|
NM_000135.4(FANCA):c.1716-13C>G
|
|
|
NM_000135.4(FANCA):c.1716-14T>C
|
|
|
NM_000135.4(FANCA):c.1716-16C>A
|
rs942124383
|
|
NM_000135.4(FANCA):c.1716-16C>T
|
rs942124383
|
|
NM_000135.4(FANCA):c.1716-18T>C
|
|
|
NM_000135.4(FANCA):c.1716-2A>G
|
|
|
NM_000135.4(FANCA):c.1716-6T>C
|
rs2143424754
|
|
NM_000135.4(FANCA):c.1716-6_1716-5dup
|
|
|
NM_000135.4(FANCA):c.1716-7_1716-6del
|
rs1252205510
|
|
NM_000135.4(FANCA):c.1716-9G>A
|
|
|
NM_000135.4(FANCA):c.1716-9G>T
|
|
|
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter)
|
rs2041096125
|
|
NM_000135.4(FANCA):c.1722C>T (p.Phe574=)
|
|
|
NM_000135.4(FANCA):c.1727G>C (p.Arg576Thr)
|
rs1047794894
|
|
NM_000135.4(FANCA):c.1733A>G (p.Tyr578Cys)
|
rs2143424595
|
|
NM_000135.4(FANCA):c.1736A>G (p.Tyr579Cys)
|
|
|
NM_000135.4(FANCA):c.1737C>A (p.Tyr579Ter)
|
|
|
NM_000135.4(FANCA):c.1738_1742delinsCCGCCT (p.Val580fs)
|
rs2039611494
|
|
NM_000135.4(FANCA):c.1739T>G (p.Val580Gly)
|
rs2143424514
|
|
NM_000135.4(FANCA):c.173dup (p.Asn58fs)
|
rs2041095962
|
|
NM_000135.4(FANCA):c.1743C>T (p.Ser581=)
|
rs2039611416
|
|
NM_000135.4(FANCA):c.1746C>T (p.His582=)
|
|
|
NM_000135.4(FANCA):c.1748del (p.Phe583fs)
|
|
|
NM_000135.4(FANCA):c.174T>C (p.Asn58=)
|
rs2143723506
|
|
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val)
|
rs145459403
|
|
NM_000135.4(FANCA):c.1750del (p.Leu584fs)
|
rs2143424348
|
|
NM_000135.4(FANCA):c.1752C>T (p.Leu584=)
|
rs2039611137
|
|
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser)
|
rs2039611087
|
|
NM_000135.4(FANCA):c.1755C>A (p.Pro585=)
|
|
|
NM_000135.4(FANCA):c.1755C>T (p.Pro585=)
|
rs144704750
|
|
NM_000135.4(FANCA):c.1757C>T (p.Ala586Val)
|
|
|
NM_000135.4(FANCA):c.1758C>A (p.Ala586=)
|
rs765437064
|
|
NM_000135.4(FANCA):c.1758C>T (p.Ala586=)
|
rs765437064
|
|
NM_000135.4(FANCA):c.1764C>T (p.Leu588=)
|
|
|
NM_000135.4(FANCA):c.1769C>G (p.Pro590Arg)
|
rs757637315
|
|
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)
|
rs753980264
|
|
NM_000135.4(FANCA):c.1773A>C (p.Arg591=)
|
rs2143423976
|
|
NM_000135.4(FANCA):c.1776+13C>G
|
rs371272310
|
|
NM_000135.4(FANCA):c.1776+15C>G
|
rs376346254
|
|
NM_000135.4(FANCA):c.1776+15C>T
|
|
|
NM_000135.4(FANCA):c.1776+16C>T
|
|
|
NM_000135.4(FANCA):c.1776+17A>G
|
rs2143423790
|
|
NM_000135.4(FANCA):c.1776+5G>A
|
|
|
NM_000135.4(FANCA):c.1776+7A>G
|
rs1555552070
|
|
NM_000135.4(FANCA):c.1776+8T>G
|
rs2143423903
|
|
NM_000135.4(FANCA):c.1776+9G>A
|
rs752878349
|
|
NM_000135.4(FANCA):c.1776+9G>C
|
rs752878349
|
|
NM_000135.4(FANCA):c.1777-10C>A
|
rs781605892
|
|
NM_000135.4(FANCA):c.1777-12C>G
|
|
|
NM_000135.4(FANCA):c.1777-13dup
|
|
|
NM_000135.4(FANCA):c.1777-15C>T
|
rs371919426
|
|
NM_000135.4(FANCA):c.1777-17C>G
|
|
|
NM_000135.4(FANCA):c.1777-19G>A
|
|
|
NM_000135.4(FANCA):c.1777-19G>C
|
|
|
NM_000135.4(FANCA):c.1777-2A>G
|
rs2143422990
|
|
NM_000135.4(FANCA):c.1777-3_1783del
|
rs2039605605
|
|
NM_000135.4(FANCA):c.1777-7C>A
|
|
|
NM_000135.4(FANCA):c.1777-7C>T
|
rs375148599
|
|
NM_000135.4(FANCA):c.1779C>A (p.Leu593=)
|
rs1016801509
|
|
NM_000135.4(FANCA):c.1779C>T (p.Leu593=)
|
rs1016801509
|
|
NM_000135.4(FANCA):c.177C>A (p.Ala59=)
|
rs1439661268
|
|
NM_000135.4(FANCA):c.1780C>T (p.Pro594Ser)
|
rs2039605850
|
|
NM_000135.4(FANCA):c.1782C>T (p.Pro594=)
|
|
|
NM_000135.4(FANCA):c.1786G>A (p.Val596Ile)
|
rs1391415619
|
|
NM_000135.4(FANCA):c.1788C>G (p.Val596=)
|
|
|
NM_000135.4(FANCA):c.1789C>T (p.Pro597Ser)
|
|
|
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.1795del (p.Ser599fs)
|
rs2143422776
|
|
NM_000135.4(FANCA):c.1796C>G (p.Ser599Cys)
|
rs562319781
|
|
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)
|
rs562319781
|
|
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)
|
rs1555552006
|
|
NM_000135.4(FANCA):c.1797C>A (p.Ser599=)
|
rs2039605171
|
|
NM_000135.4(FANCA):c.1797C>T (p.Ser599=)
|
rs2039605171
|
|
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro)
|
rs775917892
|
|
NM_000135.4(FANCA):c.1804G>T (p.Ala602Ser)
|
|
|
NM_000135.4(FANCA):c.1805C>G (p.Ala602Gly)
|
rs374968669
|
|
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
|
rs374968669
|
|
NM_000135.4(FANCA):c.1806G>C (p.Ala602=)
|
rs550064744
|
|
NM_000135.4(FANCA):c.1806G>T (p.Ala602=)
|
rs550064744
|
|
NM_000135.4(FANCA):c.1809T>C (p.Phe603=)
|
rs1336095406
|
|
NM_000135.4(FANCA):c.1809_1811dup (p.Ile604dup)
|
rs2039604604
|
|
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)
|
rs1343140664
|
|
NM_000135.4(FANCA):c.1810A>G (p.Ile604Val)
|
rs2039604673
|
|
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
|
|
|
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)
|
rs759899153
|
|
NM_000135.4(FANCA):c.1816T>G (p.Ser606Ala)
|
rs770164503
|
|
NM_000135.4(FANCA):c.1818T>C (p.Ser606=)
|
|
|
NM_000135.4(FANCA):c.1819C>T (p.Leu607=)
|
rs2143422308
|
|
NM_000135.4(FANCA):c.1819_1820del (p.Leu607fs)
|
rs2143422286
|
|
NM_000135.4(FANCA):c.1821G>C (p.Leu607=)
|
rs2143422265
|
|
NM_000135.4(FANCA):c.1821_1822insT (p.Lys608Ter)
|
rs2039604081
|
|
NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter)
|
rs938278864
|
|
NM_000135.4(FANCA):c.1824dup (p.Arg609fs)
|
rs1598127082
|
|
NM_000135.4(FANCA):c.1826+11A>G
|
|
|
NM_000135.4(FANCA):c.1826+12C>G
|
rs183513839
|
|
NM_000135.4(FANCA):c.1826+17A>G
|
|
|
NM_000135.4(FANCA):c.1826+17A>T
|
|
|
NM_000135.4(FANCA):c.1826+18G>T
|
|
|
NM_000135.4(FANCA):c.1826+20A>G
|
|
|
NM_000135.4(FANCA):c.1826+2T>A
|
rs2039603867
|
|
NM_000135.4(FANCA):c.1826+2T>C
|
|
|
NM_000135.4(FANCA):c.1826+3A>G
|
rs925559826
|
|
NM_000135.4(FANCA):c.1826+4T>A
|
rs979666807
|
|
NM_000135.4(FANCA):c.1826+4T>G
|
rs979666807
|
|
NM_000135.4(FANCA):c.1826+5G>A
|
|
|
NM_000135.4(FANCA):c.1826+6C>T
|
rs748528553
|
|
NM_000135.4(FANCA):c.1826+8G>A
|
|
|
NM_000135.4(FANCA):c.1826+9C>T
|
|
|
NM_000135.4(FANCA):c.1827-12C>G
|
|
|
NM_000135.4(FANCA):c.1827-12C>T
|
|
|
NM_000135.4(FANCA):c.1827-17G>C
|
|
|
NM_000135.4(FANCA):c.1827-20A>G
|
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
NM_000135.4(FANCA):c.1827-3C>G
|
rs772236777
|
|
NM_000135.4(FANCA):c.1827-4C>A
|
rs775772634
|
|
NM_000135.4(FANCA):c.1827-4C>G
|
rs775772634
|
|
NM_000135.4(FANCA):c.1827-5T>A
|
rs1378971647
|
|
NM_000135.4(FANCA):c.1827-9G>A
|
rs2143393607
|
|
NM_000135.4(FANCA):c.1829C>T (p.Ala610Val)
|
rs1598120974
|
|
NM_000135.4(FANCA):c.182T>G (p.Leu61Trp)
|
|
|
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
|
rs2041095238
|
|
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)
|
|
|
NM_000135.4(FANCA):c.1834A>G (p.Lys612Glu)
|
rs1433333223
|
|
NM_000135.4(FANCA):c.1839C>A (p.Ile613=)
|
rs1598120925
|
|
NM_000135.4(FANCA):c.1839C>T (p.Ile613=)
|
rs1598120925
|
|
NM_000135.4(FANCA):c.183G>A (p.Leu61=)
|
rs1447656431
|
|
NM_000135.4(FANCA):c.1840C>T (p.Pro614Ser)
|
|
|
NM_000135.4(FANCA):c.1842C>T (p.Pro614=)
|
rs769546891
|
|
NM_000135.4(FANCA):c.1843C>T (p.Pro615Ser)
|
rs1567623107
|
|
NM_000135.4(FANCA):c.1844C>T (p.Pro615Leu)
|
|
|
NM_000135.4(FANCA):c.1844dup (p.Ser616fs)
|
rs779375100
|
|
NM_000135.4(FANCA):c.1845A>G (p.Pro615=)
|
rs1490141721
|
|
NM_000135.4(FANCA):c.1847C>T (p.Ser616Phe)
|
|
|
NM_000135.4(FANCA):c.1849C>G (p.Leu617Val)
|
|
|
NM_000135.4(FANCA):c.1849C>T (p.Leu617=)
|
rs2143393232
|
|
NM_000135.4(FANCA):c.184C>G (p.Leu62Val)
|
rs2041094921
|
|
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)
|
rs2143393148
|
|
NM_000135.4(FANCA):c.1851G>A (p.Leu617=)
|
|
|
NM_000135.4(FANCA):c.1851G>C (p.Leu617=)
|
rs2143393205
|
|
NM_000135.4(FANCA):c.1854C>G (p.Tyr618Ter)
|
rs747994845
|
|
NM_000135.4(FANCA):c.1854C>T (p.Tyr618=)
|
rs747994845
|
|
NM_000135.4(FANCA):c.1856C>A (p.Ser619Tyr)
|
rs2039480405
|
|
NM_000135.4(FANCA):c.1857C>A (p.Ser619=)
|
|
|
NM_000135.4(FANCA):c.1860C>G (p.Thr620=)
|
|
|
NM_000135.4(FANCA):c.1863C>T (p.Tyr621=)
|
|
|
NM_000135.4(FANCA):c.1867C>T (p.Gln623Ter)
|
|
|
NM_000135.4(FANCA):c.1868A>G (p.Gln623Arg)
|
|
|
NM_000135.4(FANCA):c.1869G>A (p.Gln623=)
|
|
|
NM_000135.4(FANCA):c.186T>A (p.Leu62=)
|
rs1555580352
|
|
NM_000135.4(FANCA):c.1870G>T (p.Ala624Ser)
|
rs1403464170
|
|
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val)
|
rs146491000
|
|
NM_000135.4(FANCA):c.1872C>T (p.Ala624=)
|
rs571449307
|
|
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr)
|
rs139235751
|
|
NM_000135.4(FANCA):c.1875C>T (p.Cys625=)
|
|
|
NM_000135.4(FANCA):c.1876T>C (p.Ser626Pro)
|
|
|
NM_000135.4(FANCA):c.1877C>T (p.Ser626Phe)
|
rs769311485
|
|
NM_000135.4(FANCA):c.1879G>C (p.Ala627Pro)
|
|
|
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
|
|
|
NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)
|
|
|
NM_000135.4(FANCA):c.188A>C (p.Glu63Ala)
|
rs1567659053
|
|
NM_000135.4(FANCA):c.189+10A>G
|
|
|
NM_000135.4(FANCA):c.189+12C>T
|
|
|
NM_000135.4(FANCA):c.189+14G>A
|
|
|
NM_000135.4(FANCA):c.189+14G>T
|
|
|
NM_000135.4(FANCA):c.189+15G>C
|
|
|
NM_000135.4(FANCA):c.189+17G>T
|
|
|
NM_000135.4(FANCA):c.189+19C>T
|
|
|
NM_000135.4(FANCA):c.189+1G>A
|
rs891323617
|
|
NM_000135.4(FANCA):c.189+20C>A
|
|
|
NM_000135.4(FANCA):c.189+2T>A
|
rs2041094594
|
|
NM_000135.4(FANCA):c.189+3A>G
|
|
|
NM_000135.4(FANCA):c.189+3A>T
|
rs2143723295
|
|
NM_000135.4(FANCA):c.189+8G>A
|
rs2143723236
|
|
NM_000135.4(FANCA):c.1890G>C (p.Glu630Asp)
|
|
|
NM_000135.4(FANCA):c.1891A>G (p.Lys631Glu)
|
|
|
NM_000135.4(FANCA):c.190-146_284-1082del
|
|
|
NM_000135.4(FANCA):c.190-14G>A
|
|
|
NM_000135.4(FANCA):c.190-18T>C
|
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
NM_000135.4(FANCA):c.190-2A>G
|
|
|
NM_000135.4(FANCA):c.190-2_203del
|
rs2143711687
|
|
NM_000135.4(FANCA):c.190-494_597-592del
|
|
|
NM_000135.4(FANCA):c.190-5T>C
|
rs368486303
|
|
NM_000135.4(FANCA):c.190-7A>G
|
|
|
NM_000135.4(FANCA):c.190-7A>T
|
rs994179410
|
|
NM_000135.4(FANCA):c.190-8G>C
|
rs2143711952
|
|
NM_000135.4(FANCA):c.1900+10T>C
|
rs1225612280
|
|
NM_000135.4(FANCA):c.1900+12G>A
|
|
|
NM_000135.4(FANCA):c.1900+13G>A
|
|
|
NM_000135.4(FANCA):c.1900+14C>T
|
|
|
NM_000135.4(FANCA):c.1900+15C>T
|
|
|
NM_000135.4(FANCA):c.1900+1G>T
|
rs1598120768
|
|
NM_000135.4(FANCA):c.1900+1del
|
|
|
NM_000135.4(FANCA):c.1900+20G>T
|
|
|
NM_000135.4(FANCA):c.1900+6T>C
|
|
|
NM_000135.4(FANCA):c.1900+7T>C
|
rs377401016
|
|
NM_000135.4(FANCA):c.1900+8C>G
|
|
|
NM_000135.4(FANCA):c.1900+8C>T
|
|
|
NM_000135.4(FANCA):c.1901-13C>G
|
|
|
NM_000135.4(FANCA):c.1901-14C>A
|
|
|
NM_000135.4(FANCA):c.1901-17C>T
|
rs373785724
|
|
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.1901-3C>T
|
|
|
NM_000135.4(FANCA):c.1901-5C>G
|
rs1060504375
|
|
NM_000135.4(FANCA):c.1901-7C>G
|
rs1449605030
|
|
NM_000135.4(FANCA):c.1901-7C>T
|
|
|
NM_000135.4(FANCA):c.1901-7_1901-5del
|
rs2143367972
|
|
NM_000135.4(FANCA):c.1901-8_1901-6del
|
rs1263015757
|
|
NM_000135.4(FANCA):c.1901-9T>G
|
rs886052486
|
|
NM_000135.4(FANCA):c.1903G>A (p.Ala635Thr)
|
|
|
NM_000135.4(FANCA):c.1904C>A (p.Ala635Glu)
|
rs142217479
|
|
NM_000135.4(FANCA):c.1907C>T (p.Ala636Val)
|
rs2143367748
|
|
NM_000135.4(FANCA):c.1911G>A (p.Leu637=)
|
rs914305609
|
|
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)
|
rs2143367693
|
|
NM_000135.4(FANCA):c.1913G>A (p.Gly638Glu)
|
|
|
NM_000135.4(FANCA):c.1920G>A (p.Arg640=)
|
rs2039390557
|
|
NM_000135.4(FANCA):c.1921G>A (p.Ala641Thr)
|
rs867961005
|
|
NM_000135.4(FANCA):c.1923A>C (p.Ala641=)
|
rs2143367561
|
|
NM_000135.4(FANCA):c.1923A>G (p.Ala641=)
|
|
|
NM_000135.4(FANCA):c.1926A>C (p.Glu642Asp)
|
|
|
NM_000135.4(FANCA):c.1926A>G (p.Glu642=)
|
rs2039390337
|
|
NM_000135.4(FANCA):c.192A>G (p.Val64=)
|
|
|
NM_000135.4(FANCA):c.1931A>G (p.Asn644Ser)
|
rs924548467
|
|
NM_000135.4(FANCA):c.1932C>G (p.Asn644Lys)
|
rs1598116392
|
|
NM_000135.4(FANCA):c.1932C>T (p.Asn644=)
|
rs1598116392
|
|
NM_000135.4(FANCA):c.1934C>G (p.Ser645Cys)
|
|
|
NM_000135.4(FANCA):c.1935T>C (p.Ser645=)
|
rs2143367365
|
|
NM_000135.4(FANCA):c.1935T>G (p.Ser645=)
|
rs2143367365
|
|
NM_000135.4(FANCA):c.1940A>G (p.Glu647Gly)
|
rs1374330952
|
|
NM_000135.4(FANCA):c.1942G>A (p.Glu648Lys)
|
rs1427276212
|
|
NM_000135.4(FANCA):c.1945C>T (p.Pro649Ser)
|
|
|
NM_000135.4(FANCA):c.1947C>T (p.Pro649=)
|
|
|
NM_000135.4(FANCA):c.1948dup (p.Leu650fs)
|
|
|
NM_000135.4(FANCA):c.1949T>A (p.Leu650Gln)
|
|
|
NM_000135.4(FANCA):c.1950G>A (p.Leu650=)
|
|
|
NM_000135.4(FANCA):c.1950G>T (p.Leu650=)
|
|
|
NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter)
|
rs140785340
|
|
NM_000135.4(FANCA):c.1953del (p.Gln652fs)
|
|
|
NM_000135.4(FANCA):c.1959C>A (p.Leu653=)
|
rs368643963
|
|
NM_000135.4(FANCA):c.195A>C (p.Glu65Asp)
|
rs2041029016
|
|
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala)
|
rs1555549412
|
|
NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)
|
|
|
NM_000135.4(FANCA):c.1962A>C (p.Thr654=)
|
|
|
NM_000135.4(FANCA):c.1966G>A (p.Ala656Thr)
|
|
|
NM_000135.4(FANCA):c.1968A>C (p.Ala656=)
|
|
|
NM_000135.4(FANCA):c.196G>T (p.Gly66Cys)
|
|
|
NM_000135.4(FANCA):c.1971G>T (p.Leu657=)
|
rs1343452026
|
|
NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)
|
|
|
NM_000135.4(FANCA):c.1978C>T (p.Leu660=)
|
|
|
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro)
|
rs1567621042
|
|
NM_000135.4(FANCA):c.197G>A (p.Gly66Asp)
|
|
|
NM_000135.4(FANCA):c.1980G>T (p.Leu660=)
|
|
|
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter)
|
rs1060501878
|
|
NM_000135.4(FANCA):c.1985C>T (p.Ala662Val)
|
|
|
NM_000135.4(FANCA):c.1986C>A (p.Ala662=)
|
rs568935135
|
|
NM_000135.4(FANCA):c.1986C>G (p.Ala662=)
|
rs568935135
|
|
NM_000135.4(FANCA):c.1989C>T (p.Ser663=)
|
|
|
NM_000135.4(FANCA):c.1991T>G (p.Met664Arg)
|
|
|
NM_000135.4(FANCA):c.1998C>T (p.Asp666=)
|
|
|
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala)
|
rs147300317
|
|
NM_000135.4(FANCA):c.1999C>T (p.Pro667Ser)
|
rs147300317
|
|
NM_000135.4(FANCA):c.2000C>A (p.Pro667His)
|
rs755293596
|
|
NM_000135.4(FANCA):c.2000C>G (p.Pro667Arg)
|
|
|
NM_000135.4(FANCA):c.2000C>T (p.Pro667Leu)
|
rs755293596
|
|
NM_000135.4(FANCA):c.2001C>T (p.Pro667=)
|
|
|
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)
|
rs2143366568
|
|
NM_000135.4(FANCA):c.2003G>T (p.Ser668Ile)
|
|
|
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter)
|
rs2039386741
|
|
NM_000135.4(FANCA):c.200del (p.Pro67fs)
|
|
|
NM_000135.4(FANCA):c.2010T>G (p.Arg670=)
|
|
|
NM_000135.4(FANCA):c.2012A>T (p.Asp671Val)
|
|
|
NM_000135.4(FANCA):c.2014+10G>A
|
|
|
NM_000135.4(FANCA):c.2014+10G>T
|
rs1567620967
|
|
NM_000135.4(FANCA):c.2014+11A>T
|
|
|
NM_000135.4(FANCA):c.2014+16_2014+27del
|
|
|
NM_000135.4(FANCA):c.2014+18C>T
|
rs758580921
|
|
NM_000135.4(FANCA):c.2014+1G>A
|
|
|
NM_000135.4(FANCA):c.2014+1G>C
|
rs1598116164
|
|
NM_000135.4(FANCA):c.2014+1del
|
rs2143366415
|
|
NM_000135.4(FANCA):c.2014+20C>G
|
rs376320049
|
|
NM_000135.4(FANCA):c.2014+20C>T
|
|
|
NM_000135.4(FANCA):c.2014+5G>A
|
|
|
NM_000135.4(FANCA):c.2014+7A>G
|
|
|
NM_000135.4(FANCA):c.2015-16G>C
|
rs2039337410
|
|
NM_000135.4(FANCA):c.2015-1G>A
|
rs1555548632
|
|
NM_000135.4(FANCA):c.2015-1G>T
|
rs1555548632
|
|
NM_000135.4(FANCA):c.2015-20_2015-17del
|
|
|
NM_000135.4(FANCA):c.2015-2A>C
|
rs2143351760
|
|
NM_000135.4(FANCA):c.2015-4G>A
|
rs373954227
|
|
NM_000135.4(FANCA):c.2015-4G>C
|
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
NM_000135.4(FANCA):c.2015-8C>G
|
|
|
NM_000135.4(FANCA):c.2015-8del
|
rs1567619964
|
|
NM_000135.4(FANCA):c.2015-9C>T
|
rs2143351892
|
|
NM_000135.4(FANCA):c.2019A>G (p.Ile673Met)
|
|
|
NM_000135.4(FANCA):c.201A>C (p.Pro67=)
|
rs775320466
|
|
NM_000135.4(FANCA):c.201A>G (p.Pro67=)
|
rs775320466
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
NM_000135.4(FANCA):c.2023G>A (p.Ala675Thr)
|
rs752701423
|
|
NM_000135.4(FANCA):c.2023G>C (p.Ala675Pro)
|
rs752701423
|
|
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val)
|
rs986889143
|
|
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs)
|
rs2143351554
|
|
NM_000135.4(FANCA):c.2028G>A (p.Gln676=)
|
rs2039336156
|
|
NM_000135.4(FANCA):c.2028G>C (p.Gln676His)
|
rs2039336156
|
|
NM_000135.4(FANCA):c.202C>T (p.Leu68=)
|
rs767193138
|
|
NM_000135.4(FANCA):c.2034A>C (p.Ala678=)
|
rs2143351424
|
|
NM_000135.4(FANCA):c.2034A>G (p.Ala678=)
|
rs2143351424
|
|
NM_000135.4(FANCA):c.203T>G (p.Leu68Arg)
|
|
|
NM_000135.4(FANCA):c.2043T>C (p.Ser681=)
|
|
|
NM_000135.4(FANCA):c.204G>A (p.Leu68=)
|
rs759150554
|
|
NM_000135.4(FANCA):c.2050C>A (p.Leu684Met)
|
|
|
NM_000135.4(FANCA):c.2050C>G (p.Leu684Val)
|
rs1284083461
|
|
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
|
|
|
NM_000135.4(FANCA):c.2052G>T (p.Leu684=)
|
rs562025330
|
|
NM_000135.4(FANCA):c.2053A>C (p.Arg685=)
|
|
|
NM_000135.4(FANCA):c.2053_2054dup (p.Ala686fs)
|
rs2143351188
|
|
NM_000135.4(FANCA):c.2054G>C (p.Arg685Thr)
|
rs1183781456
|
|
NM_000135.4(FANCA):c.2059G>A (p.Val687Ile)
|
|
|
NM_000135.4(FANCA):c.2060T>C (p.Val687Ala)
|
|
|
NM_000135.4(FANCA):c.2062C>T (p.Leu688=)
|
|
|
NM_000135.4(FANCA):c.2064G>C (p.Leu688=)
|
rs2143351022
|
|
NM_000135.4(FANCA):c.2066del (p.Gly689fs)
|
rs2039334639
|
|
NM_000135.4(FANCA):c.2067C>G (p.Gly689=)
|
rs2143350973
|
|
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer)
|
rs2143711627
|
|
NM_000135.4(FANCA):c.2070C>T (p.His690=)
|
rs1422723344
|
|
NM_000135.4(FANCA):c.2072A>T (p.Asn691Ile)
|
|
|
NM_000135.4(FANCA):c.207T>A (p.Cys69Ter)
|
rs941660593
|
|
NM_000135.4(FANCA):c.2082C>T (p.Asp694=)
|
|
|
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs)
|
rs754104046
|
|
NM_000135.4(FANCA):c.2087G>A (p.Ser696Asn)
|
|
|
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)
|
|
|
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu)
|
rs376888740
|
|
NM_000135.4(FANCA):c.2090T>A (p.Val697Asp)
|
rs777863668
|
|
NM_000135.4(FANCA):c.2091T>G (p.Val697=)
|
|
|
NM_000135.4(FANCA):c.2093A>C (p.Glu698Ala)
|
rs2143350667
|
|
NM_000135.4(FANCA):c.2095A>T (p.Ile699Leu)
|
|
|
NM_000135.4(FANCA):c.2096T>C (p.Ile699Thr)
|
rs752652496
|
|
NM_000135.4(FANCA):c.2098T>A (p.Ser700Thr)
|
rs767631694
|
|
NM_000135.4(FANCA):c.2098T>C (p.Ser700Pro)
|
rs767631694
|
|
NM_000135.4(FANCA):c.2099C>T (p.Ser700Leu)
|
|
|
NM_000135.4(FANCA):c.2106T>A (p.Ile702=)
|
|
|
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)
|
rs1555548512
|
|
NM_000135.4(FANCA):c.2109G>A (p.Gln703=)
|
rs371458363
|
|
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val)
|
rs1555548507
|
|
NM_000135.4(FANCA):c.2118C>G (p.Ile706Met)
|
|
|
NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp)
|
|
|
NM_000135.4(FANCA):c.2121C>T (p.Asn707=)
|
rs544923702
|
|
NM_000135.4(FANCA):c.2121del (p.Asn707fs)
|
rs2039331837
|
|
NM_000135.4(FANCA):c.2126C>G (p.Pro709Arg)
|
|
|
NM_000135.4(FANCA):c.2127G>A (p.Pro709=)
|
rs771226546
|
|
NM_000135.4(FANCA):c.2127G>C (p.Pro709=)
|
rs771226546
|
|
NM_000135.4(FANCA):c.2129G>T (p.Arg710Ile)
|
rs2039331440
|
|
NM_000135.4(FANCA):c.2130A>G (p.Arg710=)
|
|
|
NM_000135.4(FANCA):c.2130A>T (p.Arg710Ser)
|
rs2143350061
|
|
NM_000135.4(FANCA):c.2131C>T (p.Leu711=)
|
|
|
NM_000135.4(FANCA):c.2132T>C (p.Leu711Pro)
|
rs2039331306
|
|
NM_000135.4(FANCA):c.2133G>A (p.Leu711=)
|
|
|
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys)
|
rs774565293
|
|
NM_000135.4(FANCA):c.213A>C (p.Lys71Asn)
|
|
|
NM_000135.4(FANCA):c.213A>T (p.Lys71Asn)
|
rs2041027459
|
|
NM_000135.4(FANCA):c.2140C>G (p.Arg714Gly)
|
rs200284845
|
|
NM_000135.4(FANCA):c.2143G>A (p.Glu715Lys)
|
|
|
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)
|
rs781436006
|
|
NM_000135.4(FANCA):c.2144A>T (p.Glu715Val)
|
rs2039330928
|
|
NM_000135.4(FANCA):c.2145A>G (p.Glu715=)
|
|
|
NM_000135.4(FANCA):c.2146C>T (p.His716Tyr)
|
|
|
NM_000135.4(FANCA):c.2150dup (p.Met717fs)
|
|
|
NM_000135.4(FANCA):c.2151+10G>A
|
rs2039329782
|
|
NM_000135.4(FANCA):c.2151+11G>T
|
|
|
NM_000135.4(FANCA):c.2151+12G>T
|
|
|
NM_000135.4(FANCA):c.2151+16C>T
|
|
|
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+4G>A
|
rs1598113342
|
|
NM_000135.4(FANCA):c.2151+4G>C
|
|
|
NM_000135.4(FANCA):c.2151+7G>A
|
rs2039330078
|
|
NM_000135.4(FANCA):c.2151+7_2151+8delinsTC
|
|
|
NM_000135.4(FANCA):c.2151+7_2151+8inv
|
|
|
NM_000135.4(FANCA):c.2151+8T>G
|
|
|
NM_000135.4(FANCA):c.2151+9del
|
rs1470258609
|
|
NM_000135.4(FANCA):c.2151G>A (p.Met717Ile)
|
rs1131660
|
|
NM_000135.4(FANCA):c.2152-12G>A
|
|
|
NM_000135.4(FANCA):c.2152-15A>G
|
|
|
NM_000135.4(FANCA):c.2152-16A>T
|
|
|
NM_000135.4(FANCA):c.2152-19G>A
|
|
|
NM_000135.4(FANCA):c.2152-1G>A
|
|
|
NM_000135.4(FANCA):c.2152-5T>C
|
|
|
NM_000135.4(FANCA):c.2152-6C>T
|
|
|
NM_000135.4(FANCA):c.2152-6_2152-5del
|
|
|
NM_000135.4(FANCA):c.2152-8C>G
|
rs1285658774
|
|
NM_000135.4(FANCA):c.2152-8C>T
|
rs1285658774
|
|
NM_000135.4(FANCA):c.2160C>T (p.Asp720=)
|
rs2143340191
|
|
NM_000135.4(FANCA):c.2162T>G (p.Leu721Arg)
|
|
|
NM_000135.4(FANCA):c.2164C>G (p.Leu722Val)
|
rs770314137
|
|
NM_000135.4(FANCA):c.2164C>T (p.Leu722=)
|
|
|
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)
|
rs1567618907
|
|
NM_000135.4(FANCA):c.2169G>A (p.Leu723=)
|
|
|
NM_000135.4(FANCA):c.216G>A (p.Leu72=)
|
|
|
NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro)
|
rs2039290343
|
|
NM_000135.4(FANCA):c.2172G>A (p.Thr724=)
|
rs768851944
|
|
NM_000135.4(FANCA):c.2172G>T (p.Thr724=)
|
rs768851944
|
|
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)
|
rs1555547955
|
|
NM_000135.4(FANCA):c.2174C>G (p.Ser725Cys)
|
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu)
|
rs1163885123
|
|
NM_000135.4(FANCA):c.2178C>T (p.Phe726=)
|
|
|
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
|
|
|
NM_000135.4(FANCA):c.2187C>T (p.Asn729=)
|
rs771833978
|
|
NM_000135.4(FANCA):c.2189T>C (p.Leu730Pro)
|
rs2039289431
|
|
NM_000135.4(FANCA):c.218C>T (p.Ser73Phe)
|
|
|
NM_000135.4(FANCA):c.2190G>C (p.Leu730=)
|
|
|
NM_000135.4(FANCA):c.2196T>A (p.Ala732=)
|
rs2143339914
|
|
NM_000135.4(FANCA):c.2197G>A (p.Ala733Thr)
|
|
|
NM_000135.4(FANCA):c.2200_2203dup (p.Ser735fs)
|
rs1394491958
|
|
NM_000135.4(FANCA):c.2202C>T (p.Ser734=)
|
|
|
NM_000135.4(FANCA):c.2204G>A (p.Ser735Asn)
|
|
|
NM_000135.4(FANCA):c.2204G>T (p.Ser735Ile)
|
|
|
NM_000135.4(FANCA):c.2205T>C (p.Ser735=)
|
rs2143339774
|
|
NM_000135.4(FANCA):c.2208C>T (p.Val736=)
|
rs755638734
|
|
NM_000135.4(FANCA):c.2211T>C (p.Ala737=)
|
|
|
NM_000135.4(FANCA):c.2212C>A (p.Pro738Thr)
|
rs751015814
|
|
NM_000135.4(FANCA):c.2212C>G (p.Pro738Ala)
|
rs751015814
|
|
NM_000135.4(FANCA):c.2213C>A (p.Pro738His)
|
rs762333391
|
|
NM_000135.4(FANCA):c.2214C>G (p.Pro738=)
|
|
|
NM_000135.4(FANCA):c.2216C>G (p.Pro739Arg)
|
rs45441106
|
|
NM_000135.4(FANCA):c.2217G>A (p.Pro739=)
|
|
|
NM_000135.4(FANCA):c.2217G>C (p.Pro739=)
|
rs764163027
|
|
NM_000135.4(FANCA):c.221_222del (p.Leu74fs)
|
rs2041026878
|
|
NM_000135.4(FANCA):c.2222+11G>A
|
|
|
NM_000135.4(FANCA):c.2222+11G>C
|
|
|
NM_000135.4(FANCA):c.2222+11G>T
|
|
|
NM_000135.4(FANCA):c.2222+13G>C
|
rs2143339468
|
|
NM_000135.4(FANCA):c.2222+14C>A
|
rs368973617
|
|
NM_000135.4(FANCA):c.2222+16G>C
|
|
|
NM_000135.4(FANCA):c.2222+16G>T
|
|
|
NM_000135.4(FANCA):c.2222+19C>A
|
|
|
NM_000135.4(FANCA):c.2222+1G>C
|
rs775388912
|
|
NM_000135.4(FANCA):c.2222+1G>T
|
rs775388912
|
|
NM_000135.4(FANCA):c.2222+4A>G
|
|
|
NM_000135.4(FANCA):c.2222+5A>G
|
|
|
NM_000135.4(FANCA):c.2222+5A>T
|
|
|
NM_000135.4(FANCA):c.2222+7dup
|
|
|
NM_000135.4(FANCA):c.2222+9G>A
|
rs774316742
|
|
NM_000135.4(FANCA):c.2223-114C>T
|
rs886952
|
|
NM_000135.4(FANCA):c.2223-13G>T
|
|
|
NM_000135.4(FANCA):c.2223-17C>T
|
|
|
NM_000135.4(FANCA):c.2223-3C>G
|
rs2039278966
|
|
NM_000135.4(FANCA):c.2223-3C>T
|
rs2039278966
|
|
NM_000135.4(FANCA):c.2223-4G>T
|
|
|
NM_000135.4(FANCA):c.2223-6C>G
|
rs759682612
|
|
NM_000135.4(FANCA):c.2223-6_2223-5del
|
|
|
NM_000135.4(FANCA):c.2223-7T>C
|
|
|
NM_000135.4(FANCA):c.2223-8C>G
|
rs1598110961
|
|
NM_000135.4(FANCA):c.2223-8C>T
|
rs1598110961
|
|
NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys)
|
rs1239354393
|
|
NM_000135.4(FANCA):c.2227G>A (p.Gly743Ser)
|
|
|
NM_000135.4(FANCA):c.2232C>T (p.Pro744=)
|
|
|
NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter)
|
rs1338018512
|
|
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr)
|
rs931143821
|
|
NM_000135.4(FANCA):c.2242del (p.Leu748fs)
|
rs2143336491
|
|
NM_000135.4(FANCA):c.2244C>G (p.Leu748=)
|
|
|
NM_000135.4(FANCA):c.2244del (p.Phe749fs)
|
rs2143336461
|
|
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
|
|
|
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)
|
rs747723074
|
|
NM_000135.4(FANCA):c.2248G>C (p.Val750Leu)
|
rs747723074
|
|
NM_000135.4(FANCA):c.2250G>C (p.Val750=)
|
|
|
NM_000135.4(FANCA):c.2253G>A (p.Arg751=)
|
rs1345505146
|
|
NM_000135.4(FANCA):c.2253dup (p.Thr752fs)
|
rs2143336354
|
|
NM_000135.4(FANCA):c.2257A>G (p.Met753Val)
|
rs757797015
|
|
NM_000135.4(FANCA):c.2262_2263del (p.Cys754fs)
|
|
|
NM_000135.4(FANCA):c.2265dup (p.Arg756fs)
|
rs2143336220
|
|
NM_000135.4(FANCA):c.2267G>A (p.Arg756His)
|
|
|
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)
|
rs137913973
|
|
NM_000135.4(FANCA):c.2268T>G (p.Arg756=)
|
rs2143336151
|
|
NM_000135.4(FANCA):c.226A>G (p.Lys76Glu)
|
rs2143711335
|
|
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
|
|
|
NM_000135.4(FANCA):c.2275C>T (p.Pro759Ser)
|
|
|
NM_000135.4(FANCA):c.2280A>G (p.Ala760=)
|
rs1598110765
|
|
NM_000135.4(FANCA):c.2282T>A (p.Val761Glu)
|
rs2039276663
|
|
NM_000135.4(FANCA):c.2283G>A (p.Val761=)
|
|
|
NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile)
|
|
|
NM_000135.4(FANCA):c.2284C>T (p.Leu762Phe)
|
|
|
NM_000135.4(FANCA):c.2285T>C (p.Leu762Pro)
|
|
|
NM_000135.4(FANCA):c.2286C>T (p.Leu762=)
|
rs1419118181
|
|
NM_000135.4(FANCA):c.2288C>T (p.Thr763Ile)
|
|
|
NM_000135.4(FANCA):c.2289C>A (p.Thr763=)
|
rs2143335900
|
|
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)
|
rs751572448
|
|
NM_000135.4(FANCA):c.2293del (p.Leu765fs)
|
|
|
NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter)
|
rs947786901
|
|
NM_000135.4(FANCA):c.2301G>A (p.Gln767=)
|
|
|
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)
|
rs917707717
|
|
NM_000135.4(FANCA):c.2307C>A (p.Leu769=)
|
rs1226177820
|
|
NM_000135.4(FANCA):c.2307C>T (p.Leu769=)
|
|
|
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
|
rs761725308
|
|
NM_000135.4(FANCA):c.2316+13T>C
|
rs2143335460
|
|
NM_000135.4(FANCA):c.2316+16A>G
|
|
|
NM_000135.4(FANCA):c.2316+16A>T
|
rs779657463
|
|
NM_000135.4(FANCA):c.2316+17T>A
|
|
|
NM_000135.4(FANCA):c.2316+17T>C
|
|
|
NM_000135.4(FANCA):c.2316+18G>A
|
|
|
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+6G>T
|
rs1399631313
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
NM_000135.4(FANCA):c.2317-10C>T
|
|
|
NM_000135.4(FANCA):c.2317-12T>A
|
|
|
NM_000135.4(FANCA):c.2317-13A>G
|
|
|
NM_000135.4(FANCA):c.2317-17C>A
|
|
|
NM_000135.4(FANCA):c.2317-19A>T
|
|
|
NM_000135.4(FANCA):c.2317-1G>A
|
rs1230207719
|
|
NM_000135.4(FANCA):c.2317-1G>T
|
rs1230207719
|
|
NM_000135.4(FANCA):c.2317-20C>T
|
|
|
NM_000135.4(FANCA):c.2317-2A>G
|
rs1567618264
|
|
NM_000135.4(FANCA):c.2317-4G>A
|
rs775272801
|
|
NM_000135.4(FANCA):c.2317-4G>C
|
|
|
NM_000135.4(FANCA):c.2318G>A (p.Gly773Asp)
|
rs2143333930
|
|
NM_000135.4(FANCA):c.231G>A (p.Val77=)
|
|
|
NM_000135.4(FANCA):c.2320C>T (p.Pro774Ser)
|
|
|
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr)
|
rs2039267533
|
|
NM_000135.4(FANCA):c.2325C>G (p.Ser775Arg)
|
rs545765795
|
|
NM_000135.4(FANCA):c.2325C>T (p.Ser775=)
|
rs545765795
|
|
NM_000135.4(FANCA):c.2327dup (p.Ser777fs)
|
rs2039267300
|
|
NM_000135.4(FANCA):c.2331T>C (p.Ser777=)
|
rs2143333727
|
|
NM_000135.4(FANCA):c.2332G>A (p.Ala778Thr)
|
rs1242381795
|
|
NM_000135.4(FANCA):c.2334C>T (p.Ala778=)
|
rs1308389715
|
|
NM_000135.4(FANCA):c.2337A>G (p.Pro779=)
|
|
|
NM_000135.4(FANCA):c.233_236del (p.Ile78fs)
|
rs2041026343
|
|
NM_000135.4(FANCA):c.2341G>A (p.Val781Met)
|
rs1246628258
|
|
NM_000135.4(FANCA):c.2341G>T (p.Val781Leu)
|
rs1246628258
|
|
NM_000135.4(FANCA):c.2343G>T (p.Val781=)
|
|
|
NM_000135.4(FANCA):c.2345T>G (p.Leu782Arg)
|
rs747315724
|
|
NM_000135.4(FANCA):c.2346G>T (p.Leu782=)
|
|
|
NM_000135.4(FANCA):c.2349G>C (p.Gly783=)
|
|
|
NM_000135.4(FANCA):c.234T>C (p.Ile78=)
|
rs2143711235
|
|
NM_000135.4(FANCA):c.2351dup (p.Leu784fs)
|
rs2039266434
|
|
NM_000135.4(FANCA):c.2356G>T (p.Ala786Ser)
|
|
|
NM_000135.4(FANCA):c.2361G>C (p.Leu787=)
|
rs2143333278
|
|
NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro)
|
rs1036897594
|
|
NM_000135.4(FANCA):c.2364C>A (p.Ala788=)
|
rs149754397
|
|
NM_000135.4(FANCA):c.2365G>A (p.Val789Met)
|
rs771698195
|
|
NM_000135.4(FANCA):c.2368C>G (p.His790Asp)
|
rs2039266002
|
|
NM_000135.4(FANCA):c.2368C>T (p.His790Tyr)
|
|
|
NM_000135.4(FANCA):c.2368del (p.His790fs)
|
rs2143333169
|
|
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)
|
rs1336033143
|
|
NM_000135.4(FANCA):c.2370C>T (p.His790=)
|
rs753818673
|
|
NM_000135.4(FANCA):c.2371C>G (p.Leu791Val)
|
|
|
NM_000135.4(FANCA):c.2382C>T (p.Ser794=)
|
rs1223394099
|
|
NM_000135.4(FANCA):c.2383A>C (p.Arg795=)
|
rs767455904
|
|
NM_000135.4(FANCA):c.238del (p.Cys80fs)
|
rs864622187
|
|
NM_000135.4(FANCA):c.2391G>T (p.Ala797=)
|
|
|
NM_000135.4(FANCA):c.2395C>G (p.Pro799Ala)
|
rs762439008
|
|
NM_000135.4(FANCA):c.2397A>G (p.Pro799=)
|
rs2143332878
|
|
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.2399A>T (p.Glu800Val)
|
rs2039264657
|
|
NM_000135.4(FANCA):c.239G>A (p.Cys80Tyr)
|
rs1043175440
|
|
NM_000135.4(FANCA):c.2402T>A (p.Val801Glu)
|
rs772721300
|
|
NM_000135.4(FANCA):c.2403G>C (p.Val801=)
|
rs969366978
|
|
NM_000135.4(FANCA):c.2403G>T (p.Val801=)
|
|
|
NM_000135.4(FANCA):c.2406T>C (p.Asp802=)
|
rs2143332765
|
|
NM_000135.4(FANCA):c.2409G>C (p.Val803=)
|
rs1598110129
|
|
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)
|
rs1363946483
|
|
NM_000135.4(FANCA):c.2414C>T (p.Pro805Leu)
|
rs1303230442
|
|
NM_000135.4(FANCA):c.2416C>T (p.Pro806Ser)
|
|
|
NM_000135.4(FANCA):c.2422C>G (p.Pro808Ala)
|
rs772367440
|
|
NM_000135.4(FANCA):c.2424T>A (p.Pro808=)
|
|
|
NM_000135.4(FANCA):c.2424T>C (p.Pro808=)
|
|
|
NM_000135.4(FANCA):c.2426G>T (p.Gly809Val)
|
|
|
NM_000135.4(FANCA):c.2426_2427inv (p.Gly809Asp)
|
|
|
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
|
|
|
NM_000135.4(FANCA):c.2428G>T (p.Ala810Ser)
|
rs1263882781
|
|
NM_000135.4(FANCA):c.2429C>G (p.Ala810Gly)
|
rs1486995764
|
|
NM_000135.4(FANCA):c.2430T>A (p.Ala810=)
|
|
|
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)
|
rs201152989
|
|
NM_000135.4(FANCA):c.2432G>C (p.Gly811Ala)
|
|
|
NM_000135.4(FANCA):c.2439T>G (p.Pro813=)
|
rs2143332287
|
|
NM_000135.4(FANCA):c.243C>T (p.Asp81=)
|
|
|
NM_000135.4(FANCA):c.2442C>T (p.Val814=)
|
|
|
NM_000135.4(FANCA):c.2443C>T (p.Pro815Ser)
|
|
|
NM_000135.4(FANCA):c.2444C>G (p.Pro815Arg)
|
rs778009295
|
|
NM_000135.4(FANCA):c.2444C>T (p.Pro815Leu)
|
|
|
NM_000135.4(FANCA):c.2445T>C (p.Pro815=)
|
rs1489533103
|
|
NM_000135.4(FANCA):c.2447C>A (p.Ala816Glu)
|
|
|
NM_000135.4(FANCA):c.2449C>G (p.Leu817Val)
|
|
|
NM_000135.4(FANCA):c.2450T>C (p.Leu817Pro)
|
rs1307805145
|
|
NM_000135.4(FANCA):c.2453_2454del (p.Leu817_Phe818insTer)
|
|
|
NM_000135.4(FANCA):c.2454T>C (p.Phe818=)
|
rs2143332088
|
|
NM_000135.4(FANCA):c.2455G>C (p.Asp819His)
|
|
|
NM_000135.4(FANCA):c.2457C>T (p.Asp819=)
|
rs1216645940
|
|
NM_000135.4(FANCA):c.245G>A (p.Ser82Asn)
|
|
|
NM_000135.4(FANCA):c.245G>C (p.Ser82Thr)
|
rs1459045387
|
|
NM_000135.4(FANCA):c.2463C>G (p.Leu821=)
|
rs781019889
|
|
NM_000135.4(FANCA):c.2463C>T (p.Leu821=)
|
|
|
NM_000135.4(FANCA):c.2464C>T (p.Leu822=)
|
|
|
NM_000135.4(FANCA):c.2466G>A (p.Leu822=)
|
|
|
NM_000135.4(FANCA):c.2466G>T (p.Leu822=)
|
rs2143331866
|
|
NM_000135.4(FANCA):c.2469C>A (p.Thr823=)
|
|
|
NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter)
|
rs2039261844
|
|
NM_000135.4(FANCA):c.2472T>C (p.Cys824=)
|
rs2039261844
|
|
NM_000135.4(FANCA):c.2477C>T (p.Thr826Met)
|
rs765888048
|
|
NM_000135.4(FANCA):c.2482dup (p.Asp828fs)
|
rs2143331597
|
|
NM_000135.4(FANCA):c.2484T>C (p.Asp828=)
|
|
|
NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter)
|
rs772477788
|
|
NM_000135.4(FANCA):c.2490G>T (p.Leu830Phe)
|
rs2039261142
|
|
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)
|
rs1310756192
|
|
NM_000135.4(FANCA):c.2496C>T (p.Phe832=)
|
rs2039260982
|
|
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)
|
rs2039260856
|
|
NM_000135.4(FANCA):c.2502G>T (p.Leu834=)
|
rs770993950
|
|
NM_000135.4(FANCA):c.2504+10T>C
|
rs770043372
|
|
NM_000135.4(FANCA):c.2504+11C>T
|
|
|
NM_000135.4(FANCA):c.2504+11_2504+12insCA
|
|
|
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+16A>C
|
|
|
NM_000135.4(FANCA):c.2504+16A>G
|
|
|
NM_000135.4(FANCA):c.2504+17C>T
|
|
|
NM_000135.4(FANCA):c.2504+18del
|
|
|
NM_000135.4(FANCA):c.2504+1G>A
|
rs2039260545
|
|
NM_000135.4(FANCA):c.2504+1G>C
|
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.2504+7T>C
|
rs1212871121
|
|
NM_000135.4(FANCA):c.2504+8C>A
|
rs529177917
|
|
NM_000135.4(FANCA):c.2505-10C>G
|
rs1271668667
|
|
NM_000135.4(FANCA):c.2505-10_2505-9del
|
rs766900188
|
|
NM_000135.4(FANCA):c.2505-12T>G
|
|
|
NM_000135.4(FANCA):c.2505-15A>T
|
|
|
NM_000135.4(FANCA):c.2505-15_2505-13del
|
rs1420343115
|
|
NM_000135.4(FANCA):c.2505-17A>G
|
|
|
NM_000135.4(FANCA):c.2505-1G>C
|
rs1438990537
|
|
NM_000135.4(FANCA):c.2505-2A>C
|
|
|
NM_000135.4(FANCA):c.2505-30_2505-10del
|
rs1598106124
|
|
NM_000135.4(FANCA):c.2505-4T>C
|
|
|
NM_000135.4(FANCA):c.2505-4del
|
|
|
NM_000135.4(FANCA):c.2505-5T>C
|
rs768436599
|
|
NM_000135.4(FANCA):c.2505-8G>A
|
rs2143308956
|
|
NM_000135.4(FANCA):c.2505-8G>C
|
rs2143308956
|
|
NM_000135.4(FANCA):c.2505-8G>T
|
rs2143308956
|
|
NM_000135.4(FANCA):c.2505A>G (p.Lys835=)
|
rs1555546563
|
|
NM_000135.4(FANCA):c.2508T>C (p.Phe836=)
|
|
|
NM_000135.4(FANCA):c.2509_2604del (p.Cys837_Phe868del)
|
rs2143307773
|
|
NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg)
|
rs1216922486
|
|
NM_000135.4(FANCA):c.2514A>G (p.Thr838=)
|
|
|
NM_000135.4(FANCA):c.2516C>G (p.Ala839Gly)
|
|
|
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly)
|
rs587778313
|
|
NM_000135.4(FANCA):c.2521A>G (p.Ile841Val)
|
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
NM_000135.4(FANCA):c.2525C>G (p.Ser842Cys)
|
|
|
NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp)
|
rs374030577
|
|
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys)
|
rs1567616244
|
|
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.2529C>T (p.Tyr843=)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.2531C>G (p.Ser844Cys)
|
|
|
NM_000135.4(FANCA):c.2532T>C (p.Ser844=)
|
rs778591541
|
|
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs)
|
rs763378933
|
|
NM_000135.4(FANCA):c.2535C>G (p.Leu845=)
|
|
|
NM_000135.4(FANCA):c.2535C>T (p.Leu845=)
|
rs1362752790
|
|
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)
|
rs763378933
|
|
NM_000135.4(FANCA):c.253G>A (p.Ala85Thr)
|
rs2143711037
|
|
NM_000135.4(FANCA):c.2540A>C (p.Lys847Thr)
|
|
|
NM_000135.4(FANCA):c.2546del (p.Ser849fs)
|
rs1060501876
|
|
NM_000135.4(FANCA):c.2549C>A (p.Ser850Tyr)
|
|
|
NM_000135.4(FANCA):c.254C>G (p.Ala85Gly)
|
|
|
NM_000135.4(FANCA):c.2550C>T (p.Ser850=)
|
rs755395838
|
|
NM_000135.4(FANCA):c.2551C>T (p.Gln851Ter)
|
rs1406289451
|
|
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)
|
rs761469030
|
|
NM_000135.4(FANCA):c.2558G>A (p.Arg853Gln)
|
rs753393669
|
|
NM_000135.4(FANCA):c.2559_2564del (p.Asp854_Thr855del)
|
rs2143308232
|
|
NM_000135.4(FANCA):c.255C>A (p.Ala85=)
|
rs780353222
|
|
NM_000135.4(FANCA):c.255C>G (p.Ala85=)
|
|
|
NM_000135.4(FANCA):c.255C>T (p.Ala85=)
|
rs780353222
|
|
NM_000135.4(FANCA):c.2562T>C (p.Asp854=)
|
|
|
NM_000135.4(FANCA):c.2563dup (p.Thr855fs)
|
|
|
NM_000135.4(FANCA):c.2564del (p.Thr855fs)
|
rs2143308216
|
|
NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)
|
|
|
NM_000135.4(FANCA):c.2571C>T (p.Cys857=)
|
|
|
NM_000135.4(FANCA):c.257A>G (p.Tyr86Cys)
|
|
|
NM_000135.4(FANCA):c.2580A>G (p.Leu860=)
|
rs1852141936
|
|
NM_000135.4(FANCA):c.2584C>G (p.Pro862Ala)
|
|
|
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser)
|
rs2039157272
|
|
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs)
|
rs1567616135
|
|
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.259G>C (p.Ala87Pro)
|
|
|
NM_000135.4(FANCA):c.2600del (p.Lys867fs)
|
rs2039156731
|
|
NM_000135.4(FANCA):c.2601+12C>G
|
|
|
NM_000135.4(FANCA):c.2601+12_2601+13del
|
|
|
NM_000135.4(FANCA):c.2601+15T>A
|
|
|
NM_000135.4(FANCA):c.2601+15_2601+16del
|
|
|
NM_000135.4(FANCA):c.2601+18C>G
|
|
|
NM_000135.4(FANCA):c.2601+18C>T
|
rs748995903
|
|
NM_000135.4(FANCA):c.2601+20A>G
|
|
|
NM_000135.4(FANCA):c.2601+5G>T
|
|
|
NM_000135.4(FANCA):c.2601+8C>A
|
|
|
NM_000135.4(FANCA):c.2601+8C>T
|
rs775561931
|
|
NM_000135.4(FANCA):c.2601+9A>T
|
rs771837383
|
|
NM_000135.4(FANCA):c.2601G>A (p.Lys867=)
|
rs746889340
|
|
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn)
|
rs746889340
|
|
NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn)
|
rs746889340
|
|
NM_000135.4(FANCA):c.2602-14A>C
|
rs886052483
|
|
NM_000135.4(FANCA):c.2602-17G>A
|
|
|
NM_000135.4(FANCA):c.2602-17G>C
|
|
|
NM_000135.4(FANCA):c.2602-18G>C
|
rs774316884
|
|
NM_000135.4(FANCA):c.2602-19G>A
|
rs17233225
|
|
NM_000135.4(FANCA):c.2602-19G>C
|
rs17233225
|
|
NM_000135.4(FANCA):c.261T>C (p.Ala87=)
|
|
|
NM_000135.4(FANCA):c.262A>T (p.Asn88Tyr)
|
rs913466405
|
|
NM_000135.4(FANCA):c.269C>G (p.Ser90Cys)
|
|
|
NM_000135.4(FANCA):c.2700T>C (p.Ser900=)
|
rs755783870
|
|
NM_000135.4(FANCA):c.2703A>G (p.Ala901=)
|
rs2143288685
|
|
NM_000135.4(FANCA):c.2707dup (p.Trp903fs)
|
rs1225564406
|
|
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter)
|
rs1354272260
|
|
NM_000135.4(FANCA):c.2709G>A (p.Trp903Ter)
|
|
|
NM_000135.4(FANCA):c.270T>C (p.Ser90=)
|
rs1322323561
|
|
NM_000135.4(FANCA):c.2710C>T (p.Gln904Ter)
|
rs2039076227
|
|
NM_000135.4(FANCA):c.2711A>G (p.Gln904Arg)
|
rs776576487
|
|
NM_000135.4(FANCA):c.2712G>C (p.Gln904His)
|
|
|
NM_000135.4(FANCA):c.2717del (p.Ala906fs)
|
rs2143288542
|
|
NM_000135.4(FANCA):c.2720C>T (p.Ala907Val)
|
|
|
NM_000135.4(FANCA):c.2721C>G (p.Ala907=)
|
rs775013707
|
|
NM_000135.4(FANCA):c.2721C>T (p.Ala907=)
|
|
|
NM_000135.4(FANCA):c.2723T>C (p.Leu908Pro)
|
rs2039075542
|
|
NM_000135.4(FANCA):c.2727T>C (p.Ser909=)
|
|
|
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile)
|
rs1216426444
|
|
NM_000135.4(FANCA):c.2728C>G (p.Leu910Val)
|
rs1216426444
|
|
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)
|
rs1216426444
|
|
NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro)
|
|
|
NM_000135.4(FANCA):c.2730C>G (p.Leu910=)
|
|
|
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.2735C>A (p.Thr912Lys)
|
rs376302719
|
|
NM_000135.4(FANCA):c.2736A>C (p.Thr912=)
|
|
|
NM_000135.4(FANCA):c.2736dup (p.His913fs)
|
rs2039074823
|
|
NM_000135.4(FANCA):c.2739_2740del (p.His913fs)
|
rs1186669727
|
|
NM_000135.4(FANCA):c.2741G>T (p.Arg914Ile)
|
|
|
NM_000135.4(FANCA):c.2745C>A (p.Thr915=)
|
rs781543214
|
|
NM_000135.4(FANCA):c.2745C>T (p.Thr915=)
|
rs781543214
|
|
NM_000135.4(FANCA):c.2749C>A (p.Arg917=)
|
|
|
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)
|
rs1060501880
|
|
NM_000135.4(FANCA):c.2752G>C (p.Glu918Gln)
|
|
|
NM_000135.4(FANCA):c.2755G>A (p.Val919Met)
|
rs150330232
|
|
NM_000135.4(FANCA):c.2756T>C (p.Val919Ala)
|
rs202131468
|
|
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.275C>T (p.Ser92Leu)
|
|
|
NM_000135.4(FANCA):c.2760G>C (p.Leu920Phe)
|
|
|
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.2765A>C (p.Glu922Ala)
|
rs899634878
|
|
NM_000135.4(FANCA):c.2768A>T (p.Glu923Val)
|
|
|
NM_000135.4(FANCA):c.2778+11G>A
|
rs1211560919
|
|
NM_000135.4(FANCA):c.2778+11G>T
|
rs1211560919
|
|
NM_000135.4(FANCA):c.2778+13T>G
|
|
|
NM_000135.4(FANCA):c.2778+19_2778+101del
|
rs1567614267
|
|
NM_000135.4(FANCA):c.2778+1G>C
|
rs140180549
|
|
NM_000135.4(FANCA):c.2778+1G>T
|
rs140180549
|
|
NM_000135.4(FANCA):c.2778+20_2778+22del
|
rs778787539
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
NM_000135.4(FANCA):c.2778+3A>G
|
rs757261567
|
|
NM_000135.4(FANCA):c.2778+51_2778+133del
|
rs2143286378
|
|
NM_000135.4(FANCA):c.2778+7_2778+36del
|
rs1253945933
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
NM_000135.4(FANCA):c.2778+9C>T
|
rs2143287939
|
|
NM_000135.4(FANCA):c.2778C>T (p.His926=)
|
|
|
NM_000135.4(FANCA):c.2779-10T>C
|
rs1434480162
|
|
NM_000135.4(FANCA):c.2779-11C>T
|
rs185392597
|
|
NM_000135.4(FANCA):c.2779-12T>C
|
|
|
NM_000135.4(FANCA):c.2779-13CT[2]
|
rs1567612434
|
|
NM_000135.4(FANCA):c.2779-14G>C
|
|
|
NM_000135.4(FANCA):c.2779-14G>T
|
|
|
NM_000135.4(FANCA):c.2779-16T>A
|
|
|
NM_000135.4(FANCA):c.2779-16_2779-15delinsCG
|
|
|
NM_000135.4(FANCA):c.2779-18G>A
|
|
|
NM_000135.4(FANCA):c.2779-18G>C
|
|
|
NM_000135.4(FANCA):c.2779-19T>C
|
|
|
NM_000135.4(FANCA):c.2779-1G>T
|
rs2143261385
|
|
NM_000135.4(FANCA):c.2779-20T>C
|
rs758046281
|
|
NM_000135.4(FANCA):c.2779-20T>G
|
|
|
NM_000135.4(FANCA):c.2779-3C>T
|
|
|
NM_000135.4(FANCA):c.2779-5C>G
|
rs753286882
|
|
NM_000135.4(FANCA):c.2779-8T>C
|
|
|
NM_000135.4(FANCA):c.2779-9C>T
|
rs764825402
|
|
NM_000135.4(FANCA):c.2783C>A (p.Thr928Asn)
|
rs2143261377
|
|
NM_000135.4(FANCA):c.2784T>G (p.Thr928=)
|
|
|
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His)
|
rs1567612427
|
|
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser)
|
rs2038969615
|
|
NM_000135.4(FANCA):c.2791G>C (p.Asp931His)
|
|
|
NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg)
|
rs2038969261
|
|
NM_000135.4(FANCA):c.2797T>C (p.Leu933=)
|
rs961319091
|
|
NM_000135.4(FANCA):c.279del (p.Phe93fs)
|
|
|
NM_000135.4(FANCA):c.2803C>T (p.Leu935=)
|
rs1598096992
|
|
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.2809C>G (p.Leu937Val)
|
|
|
NM_000135.4(FANCA):c.2809C>T (p.Leu937=)
|
rs773381553
|
|
NM_000135.4(FANCA):c.280A>G (p.Ile94Val)
|
|
|
NM_000135.4(FANCA):c.2812G>C (p.Glu938Gln)
|
rs376106733
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
NM_000135.4(FANCA):c.2815A>G (p.Ile939Val)
|
rs1598096962
|
|
NM_000135.4(FANCA):c.2820A>C (p.Gln940His)
|
|
|
NM_000135.4(FANCA):c.2821C>A (p.Pro941Thr)
|
rs2038968162
|
|
NM_000135.4(FANCA):c.2822C>A (p.Pro941His)
|
|
|
NM_000135.4(FANCA):c.2826A>C (p.Glu942Asp)
|
rs1217883878
|
|
NM_000135.4(FANCA):c.2827_2845dup (p.Thr949delinsSerTer)
|
rs2038967521
|
|
NM_000135.4(FANCA):c.2828C>T (p.Ala943Val)
|
|
|
NM_000135.4(FANCA):c.283+10A>C
|
|
|
NM_000135.4(FANCA):c.283+12C>A
|
|
|
NM_000135.4(FANCA):c.283+12C>G
|
rs2143710577
|
|
NM_000135.4(FANCA):c.283+15C>A
|
|
|
NM_000135.4(FANCA):c.283+15C>T
|
|
|
NM_000135.4(FANCA):c.283+16A>G
|
|
|
NM_000135.4(FANCA):c.283+1G>A
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1_283+11del
|
rs2143710613
|
|
NM_000135.4(FANCA):c.283+1del
|
rs2041024132
|
|
NM_000135.4(FANCA):c.283+2T>C
|
|
|
NM_000135.4(FANCA):c.283+2T>G
|
|
|
NM_000135.4(FANCA):c.283+3A>C
|
rs786204204
|
|
NM_000135.4(FANCA):c.283+5G>A
|
rs1598199184
|
|
NM_000135.4(FANCA):c.283+8A>G
|
|
|
NM_000135.4(FANCA):c.283+9T>A
|
rs779593295
|
|
NM_000135.4(FANCA):c.283+9T>G
|
rs779593295
|
|
NM_000135.4(FANCA):c.2830G>A (p.Asp944Asn)
|
|
|
NM_000135.4(FANCA):c.2830G>T (p.Asp944Tyr)
|
|
|
NM_000135.4(FANCA):c.2830_2831insGAAA (p.Asp944fs)
|
|
|
NM_000135.4(FANCA):c.2832dup (p.Ala945fs)
|
rs2143260759
|
|
NM_000135.4(FANCA):c.2834C>T (p.Ala945Val)
|
rs1221107443
|
|
NM_000135.4(FANCA):c.2836C>G (p.Leu946Val)
|
|
|
NM_000135.4(FANCA):c.2836C>T (p.Leu946Phe)
|
|
|
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)
|
rs756367276
|
|
NM_000135.4(FANCA):c.284-10T>C
|
rs1318685482
|
|
NM_000135.4(FANCA):c.284-11T>C
|
|
|
NM_000135.4(FANCA):c.284-1328_705del
|
|
|
NM_000135.4(FANCA):c.284-13T>C
|
|
|
NM_000135.4(FANCA):c.284-14G>T
|
rs757531036
|
|
NM_000135.4(FANCA):c.284-15T>C
|
|
|
NM_000135.4(FANCA):c.284-19G>A
|
|
|
NM_000135.4(FANCA):c.284-19G>C
|
|
|
NM_000135.4(FANCA):c.284-1G>C
|
rs781216924
|
|
NM_000135.4(FANCA):c.284-20G>T
|
|
|
NM_000135.4(FANCA):c.284-2A>C
|
|
|
NM_000135.4(FANCA):c.284-7G>A
|
rs2143681344
|
|
NM_000135.4(FANCA):c.284-8T>C
|
rs2143681363
|
|
NM_000135.4(FANCA):c.284-940_339del
|
|
|
NM_000135.4(FANCA):c.284-9G>C
|
rs367672895
|
|
NM_000135.4(FANCA):c.2841A>T (p.Ser947=)
|
rs1555544202
|
|
NM_000135.4(FANCA):c.2843A>C (p.Asp948Ala)
|
|
|
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val)
|
rs193172749
|
|
NM_000135.4(FANCA):c.2844T>C (p.Asp948=)
|
rs2143260585
|
|
NM_000135.4(FANCA):c.2846C>T (p.Thr949Ile)
|
rs2038967398
|
|
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+10G>C
|
rs2143260317
|
|
NM_000135.4(FANCA):c.2852+12A>T
|
rs2038966561
|
|
NM_000135.4(FANCA):c.2852+17G>C
|
|
|
NM_000135.4(FANCA):c.2852+18C>G
|
|
|
NM_000135.4(FANCA):c.2852+1del
|
|
|
NM_000135.4(FANCA):c.2852+1dup
|
|
|
NM_000135.4(FANCA):c.2852+2T>G
|
rs766875860
|
|
NM_000135.4(FANCA):c.2852+3A>G
|
rs2038966938
|
|
NM_000135.4(FANCA):c.2852+7G>A
|
|
|
NM_000135.4(FANCA):c.2852+7_2852+8del
|
|
|
NM_000135.4(FANCA):c.2853-10G>C
|
rs1432760258
|
|
NM_000135.4(FANCA):c.2853-11T>C
|
|
|
NM_000135.4(FANCA):c.2853-14G>A
|
|
|
NM_000135.4(FANCA):c.2853-15T>C
|
rs1252724124
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.2853-16G>A
|
|
|
NM_000135.4(FANCA):c.2853-4C>A
|
rs1289126600
|
|
NM_000135.4(FANCA):c.2853-4C>T
|
rs1289126600
|
|
NM_000135.4(FANCA):c.2853-7G>A
|
|
|
NM_000135.4(FANCA):c.2853-8T>C
|
rs2038845082
|
|
NM_000135.4(FANCA):c.2853-9C>G
|
|
|
NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter)
|
rs2038844790
|
|
NM_000135.4(FANCA):c.2855A>C (p.Gln952Pro)
|
rs2143225876
|
|
NM_000135.4(FANCA):c.2858A>C (p.Asp953Ala)
|
|
|
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)
|
rs149112292
|
|
NM_000135.4(FANCA):c.2859C>T (p.Asp953=)
|
rs149112292
|
|
NM_000135.4(FANCA):c.285_522+1del
|
rs2040843894
|
|
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)
|
|
|
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.2868G>A (p.Gln956=)
|
|
|
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)
|
rs927630499
|
|
NM_000135.4(FANCA):c.2872del (p.Ala958fs)
|
rs2038844082
|
|
NM_000135.4(FANCA):c.2874G>C (p.Ala958=)
|
|
|
NM_000135.4(FANCA):c.2877C>A (p.Ile959=)
|
rs369548782
|
|
NM_000135.4(FANCA):c.2877C>G (p.Ile959Met)
|
|
|
NM_000135.4(FANCA):c.2877C>T (p.Ile959=)
|
|
|
NM_000135.4(FANCA):c.2878C>G (p.His960Asp)
|
|
|
NM_000135.4(FANCA):c.2878C>T (p.His960Tyr)
|
rs923046981
|
|
NM_000135.4(FANCA):c.2880T>A (p.His960Gln)
|
rs2038843708
|
|
NM_000135.4(FANCA):c.2882A>C (p.Glu961Ala)
|
|
|
NM_000135.4(FANCA):c.2885A>T (p.His962Leu)
|
|
|
NM_000135.4(FANCA):c.2885_2888dup (p.Phe963fs)
|
|
|
NM_000135.4(FANCA):c.2886C>T (p.His962=)
|
rs1455455628
|
|
NM_000135.4(FANCA):c.2889T>C (p.Phe963=)
|
|
|
NM_000135.4(FANCA):c.2892C>A (p.Leu964=)
|
rs2143225154
|
|
NM_000135.4(FANCA):c.2892C>T (p.Leu964=)
|
rs2143225154
|
|
NM_000135.4(FANCA):c.2893C>G (p.Pro965Ala)
|
|
|
NM_000135.4(FANCA):c.2894_2895del (p.Pro965fs)
|
|
|
NM_000135.4(FANCA):c.2895T>C (p.Pro965=)
|
|
|
NM_000135.4(FANCA):c.2896G>A (p.Glu966Lys)
|
rs1192724266
|
|
NM_000135.4(FANCA):c.2896G>T (p.Glu966Ter)
|
rs1192724266
|
|
NM_000135.4(FANCA):c.2901C>G (p.Ser967=)
|
|
|
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)
|
rs568354015
|
|
NM_000135.4(FANCA):c.2904G>C (p.Ser968=)
|
rs568354015
|
|
NM_000135.4(FANCA):c.2908T>C (p.Ser970Pro)
|
|
|
NM_000135.4(FANCA):c.2910del (p.Gly972fs)
|
rs1278836130
|
|
NM_000135.4(FANCA):c.2912G>C (p.Gly971Ala)
|
|
|
NM_000135.4(FANCA):c.2914G>A (p.Gly972Ser)
|
rs764155334
|
|
NM_000135.4(FANCA):c.2914G>T (p.Gly972Cys)
|
|
|
NM_000135.4(FANCA):c.2915del (p.Gly972fs)
|
|
|
NM_000135.4(FANCA):c.291_295del (p.Leu98fs)
|
|
|
NM_000135.4(FANCA):c.2922C>A (p.Asp974Glu)
|
rs756241886
|
|
NM_000135.4(FANCA):c.2924_2940dup (p.Cys981fs)
|
|
|
NM_000135.4(FANCA):c.2928C>T (p.Asp976=)
|
rs1389873954
|
|
NM_000135.4(FANCA):c.2929C>T (p.Leu977=)
|
|
|
NM_000135.4(FANCA):c.2931G>A (p.Leu977=)
|
|
|
NM_000135.4(FANCA):c.2931G>T (p.Leu977=)
|
|
|
NM_000135.4(FANCA):c.2932C>T (p.Gln978Ter)
|
|
|
NM_000135.4(FANCA):c.2936C>G (p.Ala979Gly)
|
|
|
NM_000135.4(FANCA):c.2938G>C (p.Ala980Pro)
|
rs2038841366
|
|
NM_000135.4(FANCA):c.2942G>C (p.Cys981Ser)
|
rs1555542910
|
|
NM_000135.4(FANCA):c.2945C>G (p.Thr982Ser)
|
rs772577909
|
|
NM_000135.4(FANCA):c.2946C>A (p.Thr982=)
|
|
|
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer)
|
rs1598191053
|
|
NM_000135.4(FANCA):c.2957del (p.Asn986fs)
|
|
|
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro)
|
rs752735858
|
|
NM_000135.4(FANCA):c.2959G>T (p.Ala987Ser)
|
rs752735858
|
|
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)
|
rs1057516430
|
|
NM_000135.4(FANCA):c.2960C>T (p.Ala987Val)
|
|
|
NM_000135.4(FANCA):c.2962C>T (p.Leu988=)
|
rs2143224238
|
|
NM_000135.4(FANCA):c.2964G>A (p.Leu988=)
|
rs751495133
|
|
NM_000135.4(FANCA):c.2970T>C (p.Asp990=)
|
rs2143224147
|
|
NM_000135.4(FANCA):c.2976C>G (p.His992Gln)
|
rs527882851
|
|
NM_000135.4(FANCA):c.2976C>T (p.His992=)
|
|
|
NM_000135.4(FANCA):c.2977C>T (p.Gln993Ter)
|
|
|
NM_000135.4(FANCA):c.2981+11C>T
|
|
|
NM_000135.4(FANCA):c.2981+13C>T
|
|
|
NM_000135.4(FANCA):c.2981+14A>G
|
|
|
NM_000135.4(FANCA):c.2981+15C>G
|
|
|
NM_000135.4(FANCA):c.2981+18T>C
|
|
|
NM_000135.4(FANCA):c.2981+19A>G
|
|
|
NM_000135.4(FANCA):c.2981+1G>A
|
rs1555542860
|
|
NM_000135.4(FANCA):c.2981+3T>A
|
|
|
NM_000135.4(FANCA):c.2981+3T>C
|
rs2038838887
|
|
NM_000135.4(FANCA):c.2981+8G>A
|
|
|
NM_000135.4(FANCA):c.2981+8G>C
|
|
|
NM_000135.4(FANCA):c.2981+8_2981+10del
|
|
|
NM_000135.4(FANCA):c.2981+9C>A
|
rs2143223878
|
|
NM_000135.4(FANCA):c.2981+9C>G
|
|
|
NM_000135.4(FANCA):c.2981+9C>T
|
|
|
NM_000135.4(FANCA):c.2982-15G>T
|
rs55718325
|
|
NM_000135.4(FANCA):c.2982-192A>C
|
|
|
NM_000135.4(FANCA):c.2982-192A>G
|
rs2038628210
|
|
NM_000135.4(FANCA):c.2982-19T>C
|
|
|
NM_000135.4(FANCA):c.2982-1G>C
|
rs1555540076
|
|
NM_000135.4(FANCA):c.2982-8C>T
|
|
|
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg)
|
rs1555540072
|
|
NM_000135.4(FANCA):c.2984C>A (p.Ser995Ter)
|
|
|
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
|
|
|
NM_000135.4(FANCA):c.2985A>G (p.Ser995=)
|
rs1598081370
|
|
NM_000135.4(FANCA):c.2985A>T (p.Ser995=)
|
rs1598081370
|
|
NM_000135.4(FANCA):c.2989A>T (p.Ser997Cys)
|
rs2038619848
|
|
NM_000135.4(FANCA):c.298G>C (p.Asp100His)
|
|
|
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs)
|
rs1555540048
|
|
NM_000135.4(FANCA):c.2991T>C (p.Ser997=)
|
|
|
NM_000135.4(FANCA):c.2993dup (p.Tyr998Ter)
|
|
|
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
|
|
|
NM_000135.4(FANCA):c.2995G>C (p.Asp999His)
|
rs1277218406
|
|
NM_000135.4(FANCA):c.2996A>G (p.Asp999Gly)
|
rs2143164062
|
|
NM_000135.4(FANCA):c.2997C>T (p.Asp999=)
|
rs1393198725
|
|
NM_000135.4(FANCA):c.3003A>T (p.Ser1001=)
|
rs2038619241
|
|
NM_000135.4(FANCA):c.3009T>C (p.Asn1003=)
|
rs1001303157
|
|
NM_000135.4(FANCA):c.3012T>A (p.Ser1004=)
|
|
|
NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter)
|
rs2038618125
|
|
NM_000135.4(FANCA):c.3018G>T (p.Leu1006Phe)
|
rs1439833580
|
|
NM_000135.4(FANCA):c.3019_3020insCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCTCTCCCCACGGTCTCCCTCTCATGTGGAGCCGAAGCTGGACTGTACTGCTGCCATCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATTCTGATTTGG (p.Val1007fs)
|
rs2143163813
|
|
NM_000135.4(FANCA):c.301C>T (p.Gln101Ter)
|
|
|
NM_000135.4(FANCA):c.3021C>A (p.Val1007=)
|
rs2143163779
|
|
NM_000135.4(FANCA):c.3021C>G (p.Val1007=)
|
|
|
NM_000135.4(FANCA):c.3021_3027del (p.Phe1008fs)
|
rs2038617702
|
|
NM_000135.4(FANCA):c.3026G>T (p.Gly1009Val)
|
|
|
NM_000135.4(FANCA):c.3027T>G (p.Gly1009=)
|
rs2143163711
|
|
NM_000135.4(FANCA):c.3029G>T (p.Gly1010Val)
|
rs767105291
|
|
NM_000135.4(FANCA):c.3036A>C (p.Thr1012=)
|
|
|
NM_000135.4(FANCA):c.3036A>G (p.Thr1012=)
|
rs2038617235
|
|
NM_000135.4(FANCA):c.3043G>A (p.Glu1015Lys)
|
rs1443921504
|
|
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
|
|
|
NM_000135.4(FANCA):c.3045G>C (p.Glu1015Asp)
|
rs147661788
|
|
NM_000135.4(FANCA):c.3046G>A (p.Asp1016Asn)
|
|
|
NM_000135.4(FANCA):c.3047dup (p.Asp1016fs)
|
|
|
NM_000135.4(FANCA):c.3056C>A (p.Ser1019Tyr)
|
rs762111755
|
|
NM_000135.4(FANCA):c.3056C>G (p.Ser1019Cys)
|
rs762111755
|
|
NM_000135.4(FANCA):c.3057C>A (p.Ser1019=)
|
|
|
NM_000135.4(FANCA):c.3057C>T (p.Ser1019=)
|
|
|
NM_000135.4(FANCA):c.3058A>C (p.Arg1020=)
|
|
|
NM_000135.4(FANCA):c.3059G>C (p.Arg1020Thr)
|
rs777061373
|
|
NM_000135.4(FANCA):c.3061T>C (p.Leu1021=)
|
rs2143163305
|
|
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp)
|
rs891626452
|
|
NM_000135.4(FANCA):c.3064C>T (p.Gln1022Ter)
|
rs2143163267
|
|
NM_000135.4(FANCA):c.3066+10A>T
|
rs2143163210
|
|
NM_000135.4(FANCA):c.3066+11G>A
|
|
|
NM_000135.4(FANCA):c.3066+12G>A
|
|
|
NM_000135.4(FANCA):c.3066+13_3066+75del
|
|
|
NM_000135.4(FANCA):c.3066+17C>T
|
|
|
NM_000135.4(FANCA):c.3066+19C>G
|
|
|
NM_000135.4(FANCA):c.3066+19C>T
|
|
|
NM_000135.4(FANCA):c.3066+1G>A
|
rs587783028
|
|
NM_000135.4(FANCA):c.3066+1G>C
|
|
|
NM_000135.4(FANCA):c.3066+1G>T
|
rs587783028
|
|
NM_000135.4(FANCA):c.3066+3_3066+9delinsCC
|
rs2038616017
|
|
NM_000135.4(FANCA):c.3066G>C (p.Gln1022His)
|
|
|
NM_000135.4(FANCA):c.3067-10T>A
|
|
|
NM_000135.4(FANCA):c.3067-10T>C
|
rs1379021525
|
|
NM_000135.4(FANCA):c.3067-14C>G
|
rs1227291634
|
|
NM_000135.4(FANCA):c.3067-15A>G
|
|
|
NM_000135.4(FANCA):c.3067-17A>G
|
rs1598077091
|
|
NM_000135.4(FANCA):c.3067-1G>A
|
rs2038522097
|
|
NM_000135.4(FANCA):c.3067-20A>T
|
|
|
NM_000135.4(FANCA):c.3067-2A>G
|
rs2143140176
|
|
NM_000135.4(FANCA):c.3067-3C>T
|
|
|
NM_000135.4(FANCA):c.3067-8T>C
|
|
|
NM_000135.4(FANCA):c.3067-9C>G
|
rs1271317902
|
|
NM_000135.4(FANCA):c.3068A>G (p.Glu1023Gly)
|
|
|
NM_000135.4(FANCA):c.306C>G (p.Ala102=)
|
|
|
NM_000135.4(FANCA):c.306del (p.Ser103fs)
|
|
|
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val)
|
rs1567603987
|
|
NM_000135.4(FANCA):c.3073G>T (p.Val1025Leu)
|
|
|
NM_000135.4(FANCA):c.3075A>G (p.Val1025=)
|
rs780769017
|
|
NM_000135.4(FANCA):c.3075A>T (p.Val1025=)
|
rs780769017
|
|
NM_000135.4(FANCA):c.3081C>T (p.Asp1027=)
|
rs751033993
|
|
NM_000135.4(FANCA):c.3082C>T (p.Leu1028=)
|
rs1447648920
|
|
NM_000135.4(FANCA):c.3084G>A (p.Leu1028=)
|
rs2038521694
|
|
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter)
|
rs1555538740
|
|
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.3091del (p.Gln1031fs)
|
rs2143139861
|
|
NM_000135.4(FANCA):c.3096A>G (p.Gln1032=)
|
rs764351074
|
|
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
|
|
|
NM_000135.4(FANCA):c.3099C>T (p.Asp1033=)
|
rs139289675
|
|
NM_000135.4(FANCA):c.309A>C (p.Ser103=)
|
rs1284727333
|
|
NM_000135.4(FANCA):c.3100C>G (p.Leu1034Val)
|
|
|
NM_000135.4(FANCA):c.3102C>T (p.Leu1034=)
|
rs1216824664
|
|
NM_000135.4(FANCA):c.3109C>G (p.Pro1037Ala)
|
rs771174892
|
|
NM_000135.4(FANCA):c.310A>C (p.Arg104=)
|
rs2143680951
|
|
NM_000135.4(FANCA):c.3112_3139del (p.Leu1038fs)
|
rs2143139284
|
|
NM_000135.4(FANCA):c.3116G>A (p.Gly1039Asp)
|
rs1292002479
|
|
NM_000135.4(FANCA):c.3116del (p.Gly1039fs)
|
|
|
NM_000135.4(FANCA):c.3117C>G (p.Gly1039=)
|
rs2143139529
|
|
NM_000135.4(FANCA):c.311G>A (p.Arg104Lys)
|
rs1057245679
|
|
NM_000135.4(FANCA):c.3120C>T (p.His1040=)
|
rs1567603921
|
|
NM_000135.4(FANCA):c.3121A>T (p.Thr1041Ser)
|
rs769635187
|
|
NM_000135.4(FANCA):c.3123C>G (p.Thr1041=)
|
rs978882053
|
|
NM_000135.4(FANCA):c.3123C>T (p.Thr1041=)
|
|
|
NM_000135.4(FANCA):c.3124C>T (p.Pro1042Ser)
|
rs1355177352
|
|
NM_000135.4(FANCA):c.3126T>A (p.Pro1042=)
|
|
|
NM_000135.4(FANCA):c.3126T>G (p.Pro1042=)
|
rs2038519967
|
|
NM_000135.4(FANCA):c.3128C>T (p.Ser1043Phe)
|
rs964766722
|
|
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.3134A>C (p.Glu1045Ala)
|
rs2143139368
|
|
NM_000135.4(FANCA):c.3135G>A (p.Glu1045=)
|
|
|
NM_000135.4(FANCA):c.313C>T (p.Leu105=)
|
|
|
NM_000135.4(FANCA):c.3141_3146del (p.Leu1048_Phe1049del)
|
rs2038519209
|
|
NM_000135.4(FANCA):c.3142C>G (p.Leu1048Val)
|
rs2143139226
|
|
NM_000135.4(FANCA):c.3142_3147del (p.Leu1048_Phe1049del)
|
rs2143139177
|
|
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)
|
rs1405317971
|
|
NM_000135.4(FANCA):c.3144C>G (p.Leu1048=)
|
rs1302242291
|
|
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.3149A>C (p.Glu1050Ala)
|
rs954683462
|
|
NM_000135.4(FANCA):c.3150G>A (p.Glu1050=)
|
rs2143139115
|
|
NM_000135.4(FANCA):c.3150G>C (p.Glu1050Asp)
|
rs2143139115
|
|
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)
|
|
|
NM_000135.4(FANCA):c.3154_3155del (p.Phe1052fs)
|
rs2143139061
|
|
NM_000135.4(FANCA):c.3155T>C (p.Phe1052Ser)
|
|
|
NM_000135.4(FANCA):c.3156C>T (p.Phe1052=)
|
rs373305027
|
|
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His)
|
rs371351450
|
|
NM_000135.4(FANCA):c.3160A>C (p.Arg1054=)
|
|
|
NM_000135.4(FANCA):c.3162_3171del (p.Arg1055fs)
|
rs2143138748
|
|
NM_000135.4(FANCA):c.3163C>A (p.Arg1055=)
|
rs753063086
|
|
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.3164G>A (p.Arg1055Gln)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3164_3179del (p.Arg1055fs)
|
|
|
NM_000135.4(FANCA):c.3166_3185dup (p.Gly1062_Trp1063insSerArgLeuTer)
|
rs2038517512
|
|
NM_000135.4(FANCA):c.3168C>G (p.Leu1056=)
|
rs377633991
|
|
NM_000135.4(FANCA):c.3169C>T (p.Gln1057Ter)
|
rs373545111
|
|
NM_000135.4(FANCA):c.3169del (p.Gln1057fs)
|
rs2143138814
|
|
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val)
|
rs964650941
|
|
NM_000135.4(FANCA):c.3175_3176del (p.Leu1059fs)
|
|
|
NM_000135.4(FANCA):c.3177G>C (p.Leu1059=)
|
rs2143138665
|
|
NM_000135.4(FANCA):c.3177G>T (p.Leu1059=)
|
rs2143138665
|
|
NM_000135.4(FANCA):c.3180A>T (p.Thr1060=)
|
|
|
NM_000135.4(FANCA):c.3184G>C (p.Gly1062Arg)
|
rs142379991
|
|
NM_000135.4(FANCA):c.3184_3186delinsTGCC (p.Gly1062fs)
|
rs2143138507
|
|
NM_000135.4(FANCA):c.3186G>T (p.Gly1062=)
|
rs2038517320
|
|
NM_000135.4(FANCA):c.3186dup (p.Trp1063fs)
|
|
|
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)
|
rs1166286386
|
|
NM_000135.4(FANCA):c.3188G>C (p.Trp1063Ser)
|
rs1166286386
|
|
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)
|
rs776391208
|
|
NM_000135.4(FANCA):c.3189G>T (p.Trp1063Cys)
|
|
|
NM_000135.4(FANCA):c.318G>A (p.Gly106=)
|
|
|
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly)
|
rs1014152202
|
|
NM_000135.4(FANCA):c.3193G>C (p.Val1065Leu)
|
rs140124051
|
|
NM_000135.4(FANCA):c.3195G>A (p.Val1065=)
|
rs2143138336
|
|
NM_000135.4(FANCA):c.3195G>C (p.Val1065=)
|
|
|
NM_000135.4(FANCA):c.3197C>G (p.Ala1066Gly)
|
rs1419279017
|
|
NM_000135.4(FANCA):c.319del (p.Val107fs)
|
rs1411237340
|
|
NM_000135.4(FANCA):c.3201C>A (p.Ala1067=)
|
|
|
NM_000135.4(FANCA):c.3202A>G (p.Ser1068Gly)
|
|
|
NM_000135.4(FANCA):c.3204C>T (p.Ser1068=)
|
|
|
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg)
|
rs756620986
|
|
NM_000135.4(FANCA):c.3207T>C (p.Leu1069=)
|
rs2143138181
|
|
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
|
|
|
NM_000135.4(FANCA):c.3211A>C (p.Arg1071=)
|
|
|
NM_000135.4(FANCA):c.3212_3213del (p.Arg1071fs)
|
rs2143138138
|
|
NM_000135.4(FANCA):c.3216G>A (p.Gln1072=)
|
rs753298211
|
|
NM_000135.4(FANCA):c.3216G>C (p.Gln1072His)
|
rs753298211
|
|
NM_000135.4(FANCA):c.3218G>A (p.Arg1073Lys)
|
|
|
NM_000135.4(FANCA):c.3219G>A (p.Arg1073=)
|
rs755453758
|
|
NM_000135.4(FANCA):c.321T>C (p.Val107=)
|
rs2143680806
|
|
NM_000135.4(FANCA):c.3222G>A (p.Glu1074=)
|
rs575923160
|
|
NM_000135.4(FANCA):c.3225G>C (p.Leu1075=)
|
|
|
NM_000135.4(FANCA):c.3228A>G (p.Leu1076=)
|
rs765285538
|
|
NM_000135.4(FANCA):c.3230T>C (p.Met1077Thr)
|
rs776603588
|
|
NM_000135.4(FANCA):c.3233A>G (p.Tyr1078Cys)
|
|
|
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter)
|
rs764030196
|
|
NM_000135.4(FANCA):c.3238C>A (p.Arg1080=)
|
|
|
NM_000135.4(FANCA):c.3239+10A>G
|
|
|
NM_000135.4(FANCA):c.3239+11C>G
|
rs200232122
|
|
NM_000135.4(FANCA):c.3239+11C>T
|
|
|
NM_000135.4(FANCA):c.3239+12T>C
|
|
|
NM_000135.4(FANCA):c.3239+14C>T
|
|
|
NM_000135.4(FANCA):c.3239+15C>T
|
|
|
NM_000135.4(FANCA):c.3239+17C>A
|
|
|
NM_000135.4(FANCA):c.3239+18C>A
|
rs781742623
|
|
NM_000135.4(FANCA):c.3239+1G>A
|
rs2143137762
|
|
NM_000135.4(FANCA):c.3239+1dup
|
rs766989857
|
|
NM_000135.4(FANCA):c.3239+2T>G
|
rs1567603724
|
|
NM_000135.4(FANCA):c.3239+7C>G
|
rs775293779
|
|
NM_000135.4(FANCA):c.3239+82T>G
|
rs2038511531
|
|
NM_000135.4(FANCA):c.3239+8C>T
|
rs2038514547
|
|
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.323C>T (p.Pro108Leu)
|
|
|
NM_000135.4(FANCA):c.3240-12C>G
|
|
|
NM_000135.4(FANCA):c.3240-12C>T
|
|
|
NM_000135.4(FANCA):c.3240-16A>G
|
|
|
NM_000135.4(FANCA):c.3240-17C>A
|
rs780439636
|
|
NM_000135.4(FANCA):c.3240-17C>T
|
rs780439636
|
|
NM_000135.4(FANCA):c.3240-18A>T
|
|
|
NM_000135.4(FANCA):c.3240-1G>A
|
rs2038478071
|
|
NM_000135.4(FANCA):c.3240-20A>G
|
|
|
NM_000135.4(FANCA):c.3240-2A>G
|
rs2038478110
|
|
NM_000135.4(FANCA):c.3240-3C>T
|
rs1315428324
|
|
NM_000135.4(FANCA):c.3240-8C>G
|
rs2143128494
|
|
NM_000135.4(FANCA):c.3240G>A (p.Arg1080=)
|
|
|
NM_000135.4(FANCA):c.3243C>A (p.Ile1081=)
|
rs2143128420
|
|
NM_000135.4(FANCA):c.3244C>T (p.Leu1082Phe)
|
rs2038477938
|
|
NM_000135.4(FANCA):c.3244_3250del (p.Leu1082fs)
|
rs2143128346
|
|
NM_000135.4(FANCA):c.3246C>G (p.Leu1082=)
|
rs753864057
|
|
NM_000135.4(FANCA):c.3247C>T (p.Leu1083Phe)
|
rs2143128365
|
|
NM_000135.4(FANCA):c.324C>A (p.Pro108=)
|
|
|
NM_000135.4(FANCA):c.324C>G (p.Pro108=)
|
rs775822054
|
|
NM_000135.4(FANCA):c.3251G>C (p.Arg1084Pro)
|
|
|
NM_000135.4(FANCA):c.3251G>T (p.Arg1084Leu)
|
rs752642945
|
|
NM_000135.4(FANCA):c.3252C>T (p.Arg1084=)
|
|
|
NM_000135.4(FANCA):c.3254T>G (p.Leu1085Arg)
|
|
|
NM_000135.4(FANCA):c.3255G>A (p.Leu1085=)
|
rs1485904394
|
|
NM_000135.4(FANCA):c.3255G>C (p.Leu1085=)
|
|
|
NM_000135.4(FANCA):c.3258T>C (p.Pro1086=)
|
|
|
NM_000135.4(FANCA):c.325G>A (p.Val109Met)
|
rs772639206
|
|
NM_000135.4(FANCA):c.3260C>A (p.Ser1087Ter)
|
|
|
NM_000135.4(FANCA):c.3261G>C (p.Ser1087=)
|
|
|
NM_000135.4(FANCA):c.3264T>C (p.Ser1088=)
|
rs1167053992
|
|
NM_000135.4(FANCA):c.3264_3267del (p.Val1089fs)
|
rs1035003476
|
|
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.3270_3271del (p.Cys1091fs)
|
rs2143128062
|
|
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter)
|
rs1450151864
|
|
NM_000135.4(FANCA):c.3273C>T (p.Cys1091=)
|
rs1450151864
|
|
NM_000135.4(FANCA):c.3276C>T (p.Gly1092=)
|
|
|
NM_000135.4(FANCA):c.327G>C (p.Val109=)
|
|
|
NM_000135.4(FANCA):c.3281G>A (p.Ser1094Asn)
|
|
|
NM_000135.4(FANCA):c.3281G>C (p.Ser1094Thr)
|
rs946572285
|
|
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg)
|
rs761244757
|
|
NM_000135.4(FANCA):c.3282C>T (p.Ser1094=)
|
rs761244757
|
|
NM_000135.4(FANCA):c.3286C>G (p.Gln1096Glu)
|
|
|
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter)
|
rs775799529
|
|
NM_000135.4(FANCA):c.3287A>G (p.Gln1096Arg)
|
rs1598074664
|
|
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)
|
rs1433848980
|
|
NM_000135.4(FANCA):c.3291A>G (p.Ala1097=)
|
rs2143127816
|
|
NM_000135.4(FANCA):c.3293A>G (p.Glu1098Gly)
|
|
|
NM_000135.4(FANCA):c.3295C>T (p.Gln1099Ter)
|
|
|
NM_000135.4(FANCA):c.3297G>A (p.Gln1099=)
|
rs779268656
|
|
NM_000135.4(FANCA):c.3299C>A (p.Pro1100His)
|
|
|
NM_000135.4(FANCA):c.3301A>G (p.Ile1101Val)
|
rs2038475500
|
|
NM_000135.4(FANCA):c.3302_3308del (p.Ile1101fs)
|
|
|
NM_000135.4(FANCA):c.3305C>T (p.Thr1102Ile)
|
rs771117949
|
|
NM_000135.4(FANCA):c.330T>C (p.Gly110=)
|
rs2143680634
|
|
NM_000135.4(FANCA):c.3310A>T (p.Arg1104Ter)
|
|
|
NM_000135.4(FANCA):c.3311G>C (p.Arg1104Thr)
|
|
|
NM_000135.4(FANCA):c.3312A>G (p.Arg1104=)
|
rs1598074599
|
|
NM_000135.4(FANCA):c.3315C>A (p.Cys1105Ter)
|
|
|
NM_000135.4(FANCA):c.3315C>T (p.Cys1105=)
|
rs749550737
|
|
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter)
|
rs777825824
|
|
NM_000135.4(FANCA):c.3318G>A (p.Glu1106=)
|
|
|
NM_000135.4(FANCA):c.3318_3319delinsTT (p.Glu1106_Gln1107delinsAspTer)
|
|
|
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
|
|
|
NM_000135.4(FANCA):c.331_334dup (p.Leu112fs)
|
rs2040859131
|
|
NM_000135.4(FANCA):c.3321G>T (p.Gln1107His)
|
rs1276452090
|
|
NM_000135.4(FANCA):c.3324C>T (p.Phe1108=)
|
rs2143127434
|
|
NM_000135.4(FANCA):c.3327C>T (p.Phe1109=)
|
|
|
NM_000135.4(FANCA):c.3328del (p.His1110fs)
|
|
|
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro)
|
rs752837228
|
|
NM_000135.4(FANCA):c.3330C>A (p.His1110Gln)
|
|
|
NM_000135.4(FANCA):c.3331T>G (p.Leu1111Val)
|
|
|
NM_000135.4(FANCA):c.3333G>A (p.Leu1111=)
|
|
|
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly)
|
rs2038474528
|
|
NM_000135.4(FANCA):c.3336C>G (p.Val1112=)
|
rs1249462859
|
|
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys)
|
rs1236607168
|
|
NM_000135.4(FANCA):c.3342T>C (p.Ser1114=)
|
rs2143127277
|
|
NM_000135.4(FANCA):c.3344A>G (p.Glu1115Gly)
|
rs1057520051
|
|
NM_000135.4(FANCA):c.3345G>A (p.Glu1115=)
|
|
|
NM_000135.4(FANCA):c.3348+11C>G
|
rs367624518
|
|
NM_000135.4(FANCA):c.3348+13T>C
|
|
|
NM_000135.4(FANCA):c.3348+15T>G
|
|
|
NM_000135.4(FANCA):c.3348+19C>G
|
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
NM_000135.4(FANCA):c.3348+20G>A
|
rs374602648
|
|
NM_000135.4(FANCA):c.3348+2T>G
|
|
|
NM_000135.4(FANCA):c.3348+4G>A
|
rs1217286568
|
|
NM_000135.4(FANCA):c.3348+5G>A
|
rs1343799019
|
|
NM_000135.4(FANCA):c.3348+7G>C
|
|
|
NM_000135.4(FANCA):c.3348+8C>G
|
rs571631071
|
|
NM_000135.4(FANCA):c.3348+8C>T
|
rs571631071
|
|
NM_000135.4(FANCA):c.3348+9C>T
|
rs2143127104
|
|
NM_000135.4(FANCA):c.3349-10T>C
|
|
|
NM_000135.4(FANCA):c.3349-11C>T
|
|
|
NM_000135.4(FANCA):c.3349-15T>C
|
|
|
NM_000135.4(FANCA):c.3349-18C>T
|
|
|
NM_000135.4(FANCA):c.3349-1G>C
|
|
|
NM_000135.4(FANCA):c.3349-2A>G
|
rs2038409874
|
|
NM_000135.4(FANCA):c.3349-5dup
|
|
|
NM_000135.4(FANCA):c.3349-6_3349-5del
|
rs2143109700
|
|
NM_000135.4(FANCA):c.3349-7T>C
|
|
|
NM_000135.4(FANCA):c.3349-8T>C
|
rs2143109726
|
|
NM_000135.4(FANCA):c.3349-9C>T
|
rs1463228706
|
|
NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr)
|
rs2038409656
|
|
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp)
|
rs371208490
|
|
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del)
|
rs1314042335
|
|
NM_000135.4(FANCA):c.3360C>T (p.Cys1120=)
|
rs2143109489
|
|
NM_000135.4(FANCA):c.3364C>T (p.His1122Tyr)
|
|
|
NM_000135.4(FANCA):c.336C>G (p.Leu112=)
|
rs774843944
|
|
NM_000135.4(FANCA):c.337_338del (p.Ala114fs)
|
rs2143680554
|
|
NM_000135.4(FANCA):c.339_340del (p.Ala114fs)
|
|
|
NM_000135.4(FANCA):c.3409-11C>T
|
|
|
NM_000135.4(FANCA):c.3409-2A>C
|
rs2143107119
|
|
NM_000135.4(FANCA):c.3409-2A>G
|
|
|
NM_000135.4(FANCA):c.3409-3C>T
|
|
|
NM_000135.4(FANCA):c.3409-3_3417del
|
|
|
NM_000135.4(FANCA):c.3409-5T>G
|
rs2038402047
|
|
NM_000135.4(FANCA):c.3409-6C>G
|
rs377428227
|
|
NM_000135.4(FANCA):c.3409-7C>T
|
|
|
NM_000135.4(FANCA):c.3409-8T>C
|
rs2038402291
|
|
NM_000135.4(FANCA):c.3412C>T (p.Leu1138Phe)
|
rs138417003
|
|
NM_000135.4(FANCA):c.3414C>A (p.Leu1138=)
|
rs2143107000
|
|
NM_000135.4(FANCA):c.3414C>T (p.Leu1138=)
|
|
|
NM_000135.4(FANCA):c.3417G>A (p.Leu1139=)
|
rs1376693764
|
|
NM_000135.4(FANCA):c.3418A>T (p.Asn1140Tyr)
|
|
|
NM_000135.4(FANCA):c.3419A>G (p.Asn1140Ser)
|
|
|
NM_000135.4(FANCA):c.3421G>A (p.Ala1141Thr)
|
|
|
NM_000135.4(FANCA):c.3421G>T (p.Ala1141Ser)
|
rs547984666
|
|
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)
|
rs587778318
|
|
NM_000135.4(FANCA):c.3424T>C (p.Cys1142Arg)
|
rs2038401184
|
|
NM_000135.4(FANCA):c.3425G>A (p.Cys1142Tyr)
|
|
|
NM_000135.4(FANCA):c.3425G>C (p.Cys1142Ser)
|
|
|
NM_000135.4(FANCA):c.3428T>C (p.Leu1143Pro)
|
|
|
NM_000135.4(FANCA):c.3428T>G (p.Leu1143Arg)
|
rs1188842855
|
|
NM_000135.4(FANCA):c.3429G>T (p.Leu1143=)
|
|
|
NM_000135.4(FANCA):c.342C>G (p.Ala114=)
|
rs777989691
|
|
NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln)
|
|
|
NM_000135.4(FANCA):c.3437G>A (p.Arg1146Lys)
|
|
|
NM_000135.4(FANCA):c.3439G>C (p.Asp1147His)
|
rs2038400529
|
|
NM_000135.4(FANCA):c.3439_3440del (p.Asp1147fs)
|
rs2143106522
|
|
NM_000135.4(FANCA):c.3441C>T (p.Asp1147=)
|
rs2038400468
|
|
NM_000135.4(FANCA):c.3450G>C (p.Leu1150=)
|
rs1266179547
|
|
NM_000135.4(FANCA):c.3450G>T (p.Leu1150=)
|
|
|
NM_000135.4(FANCA):c.3456C>G (p.Val1152=)
|
rs530619438
|
|
NM_000135.4(FANCA):c.3456C>T (p.Val1152=)
|
|
|
NM_000135.4(FANCA):c.345G>A (p.Gly115=)
|
|
|
NM_000135.4(FANCA):c.3462C>G (p.Phe1154Leu)
|
|
|
NM_000135.4(FANCA):c.3466C>G (p.Leu1156Val)
|
|
|
NM_000135.4(FANCA):c.3466_3467del (p.Leu1156fs)
|
rs2143106211
|
|
NM_000135.4(FANCA):c.3467T>A (p.Leu1156Gln)
|
rs1281597417
|
|
NM_000135.4(FANCA):c.3469G>T (p.Ala1157Ser)
|
rs1347794550
|
|
NM_000135.4(FANCA):c.346A>C (p.Met116Leu)
|
|
|
NM_000135.4(FANCA):c.3470C>T (p.Ala1157Val)
|
|
|
NM_000135.4(FANCA):c.3471C>G (p.Ala1157=)
|
rs2143106130
|
|
NM_000135.4(FANCA):c.3471C>T (p.Ala1157=)
|
|
|
NM_000135.4(FANCA):c.3477C>A (p.Cys1159Ter)
|
|
|
NM_000135.4(FANCA):c.3477C>T (p.Cys1159=)
|
rs2143106071
|
|
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
|
|
|
NM_000135.4(FANCA):c.3480G>A (p.Gln1160=)
|
rs983310870
|
|
NM_000135.4(FANCA):c.3480G>C (p.Gln1160His)
|
rs983310870
|
|
NM_000135.4(FANCA):c.3481A>G (p.Thr1161Ala)
|
|
|
NM_000135.4(FANCA):c.3482C>A (p.Thr1161Lys)
|
rs142833057
|
|
NM_000135.4(FANCA):c.3486A>G (p.Lys1162=)
|
rs746491969
|
|
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.3492C>G (p.Pro1164=)
|
|
|
NM_000135.4(FANCA):c.3493T>C (p.Leu1165=)
|
|
|
NM_000135.4(FANCA):c.3496A>G (p.Ile1166Val)
|
|
|
NM_000135.4(FANCA):c.3499T>C (p.Leu1167=)
|
rs2143105878
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
NM_000135.4(FANCA):c.3503C>T (p.Thr1168Ile)
|
|
|
NM_000135.4(FANCA):c.3504C>A (p.Thr1168=)
|
rs371464360
|
|
NM_000135.4(FANCA):c.3504C>G (p.Thr1168=)
|
rs371464360
|
|
NM_000135.4(FANCA):c.3504C>T (p.Thr1168=)
|
rs371464360
|
|
NM_000135.4(FANCA):c.3504_3513+55del
|
|
|
NM_000135.4(FANCA):c.3507T>C (p.Ser1169=)
|
rs1211736375
|
|
NM_000135.4(FANCA):c.3508G>C (p.Ala1170Pro)
|
rs778280114
|
|
NM_000135.4(FANCA):c.3512T>C (p.Leu1171Pro)
|
rs1598070682
|
|
NM_000135.4(FANCA):c.3513+10C>T
|
rs1431403785
|
|
NM_000135.4(FANCA):c.3513+12G>A
|
|
|
NM_000135.4(FANCA):c.3513+12G>T
|
|
|
NM_000135.4(FANCA):c.3513+14C>T
|
|
|
NM_000135.4(FANCA):c.3513+17G>A
|
|
|
NM_000135.4(FANCA):c.3513+17G>C
|
|
|
NM_000135.4(FANCA):c.3513+17_3513+19del
|
rs2038397381
|
|
NM_000135.4(FANCA):c.3513+1G>C
|
|
|
NM_000135.4(FANCA):c.3513+20T>C
|
|
|
NM_000135.4(FANCA):c.3513+20T>G
|
|
|
NM_000135.4(FANCA):c.3513+4G>A
|
rs878946193
|
|
NM_000135.4(FANCA):c.3513+4G>C
|
rs878946193
|
|
NM_000135.4(FANCA):c.3513+8A>G
|
|
|
NM_000135.4(FANCA):c.3513+9G>C
|
rs1394337237
|
|
NM_000135.4(FANCA):c.3513G>A (p.Leu1171=)
|
rs2038398296
|
|
NM_000135.4(FANCA):c.3514-10C>G
|
rs561558430
|
|
NM_000135.4(FANCA):c.3514-10C>T
|
rs561558430
|
|
NM_000135.4(FANCA):c.3514-11T>C
|
|
|
NM_000135.4(FANCA):c.3514-11T>G
|
|
|
NM_000135.4(FANCA):c.3514-11TC[2]
|
rs1442804362
|
|
NM_000135.4(FANCA):c.3514-13G>C
|
|
|
NM_000135.4(FANCA):c.3514-14T>C
|
|
|
NM_000135.4(FANCA):c.3514-15G>A
|
|
|
NM_000135.4(FANCA):c.3514-16G>C
|
|
|
NM_000135.4(FANCA):c.3514-1G>C
|
|
|
NM_000135.4(FANCA):c.3514-1G>T
|
rs2143088468
|
|
NM_000135.4(FANCA):c.3514-5C>A
|
rs2143088493
|
|
NM_000135.4(FANCA):c.3514-5C>T
|
|
|
NM_000135.4(FANCA):c.3514-6C>T
|
rs1018130831
|
|
NM_000135.4(FANCA):c.3514-7T>C
|
rs2143088550
|
|
NM_000135.4(FANCA):c.3514-8C>G
|
|
|
NM_000135.4(FANCA):c.3514-8C>T
|
rs2143088562
|
|
NM_000135.4(FANCA):c.3515T>C (p.Val1172Ala)
|
|
|
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del)
|
rs1555536446
|
|
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)
|
|
|
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
|
|
|
NM_000135.4(FANCA):c.3519G>C (p.Trp1173Cys)
|
|
|
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)
|
rs1598067532
|
|
NM_000135.4(FANCA):c.3525G>C (p.Pro1175=)
|
rs765106818
|
|
NM_000135.4(FANCA):c.3527G>T (p.Ser1176Ile)
|
|
|
NM_000135.4(FANCA):c.3528C>T (p.Ser1176=)
|
|
|
NM_000135.4(FANCA):c.3529C>T (p.Leu1177=)
|
rs2038335485
|
|
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)
|
rs886052482
|
|
NM_000135.4(FANCA):c.3532G>A (p.Glu1178Lys)
|
|
|
NM_000135.4(FANCA):c.3534G>A (p.Glu1178=)
|
rs1598067510
|
|
NM_000135.4(FANCA):c.3536C>T (p.Pro1179Leu)
|
|
|
NM_000135.4(FANCA):c.3538G>C (p.Val1180Leu)
|
rs372706571
|
|
NM_000135.4(FANCA):c.3539T>A (p.Val1180Glu)
|
rs2143088182
|
|
NM_000135.4(FANCA):c.353C>G (p.Ala118Gly)
|
|
|
NM_000135.4(FANCA):c.3540G>A (p.Val1180=)
|
rs1423399664
|
|
NM_000135.4(FANCA):c.3540_3545del (p.Leu1181_Leu1182del)
|
|
|
NM_000135.4(FANCA):c.3541C>T (p.Leu1181=)
|
rs2143088159
|
|
NM_000135.4(FANCA):c.3542T>G (p.Leu1181Arg)
|
rs1300778675
|
|
NM_000135.4(FANCA):c.3543G>A (p.Leu1181=)
|
|
|
NM_000135.4(FANCA):c.3543G>C (p.Leu1181=)
|
rs1336604242
|
|
NM_000135.4(FANCA):c.3543G>T (p.Leu1181=)
|
rs1336604242
|
|
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly)
|
rs763856094
|
|
NM_000135.4(FANCA):c.3548G>C (p.Cys1183Ser)
|
rs2143088016
|
|
NM_000135.4(FANCA):c.354C>T (p.Ala118=)
|
rs2143680281
|
|
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln)
|
rs147672303
|
|
NM_000135.4(FANCA):c.3552G>C (p.Arg1184=)
|
rs774029286
|
|
NM_000135.4(FANCA):c.3554G>A (p.Trp1185Ter)
|
rs770393751
|
|
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)
|
rs1185165443
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
NM_000135.4(FANCA):c.3560G>A (p.Arg1187Lys)
|
|
|
NM_000135.4(FANCA):c.3560dup (p.His1188fs)
|
rs2062211067
|
|
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
|
|
|
NM_000135.4(FANCA):c.3566G>T (p.Cys1189Phe)
|
|
|
NM_000135.4(FANCA):c.3567C>T (p.Cys1189=)
|
|
|
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter)
|
rs2062210802
|
|
NM_000135.4(FANCA):c.3569A>G (p.Gln1190Arg)
|
rs1450954823
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
NM_000135.4(FANCA):c.3570G>C (p.Gln1190His)
|
rs1382222104
|
|
NM_000135.4(FANCA):c.3574C>T (p.Pro1192Ser)
|
rs2062210666
|
|
NM_000135.4(FANCA):c.3577C>T (p.Leu1193=)
|
rs2143087511
|
|
NM_000135.4(FANCA):c.357T>C (p.Ser119=)
|
rs2143680257
|
|
NM_000135.4(FANCA):c.3580C>T (p.Pro1194Ser)
|
rs1415910337
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
NM_000135.4(FANCA):c.3582C>T (p.Pro1194=)
|
rs2143087454
|
|
NM_000135.4(FANCA):c.3583C>G (p.Arg1195Gly)
|
rs143642304
|
|
NM_000135.4(FANCA):c.3586G>C (p.Glu1196Gln)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3589C>T (p.Leu1197=)
|
rs2143087368
|
|
NM_000135.4(FANCA):c.3591G>C (p.Leu1197=)
|
rs55773634
|
|
NM_000135.4(FANCA):c.3591G>T (p.Leu1197=)
|
|
|
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)
|
rs1381684916
|
|
NM_000135.4(FANCA):c.3597G>A (p.Lys1199=)
|
rs1240994313
|
|
NM_000135.4(FANCA):c.3600A>G (p.Leu1200=)
|
rs2143087262
|
|
NM_000135.4(FANCA):c.3601C>T (p.Gln1201Ter)
|
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3603A>C (p.Gln1201His)
|
rs1157577447
|
|
NM_000135.4(FANCA):c.3605_3606delinsGC (p.Glu1202Gly)
|
rs2062210162
|
|
NM_000135.4(FANCA):c.360C>A (p.Ser120Arg)
|
rs968636087
|
|
NM_000135.4(FANCA):c.360C>T (p.Ser120=)
|
rs968636087
|
|
NM_000135.4(FANCA):c.3610C>A (p.Arg1204=)
|
|
|
NM_000135.4(FANCA):c.3610C>G (p.Arg1204Gly)
|
rs759303096
|
|
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.3613C>T (p.Gln1205Ter)
|
rs1313006784
|
|
NM_000135.4(FANCA):c.3620C>T (p.Ala1207Val)
|
|
|
NM_000135.4(FANCA):c.3621C>T (p.Ala1207=)
|
rs1269626015
|
|
NM_000135.4(FANCA):c.3623G>T (p.Ser1208Ile)
|
rs1351484293
|
|
NM_000135.4(FANCA):c.3625G>A (p.Asp1209Asn)
|
|
|
NM_000135.4(FANCA):c.3626+13G>T
|
rs2143086671
|
|
NM_000135.4(FANCA):c.3626+18G>C
|
|
|
NM_000135.4(FANCA):c.3626+19A>C
|
|
|
NM_000135.4(FANCA):c.3626+1G>C
|
rs34885858
|
|
NM_000135.4(FANCA):c.3626+1G>T
|
rs34885858
|
|
NM_000135.4(FANCA):c.3626+2T>G
|
|
|
NM_000135.4(FANCA):c.3626+5G>A
|
rs370801038
|
|
NM_000135.4(FANCA):c.3626+5G>C
|
rs370801038
|
|
NM_000135.4(FANCA):c.3626+7G>T
|
|
|
NM_000135.4(FANCA):c.3627-11C>G
|
|
|
NM_000135.4(FANCA):c.3627-11C>T
|
|
|
NM_000135.4(FANCA):c.3627-13C>T
|
|
|
NM_000135.4(FANCA):c.3627-13CT[2]
|
|
|
NM_000135.4(FANCA):c.3627-14T>A
|
|
|
NM_000135.4(FANCA):c.3627-14dup
|
|
|
NM_000135.4(FANCA):c.3627-16_3627-11dup
|
|
|
NM_000135.4(FANCA):c.3627-18C>A
|
|
|
NM_000135.4(FANCA):c.3627-18C>G
|
|
|
NM_000135.4(FANCA):c.3627-1G>A
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3627-1G>C
|
rs2062172440
|
|
NM_000135.4(FANCA):c.3627-20C>G
|
rs1567598547
|
|
NM_000135.4(FANCA):c.3627-3_3627-2del
|
rs2062172458
|
|
NM_000135.4(FANCA):c.3627-4C>G
|
rs2062172483
|
|
NM_000135.4(FANCA):c.3627-5C>A
|
rs1417894512
|
|
NM_000135.4(FANCA):c.3627-7G>C
|
rs1161905441
|
|
NM_000135.4(FANCA):c.3627-9C>G
|
|
|
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)
|
rs2062172394
|
|
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=)
|
rs776001484
|
|
NM_000135.4(FANCA):c.3631C>T (p.Leu1211Phe)
|
|
|
NM_000135.4(FANCA):c.3633C>G (p.Leu1211=)
|
|
|
NM_000135.4(FANCA):c.3635C>A (p.Ser1212Tyr)
|
|
|
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.3638dup (p.Pro1213_Glu1214insTer)
|
rs1567598488
|
|
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=)
|
rs1567598479
|
|
NM_000135.4(FANCA):c.3639del (p.Glu1214fs)
|
rs2062172051
|
|
NM_000135.4(FANCA):c.363G>C (p.Val121=)
|
|
|
NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter)
|
rs2062172011
|
|
NM_000135.4(FANCA):c.3641A>T (p.Glu1214Val)
|
|
|
NM_000135.4(FANCA):c.3646G>T (p.Ala1216Ser)
|
rs1262639465
|
|
NM_000135.4(FANCA):c.3648C>T (p.Ala1216=)
|
|
|
NM_000135.4(FANCA):c.364G>T (p.Gly122Ter)
|
rs2040857662
|
|
NM_000135.4(FANCA):c.3650C>G (p.Ser1217Cys)
|
rs2062171853
|
|
NM_000135.4(FANCA):c.3652C>T (p.Pro1218Ser)
|
rs1555535564
|
|
NM_000135.4(FANCA):c.3653_3654inv (p.Pro1218Leu)
|
|
|
NM_000135.4(FANCA):c.3657A>T (p.Ala1219=)
|
rs2143062526
|
|
NM_000135.4(FANCA):c.3658C>G (p.Pro1220Ala)
|
|
|
NM_000135.4(FANCA):c.3659C>G (p.Pro1220Arg)
|
rs2062171639
|
|
NM_000135.4(FANCA):c.3662A>T (p.Asn1221Ile)
|
|
|
NM_000135.4(FANCA):c.3663C>T (p.Asn1221=)
|
rs781216012
|
|
NM_000135.4(FANCA):c.3664C>G (p.Pro1222Ala)
|
|
|
NM_000135.4(FANCA):c.3666G>T (p.Pro1222=)
|
rs780031277
|
|
NM_000135.4(FANCA):c.3672G>A (p.Trp1224Ter)
|
rs2143062233
|
|
NM_000135.4(FANCA):c.3675C>T (p.Leu1225=)
|
|
|
NM_000135.4(FANCA):c.3676_3677dup (p.Ala1227fs)
|
|
|
NM_000135.4(FANCA):c.3679G>A (p.Ala1227Thr)
|
|
|
NM_000135.4(FANCA):c.367C>A (p.Gln123Lys)
|
rs985886242
|
|
NM_000135.4(FANCA):c.367C>G (p.Gln123Glu)
|
rs985886242
|
|
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
|
|
|
NM_000135.4(FANCA):c.3682G>A (p.Ala1228Thr)
|
rs2062171185
|
|
NM_000135.4(FANCA):c.3683C>G (p.Ala1228Gly)
|
|
|
NM_000135.4(FANCA):c.3685G>A (p.Ala1229Thr)
|
rs2143062040
|
|
NM_000135.4(FANCA):c.3686C>G (p.Ala1229Gly)
|
rs1465548673
|
|
NM_000135.4(FANCA):c.368A>G (p.Gln123Arg)
|
|
|
NM_000135.4(FANCA):c.3691C>T (p.His1231Tyr)
|
|
|
NM_000135.4(FANCA):c.3696T>C (p.Phe1232=)
|
rs563966600
|
|
NM_000135.4(FANCA):c.3696T>G (p.Phe1232Leu)
|
rs563966600
|
|
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)
|
rs1555535527
|
|
NM_000135.4(FANCA):c.3698C>G (p.Ala1233Gly)
|
rs545742908
|
|
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)
|
rs545742908
|
|
NM_000135.4(FANCA):c.369G>A (p.Gln123=)
|
|
|
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val)
|
rs1598063117
|
|
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr)
|
rs886052481
|
|
NM_000135.4(FANCA):c.3703CAA[1] (p.Gln1236del)
|
rs1555535513
|
|
NM_000135.4(FANCA):c.3706C>G (p.Gln1236Glu)
|
|
|
NM_000135.4(FANCA):c.3708A>C (p.Gln1236His)
|
rs1192518263
|
|
NM_000135.4(FANCA):c.3715G>A (p.Glu1239Lys)
|
rs2143061441
|
|
NM_000135.4(FANCA):c.3715G>T (p.Glu1239Ter)
|
|
|
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.371T>C (p.Ile124Thr)
|
|
|
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.3726C>A (p.Ile1242=)
|
rs972127356
|
|
NM_000135.4(FANCA):c.3726C>T (p.Ile1242=)
|
|
|
NM_000135.4(FANCA):c.3727A>C (p.Arg1243=)
|
rs1051421921
|
|
NM_000135.4(FANCA):c.3729G>A (p.Arg1243=)
|
rs762929756
|
|
NM_000135.4(FANCA):c.372C>A (p.Ile124=)
|
rs765016775
|
|
NM_000135.4(FANCA):c.372C>G (p.Ile124Met)
|
rs765016775
|
|
NM_000135.4(FANCA):c.3732G>C (p.Lys1244Asn)
|
|
|
NM_000135.4(FANCA):c.3733C>T (p.Gln1245Ter)
|
|
|
NM_000135.4(FANCA):c.3740_3741insT (p.Lys1247fs)
|
rs2143060935
|
|
NM_000135.4(FANCA):c.3742A>C (p.Lys1248Gln)
|
|
|
NM_000135.4(FANCA):c.3745del (p.Leu1249fs)
|
rs1555535472
|
|
NM_000135.4(FANCA):c.374G>C (p.Cys125Ser)
|
rs761165542
|
|
NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter)
|
rs752126515
|
|
NM_000135.4(FANCA):c.3753C>T (p.Cys1251=)
|
|
|
NM_000135.4(FANCA):c.3754G>T (p.Glu1252Ter)
|
|
|
NM_000135.4(FANCA):c.3756G>A (p.Glu1252=)
|
|
|
NM_000135.4(FANCA):c.3757A>G (p.Arg1253Gly)
|
rs2143060537
|
|
NM_000135.4(FANCA):c.375C>T (p.Cys125=)
|
rs199793463
|
|
NM_000135.4(FANCA):c.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.3763G>T (p.Glu1255Ter)
|
rs2062169243
|
|
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
|
|
|
NM_000135.4(FANCA):c.3765+13del
|
|
|
NM_000135.4(FANCA):c.3765+14T>A
|
|
|
NM_000135.4(FANCA):c.3765+16C>G
|
|
|
NM_000135.4(FANCA):c.3765+16C>T
|
rs745639466
|
|
NM_000135.4(FANCA):c.3765+18T>G
|
|
|
NM_000135.4(FANCA):c.3765+19T>C
|
|
|
NM_000135.4(FANCA):c.3765+1G>A
|
|
|
NM_000135.4(FANCA):c.3765+1G>T
|
rs2062169124
|
|
NM_000135.4(FANCA):c.3765+20T>C
|
|
|
NM_000135.4(FANCA):c.3765+2C>T
|
rs776827467
|
|
NM_000135.4(FANCA):c.3765+7T>C
|
|
|
NM_000135.4(FANCA):c.3765+8A>C
|
rs2143060169
|
|
NM_000135.4(FANCA):c.376A>G (p.Thr126Ala)
|
|
|
NM_000135.4(FANCA):c.376A>T (p.Thr126Ser)
|
rs953219736
|
|
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.378G>A (p.Thr126=)
|
rs544680245
|
|
NM_000135.4(FANCA):c.378G>C (p.Thr126=)
|
rs544680245
|
|
NM_000135.4(FANCA):c.380C>T (p.Ala127Val)
|
rs2143679916
|
|
NM_000135.4(FANCA):c.381T>C (p.Ala127=)
|
rs771232511
|
|
NM_000135.4(FANCA):c.385G>A (p.Ala129Thr)
|
rs374945563
|
|
NM_000135.4(FANCA):c.386C>A (p.Ala129Glu)
|
rs577625130
|
|
NM_000135.4(FANCA):c.386C>G (p.Ala129Gly)
|
|
|
NM_000135.4(FANCA):c.387G>T (p.Ala129=)
|
|
|
NM_000135.4(FANCA):c.390G>T (p.Glu130Asp)
|
|
|
NM_000135.4(FANCA):c.393C>A (p.Thr131=)
|
rs1217316233
|
|
NM_000135.4(FANCA):c.394A>T (p.Ser132Cys)
|
|
|
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg)
|
rs1272640964
|
|
NM_000135.4(FANCA):c.396dup (p.His133fs)
|
rs2040855193
|
|
NM_000135.4(FANCA):c.397C>T (p.His133Tyr)
|
|
|
NM_000135.4(FANCA):c.401dup (p.Val135fs)
|
rs1555575253
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
NM_000135.4(FANCA):c.405G>A (p.Val135=)
|
rs1598190634
|
|
NM_000135.4(FANCA):c.406C>T (p.Leu136=)
|
rs2040854292
|
|
NM_000135.4(FANCA):c.414T>C (p.Thr138=)
|
|
|
NM_000135.4(FANCA):c.415G>A (p.Val139Met)
|
|
|
NM_000135.4(FANCA):c.416_417del (p.Val139fs)
|
rs864622188
|
|
NM_000135.4(FANCA):c.417G>C (p.Val139=)
|
rs2143679237
|
|
NM_000135.4(FANCA):c.418G>T (p.Glu140Ter)
|
rs2040853528
|
|
NM_000135.4(FANCA):c.423G>A (p.Gln141=)
|
rs1598190596
|
|
NM_000135.4(FANCA):c.423_426+14del
|
rs2143678941
|
|
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
|
rs2040853392
|
|
NM_000135.4(FANCA):c.425G>C (p.Arg142Thr)
|
|
|
NM_000135.4(FANCA):c.426+11A>G
|
|
|
NM_000135.4(FANCA):c.426+13C>G
|
|
|
NM_000135.4(FANCA):c.426+16A>G
|
rs1598190483
|
|
NM_000135.4(FANCA):c.426+17G>A
|
|
|
NM_000135.4(FANCA):c.426+18A>T
|
|
|
NM_000135.4(FANCA):c.426+1G>A
|
rs1343463467
|
|
NM_000135.4(FANCA):c.426+2T>A
|
rs1598190568
|
|
NM_000135.4(FANCA):c.426+2T>C
|
|
|
NM_000135.4(FANCA):c.426+2T>G
|
rs1598190568
|
|
NM_000135.4(FANCA):c.426+3A>G
|
|
|
NM_000135.4(FANCA):c.426+4A>G
|
|
|
NM_000135.4(FANCA):c.426+8A>C
|
|
|
NM_000135.4(FANCA):c.426+8A>G
|
|
|
NM_000135.4(FANCA):c.426+9C>A
|
|
|
NM_000135.4(FANCA):c.426+9C>G
|
rs1161434880
|
|
NM_000135.4(FANCA):c.427-10C>G
|
rs766856688
|
|
NM_000135.4(FANCA):c.427-12C>G
|
|
|
NM_000135.4(FANCA):c.427-12C>T
|
|
|
NM_000135.4(FANCA):c.427-12CT[2]
|
rs2143678081
|
|
NM_000135.4(FANCA):c.427-17G>A
|
|
|
NM_000135.4(FANCA):c.427-19dup
|
|
|
NM_000135.4(FANCA):c.427-20A>C
|
|
|
NM_000135.4(FANCA):c.427-2A>G
|
rs765684774
|
|
NM_000135.4(FANCA):c.427-3C>G
|
rs2040847223
|
|
NM_000135.4(FANCA):c.427-8C>G
|
rs750757532
|
|
NM_000135.4(FANCA):c.427-8C>T
|
rs750757532
|
|
NM_000135.4(FANCA):c.427-8_427-5del
|
rs2040847430
|
|
NM_000135.4(FANCA):c.427-9T>C
|
rs1598190255
|
|
NM_000135.4(FANCA):c.427A>C (p.Lys143Gln)
|
|
|
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)
|
rs539460201
|
|
NM_000135.4(FANCA):c.427_428delinsTG (p.Lys143Trp)
|
rs2040847073
|
|
NM_000135.4(FANCA):c.432G>A (p.Lys144=)
|
|
|
NM_000135.4(FANCA):c.432G>C (p.Lys144Asn)
|
|
|
NM_000135.4(FANCA):c.433C>T (p.Leu145=)
|
rs2143677903
|
|
NM_000135.4(FANCA):c.442C>T (p.Leu148=)
|
rs2040846687
|
|
NM_000135.4(FANCA):c.443del (p.Leu148fs)
|
|
|
NM_000135.4(FANCA):c.447dup (p.Glu150fs)
|
rs2040846500
|
|
NM_000135.4(FANCA):c.448G>T (p.Glu150Ter)
|
rs947111024
|
|
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
|
|
|
NM_000135.4(FANCA):c.453T>G (p.Phe151Leu)
|
rs2143677733
|
|
NM_000135.4(FANCA):c.456T>A (p.Ala152=)
|
|
|
NM_000135.4(FANCA):c.457C>T (p.Gln153Ter)
|
rs774448881
|
|
NM_000135.4(FANCA):c.459G>A (p.Gln153=)
|
rs2040846276
|
|
NM_000135.4(FANCA):c.462T>C (p.Tyr154=)
|
rs1598190143
|
|
NM_000135.4(FANCA):c.464T>A (p.Leu155Ter)
|
|
|
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.471A>G (p.Ala157=)
|
rs2143677575
|
|
NM_000135.4(FANCA):c.474C>T (p.His158=)
|
|
|
NM_000135.4(FANCA):c.487del (p.Arg163fs)
|
rs2040845588
|
|
NM_000135.4(FANCA):c.493T>A (p.Ser165Thr)
|
rs113468465
|
|
NM_000135.4(FANCA):c.494C>G (p.Ser165Cys)
|
rs141918444
|
|
NM_000135.4(FANCA):c.494C>T (p.Ser165Phe)
|
rs141918444
|
|
NM_000135.4(FANCA):c.495C>A (p.Ser165=)
|
|
|
NM_000135.4(FANCA):c.495C>G (p.Ser165=)
|
|
|
NM_000135.4(FANCA):c.495del (p.Phe166fs)
|
rs2143677288
|
|
NM_000135.4(FANCA):c.500G>A (p.Cys167Tyr)
|
rs1257428184
|
|
NM_000135.4(FANCA):c.504A>G (p.Gln168=)
|
|
|
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.506A>T (p.Glu169Val)
|
rs1403377153
|
|
NM_000135.4(FANCA):c.511T>C (p.Trp171Arg)
|
|
|
NM_000135.4(FANCA):c.512G>T (p.Trp171Leu)
|
rs2143677109
|
|
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.516A>G (p.Lys172=)
|
|
|
NM_000135.4(FANCA):c.520C>A (p.Gln174Lys)
|
rs1454055874
|
|
NM_000135.4(FANCA):c.520C>T (p.Gln174Ter)
|
rs1454055874
|
|
NM_000135.4(FANCA):c.522+10A>C
|
rs2143676941
|
|
NM_000135.4(FANCA):c.522+11G>A
|
|
|
NM_000135.4(FANCA):c.522+13T>C
|
rs2143676888
|
|
NM_000135.4(FANCA):c.522+17A>C
|
|
|
NM_000135.4(FANCA):c.522+17_522+20del
|
|
|
NM_000135.4(FANCA):c.522+19del
|
|
|
NM_000135.4(FANCA):c.522+2T>C
|
rs2143677013
|
|
NM_000135.4(FANCA):c.522+2T>G
|
|
|
NM_000135.4(FANCA):c.522+507_793-1273del
|
|
|
NM_000135.4(FANCA):c.522+6dup
|
rs2143676990
|
|
NM_000135.4(FANCA):c.522+8T>G
|
rs764367299
|
|
NM_000135.4(FANCA):c.523-10T>C
|
rs776200171
|
|
NM_000135.4(FANCA):c.523-11T>G
|
|
|
NM_000135.4(FANCA):c.523-14G>C
|
rs2040744991
|
|
NM_000135.4(FANCA):c.523-15T>C
|
|
|
NM_000135.4(FANCA):c.523-18T>G
|
|
|
NM_000135.4(FANCA):c.523-19GTTTT[2]
|
rs755643283
|
|
NM_000135.4(FANCA):c.523-19_523-16del
|
rs748945841
|
|
NM_000135.4(FANCA):c.523-19_523-17del
|
|
|
NM_000135.4(FANCA):c.523-1G>T
|
rs1477653630
|
|
NM_000135.4(FANCA):c.523-20del
|
|
|
NM_000135.4(FANCA):c.523-20dup
|
rs775750910
|
|
NM_000135.4(FANCA):c.523-24_523-10dup
|
|
|
NM_000135.4(FANCA):c.523-2A>G
|
rs746518509
|
|
NM_000135.4(FANCA):c.523-37TTGTTT[2]
|
rs530849202
|
|
NM_000135.4(FANCA):c.523-37TTGTTT[4]
|
|
|
NM_000135.4(FANCA):c.523-4dup
|
|
|
NM_000135.4(FANCA):c.523-5_523-4dup
|
rs2143657729
|
|
NM_000135.4(FANCA):c.523-7T>C
|
|
|
NM_000135.4(FANCA):c.523-8T>C
|
rs2143657783
|
|
NM_000135.4(FANCA):c.523-9G>C
|
rs2143657796
|
|
NM_000135.4(FANCA):c.523-9_523-6del
|
rs2143657759
|
|
NM_000135.4(FANCA):c.523-9_523-7del
|
rs777446762
|
|
NM_000135.4(FANCA):c.525T>C (p.Ser175=)
|
rs2143657669
|
|
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys)
|
rs35566151
|
|
NM_000135.4(FANCA):c.528T>C (p.Ser176=)
|
rs902257190
|
|
NM_000135.4(FANCA):c.529T>G (p.Leu177Val)
|
rs2040743961
|
|
NM_000135.4(FANCA):c.534G>A (p.Leu178=)
|
|
|
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
|
|
|
NM_000135.4(FANCA):c.541G>A (p.Ala181Thr)
|
rs2143657513
|
|
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu)
|
rs17232246
|
|
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val)
|
rs1598184528
|
|
NM_000135.4(FANCA):c.542dup (p.Val182fs)
|
|
|
NM_000135.4(FANCA):c.543G>T (p.Ala181=)
|
rs143314367
|
|
NM_000135.4(FANCA):c.544G>A (p.Val182Met)
|
|
|
NM_000135.4(FANCA):c.545T>C (p.Val182Ala)
|
rs2040743042
|
|
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)
|
rs1598184500
|
|
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)
|
rs758528624
|
|
NM_000135.4(FANCA):c.552T>C (p.His184=)
|
rs2143657286
|
|
NM_000135.4(FANCA):c.553C>G (p.Leu185Val)
|
rs587778323
|
|
NM_000135.4(FANCA):c.555del (p.His186fs)
|
|
|
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.559G>C (p.Val187Leu)
|
rs761538996
|
|
NM_000135.4(FANCA):c.560_561dup (p.Gln188fs)
|
|
|
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs)
|
rs2143657184
|
|
NM_000135.4(FANCA):c.561A>G (p.Val187=)
|
rs1050053060
|
|
NM_000135.4(FANCA):c.562C>T (p.Gln188Ter)
|
rs776471397
|
|
NM_000135.4(FANCA):c.564A>G (p.Gln188=)
|
rs760287473
|
|
NM_000135.4(FANCA):c.565G>C (p.Gly189Arg)
|
rs2143657111
|
|
NM_000135.4(FANCA):c.567C>G (p.Gly189=)
|
rs2143657102
|
|
NM_000135.4(FANCA):c.569T>C (p.Ile190Thr)
|
|
|
NM_000135.4(FANCA):c.570T>C (p.Ile190=)
|
|
|
NM_000135.4(FANCA):c.573G>C (p.Val191=)
|
rs2143657009
|
|
NM_000135.4(FANCA):c.574A>C (p.Ser192Arg)
|
|
|
NM_000135.4(FANCA):c.575G>T (p.Ser192Ile)
|
rs771439604
|
|
NM_000135.4(FANCA):c.577C>T (p.Leu193=)
|
rs141861208
|
|
NM_000135.4(FANCA):c.579G>T (p.Leu193=)
|
|
|
NM_000135.4(FANCA):c.581A>G (p.Gln194Arg)
|
|
|
NM_000135.4(FANCA):c.583G>A (p.Glu195Lys)
|
rs2143656849
|
|
NM_000135.4(FANCA):c.586C>T (p.Leu196=)
|
rs781718994
|
|
NM_000135.4(FANCA):c.588G>C (p.Leu196=)
|
|
|
NM_000135.4(FANCA):c.588G>T (p.Leu196=)
|
rs2143656786
|
|
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro)
|
rs886052488
|
|
NM_000135.4(FANCA):c.596+11A>G
|
|
|
NM_000135.4(FANCA):c.596+17G>A
|
|
|
NM_000135.4(FANCA):c.596+18A>G
|
|
|
NM_000135.4(FANCA):c.596+1G>A
|
|
|
NM_000135.4(FANCA):c.596+1G>C
|
rs2143656696
|
|
NM_000135.4(FANCA):c.596+20T>G
|
rs2143656568
|
|
NM_000135.4(FANCA):c.596+2T>C
|
rs1555573118
|
|
NM_000135.4(FANCA):c.596+548_793-219del
|
|
|
NM_000135.4(FANCA):c.596+6G>T
|
rs369548513
|
|
NM_000135.4(FANCA):c.596+9C>T
|
|
|
NM_000135.4(FANCA):c.597-10G>A
|
|
|
NM_000135.4(FANCA):c.597-11T>G
|
|
|
NM_000135.4(FANCA):c.597-13T>G
|
rs572176378
|
|
NM_000135.4(FANCA):c.597-14G>A
|
|
|
NM_000135.4(FANCA):c.597-14G>T
|
|
|
NM_000135.4(FANCA):c.597-14GT[3]
|
rs751501568
|
|
NM_000135.4(FANCA):c.597-16C>G
|
|
|
NM_000135.4(FANCA):c.597-16C>T
|
|
|
NM_000135.4(FANCA):c.597-18C>A
|
|
|
NM_000135.4(FANCA):c.597-18C>T
|
|
|
NM_000135.4(FANCA):c.597-2A>G
|
rs2040602804
|
|
NM_000135.4(FANCA):c.597-2A>T
|
|
|
NM_000135.4(FANCA):c.597-4C>G
|
rs2143632540
|
|
NM_000135.4(FANCA):c.597-6C>T
|
rs2143632553
|
|
NM_000135.4(FANCA):c.599A>G (p.His200Arg)
|
|
|
NM_000135.4(FANCA):c.603C>G (p.Pro201=)
|
|
|
NM_000135.4(FANCA):c.605A>G (p.Asp202Gly)
|
|
|
NM_000135.4(FANCA):c.607A>G (p.Met203Val)
|
rs2143632366
|
|
NM_000135.4(FANCA):c.614C>G (p.Ala205Gly)
|
rs777556447
|
|
NM_000135.4(FANCA):c.615T>A (p.Ala205=)
|
|
|
NM_000135.4(FANCA):c.616G>T (p.Val206Leu)
|
rs2143632297
|
|
NM_000135.4(FANCA):c.617T>C (p.Val206Ala)
|
|
|
NM_000135.4(FANCA):c.623C>G (p.Ser208Trp)
|
rs144420697
|
|
NM_000135.4(FANCA):c.624G>T (p.Ser208=)
|
rs922099383
|
|
NM_000135.4(FANCA):c.626G>A (p.Trp209Ter)
|
rs2143632171
|
|
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
|
|
|
NM_000135.4(FANCA):c.627G>C (p.Trp209Cys)
|
rs1018067067
|
|
NM_000135.4(FANCA):c.628C>G (p.Leu210Val)
|
rs2143632135
|
|
NM_000135.4(FANCA):c.629T>G (p.Leu210Arg)
|
rs2040601073
|
|
NM_000135.4(FANCA):c.631T>C (p.Phe211Leu)
|
|
|
NM_000135.4(FANCA):c.633C>T (p.Phe211=)
|
rs1162376354
|
|
NM_000135.4(FANCA):c.641T>G (p.Leu214Arg)
|
|
|
NM_000135.4(FANCA):c.642G>A (p.Leu214=)
|
|
|
NM_000135.4(FANCA):c.642G>T (p.Leu214=)
|
|
|
NM_000135.4(FANCA):c.643T>A (p.Cys215Ser)
|
|
|
NM_000135.4(FANCA):c.643_644del (p.Cys215fs)
|
rs1338138752
|
|
NM_000135.4(FANCA):c.644G>A (p.Cys215Tyr)
|
|
|
NM_000135.4(FANCA):c.645C>A (p.Cys215Ter)
|
|
|
NM_000135.4(FANCA):c.647G>C (p.Cys216Ser)
|
rs750011288
|
|
NM_000135.4(FANCA):c.649C>T (p.Leu217Phe)
|
|
|
NM_000135.4(FANCA):c.657A>G (p.Glu219=)
|
rs761287924
|
|
NM_000135.4(FANCA):c.658C>T (p.Gln220Ter)
|
rs775697743
|
|
NM_000135.4(FANCA):c.659A>G (p.Gln220Arg)
|
|
|
NM_000135.4(FANCA):c.660G>A (p.Gln220=)
|
|
|
NM_000135.4(FANCA):c.663G>A (p.Met221Ile)
|
rs1161493688
|
|
NM_000135.4(FANCA):c.664G>A (p.Glu222Lys)
|
rs2040599267
|
|
NM_000135.4(FANCA):c.664G>T (p.Glu222Ter)
|
rs2040599267
|
|
NM_000135.4(FANCA):c.667G>C (p.Ala223Pro)
|
rs771195871
|
|
NM_000135.4(FANCA):c.668C>T (p.Ala223Val)
|
rs749362808
|
|
NM_000135.4(FANCA):c.672C>G (p.Ser224=)
|
rs2040598879
|
|
NM_000135.4(FANCA):c.674G>A (p.Cys225Tyr)
|
|
|
NM_000135.4(FANCA):c.679C>T (p.His227Tyr)
|
|
|
NM_000135.4(FANCA):c.683C>G (p.Ala228Gly)
|
rs1354884515
|
|
NM_000135.4(FANCA):c.690C>A (p.Val230=)
|
rs942275917
|
|
NM_000135.4(FANCA):c.690C>T (p.Val230=)
|
rs942275917
|
|
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr)
|
rs746814384
|
|
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser)
|
rs746814384
|
|
NM_000135.4(FANCA):c.703C>T (p.Leu235Phe)
|
rs1316244239
|
|
NM_000135.4(FANCA):c.709+10T>A
|
rs2040596341
|
|
NM_000135.4(FANCA):c.709+11G>A
|
|
|
NM_000135.4(FANCA):c.709+12A>G
|
|
|
NM_000135.4(FANCA):c.709+13C>G
|
|
|
NM_000135.4(FANCA):c.709+13C>T
|
rs763207362
|
|
NM_000135.4(FANCA):c.709+14A>C
|
|
|
NM_000135.4(FANCA):c.709+14A>G
|
|
|
NM_000135.4(FANCA):c.709+14_709+15del
|
|
|
NM_000135.4(FANCA):c.709+16G>C
|
|
|
NM_000135.4(FANCA):c.709+19G>A
|
|
|
NM_000135.4(FANCA):c.709+1G>A
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+1G>C
|
rs753211631
|
|
NM_000135.4(FANCA):c.709+2T>C
|
rs1555571116
|
|
NM_000135.4(FANCA):c.709+5G>T
|
rs759877008
|
|
NM_000135.4(FANCA):c.709+8C>G
|
rs2143631129
|
|
NM_000135.4(FANCA):c.710-10G>A
|
rs2040524006
|
|
NM_000135.4(FANCA):c.710-11T>C
|
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
NM_000135.4(FANCA):c.710-15T>A
|
|
|
NM_000135.4(FANCA):c.710-16T>A
|
|
|
NM_000135.4(FANCA):c.710-16T>C
|
rs2143616238
|
|
NM_000135.4(FANCA):c.710-1G>A
|
|
|
NM_000135.4(FANCA):c.710-1G>C
|
rs1388128874
|
|
NM_000135.4(FANCA):c.710-1G>T
|
|
|
NM_000135.4(FANCA):c.710-20_710-19del
|
rs2040524550
|
|
NM_000135.4(FANCA):c.710-2A>G
|
rs2040523467
|
|
NM_000135.4(FANCA):c.710-3C>A
|
|
|
NM_000135.4(FANCA):c.710-5T>C
|
rs2040523640
|
|
NM_000135.4(FANCA):c.714dup (p.Val239fs)
|
|
|
NM_000135.4(FANCA):c.715G>A (p.Val239Ile)
|
|
|
NM_000135.4(FANCA):c.715G>C (p.Val239Leu)
|
|
|
NM_000135.4(FANCA):c.718C>G (p.Gln240Glu)
|
rs1184639006
|
|
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)
|
rs1184639006
|
|
NM_000135.4(FANCA):c.731T>A (p.Leu244Ter)
|
rs868620166
|
|
NM_000135.4(FANCA):c.732G>C (p.Leu244Phe)
|
rs2040522671
|
|
NM_000135.4(FANCA):c.735G>C (p.Arg245Ser)
|
|
|
NM_000135.4(FANCA):c.736G>T (p.Gly246Ter)
|
|
|
NM_000135.4(FANCA):c.737del (p.Gly246fs)
|
rs2143615845
|
|
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys)
|
rs760744752
|
|
NM_000135.4(FANCA):c.745A>G (p.Lys249Glu)
|
|
|
NM_000135.4(FANCA):c.752C>G (p.Ser251Ter)
|
rs878853666
|
|
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.757C>T (p.Leu253=)
|
|
|
NM_000135.4(FANCA):c.760A>C (p.Arg254=)
|
rs770552398
|
|
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)
|
rs555210441
|
|
NM_000135.4(FANCA):c.765A>C (p.Arg255Ser)
|
rs1025722534
|
|
NM_000135.4(FANCA):c.765A>G (p.Arg255=)
|
|
|
NM_000135.4(FANCA):c.766A>G (p.Thr256Ala)
|
rs898767175
|
|
NM_000135.4(FANCA):c.767C>A (p.Thr256Asn)
|
rs377078635
|
|
NM_000135.4(FANCA):c.768T>C (p.Thr256=)
|
rs1459779461
|
|
NM_000135.4(FANCA):c.768T>G (p.Thr256=)
|
|
|
NM_000135.4(FANCA):c.769G>T (p.Val257Leu)
|
rs777311234
|
|
NM_000135.4(FANCA):c.770_771del (p.Val257fs)
|
|
|
NM_000135.4(FANCA):c.774G>A (p.Glu258=)
|
|
|
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala)
|
rs200988394
|
|
NM_000135.4(FANCA):c.775C>T (p.Pro259Ser)
|
|
|
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg)
|
rs1598173112
|
|
NM_000135.4(FANCA):c.777T>A (p.Pro259=)
|
|
|
NM_000135.4(FANCA):c.779A>G (p.Glu260Gly)
|
|
|
NM_000135.4(FANCA):c.784del (p.Met262fs)
|
rs2040520715
|
|
NM_000135.4(FANCA):c.788C>T (p.Pro263Leu)
|
|
|
NM_000135.4(FANCA):c.789G>A (p.Pro263=)
|
rs34354932
|
|
NM_000135.4(FANCA):c.789G>T (p.Pro263=)
|
rs34354932
|
|
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
|
rs1353992080
|
|
NM_000135.4(FANCA):c.792+11A>G
|
rs2143615222
|
|
NM_000135.4(FANCA):c.792+13G>A
|
|
|
NM_000135.4(FANCA):c.792+17_792+19del
|
|
|
NM_000135.4(FANCA):c.792+19T>C
|
|
|
NM_000135.4(FANCA):c.792+1G>A
|
rs2143615250
|
|
NM_000135.4(FANCA):c.792+1G>C
|
|
|
NM_000135.4(FANCA):c.792+8G>C
|
rs2143615230
|
|
NM_000135.4(FANCA):c.792G>A (p.Gln264=)
|
rs2040520107
|
|
NM_000135.4(FANCA):c.793-10A>G
|
rs368979136
|
|
NM_000135.4(FANCA):c.793-12C>T
|
rs746312984
|
|
NM_000135.4(FANCA):c.793-16C>G
|
|
|
NM_000135.4(FANCA):c.793-16C>T
|
rs2040372946
|
|
NM_000135.4(FANCA):c.793-16_793-15del
|
|
|
NM_000135.4(FANCA):c.793-18C>A
|
rs776158574
|
|
NM_000135.4(FANCA):c.793-18C>G
|
|
|
NM_000135.4(FANCA):c.793-18C>T
|
rs776158574
|
|
NM_000135.4(FANCA):c.793-1G>C
|
rs1567642367
|
|
NM_000135.4(FANCA):c.793-2A>C
|
rs2040372065
|
|
NM_000135.4(FANCA):c.793-2A>G
|
|
|
NM_000135.4(FANCA):c.793-2A>T
|
|
|
NM_000135.4(FANCA):c.793-5G>A
|
|
|
NM_000135.4(FANCA):c.793-5G>T
|
rs1461529538
|
|
NM_000135.4(FANCA):c.793-6T>C
|
rs1159861002
|
|
NM_000135.4(FANCA):c.795_796inv (p.Thr266Ala)
|
|
|
NM_000135.4(FANCA):c.795_808del (p.Thr266fs)
|
rs2040370883
|
|
NM_000135.4(FANCA):c.796_797delinsGA (p.Thr266Glu)
|
rs2143585439
|
|
NM_000135.4(FANCA):c.798G>A (p.Thr266=)
|
rs767444643
|
|
NM_000135.4(FANCA):c.798G>C (p.Thr266=)
|
|
|
NM_000135.4(FANCA):c.80-10C>A
|
rs771005210
|
|
NM_000135.4(FANCA):c.80-10C>G
|
|
|
NM_000135.4(FANCA):c.80-10C>T
|
rs771005210
|
|
NM_000135.4(FANCA):c.80-13C>G
|
|
|
NM_000135.4(FANCA):c.80-15G>A
|
|
|
NM_000135.4(FANCA):c.80-16C>G
|
|
|
NM_000135.4(FANCA):c.80-16C>T
|
|
|
NM_000135.4(FANCA):c.80-1G>T
|
rs751076878
|
|
NM_000135.4(FANCA):c.80-2A>G
|
|
|
NM_000135.4(FANCA):c.80-4G>A
|
rs747881254
|
|
NM_000135.4(FANCA):c.80-5C>G
|
|
|
NM_000135.4(FANCA):c.80-6C>G
|
rs981258320
|
|
NM_000135.4(FANCA):c.80-8C>G
|
rs749080227
|
|
NM_000135.4(FANCA):c.80-99_105del
|
|
|
NM_000135.4(FANCA):c.800_801dup (p.Asp268fs)
|
rs2143585362
|
|
NM_000135.4(FANCA):c.804T>C (p.Asp268=)
|
|
|
NM_000135.4(FANCA):c.805G>A (p.Val269Ile)
|
rs1555566973
|
|
NM_000135.4(FANCA):c.806_807del (p.Val269fs)
|
|
|
NM_000135.4(FANCA):c.807A>G (p.Val269=)
|
|
|
NM_000135.4(FANCA):c.808C>T (p.Leu270=)
|
|
|
NM_000135.4(FANCA):c.80C>T (p.Ala27Val)
|
|
|
NM_000135.4(FANCA):c.813G>C (p.Gln271His)
|
rs773057753
|
|
NM_000135.4(FANCA):c.814A>T (p.Arg272Ter)
|
|
|
NM_000135.4(FANCA):c.81_82delinsTT (p.Gly28Ter)
|
|
|
NM_000135.4(FANCA):c.820C>T (p.Leu274=)
|
rs2040370137
|
|
NM_000135.4(FANCA):c.825T>A (p.Ile275=)
|
|
|
NM_000135.4(FANCA):c.826+10T>C
|
rs536052530
|
|
NM_000135.4(FANCA):c.826+11T>G
|
|
|
NM_000135.4(FANCA):c.826+14A>G
|
|
|
NM_000135.4(FANCA):c.826+15C>G
|
|
|
NM_000135.4(FANCA):c.826+15C>T
|
|
|
NM_000135.4(FANCA):c.826+17G>A
|
|
|
NM_000135.4(FANCA):c.826+17G>T
|
|
|
NM_000135.4(FANCA):c.826+2T>C
|
rs2143585058
|
|
NM_000135.4(FANCA):c.826+4A>G
|
|
|
NM_000135.4(FANCA):c.826+4del
|
rs2040369776
|
|
NM_000135.4(FANCA):c.826+5_826+9del
|
rs797045570
|
|
NM_000135.4(FANCA):c.826+8A>G
|
rs774666675
|
|
NM_000135.4(FANCA):c.826+9A>G
|
rs2143584994
|
|
NM_000135.4(FANCA):c.826+9A>T
|
rs2143584994
|
|
NM_000135.4(FANCA):c.827-10_827-9del
|
rs1419817251
|
|
NM_000135.4(FANCA):c.827-10dup
|
|
|
NM_000135.4(FANCA):c.827-11T>C
|
|
|
NM_000135.4(FANCA):c.827-11T>G
|
|
|
NM_000135.4(FANCA):c.827-12C>T
|
|
|
NM_000135.4(FANCA):c.827-1G>A
|
|
|
NM_000135.4(FANCA):c.827-1G>C
|
rs753728435
|
|
NM_000135.4(FANCA):c.827-1G>T
|
rs753728435
|
|
NM_000135.4(FANCA):c.827-20G>T
|
|
|
NM_000135.4(FANCA):c.827-2A>G
|
rs2040355782
|
|
NM_000135.4(FANCA):c.827-3C>T
|
|
|
NM_000135.4(FANCA):c.827-4T>G
|
|
|
NM_000135.4(FANCA):c.827-5T>C
|
rs751311949
|
|
NM_000135.4(FANCA):c.827-6C>T
|
rs756991336
|
|
NM_000135.4(FANCA):c.827-7T>G
|
rs370344285
|
|
NM_000135.4(FANCA):c.827-9T>C
|
rs2143581941
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
NM_000135.4(FANCA):c.830C>T (p.Ala277Val)
|
rs35880318
|
|
NM_000135.4(FANCA):c.831_848dup (p.Leu278_Ala283dup)
|
rs761967813
|
|
NM_000135.4(FANCA):c.834T>C (p.Leu278=)
|
|
|
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr)
|
rs1555566625
|
|
NM_000135.4(FANCA):c.837C>A (p.Asp279Glu)
|
rs752311383
|
|
NM_000135.4(FANCA):c.83del (p.Gly28fs)
|
|
|
NM_000135.4(FANCA):c.843G>A (p.Leu281=)
|
|
|
NM_000135.4(FANCA):c.843G>C (p.Leu281Phe)
|
rs2143581630
|
|
NM_000135.4(FANCA):c.844_845delinsTA (p.Ala282Tyr)
|
rs2143581602
|
|
NM_000135.4(FANCA):c.848C>G (p.Ala283Gly)
|
rs770479721
|
|
NM_000135.4(FANCA):c.84_87del (p.Arg29fs)
|
|
|
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala)
|
rs762079136
|
|
NM_000135.4(FANCA):c.851dup (p.Val285fs)
|
rs1369685302
|
|
NM_000135.4(FANCA):c.856C>G (p.Gln286Glu)
|
rs1291524243
|
|
NM_000135.4(FANCA):c.85A>C (p.Arg29=)
|
rs2143724622
|
|
NM_000135.4(FANCA):c.861G>A (p.Glu287=)
|
rs2143581361
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
NM_000135.4(FANCA):c.867C>T (p.Ser289=)
|
rs1463784702
|
|
NM_000135.4(FANCA):c.869C>G (p.Ser290Cys)
|
rs185984960
|
|
NM_000135.4(FANCA):c.869C>T (p.Ser290Phe)
|
rs185984960
|
|
NM_000135.4(FANCA):c.86G>T (p.Arg29Met)
|
rs764561391
|
|
NM_000135.4(FANCA):c.871A>G (p.Thr291Ala)
|
|
|
NM_000135.4(FANCA):c.874C>T (p.His292Tyr)
|
|
|
NM_000135.4(FANCA):c.876C>T (p.His292=)
|
rs527897404
|
|
NM_000135.4(FANCA):c.877A>G (p.Lys293Glu)
|
|
|
NM_000135.4(FANCA):c.881T>C (p.Ile294Thr)
|
rs1555566545
|
|
NM_000135.4(FANCA):c.882C>T (p.Ile294=)
|
rs754520622
|
|
NM_000135.4(FANCA):c.887G>C (p.Arg296Thr)
|
rs878853667
|
|
NM_000135.4(FANCA):c.88G>T (p.Val30Phe)
|
rs1160471115
|
|
NM_000135.4(FANCA):c.88del (p.Val30fs)
|
rs2041101804
|
|
NM_000135.4(FANCA):c.891_893+1del
|
rs2040352874
|
|
NM_000135.4(FANCA):c.892T>C (p.Trp298Arg)
|
rs2040352921
|
|
NM_000135.4(FANCA):c.893+11G>A
|
|
|
NM_000135.4(FANCA):c.893+11G>C
|
|
|
NM_000135.4(FANCA):c.893+11G>T
|
|
|
NM_000135.4(FANCA):c.893+16T>C
|
|
|
NM_000135.4(FANCA):c.893+1G>C
|
|
|
NM_000135.4(FANCA):c.893+1G>T
|
rs2040352832
|
|
NM_000135.4(FANCA):c.893+20C>A
|
|
|
NM_000135.4(FANCA):c.893+4T>C
|
rs2143580838
|
|
NM_000135.4(FANCA):c.893+4T>G
|
rs2143580838
|
|
NM_000135.4(FANCA):c.893+8C>G
|
|
|
NM_000135.4(FANCA):c.893+8C>T
|
|
|
NM_000135.4(FANCA):c.893+920C>A
|
rs1174586234
|
|
NM_000135.4(FANCA):c.894-1137_1359+1837del
|
|
|
NM_000135.4(FANCA):c.894-15C>G
|
|
|
NM_000135.4(FANCA):c.894-16T>A
|
|
|
NM_000135.4(FANCA):c.894-16T>C
|
|
|
NM_000135.4(FANCA):c.894-19C>G
|
|
|
NM_000135.4(FANCA):c.894-19C>T
|
|
|
NM_000135.4(FANCA):c.894-1G>A
|
rs2040234338
|
|
NM_000135.4(FANCA):c.894-3C>G
|
rs2040234388
|
|
NM_000135.4(FANCA):c.894-3C>T
|
rs2040234388
|
|
NM_000135.4(FANCA):c.894-4G>T
|
rs1275962279
|
|
NM_000135.4(FANCA):c.894-8A>C
|
rs11648881
|
|
NM_000135.4(FANCA):c.894G>T (p.Trp298Cys)
|
|
|
NM_000135.4(FANCA):c.894_1006del (p.Trp298Cysfs)
|
|
|
NM_000135.4(FANCA):c.896_897delinsCT (p.Phe299Ser)
|
rs2040234249
|
|
NM_000135.4(FANCA):c.897C>G (p.Phe299Leu)
|
rs765341703
|
|
NM_000135.4(FANCA):c.897del (p.Phe299fs)
|
|
|
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg)
|
rs1467900630
|
|
NM_000135.4(FANCA):c.901G>A (p.Val301Met)
|
rs201134867
|
|
NM_000135.4(FANCA):c.901G>C (p.Val301Leu)
|
|
|
NM_000135.4(FANCA):c.903G>A (p.Val301=)
|
|
|
NM_000135.4(FANCA):c.909T>C (p.Ser303=)
|
rs2143558882
|
|
NM_000135.4(FANCA):c.911G>A (p.Gly304Glu)
|
rs745451374
|
|
NM_000135.4(FANCA):c.915C>T (p.His305=)
|
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000135.4(FANCA):c.916dup (p.Thr306fs)
|
|
|
NM_000135.4(FANCA):c.917C>A (p.Thr306Lys)
|
rs370852532
|
|
NM_000135.4(FANCA):c.917C>G (p.Thr306Arg)
|
rs370852532
|
|
NM_000135.4(FANCA):c.919C>A (p.Leu307Ile)
|
|
|
NM_000135.4(FANCA):c.91A>T (p.Lys31Ter)
|
rs2041101553
|
|
NM_000135.4(FANCA):c.923G>A (p.Gly308Asp)
|
rs1441102361
|
|
NM_000135.4(FANCA):c.924C>A (p.Gly308=)
|
rs143255238
|
|
NM_000135.4(FANCA):c.927T>G (p.Ser309Arg)
|
|
|
NM_000135.4(FANCA):c.930A>G (p.Val310=)
|
|
|
NM_000135.4(FANCA):c.933_936delinsCT (p.Ser312fs)
|
rs2040232900
|
|
NM_000135.4(FANCA):c.93G>A (p.Lys31=)
|
rs759630319
|
|
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn)
|
rs759630319
|
|
NM_000135.4(FANCA):c.943C>A (p.Pro315Thr)
|
|
|
NM_000135.4(FANCA):c.945T>C (p.Pro315=)
|
rs760583815
|
|
NM_000135.4(FANCA):c.948G>A (p.Leu316=)
|
rs767146506
|
|
NM_000135.4(FANCA):c.948G>C (p.Leu316=)
|
|
|
NM_000135.4(FANCA):c.94del (p.Arg32fs)
|
|
|
NM_000135.4(FANCA):c.954G>A (p.Arg318=)
|
|
|
NM_000135.4(FANCA):c.957C>T (p.Phe319=)
|
rs17226068
|
|
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr)
|
rs770984577
|
|
NM_000135.4(FANCA):c.960C>T (p.Phe320=)
|
|
|
NM_000135.4(FANCA):c.961A>G (p.Ser321Gly)
|
|
|
NM_000135.4(FANCA):c.962G>A (p.Ser321Asn)
|
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
NM_000135.4(FANCA):c.970C>T (p.Leu324=)
|
rs1484944856
|
|
NM_000135.4(FANCA):c.971T>C (p.Leu324Pro)
|
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000135.4(FANCA):c.972del (p.Thr325fs)
|
|
|
NM_000135.4(FANCA):c.976C>G (p.Gln326Glu)
|
|
|
NM_000135.4(FANCA):c.978_979del (p.Gln326fs)
|
rs2040231133
|
|
NM_000135.4(FANCA):c.97G>A (p.Glu33Lys)
|
rs2041101017
|
|
NM_000135.4(FANCA):c.97G>T (p.Glu33Ter)
|
|
|
NM_000135.4(FANCA):c.97del (p.Glu33fs)
|
rs786204238
|
|
NM_000135.4(FANCA):c.980T>A (p.Ile327Lys)
|
rs2143558288
|
|
NM_000135.4(FANCA):c.985dup (p.Thr329fs)
|
|
|
NM_000135.4(FANCA):c.986C>T (p.Thr329Ile)
|
rs757617469
|
|
NM_000135.4(FANCA):c.987T>A (p.Thr329=)
|
|
|
NM_000135.4(FANCA):c.987T>C (p.Thr329=)
|
rs1045997042
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000135.4(FANCA):c.988C>G (p.His330Asp)
|
rs753951882
|
|
NM_000135.4(FANCA):c.989_995del (p.His330fs)
|
rs1555564451
|
|
NM_000135.4(FANCA):c.98A>G (p.Glu33Gly)
|
|
|
NM_000135.4(FANCA):c.993C>T (p.Ser331=)
|
|
|
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr)
|
rs1056497675
|
|
NM_000135.4(FANCA):c.994C>T (p.Pro332Ser)
|
|
|
NM_000135.4(FANCA):c.999G>A (p.Val333=)
|
rs1358267888
|
|
NM_000135.4(FANCA):c.999G>C (p.Val333=)
|
rs1358267888
|
|
NM_000135.4(FANCA):c.999G>T (p.Val333=)
|
|
|
NM_000135.4:c.1019_*580del
|
|
|
NM_000135.4:c.1471_2853del
|
|
|
NM_000135.4:c.1626_2602del
|
|
|
NM_000135.4:c.1901_3240del
|
|
|
NM_000135.4:c.284_1627del
|
|
|
NM_000135.4:c.2853_*580del
|
|
|
NM_000135.4:c.710_894del
|
|
|
NM_000135.4:c.874_2982del
|
|
|
NM_000135.4:c.894_2015del
|
|
|
Single allele
|
|
|