NM_018062.4(FANCL):c.981T>C (p.Ser327=)
|
rs848291
|
0.69782
|
NM_018062.4(FANCL):c.375-49C>G
|
rs1404459
|
0.14499
|
NM_018062.4(FANCL):c.217-11T>C
|
rs79588315
|
0.06493
|
NM_018062.4(FANCL):c.1077T>C (p.Cys359=)
|
rs11539575
|
0.01385
|
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala)
|
rs149731356
|
0.00355
|
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)
|
rs55849827
|
0.00322
|
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)
|
rs140088149
|
0.00173
|
NM_018062.4(FANCL):c.817T>C (p.Leu273=)
|
rs61753272
|
0.00156
|
NM_018062.4(FANCL):c.402T>C (p.Ser134=)
|
rs145284589
|
0.00110
|
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)
|
rs143819820
|
0.00061
|
NM_018062.4(FANCL):c.534A>G (p.Thr178=)
|
rs151181785
|
0.00036
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_018062.4(FANCL):c.546C>T (p.Ser182=)
|
rs200679501
|
0.00032
|
NM_018062.4(FANCL):c.155+9G>C
|
rs370392756
|
0.00022
|
NM_018062.4(FANCL):c.142C>G (p.Leu48Val)
|
rs148516173
|
0.00018
|
NM_018062.4(FANCL):c.580A>G (p.Ile194Val)
|
rs542006141
|
0.00018
|
NM_018062.4(FANCL):c.387G>A (p.Ala129=)
|
rs141400460
|
0.00016
|
NM_018062.4(FANCL):c.97-11A>G
|
rs201875132
|
0.00016
|
NM_001114636.1(FANCL):c.-26T>A
|
rs367703311
|
0.00014
|
NM_018062.4(FANCL):c.1021-6T>C
|
rs377052216
|
0.00014
|
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu)
|
rs149726602
|
0.00013
|
NM_001114636.1(FANCL):c.-35C>T
|
rs368688452
|
0.00012
|
NM_018062.4(FANCL):c.1020+15T>C
|
rs201733792
|
0.00011
|
NM_018062.4(FANCL):c.1088G>A (p.Ser363Asn)
|
rs544425912
|
0.00011
|
NM_018062.4(FANCL):c.706A>G (p.Ile236Val)
|
rs762904548
|
0.00011
|
NM_018062.4(FANCL):c.246C>G (p.Ser82Arg)
|
rs374675609
|
0.00010
|
NM_018062.4(FANCL):c.649G>C (p.Glu217Gln)
|
rs142110072
|
0.00010
|
NM_018062.4(FANCL):c.846A>G (p.Gln282=)
|
rs535158133
|
0.00010
|
NM_018062.4(FANCL):c.-3G>C
|
rs766104531
|
0.00009
|
NM_018062.4(FANCL):c.217-4C>A
|
rs369048526
|
0.00009
|
NM_018062.4(FANCL):c.238C>G (p.Leu80Val)
|
rs563513081
|
0.00008
|
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
|
rs779544327
|
0.00007
|
NM_018062.4(FANCL):c.273+7A>C
|
rs745366278
|
0.00006
|
NM_018062.4(FANCL):c.288G>T (p.Lys96Asn)
|
rs770368316
|
0.00006
|
NM_018062.4(FANCL):c.335C>T (p.Ser112Leu)
|
rs756590256
|
0.00006
|
NM_018062.4(FANCL):c.471+9C>G
|
rs376716140
|
0.00006
|
NM_018062.4(FANCL):c.4G>T (p.Ala2Ser)
|
rs144057264
|
0.00006
|
NM_018062.4(FANCL):c.661C>T (p.Arg221Trp)
|
rs772025061
|
0.00006
|
NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs)
|
rs750871999
|
0.00005
|
NM_018062.4(FANCL):c.261G>A (p.Leu87=)
|
rs1049409962
|
0.00005
|
NM_018062.4(FANCL):c.343A>G (p.Ile115Val)
|
rs149414332
|
0.00005
|
NM_018062.4(FANCL):c.374+18_374+29del
|
rs775890254
|
0.00005
|
NM_018062.4(FANCL):c.1050G>T (p.Gln350His)
|
rs760542163
|
0.00004
|
NM_018062.4(FANCL):c.1052G>A (p.Ser351Asn)
|
rs145260146
|
0.00004
|
NM_018062.4(FANCL):c.155+7T>C
|
rs200849840
|
0.00004
|
NM_018062.4(FANCL):c.208G>A (p.Val70Ile)
|
rs758754024
|
0.00004
|
NM_018062.4(FANCL):c.375-15T>C
|
rs767038810
|
0.00004
|
NM_018062.4(FANCL):c.392C>T (p.Thr131Ile)
|
rs371154063
|
0.00004
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
0.00004
|
NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp)
|
rs201084086
|
0.00004
|
NM_018062.4(FANCL):c.622G>A (p.Asp208Asn)
|
rs199564543
|
0.00004
|
NM_018062.4(FANCL):c.739A>G (p.Met247Val)
|
rs561027973
|
0.00004
|
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys)
|
rs139801716
|
0.00004
|
NM_018062.4(FANCL):c.317C>T (p.Pro106Leu)
|
rs771772034
|
0.00003
|
NM_018062.4(FANCL):c.374+13T>C
|
rs776463455
|
0.00003
|
NM_018062.4(FANCL):c.375-13C>T
|
rs761490451
|
0.00003
|
NM_018062.4(FANCL):c.375-6C>T
|
rs773848254
|
0.00003
|
NM_018062.4(FANCL):c.471+12G>A
|
rs369756342
|
0.00003
|
NM_018062.4(FANCL):c.822-13C>T
|
rs756047554
|
0.00003
|
NM_018062.4(FANCL):c.883C>T (p.Arg295Cys)
|
rs376528147
|
0.00003
|
NM_018062.4(FANCL):c.948C>T (p.Asp316=)
|
rs1409256364
|
0.00003
|
NM_001114636.1(FANCL):c.-13C>T
|
rs757714548
|
0.00002
|
NM_018062.4(FANCL):c.1024C>G (p.Leu342Val)
|
rs140758986
|
0.00002
|
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)
|
rs577063114
|
0.00002
|
NM_018062.4(FANCL):c.375-14C>G
|
rs1361463338
|
0.00002
|
NM_018062.4(FANCL):c.428C>T (p.Ala143Val)
|
rs756000370
|
0.00002
|
NM_018062.4(FANCL):c.500T>C (p.Val167Ala)
|
rs1338440311
|
0.00002
|
NM_018062.4(FANCL):c.641T>C (p.Leu214Pro)
|
rs766618785
|
0.00002
|
NM_018062.4(FANCL):c.677G>A (p.Arg226His)
|
rs745526326
|
0.00002
|
NM_018062.4(FANCL):c.775+13A>C
|
rs764413990
|
0.00002
|
NM_018062.4(FANCL):c.810C>A (p.Asn270Lys)
|
rs750050199
|
0.00002
|
NM_018062.4(FANCL):c.969G>A (p.Val323=)
|
rs200819615
|
0.00002
|
NM_018062.4(FANCL):c.1033C>T (p.Leu345=)
|
rs929280865
|
0.00001
|
NM_018062.4(FANCL):c.1065A>G (p.Ile355Met)
|
rs147860433
|
0.00001
|
NM_018062.4(FANCL):c.1067T>G (p.Phe356Cys)
|
rs773869051
|
0.00001
|
NM_018062.4(FANCL):c.1092+18C>A
|
rs373854636
|
0.00001
|
NM_018062.4(FANCL):c.1092+8A>G
|
rs1337458150
|
0.00001
|
NM_018062.4(FANCL):c.117G>A (p.Arg39=)
|
rs774840155
|
0.00001
|
NM_018062.4(FANCL):c.121G>T (p.Val41Leu)
|
rs763523035
|
0.00001
|
NM_018062.4(FANCL):c.129T>G (p.Pro43=)
|
rs746046267
|
0.00001
|
NM_018062.4(FANCL):c.155+4A>G
|
rs1264877990
|
0.00001
|
NM_018062.4(FANCL):c.173A>G (p.Gln58Arg)
|
rs1363031365
|
0.00001
|
NM_018062.4(FANCL):c.182C>G (p.Thr61Arg)
|
rs1315405264
|
0.00001
|
NM_018062.4(FANCL):c.18G>C (p.Ala6=)
|
rs759021953
|
0.00001
|
NM_018062.4(FANCL):c.197A>G (p.Tyr66Cys)
|
rs200306031
|
0.00001
|
NM_018062.4(FANCL):c.1A>T (p.Met1Leu)
|
rs772037896
|
0.00001
|
NM_018062.4(FANCL):c.216+1G>T
|
rs1205006300
|
0.00001
|
NM_018062.4(FANCL):c.273+1G>C
|
rs144729980
|
0.00001
|
NM_018062.4(FANCL):c.28C>G (p.Arg10Gly)
|
rs146690827
|
0.00001
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
NM_018062.4(FANCL):c.308C>A (p.Ala103Glu)
|
rs746623168
|
0.00001
|
NM_018062.4(FANCL):c.319C>T (p.Pro107Ser)
|
rs754028115
|
0.00001
|
NM_018062.4(FANCL):c.332A>G (p.Tyr111Cys)
|
rs757683704
|
0.00001
|
NM_018062.4(FANCL):c.344T>C (p.Ile115Thr)
|
rs1060501895
|
0.00001
|
NM_018062.4(FANCL):c.354A>G (p.Ile118Met)
|
rs1371125510
|
0.00001
|
NM_018062.4(FANCL):c.355G>A (p.Gly119Arg)
|
rs764393410
|
0.00001
|
NM_018062.4(FANCL):c.36C>T (p.Cys12=)
|
rs756487177
|
0.00001
|
NM_018062.4(FANCL):c.372T>A (p.Asp124Glu)
|
rs1032497636
|
0.00001
|
NM_018062.4(FANCL):c.381G>T (p.Val127=)
|
rs1198509820
|
0.00001
|
NM_018062.4(FANCL):c.386C>T (p.Ala129Val)
|
rs771495568
|
0.00001
|
NM_018062.4(FANCL):c.394T>C (p.Cys132Arg)
|
rs748298862
|
0.00001
|
NM_018062.4(FANCL):c.39C>T (p.Pro13=)
|
rs201708705
|
0.00001
|
NM_018062.4(FANCL):c.401G>T (p.Ser134Ile)
|
rs377429618
|
0.00001
|
NM_018062.4(FANCL):c.436A>G (p.Arg146Gly)
|
rs369876807
|
0.00001
|
NM_018062.4(FANCL):c.44T>C (p.Leu15Pro)
|
rs1694519859
|
0.00001
|
NM_018062.4(FANCL):c.471+11C>T
|
rs373493158
|
0.00001
|
NM_018062.4(FANCL):c.472T>G (p.Tyr158Asp)
|
rs749411866
|
0.00001
|
NM_018062.4(FANCL):c.488C>G (p.Pro163Arg)
|
rs770063294
|
0.00001
|
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg)
|
rs773768206
|
0.00001
|
NM_018062.4(FANCL):c.525C>T (p.Ala175=)
|
rs757892335
|
0.00001
|
NM_018062.4(FANCL):c.541-3C>T
|
rs759711454
|
0.00001
|
NM_018062.4(FANCL):c.554G>C (p.Ser185Thr)
|
rs560205327
|
0.00001
|
NM_018062.4(FANCL):c.565C>T (p.Gln189Ter)
|
rs1191111879
|
0.00001
|
NM_018062.4(FANCL):c.588A>T (p.Ser196=)
|
rs1205526780
|
0.00001
|
NM_018062.4(FANCL):c.589C>T (p.Leu197=)
|
rs779745877
|
0.00001
|
NM_018062.4(FANCL):c.598T>A (p.Phe200Ile)
|
rs199660431
|
0.00001
|
NM_018062.4(FANCL):c.611T>C (p.Met204Thr)
|
rs368900762
|
0.00001
|
NM_018062.4(FANCL):c.621C>T (p.Ile207=)
|
rs374195602
|
0.00001
|
NM_018062.4(FANCL):c.640C>T (p.Leu214Phe)
|
rs765926796
|
0.00001
|
NM_018062.4(FANCL):c.662G>A (p.Arg221Gln)
|
rs761742545
|
0.00001
|
NM_018062.4(FANCL):c.679A>G (p.Arg227Gly)
|
rs778068203
|
0.00001
|
NM_018062.4(FANCL):c.691+3A>G
|
rs1159902512
|
0.00001
|
NM_018062.4(FANCL):c.692-17A>G
|
rs1281803537
|
0.00001
|
NM_018062.4(FANCL):c.692-2A>G
|
rs1558737575
|
0.00001
|
NM_018062.4(FANCL):c.692G>A (p.Gly231Asp)
|
rs1558737546
|
0.00001
|
NM_018062.4(FANCL):c.6G>A (p.Ala2=)
|
rs781559042
|
0.00001
|
NM_018062.4(FANCL):c.742C>T (p.Leu248Phe)
|
rs1202806362
|
0.00001
|
NM_018062.4(FANCL):c.750G>A (p.Glu250=)
|
rs1337676826
|
0.00001
|
NM_018062.4(FANCL):c.775+3A>T
|
rs975755966
|
0.00001
|
NM_018062.4(FANCL):c.804C>T (p.Ser268=)
|
rs1327227877
|
0.00001
|
NM_018062.4(FANCL):c.822-15T>C
|
rs1282819073
|
0.00001
|
NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr)
|
rs1685420223
|
0.00001
|
NM_018062.4(FANCL):c.860T>G (p.Val287Gly)
|
rs61757387
|
0.00001
|
NM_018062.4(FANCL):c.879A>T (p.Pro293=)
|
rs1217731968
|
0.00001
|
NM_018062.4(FANCL):c.881C>T (p.Ala294Val)
|
rs756695293
|
0.00001
|
NM_018062.4(FANCL):c.884G>A (p.Arg295His)
|
rs375526911
|
0.00001
|
NM_018062.4(FANCL):c.894G>T (p.Leu298=)
|
rs373364584
|
0.00001
|
NM_018062.4(FANCL):c.903+10A>G
|
rs779834767
|
0.00001
|
NM_018062.4(FANCL):c.918T>C (p.Asp306=)
|
rs1060504376
|
0.00001
|
NM_018062.4(FANCL):c.96+10C>T
|
rs184741617
|
0.00001
|
NM_018062.4(FANCL):c.96+3A>T
|
rs764782273
|
0.00001
|
NM_018062.4(FANCL):c.992A>C (p.Gln331Pro)
|
rs746967598
|
0.00001
|
NM_018062.4(FANCL):c.993A>G (p.Gln331=)
|
rs777378352
|
0.00001
|
NC_000002.11:g.(?_58425719)_(58433394_?)del
|
|
|
NC_000002.11:g.(?_58431245)_(58433394_?)del
|
|
|
NC_000002.11:g.(?_58431245)_(58468448_?)del
|
|
|
NC_000002.11:g.(?_58449057)_(58453929_?)del
|
|
|
NC_000002.11:g.(?_58449057)_(58468448_?)del
|
|
|
NC_000002.11:g.(?_58456939)_(58457019_?)del
|
|
|
NC_000002.11:g.(?_58459169)_(58468448_?)del
|
|
|
NC_000002.11:g.(?_58468333)_(58468448_?)del
|
|
|
NC_000002.12:g.58229869_58229884AAT[2]CTAAAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAATAATCTAAAATTTT[1]
|
|
|
NC_000002.12:g.58232113del
|
|
|
NM_001114636.1(FANCL):c.-34T>C
|
rs374960980
|
|
NM_001114636.1(FANCL):c.-39A>C
|
rs41281511
|
|
NM_001114636.1(FANCL):c.-39A>G
|
rs41281511
|
|
NM_001114636.1(FANCL):c.-40C>A
|
rs199661008
|
|
NM_001114636.1(FANCL):c.-44C>T
|
rs780348127
|
|
NM_018062.3(FANCL):c.822-15_822-9delins177
|
|
|
NM_018062.4(FANCL):c.1005A>G (p.Gln335=)
|
rs1158938280
|
|
NM_018062.4(FANCL):c.1007del (p.Ile336fs)
|
|
|
NM_018062.4(FANCL):c.1014A>G (p.Leu338=)
|
|
|
NM_018062.4(FANCL):c.1017T>C (p.Tyr339=)
|
|
|
NM_018062.4(FANCL):c.1017_1018insA (p.Glu340fs)
|
|
|
NM_018062.4(FANCL):c.1020+14A>G
|
|
|
NM_018062.4(FANCL):c.1020+14del
|
|
|
NM_018062.4(FANCL):c.1020+17T>C
|
|
|
NM_018062.4(FANCL):c.1020+18T>C
|
|
|
NM_018062.4(FANCL):c.1020+20T>G
|
|
|
NM_018062.4(FANCL):c.1020+8dup
|
|
|
NM_018062.4(FANCL):c.1020+9_1020+11del
|
|
|
NM_018062.4(FANCL):c.1021-16C>G
|
|
|
NM_018062.4(FANCL):c.1021-18A>C
|
|
|
NM_018062.4(FANCL):c.1021-18_1021-14dup
|
|
|
NM_018062.4(FANCL):c.1021-18_1021-15dup
|
|
|
NM_018062.4(FANCL):c.1021-22_1021-20del
|
|
|
NM_018062.4(FANCL):c.1021-23_1021-15del
|
|
|
NM_018062.4(FANCL):c.1021-2A>G
|
|
|
NM_018062.4(FANCL):c.1021-7T>C
|
|
|
NM_018062.4(FANCL):c.1021T>A (p.Trp341Arg)
|
rs1558727863
|
|
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
|
|
|
NM_018062.4(FANCL):c.1029dup (p.Gly344fs)
|
|
|
NM_018062.4(FANCL):c.102A>G (p.Arg34=)
|
rs759217429
|
|
NM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del)
|
|
|
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
|
|
|
NM_018062.4(FANCL):c.1042A>G (p.Ser348Gly)
|
|
|
NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)
|
|
|
NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs)
|
rs1553433429
|
|
NM_018062.4(FANCL):c.1049dup (p.Ser351fs)
|
|
|
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)
|
rs750871999
|
|
NM_018062.4(FANCL):c.105C>A (p.Asp35Glu)
|
|
|
NM_018062.4(FANCL):c.105C>T (p.Asp35=)
|
|
|
NM_018062.4(FANCL):c.1060A>G (p.Ile354Val)
|
|
|
NM_018062.4(FANCL):c.1064dup (p.Phe356fs)
|
|
|
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
|
|
|
NM_018062.4(FANCL):c.1078C>A (p.Pro360Thr)
|
rs748875030
|
|
NM_018062.4(FANCL):c.1078C>G (p.Pro360Ala)
|
rs748875030
|
|
NM_018062.4(FANCL):c.1080A>G (p.Pro360=)
|
|
|
NM_018062.4(FANCL):c.1092+14T>G
|
|
|
NM_018062.4(FANCL):c.1092+15A>G
|
|
|
NM_018062.4(FANCL):c.1092+17T>C
|
|
|
NM_018062.4(FANCL):c.1092+18C>G
|
|
|
NM_018062.4(FANCL):c.1092+1G>C
|
|
|
NM_018062.4(FANCL):c.1092+1G>T
|
|
|
NM_018062.4(FANCL):c.1092+1_1092+5del
|
rs1558727300
|
|
NM_018062.4(FANCL):c.121G>A (p.Val41Met)
|
|
|
NM_018062.4(FANCL):c.129T>C (p.Pro43=)
|
|
|
NM_018062.4(FANCL):c.12G>C (p.Thr4=)
|
|
|
NM_018062.4(FANCL):c.134A>T (p.Asp45Val)
|
rs1573820532
|
|
NM_018062.4(FANCL):c.136T>A (p.Leu46Ile)
|
rs781357185
|
|
NM_018062.4(FANCL):c.136T>G (p.Leu46Val)
|
|
|
NM_018062.4(FANCL):c.138A>G (p.Leu46=)
|
|
|
NM_018062.4(FANCL):c.13del (p.Glu5fs)
|
|
|
NM_018062.4(FANCL):c.141A>G (p.Gln47=)
|
|
|
NM_018062.4(FANCL):c.147G>A (p.Lys49=)
|
|
|
NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr)
|
rs1558825558
|
|
NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)
|
|
|
NM_018062.4(FANCL):c.150T>C (p.Asn50=)
|
|
|
NM_018062.4(FANCL):c.153A>G (p.Ala51=)
|
rs2103919517
|
|
NM_018062.4(FANCL):c.155+18T>A
|
rs1573820307
|
|
NM_018062.4(FANCL):c.155+19A>T
|
|
|
NM_018062.4(FANCL):c.155+8G>A
|
|
|
NM_018062.4(FANCL):c.155G>A (p.Arg52Lys)
|
rs1693636944
|
|
NM_018062.4(FANCL):c.156-11T>A
|
|
|
NM_018062.4(FANCL):c.156-11T>C
|
|
|
NM_018062.4(FANCL):c.156-12T>C
|
|
|
NM_018062.4(FANCL):c.156-13A>C
|
|
|
NM_018062.4(FANCL):c.156-13A>T
|
|
|
NM_018062.4(FANCL):c.156-14C>T
|
|
|
NM_018062.4(FANCL):c.156-15T>C
|
rs2103886212
|
|
NM_018062.4(FANCL):c.156-16C>T
|
|
|
NM_018062.4(FANCL):c.156-3T>G
|
|
|
NM_018062.4(FANCL):c.156-8A>C
|
rs878855045
|
|
NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)
|
|
|
NM_018062.4(FANCL):c.159A>C (p.Leu53Phe)
|
|
|
NM_018062.4(FANCL):c.163T>A (p.Cys55Ser)
|
|
|
NM_018062.4(FANCL):c.167G>C (p.Ser56Thr)
|
rs778972805
|
|
NM_018062.4(FANCL):c.181A>G (p.Thr61Ala)
|
|
|
NM_018062.4(FANCL):c.191G>A (p.Ser64Asn)
|
rs1693400339
|
|
NM_018062.4(FANCL):c.1A>C (p.Met1Leu)
|
|
|
NM_018062.4(FANCL):c.1A>G (p.Met1Val)
|
rs772037896
|
|
NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)
|
|
|
NM_018062.4(FANCL):c.200A>G (p.His67Arg)
|
|
|
NM_018062.4(FANCL):c.202C>A (p.Arg68=)
|
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
NM_018062.4(FANCL):c.203G>A (p.Arg68Gln)
|
rs143819820
|
|
NM_018062.4(FANCL):c.20G>A (p.Ser7Asn)
|
rs376224867
|
|
NM_018062.4(FANCL):c.20G>C (p.Ser7Thr)
|
rs376224867
|
|
NM_018062.4(FANCL):c.20G>T (p.Ser7Ile)
|
rs376224867
|
|
NM_018062.4(FANCL):c.210A>G (p.Val70=)
|
|
|
NM_018062.4(FANCL):c.211C>T (p.Gln71Ter)
|
rs753105795
|
|
NM_018062.4(FANCL):c.213A>G (p.Gln71=)
|
|
|
NM_018062.4(FANCL):c.216+13del
|
rs1558823075
|
|
NM_018062.4(FANCL):c.216+14A>G
|
|
|
NM_018062.4(FANCL):c.216+17A>G
|
|
|
NM_018062.4(FANCL):c.216+7C>G
|
|
|
NM_018062.4(FANCL):c.216+8C>G
|
|
|
NM_018062.4(FANCL):c.216+9T>C
|
|
|
NM_018062.4(FANCL):c.217-2A>G
|
|
|
NM_018062.4(FANCL):c.21C>G (p.Ser7Arg)
|
rs200559825
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
NM_018062.4(FANCL):c.224A>G (p.Gln75Arg)
|
rs754363760
|
|
NM_018062.4(FANCL):c.226C>T (p.His76Tyr)
|
rs1693047999
|
|
NM_018062.4(FANCL):c.229T>C (p.Ser77Pro)
|
|
|
NM_018062.4(FANCL):c.22C>A (p.Leu8Met)
|
rs764378405
|
|
NM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer)
|
|
|
NM_018062.4(FANCL):c.233C>G (p.Pro78Arg)
|
|
|
NM_018062.4(FANCL):c.234T>C (p.Pro78=)
|
|
|
NM_018062.4(FANCL):c.235del (p.Asp79fs)
|
|
|
NM_018062.4(FANCL):c.240A>C (p.Leu80=)
|
|
|
NM_018062.4(FANCL):c.241A>G (p.Met81Val)
|
rs1440897827
|
|
NM_018062.4(FANCL):c.244A>C (p.Ser82Arg)
|
|
|
NM_018062.4(FANCL):c.24G>A (p.Leu8=)
|
|
|
NM_018062.4(FANCL):c.24G>T (p.Leu8=)
|
|
|
NM_018062.4(FANCL):c.252G>A (p.Met84Ile)
|
|
|
NM_018062.4(FANCL):c.259T>A (p.Leu87Met)
|
|
|
NM_018062.4(FANCL):c.267G>T (p.Met89Ile)
|
rs1378650753
|
|
NM_018062.4(FANCL):c.268del (p.Leu90fs)
|
rs869320684
|
|
NM_018062.4(FANCL):c.273+19dup
|
rs372101290
|
|
NM_018062.4(FANCL):c.273+1G>A
|
rs144729980
|
|
NM_018062.4(FANCL):c.273+7A>T
|
|
|
NM_018062.4(FANCL):c.273+7dup
|
|
|
NM_018062.4(FANCL):c.274-11_274-9del
|
rs766344718
|
|
NM_018062.4(FANCL):c.274-14C>G
|
|
|
NM_018062.4(FANCL):c.274-19G>A
|
|
|
NM_018062.4(FANCL):c.274G>A (p.Glu92Lys)
|
rs2103754665
|
|
NM_018062.4(FANCL):c.276A>G (p.Glu92=)
|
|
|
NM_018062.4(FANCL):c.27G>A (p.Leu9=)
|
|
|
NM_018062.4(FANCL):c.27G>C (p.Leu9Phe)
|
rs370409722
|
|
NM_018062.4(FANCL):c.27G>T (p.Leu9Phe)
|
|
|
NM_018062.4(FANCL):c.280_281delinsTT (p.Ala94Phe)
|
|
|
NM_018062.4(FANCL):c.282C>T (p.Ala94=)
|
|
|
NM_018062.4(FANCL):c.287A>G (p.Lys96Arg)
|
|
|
NM_018062.4(FANCL):c.28del (p.Arg10fs)
|
|
|
NM_018062.4(FANCL):c.291T>C (p.Asn97=)
|
|
|
NM_018062.4(FANCL):c.295C>A (p.Gln99Lys)
|
rs1196510455
|
|
NM_018062.4(FANCL):c.295C>T (p.Gln99Ter)
|
rs1196510455
|
|
NM_018062.4(FANCL):c.2T>G (p.Met1Arg)
|
rs761291501
|
|
NM_018062.4(FANCL):c.308C>T (p.Ala103Val)
|
rs746623168
|
|
NM_018062.4(FANCL):c.309A>G (p.Ala103=)
|
|
|
NM_018062.4(FANCL):c.30C>T (p.Arg10=)
|
|
|
NM_018062.4(FANCL):c.310C>T (p.Leu104=)
|
rs1225517747
|
|
NM_018062.4(FANCL):c.312A>G (p.Leu104=)
|
|
|
NM_018062.4(FANCL):c.318T>C (p.Pro106=)
|
|
|
NM_018062.4(FANCL):c.319C>G (p.Pro107Ala)
|
rs754028115
|
|
NM_018062.4(FANCL):c.31C>T (p.Gln11Ter)
|
|
|
NM_018062.4(FANCL):c.320del (p.Pro107fs)
|
|
|
NM_018062.4(FANCL):c.324C>G (p.Pro108=)
|
|
|
NM_018062.4(FANCL):c.325C>T (p.Gln109Ter)
|
|
|
NM_018062.4(FANCL):c.328_335dup (p.Leu114fs)
|
|
|
NM_018062.4(FANCL):c.330C>T (p.Phe110=)
|
|
|
NM_018062.4(FANCL):c.333C>T (p.Tyr111=)
|
|
|
NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)
|
|
|
NM_018062.4(FANCL):c.336A>G (p.Ser112=)
|
|
|
NM_018062.4(FANCL):c.339C>A (p.Ser113Arg)
|
rs2103752897
|
|
NM_018062.4(FANCL):c.345T>A (p.Ile115=)
|
|
|
NM_018062.4(FANCL):c.350A>C (p.Glu117Ala)
|
rs2103752683
|
|
NM_018062.4(FANCL):c.35G>A (p.Cys12Tyr)
|
rs2104082854
|
|
NM_018062.4(FANCL):c.35G>C (p.Cys12Ser)
|
|
|
NM_018062.4(FANCL):c.361C>T (p.Leu121Phe)
|
|
|
NM_018062.4(FANCL):c.363T>C (p.Leu121=)
|
|
|
NM_018062.4(FANCL):c.365G>T (p.Gly122Val)
|
rs2103752402
|
|
NM_018062.4(FANCL):c.369G>A (p.Trp123Ter)
|
|
|
NM_018062.4(FANCL):c.36C>A (p.Cys12Ter)
|
rs756487177
|
|
NM_018062.4(FANCL):c.374+13T>G
|
|
|
NM_018062.4(FANCL):c.374+16_374+20del
|
|
|
NM_018062.4(FANCL):c.374+19_374+20del
|
rs1692517175
|
|
NM_018062.4(FANCL):c.374+20T>A
|
|
|
NM_018062.4(FANCL):c.374+3A>G
|
rs999309828
|
|
NM_018062.4(FANCL):c.374+7C>T
|
|
|
NM_018062.4(FANCL):c.375-11C>T
|
|
|
NM_018062.4(FANCL):c.375-13_375-11del
|
rs759671554
|
|
NM_018062.4(FANCL):c.375-14C>T
|
|
|
NM_018062.4(FANCL):c.375-16C>T
|
|
|
NM_018062.4(FANCL):c.375-17T>G
|
|
|
NM_018062.4(FANCL):c.375-19A>C
|
|
|
NM_018062.4(FANCL):c.375-2033C>G
|
rs1690571577
|
|
NM_018062.4(FANCL):c.375-2033C>T
|
|
|
NM_018062.4(FANCL):c.375-20T>A
|
|
|
NM_018062.4(FANCL):c.375-5A>T
|
rs2105148555
|
|
NM_018062.4(FANCL):c.378T>A (p.Leu126=)
|
rs746200741
|
|
NM_018062.4(FANCL):c.378del (p.Val127fs)
|
|
|
NM_018062.4(FANCL):c.384T>C (p.Tyr128=)
|
rs1245585990
|
|
NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)
|
|
|
NM_018062.4(FANCL):c.385G>T (p.Ala129Ser)
|
|
|
NM_018062.4(FANCL):c.385_397del (p.Ala129fs)
|
rs2105148069
|
|
NM_018062.4(FANCL):c.388G>T (p.Asp130Tyr)
|
rs1690340999
|
|
NM_018062.4(FANCL):c.390T>C (p.Asp130=)
|
|
|
NM_018062.4(FANCL):c.39C>A (p.Pro13=)
|
rs201708705
|
|
NM_018062.4(FANCL):c.39C>G (p.Pro13=)
|
rs201708705
|
|
NM_018062.4(FANCL):c.3G>A (p.Met1Ile)
|
rs1694527909
|
|
NM_018062.4(FANCL):c.405C>G (p.Thr135=)
|
|
|
NM_018062.4(FANCL):c.408C>G (p.Ile136Met)
|
rs1389670408
|
|
NM_018062.4(FANCL):c.40del (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.40dup (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.417A>G (p.Lys139=)
|
rs1690337979
|
|
NM_018062.4(FANCL):c.420A>G (p.Ala140=)
|
rs1573699668
|
|
NM_018062.4(FANCL):c.426_438del (p.Asp142fs)
|
rs878855046
|
|
NM_018062.4(FANCL):c.428C>G (p.Ala143Gly)
|
rs756000370
|
|
NM_018062.4(FANCL):c.429T>C (p.Ala143=)
|
|
|
NM_018062.4(FANCL):c.430T>A (p.Ser144Thr)
|
rs2105147558
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
NM_018062.4(FANCL):c.435T>G (p.Gly145=)
|
rs2105147481
|
|
NM_018062.4(FANCL):c.439G>A (p.Glu147Lys)
|
|
|
NM_018062.4(FANCL):c.442del (p.His148fs)
|
|
|
NM_018062.4(FANCL):c.44T>A (p.Leu15His)
|
rs1694519859
|
|
NM_018062.4(FANCL):c.450C>A (p.Ile150=)
|
|
|
NM_018062.4(FANCL):c.454C>T (p.Leu152Phe)
|
|
|
NM_018062.4(FANCL):c.455_456del (p.Leu152fs)
|
|
|
NM_018062.4(FANCL):c.456C>G (p.Leu152=)
|
|
|
NM_018062.4(FANCL):c.46C>A (p.Leu16Met)
|
|
|
NM_018062.4(FANCL):c.46C>T (p.Leu16=)
|
|
|
NM_018062.4(FANCL):c.471+13T>C
|
|
|
NM_018062.4(FANCL):c.471+16A>G
|
rs1026741275
|
|
NM_018062.4(FANCL):c.471+1G>A
|
|
|
NM_018062.4(FANCL):c.471+2T>C
|
|
|
NM_018062.4(FANCL):c.472-11T>C
|
|
|
NM_018062.4(FANCL):c.472-14T>C
|
rs371196539
|
|
NM_018062.4(FANCL):c.472-15A>G
|
rs374750427
|
|
NM_018062.4(FANCL):c.472-15A>T
|
rs374750427
|
|
NM_018062.4(FANCL):c.472-18G>A
|
|
|
NM_018062.4(FANCL):c.472-5A>G
|
|
|
NM_018062.4(FANCL):c.472-6T>A
|
|
|
NM_018062.4(FANCL):c.472del (p.Tyr158fs)
|
|
|
NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter)
|
rs1689679880
|
|
NM_018062.4(FANCL):c.476C>T (p.Pro159Leu)
|
|
|
NM_018062.4(FANCL):c.478G>A (p.Ala160Thr)
|
rs2105101201
|
|
NM_018062.4(FANCL):c.47T>G (p.Leu16Arg)
|
|
|
NM_018062.4(FANCL):c.480A>G (p.Ala160=)
|
|
|
NM_018062.4(FANCL):c.494A>G (p.Tyr165Cys)
|
rs2105100994
|
|
NM_018062.4(FANCL):c.4G>A (p.Ala2Thr)
|
|
|
NM_018062.4(FANCL):c.507T>C (p.Phe169=)
|
rs1423808735
|
|
NM_018062.4(FANCL):c.513T>C (p.Val171=)
|
|
|
NM_018062.4(FANCL):c.51C>G (p.Pro17=)
|
rs772700022
|
|
NM_018062.4(FANCL):c.51C>T (p.Pro17=)
|
|
|
NM_018062.4(FANCL):c.524C>T (p.Ala175Val)
|
rs199966372
|
|
NM_018062.4(FANCL):c.526T>G (p.Ser176Ala)
|
|
|
NM_018062.4(FANCL):c.528C>G (p.Ser176=)
|
|
|
NM_018062.4(FANCL):c.528C>T (p.Ser176=)
|
rs764969578
|
|
NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)
|
rs1689674094
|
|
NM_018062.4(FANCL):c.540+10_540+24del
|
rs770182004
|
|
NM_018062.4(FANCL):c.540+13C>T
|
rs1442784677
|
|
NM_018062.4(FANCL):c.540+16G>T
|
|
|
NM_018062.4(FANCL):c.540+18A>G
|
|
|
NM_018062.4(FANCL):c.541-10T>G
|
|
|
NM_018062.4(FANCL):c.541-11T>A
|
rs1458588728
|
|
NM_018062.4(FANCL):c.541-14C>A
|
rs765321485
|
|
NM_018062.4(FANCL):c.541-14C>T
|
|
|
NM_018062.4(FANCL):c.541-15T>C
|
rs1685890518
|
|
NM_018062.4(FANCL):c.541-15T>G
|
|
|
NM_018062.4(FANCL):c.541-18C>G
|
|
|
NM_018062.4(FANCL):c.541-2A>C
|
|
|
NM_018062.4(FANCL):c.541-4A>G
|
|
|
NM_018062.4(FANCL):c.541-5C>T
|
|
|
NM_018062.4(FANCL):c.541-5del
|
rs1293206231
|
|
NM_018062.4(FANCL):c.541-6dup
|
rs746526500
|
|
NM_018062.4(FANCL):c.543C>T (p.Ser181=)
|
|
|
NM_018062.4(FANCL):c.548T>A (p.Leu183Ter)
|
|
|
NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del)
|
rs1573532439
|
|
NM_018062.4(FANCL):c.550A>G (p.Ile184Val)
|
rs2104818711
|
|
NM_018062.4(FANCL):c.556A>G (p.Ile186Val)
|
rs1685886480
|
|
NM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer)
|
|
|
NM_018062.4(FANCL):c.561T>C (p.Tyr187=)
|
rs1185627493
|
|
NM_018062.4(FANCL):c.563G>C (p.Ser188Thr)
|
|
|
NM_018062.4(FANCL):c.56A>G (p.Asn19Ser)
|
|
|
NM_018062.4(FANCL):c.578C>T (p.Ala193Val)
|
rs2104818267
|
|
NM_018062.4(FANCL):c.57C>G (p.Asn19Lys)
|
rs1694517921
|
|
NM_018062.4(FANCL):c.57C>T (p.Asn19=)
|
|
|
NM_018062.4(FANCL):c.590del (p.Leu197fs)
|
|
|
NM_018062.4(FANCL):c.591A>G (p.Leu197=)
|
rs1320380833
|
|
NM_018062.4(FANCL):c.594G>C (p.Lys198Asn)
|
|
|
NM_018062.4(FANCL):c.5C>T (p.Ala2Val)
|
rs551142193
|
|
NM_018062.4(FANCL):c.608T>C (p.Val203Ala)
|
rs1453411120
|
|
NM_018062.4(FANCL):c.608T>G (p.Val203Gly)
|
rs1453411120
|
|
NM_018062.4(FANCL):c.60G>A (p.Arg20=)
|
|
|
NM_018062.4(FANCL):c.612G>A (p.Met204Ile)
|
|
|
NM_018062.4(FANCL):c.614A>C (p.Asp205Ala)
|
|
|
NM_018062.4(FANCL):c.614A>G (p.Asp205Gly)
|
|
|
NM_018062.4(FANCL):c.616G>T (p.Glu206Ter)
|
|
|
NM_018062.4(FANCL):c.624T>C (p.Asp208=)
|
rs2104817515
|
|
NM_018062.4(FANCL):c.625_627del (p.Glu209del)
|
rs1348381378
|
|
NM_018062.4(FANCL):c.626A>G (p.Glu209Gly)
|
|
|
NM_018062.4(FANCL):c.62C>A (p.Ser21Ter)
|
|
|
NM_018062.4(FANCL):c.62C>G (p.Ser21Trp)
|
|
|
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
|
|
|
NM_018062.4(FANCL):c.637G>C (p.Val213Leu)
|
rs2104817334
|
|
NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)
|
|
|
NM_018062.4(FANCL):c.642T>C (p.Leu214=)
|
|
|
NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)
|
|
|
NM_018062.4(FANCL):c.650A>G (p.Glu217Gly)
|
rs1360050423
|
|
NM_018062.4(FANCL):c.654A>G (p.Lys218=)
|
|
|
NM_018062.4(FANCL):c.659C>T (p.Pro220Leu)
|
|
|
NM_018062.4(FANCL):c.659del (p.Pro220fs)
|
|
|
NM_018062.4(FANCL):c.662G>T (p.Arg221Leu)
|
rs761742545
|
|
NM_018062.4(FANCL):c.663G>C (p.Arg221=)
|
|
|
NM_018062.4(FANCL):c.663G>T (p.Arg221=)
|
|
|
NM_018062.4(FANCL):c.666T>C (p.Ser222=)
|
|
|
NM_018062.4(FANCL):c.671C>A (p.Thr224Lys)
|
rs779439089
|
|
NM_018062.4(FANCL):c.676C>T (p.Arg226Cys)
|
|
|
NM_018062.4(FANCL):c.677G>T (p.Arg226Leu)
|
|
|
NM_018062.4(FANCL):c.680G>C (p.Arg227Thr)
|
|
|
NM_018062.4(FANCL):c.682del (p.Ile228fs)
|
|
|
NM_018062.4(FANCL):c.68C>T (p.Thr23Ile)
|
|
|
NM_018062.4(FANCL):c.691+2_691+5del
|
|
|
NM_018062.4(FANCL):c.691+8C>T
|
rs1327876704
|
|
NM_018062.4(FANCL):c.691+9A>G
|
|
|
NM_018062.4(FANCL):c.692-11T>C
|
|
|
NM_018062.4(FANCL):c.692-15C>A
|
|
|
NM_018062.4(FANCL):c.692-15C>G
|
rs370449029
|
|
NM_018062.4(FANCL):c.692-18A>C
|
|
|
NM_018062.4(FANCL):c.692-4C>A
|
|
|
NM_018062.4(FANCL):c.692-4C>G
|
|
|
NM_018062.4(FANCL):c.692-6T>C
|
rs1685523497
|
|
NM_018062.4(FANCL):c.693T>C (p.Gly231=)
|
|
|
NM_018062.4(FANCL):c.693T>G (p.Gly231=)
|
rs864622189
|
|
NM_018062.4(FANCL):c.694AAT[1] (p.Asn233del)
|
rs549637282
|
|
NM_018062.4(FANCL):c.699T>C (p.Asn233=)
|
|
|
NM_018062.4(FANCL):c.702T>C (p.Val234=)
|
|
|
NM_018062.4(FANCL):c.703T>C (p.Ser235Pro)
|
rs1383696633
|
|
NM_018062.4(FANCL):c.705C>T (p.Ser235=)
|
rs1553435677
|
|
NM_018062.4(FANCL):c.70del (p.Val24fs)
|
|
|
NM_018062.4(FANCL):c.716_728del (p.Glu239fs)
|
|
|
NM_018062.4(FANCL):c.719T>C (p.Val240Ala)
|
rs1195674676
|
|
NM_018062.4(FANCL):c.726C>A (p.Pro242=)
|
|
|
NM_018062.4(FANCL):c.727A>C (p.Arg243=)
|
rs941555289
|
|
NM_018062.4(FANCL):c.730C>T (p.His244Tyr)
|
|
|
NM_018062.4(FANCL):c.736A>G (p.Thr246Ala)
|
|
|
NM_018062.4(FANCL):c.737C>T (p.Thr246Ile)
|
rs2104800049
|
|
NM_018062.4(FANCL):c.738dup (p.Met247fs)
|
|
|
NM_018062.4(FANCL):c.739_740dup (p.Met247fs)
|
rs1685514075
|
|
NM_018062.4(FANCL):c.739dup (p.Met247fs)
|
rs1573518300
|
|
NM_018062.4(FANCL):c.746_756del (p.Pro249fs)
|
rs2104799800
|
|
NM_018062.4(FANCL):c.750G>C (p.Glu250Asp)
|
|
|
NM_018062.4(FANCL):c.754T>C (p.Phe252Leu)
|
rs780414432
|
|
NM_018062.4(FANCL):c.759_762del (p.Phe253fs)
|
rs1553435610
|
|
NM_018062.4(FANCL):c.75T>C (p.Tyr25=)
|
|
|
NM_018062.4(FANCL):c.760C>T (p.Leu254Phe)
|
rs1331385236
|
|
NM_018062.4(FANCL):c.761_771del (p.Leu254fs)
|
rs2104799592
|
|
NM_018062.4(FANCL):c.763G>A (p.Gly255Arg)
|
rs2104799685
|
|
NM_018062.4(FANCL):c.767C>G (p.Ala256Gly)
|
rs781438290
|
|
NM_018062.4(FANCL):c.768T>C (p.Ala256=)
|
|
|
NM_018062.4(FANCL):c.76G>C (p.Glu26Gln)
|
rs1694515857
|
|
NM_018062.4(FANCL):c.775+10C>G
|
rs751857451
|
|
NM_018062.4(FANCL):c.775+10C>T
|
|
|
NM_018062.4(FANCL):c.775+11T>G
|
|
|
NM_018062.4(FANCL):c.775+2T>C
|
|
|
NM_018062.4(FANCL):c.775+3A>G
|
rs975755966
|
|
NM_018062.4(FANCL):c.775+6A>G
|
|
|
NM_018062.4(FANCL):c.776-10del
|
rs374236117
|
|
NM_018062.4(FANCL):c.776-10dup
|
rs374236117
|
|
NM_018062.4(FANCL):c.776-11_776-10dup
|
rs374236117
|
|
NM_018062.4(FANCL):c.776-13_776-10del
|
rs374236117
|
|
NM_018062.4(FANCL):c.776-6C>G
|
rs1359670933
|
|
NM_018062.4(FANCL):c.776-8A>T
|
rs753745302
|
|
NM_018062.4(FANCL):c.776-8dup
|
|
|
NM_018062.4(FANCL):c.776-9A>T
|
rs1685446346
|
|
NM_018062.4(FANCL):c.778G>C (p.Val260Leu)
|
rs1573514956
|
|
NM_018062.4(FANCL):c.786C>T (p.Pro262=)
|
|
|
NM_018062.4(FANCL):c.795T>C (p.Ile265=)
|
rs1685442755
|
|
NM_018062.4(FANCL):c.801G>A (p.Leu267=)
|
|
|
NM_018062.4(FANCL):c.803G>A (p.Ser268Asn)
|
|
|
NM_018062.4(FANCL):c.805A>C (p.Arg269=)
|
|
|
NM_018062.4(FANCL):c.80G>T (p.Gly27Val)
|
|
|
NM_018062.4(FANCL):c.813_816del (p.His272fs)
|
rs1558735946
|
|
NM_018062.4(FANCL):c.814C>G (p.His272Asp)
|
rs1047208127
|
|
NM_018062.4(FANCL):c.819G>A (p.Leu273=)
|
|
|
NM_018062.4(FANCL):c.81A>C (p.Gly27=)
|
rs1553459821
|
|
NM_018062.4(FANCL):c.821+1G>A
|
|
|
NM_018062.4(FANCL):c.822-12C>T
|
|
|
NM_018062.4(FANCL):c.822-13C>G
|
|
|
NM_018062.4(FANCL):c.822-15dup
|
rs570217357
|
|
NM_018062.4(FANCL):c.822-4T>G
|
rs2104795280
|
|
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
|
|
|
NM_018062.4(FANCL):c.834T>C (p.Asn278=)
|
|
|
NM_018062.4(FANCL):c.842T>C (p.Leu281Ser)
|
rs935920468
|
|
NM_018062.4(FANCL):c.842T>G (p.Leu281Ter)
|
|
|
NM_018062.4(FANCL):c.845A>G (p.Gln282Arg)
|
rs2104794990
|
|
NM_018062.4(FANCL):c.846A>T (p.Gln282His)
|
rs535158133
|
|
NM_018062.4(FANCL):c.858T>C (p.Asp286=)
|
|
|
NM_018062.4(FANCL):c.862T>A (p.Leu288Ile)
|
|
|
NM_018062.4(FANCL):c.863T>C (p.Leu288Ser)
|
rs1573513610
|
|
NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)
|
|
|
NM_018062.4(FANCL):c.869T>C (p.Ile290Thr)
|
|
|
NM_018062.4(FANCL):c.873T>C (p.Asp291=)
|
rs773117904
|
|
NM_018062.4(FANCL):c.885_886insA (p.Ala296fs)
|
|
|
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
|
|
|
NM_018062.4(FANCL):c.89C>G (p.Ser30Trp)
|
rs763615183
|
|
NM_018062.4(FANCL):c.902C>A (p.Ser301Tyr)
|
|
|
NM_018062.4(FANCL):c.902C>G (p.Ser301Cys)
|
rs1405173705
|
|
NM_018062.4(FANCL):c.903+12C>T
|
|
|
NM_018062.4(FANCL):c.903+14G>A
|
|
|
NM_018062.4(FANCL):c.903+14G>T
|
|
|
NM_018062.4(FANCL):c.903+16_903+17del
|
|
|
NM_018062.4(FANCL):c.903+17T>A
|
|
|
NM_018062.4(FANCL):c.903+1G>T
|
|
|
NM_018062.4(FANCL):c.903+1_903+2del
|
|
|
NM_018062.4(FANCL):c.903+1del
|
|
|
NM_018062.4(FANCL):c.903+6T>A
|
|
|
NM_018062.4(FANCL):c.904-14T>C
|
|
|
NM_018062.4(FANCL):c.904-18_904-15del
|
|
|
NM_018062.4(FANCL):c.904-19A>G
|
|
|
NM_018062.4(FANCL):c.904-1G>A
|
rs2104783888
|
|
NM_018062.4(FANCL):c.904-20T>A
|
|
|
NM_018062.4(FANCL):c.904-4G>C
|
|
|
NM_018062.4(FANCL):c.904-4G>T
|
rs757211531
|
|
NM_018062.4(FANCL):c.904-7T>G
|
rs2104783967
|
|
NM_018062.4(FANCL):c.904-8T>G
|
rs2104784017
|
|
NM_018062.4(FANCL):c.904-9_904-7del
|
rs757041554
|
|
NM_018062.4(FANCL):c.904-9del
|
rs779011743
|
|
NM_018062.4(FANCL):c.908T>G (p.Phe303Cys)
|
|
|
NM_018062.4(FANCL):c.90G>T (p.Ser30=)
|
|
|
NM_018062.4(FANCL):c.911C>T (p.Thr304Ile)
|
rs746454771
|
|
NM_018062.4(FANCL):c.913A>G (p.Met305Val)
|
rs553742734
|
|
NM_018062.4(FANCL):c.913A>T (p.Met305Leu)
|
rs553742734
|
|
NM_018062.4(FANCL):c.914T>C (p.Met305Thr)
|
|
|
NM_018062.4(FANCL):c.921T>C (p.Cys307=)
|
rs959857056
|
|
NM_018062.4(FANCL):c.923G>A (p.Gly308Glu)
|
rs2104783676
|
|
NM_018062.4(FANCL):c.924A>T (p.Gly308=)
|
|
|
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)
|
rs529201454
|
|
NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter)
|
rs1423411761
|
|
NM_018062.4(FANCL):c.933T>C (p.Tyr311=)
|
|
|
NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
|
|
|
NM_018062.4(FANCL):c.934G>T (p.Ala312Ser)
|
rs2104783559
|
|
NM_018062.4(FANCL):c.936T>G (p.Ala312=)
|
|
|
NM_018062.4(FANCL):c.93T>C (p.Ala31=)
|
rs563039004
|
|
NM_018062.4(FANCL):c.940C>T (p.Gln314Ter)
|
|
|
NM_018062.4(FANCL):c.942A>G (p.Gln314=)
|
rs1163349462
|
|
NM_018062.4(FANCL):c.949G>A (p.Gly317Ser)
|
rs1060501896
|
|
NM_018062.4(FANCL):c.951T>G (p.Gly317=)
|
|
|
NM_018062.4(FANCL):c.953C>T (p.Thr318Ile)
|
|
|
NM_018062.4(FANCL):c.954C>T (p.Thr318=)
|
|
|
NM_018062.4(FANCL):c.955A>C (p.Ile319Leu)
|
|
|
NM_018062.4(FANCL):c.96+11A>G
|
|
|
NM_018062.4(FANCL):c.96+12G>A
|
|
|
NM_018062.4(FANCL):c.96+12G>C
|
|
|
NM_018062.4(FANCL):c.96+14G>A
|
|
|
NM_018062.4(FANCL):c.96+14_96+15inv
|
|
|
NM_018062.4(FANCL):c.96+15G>A
|
|
|
NM_018062.4(FANCL):c.96+18G>A
|
|
|
NM_018062.4(FANCL):c.96+2T>A
|
|
|
NM_018062.4(FANCL):c.96+2T>C
|
|
|
NM_018062.4(FANCL):c.96+4C>A
|
rs1279339819
|
|
NM_018062.4(FANCL):c.96+6C>T
|
rs544743506
|
|
NM_018062.4(FANCL):c.96+8C>G
|
|
|
NM_018062.4(FANCL):c.96+8C>T
|
|
|
NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)
|
|
|
NM_018062.4(FANCL):c.965A>G (p.Gln322Arg)
|
|
|
NM_018062.4(FANCL):c.967G>A (p.Val323Met)
|
rs763057392
|
|
NM_018062.4(FANCL):c.967G>T (p.Val323Leu)
|
rs763057392
|
|
NM_018062.4(FANCL):c.97-13A>T
|
|
|
NM_018062.4(FANCL):c.97-14A>C
|
|
|
NM_018062.4(FANCL):c.97-14A>G
|
|
|
NM_018062.4(FANCL):c.97-15C>T
|
rs2103921401
|
|
NM_018062.4(FANCL):c.97-15_97-11del
|
|
|
NM_018062.4(FANCL):c.97-20C>G
|
|
|
NM_018062.4(FANCL):c.97-4A>T
|
rs2103921076
|
|
NM_018062.4(FANCL):c.97-7T>C
|
|
|
NM_018062.4(FANCL):c.971G>C (p.Cys324Ser)
|
rs1685176362
|
|
NM_018062.4(FANCL):c.974A>T (p.Asp325Val)
|
|
|
NM_018062.4(FANCL):c.984G>T (p.Gln328His)
|
|
|