NM_002485.5(NBN):c.320+208G>A
|
rs1805796
|
0.52449
|
NM_002485.5(NBN):c.1197T>C (p.Asp399=)
|
rs709816
|
0.51063
|
NM_002485.5(NBN):c.480+292C>G
|
rs1805841
|
0.50930
|
NM_002485.5(NBN):c.2071-30A>T
|
rs3736639
|
0.32860
|
NM_002485.5(NBN):c.2184+123G>A
|
rs7840099
|
0.32815
|
NM_002485.5(NBN):c.172-132G>A
|
rs1805797
|
0.32798
|
NM_002485.5(NBN):c.38-283G>A
|
rs2073635
|
0.32794
|
NM_002485.5(NBN):c.102G>A (p.Leu34=)
|
rs1063045
|
0.32752
|
NM_002485.5(NBN):c.1915-7A>G
|
rs2308962
|
0.32733
|
NM_002485.5(NBN):c.1125-79C>A
|
rs1805786
|
0.32531
|
NM_002485.5(NBN):c.994+233G>A
|
rs6990969
|
0.32471
|
NM_002485.5(NBN):c.553G>C (p.Glu185Gln)
|
rs1805794
|
0.30329
|
NM_002485.5(NBN):c.*273G>A
|
rs1063053
|
0.30308
|
NM_002485.5(NBN):c.2184+311C>G
|
rs6470523
|
0.30130
|
NM_002485.5(NBN):c.1124+18C>T
|
rs2234744
|
0.30095
|
NM_002485.5(NBN):c.2016A>G (p.Pro672=)
|
rs1061302
|
0.30090
|
NM_002485.5(NBN):c.2184+228A>C
|
rs6470524
|
0.29761
|
NM_002485.5(NBN):c.1124+310G>A
|
rs7818989
|
0.07339
|
NM_002485.5(NBN):c.2235-172C>T
|
rs13312973
|
0.07093
|
NM_002485.5(NBN):c.1125-258T>C
|
rs1805815
|
0.06944
|
NM_002485.5(NBN):c.2234+88C>G
|
rs13312970
|
0.05951
|
NM_002485.5(NBN):c.896+167G>A
|
rs138144058
|
0.04955
|
NM_002485.5(NBN):c.702+149T>C
|
rs3026271
|
0.04335
|
NM_002485.5(NBN):c.897-171C>T
|
rs1805824
|
0.04063
|
NM_002485.5(NBN):c.2071-61A>T
|
rs3736640
|
0.03996
|
NM_002485.5(NBN):c.584+327G>A
|
rs1805834
|
0.03987
|
NM_002485.5(NBN):c.896+36G>A
|
rs1805826
|
0.03920
|
NM_002485.5(NBN):c.2234+157A>G
|
rs13312971
|
0.03911
|
NM_002485.5(NBN):c.703-18G>A
|
rs769418
|
0.03898
|
NM_002485.5(NBN):c.2185-122T>C
|
rs13312969
|
0.03598
|
NM_002485.5(NBN):c.1397+304C>T
|
rs13312925
|
0.03039
|
NM_002485.5(NBN):c.1397+157C>G
|
rs1805814
|
0.03035
|
NM_002485.5(NBN):c.702+150G>T
|
rs1805827
|
0.03032
|
NM_002485.5(NBN):c.585-81G>A
|
rs1805828
|
0.03022
|
NM_002485.5(NBN):c.172-66A>C
|
rs2308961
|
0.02451
|
NM_002485.5(NBN):c.321-29G>A
|
rs769417
|
0.02451
|
NM_002485.5(NBN):c.320+200C>A
|
rs55978729
|
0.02447
|
NM_002485.5(NBN):c.171+133A>G
|
rs13312854
|
0.02425
|
NM_002485.5(NBN):c.1125-86G>A
|
rs13312922
|
0.02417
|
NM_002485.5(NBN):c.897-64A>G
|
rs13312891
|
0.02360
|
NM_002485.5(NBN):c.38-308A>G
|
rs13312853
|
0.02217
|
NM_002485.5(NBN):c.321-89T>A
|
rs1805843
|
0.02213
|
NM_002485.5(NBN):c.321-224T>C
|
rs73696850
|
0.02097
|
NM_002485.5(NBN):c.2082T>G (p.Pro694=)
|
rs7823648
|
0.02020
|
NM_002485.5(NBN):c.37+237C>T
|
rs1805845
|
0.01932
|
NM_002485.5(NBN):c.1124+276T>A
|
rs13312904
|
0.01422
|
NM_002485.5(NBN):c.896+27A>C
|
rs114182293
|
0.01419
|
NM_002485.5(NBN):c.703-29C>T
|
rs104895034
|
0.01266
|
NM_002485.5(NBN):c.2070+33T>C
|
rs4987078
|
0.01200
|
NM_002485.5(NBN):c.1124+19C>T
|
rs13312903
|
0.00965
|
NM_002485.5(NBN):c.797C>T (p.Pro266Leu)
|
rs769420
|
0.00955
|
NM_002485.5(NBN):c.481-302A>G
|
rs150163091
|
0.00851
|
NM_002485.5(NBN):c.2184+304G>A
|
rs13312952
|
0.00833
|
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)
|
rs72563785
|
0.00830
|
NM_002485.5(NBN):c.37+30A>G
|
rs1805846
|
0.00808
|
NM_002485.5(NBN):c.37+5G>A
|
rs116735828
|
0.00767
|
NM_002485.5(NBN):c.2070+212T>A
|
rs13312946
|
0.00759
|
NM_002485.5(NBN):c.897-42G>C
|
rs141172426
|
0.00725
|
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala)
|
rs3026268
|
0.00711
|
NM_002485.5(NBN):c.1398-203G>A
|
rs139084367
|
0.00586
|
NM_002485.5(NBN):c.37+11A>G
|
rs115032431
|
0.00540
|
NC_000008.11:g.89984953T>A
|
rs1805847
|
0.00539
|
NM_002485.5(NBN):c.38-287A>G
|
rs75111709
|
0.00539
|
NM_002485.5(NBN):c.1398-112C>T
|
rs75602753
|
0.00536
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_002485.5(NBN):c.1398-19C>T
|
rs201495716
|
0.00157
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_002485.5(NBN):c.441C>T (p.Cys147=)
|
rs137857529
|
0.00062
|
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)
|
rs147626427
|
0.00059
|
NM_002485.5(NBN):c.896+4T>C
|
rs190843577
|
0.00054
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_002485.5(NBN):c.-26G>A
|
rs201392451
|
0.00045
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)
|
rs72550742
|
0.00030
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)
|
rs148205441
|
0.00025
|
NM_002485.5(NBN):c.939G>A (p.Ala313=)
|
rs145750430
|
0.00025
|
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)
|
rs372159380
|
0.00021
|
NM_002485.5(NBN):c.2220T>C (p.Ala740=)
|
rs147494981
|
0.00019
|
NM_002485.5(NBN):c.37+6G>A
|
rs540868733
|
0.00019
|
NM_002485.5(NBN):c.804G>A (p.Thr268=)
|
rs141443872
|
0.00019
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
NM_002485.5(NBN):c.2202A>G (p.Ala734=)
|
rs200452212
|
0.00016
|
NM_002485.5(NBN):c.38-10T>A
|
rs556807466
|
0.00015
|
NM_002485.5(NBN):c.1020A>G (p.Pro340=)
|
rs864622077
|
0.00014
|
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)
|
rs192236678
|
0.00014
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
NM_002485.5(NBN):c.1035C>T (p.Gly345=)
|
rs146605798
|
0.00011
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
NM_002485.5(NBN):c.279G>A (p.Ser93=)
|
rs587780781
|
0.00011
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
NM_002485.5(NBN):c.505C>T (p.Arg169Cys)
|
rs182756889
|
0.00011
|
NM_002485.5(NBN):c.-2C>T
|
rs202104448
|
0.00010
|
NM_002485.5(NBN):c.1986G>A (p.Leu662=)
|
rs571803328
|
0.00009
|
NM_002485.5(NBN):c.426T>C (p.Asn142=)
|
rs143070291
|
0.00009
|
NM_002485.5(NBN):c.38-19A>T
|
rs766849651
|
0.00008
|
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)
|
rs199845467
|
0.00008
|
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)
|
rs367760321
|
0.00007
|
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)
|
rs201781110
|
0.00007
|
NM_002485.5(NBN):c.227C>A (p.Thr76Asn)
|
rs587781412
|
0.00007
|
NM_002485.5(NBN):c.-12G>A
|
rs375584006
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_002485.5(NBN):c.1306T>C (p.Leu436=)
|
rs375885975
|
0.00006
|
NM_002485.5(NBN):c.1398-10T>A
|
rs539960851
|
0.00006
|
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)
|
rs587781881
|
0.00006
|
NM_002485.5(NBN):c.819A>T (p.Thr273=)
|
rs147660518
|
0.00006
|
NM_002485.5(NBN):c.930T>A (p.Ile310=)
|
rs142813526
|
0.00006
|
NM_002485.5(NBN):c.1454C>T (p.Thr485Met)
|
rs200891292
|
0.00005
|
NM_002485.5(NBN):c.2070+13A>G
|
rs558868023
|
0.00005
|
NM_002485.5(NBN):c.52C>A (p.Leu18Ile)
|
rs587781939
|
0.00005
|
NM_002485.5(NBN):c.664T>C (p.Phe222Leu)
|
rs541992192
|
0.00005
|
NM_002485.5(NBN):c.-10A>T
|
rs759094270
|
0.00004
|
NM_002485.5(NBN):c.-45G>A
|
rs766132288
|
0.00004
|
NM_002485.5(NBN):c.1083A>G (p.Thr361=)
|
rs761042468
|
0.00004
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
NM_002485.5(NBN):c.1124+20G>A
|
rs201436502
|
0.00004
|
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys)
|
rs544909538
|
0.00004
|
NM_002485.5(NBN):c.224G>C (p.Gly75Ala)
|
rs587782179
|
0.00004
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
NM_002485.5(NBN):c.481-18A>G
|
rs587781092
|
0.00004
|
NM_002485.5(NBN):c.506G>A (p.Arg169His)
|
rs776134250
|
0.00004
|
NM_002485.5(NBN):c.595C>T (p.Pro199Ser)
|
rs587780097
|
0.00004
|
NM_002485.5(NBN):c.633T>A (p.Asp211Glu)
|
rs377700348
|
0.00004
|
NM_002485.5(NBN):c.683T>G (p.Ile228Arg)
|
rs777460725
|
0.00004
|
NM_002485.5(NBN):c.702+16G>C
|
rs2272581
|
0.00004
|
NM_002485.5(NBN):c.720C>T (p.Ser240=)
|
rs781323381
|
0.00004
|
NM_002485.5(NBN):c.721G>A (p.Ala241Thr)
|
rs587781333
|
0.00004
|
NM_002485.5(NBN):c.73G>A (p.Val25Ile)
|
rs587781748
|
0.00004
|
NM_002485.5(NBN):c.803C>T (p.Thr268Met)
|
rs535602436
|
0.00004
|
NM_002485.5(NBN):c.1419A>G (p.Gln473=)
|
rs587780535
|
0.00003
|
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)
|
rs370058152
|
0.00003
|
NM_002485.5(NBN):c.2235-18C>T
|
rs138106214
|
0.00003
|
NM_002485.5(NBN):c.284A>G (p.Asp95Gly)
|
rs545276922
|
0.00003
|
NM_002485.5(NBN):c.302T>C (p.Val101Ala)
|
rs185493105
|
0.00003
|
NM_002485.5(NBN):c.547G>A (p.Ala183Thr)
|
rs151070415
|
0.00003
|
NM_002485.5(NBN):c.613A>G (p.Ile205Val)
|
rs730881845
|
0.00003
|
NM_002485.5(NBN):c.702+9G>A
|
rs748373099
|
0.00003
|
NM_002485.5(NBN):c.750G>T (p.Arg250Ser)
|
rs758852942
|
0.00003
|
NM_002485.5(NBN):c.80G>T (p.Gly27Val)
|
rs755171159
|
0.00003
|
NM_002485.5(NBN):c.896+13T>G
|
rs376695206
|
0.00003
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_002485.5(NBN):c.935T>C (p.Leu312Ser)
|
rs371480039
|
0.00003
|
NM_002485.5(NBN):c.936G>A (p.Leu312=)
|
rs148517156
|
0.00003
|
NM_002485.5(NBN):c.994+20A>G
|
rs756077531
|
0.00003
|
NM_002485.5(NBN):c.995-12T>C
|
rs1057521081
|
0.00003
|
NM_002485.5(NBN):c.-16C>T
|
rs751492107
|
0.00002
|
NM_002485.5(NBN):c.-21C>T
|
rs746164250
|
0.00002
|
NM_002485.5(NBN):c.-36G>A
|
rs762098812
|
0.00002
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_002485.5(NBN):c.1124+37C>G
|
rs577575764
|
0.00002
|
NM_002485.5(NBN):c.1125-3C>T
|
rs587781326
|
0.00002
|
NM_002485.5(NBN):c.120G>T (p.Ser40=)
|
rs774989816
|
0.00002
|
NM_002485.5(NBN):c.1434C>T (p.Cys478=)
|
rs1060503473
|
0.00002
|
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu)
|
rs863224714
|
0.00002
|
NM_002485.5(NBN):c.1667T>A (p.Val556Glu)
|
rs558023830
|
0.00002
|
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu)
|
rs587780090
|
0.00002
|
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)
|
rs730881856
|
0.00002
|
NM_002485.5(NBN):c.2070+4G>A
|
rs876660950
|
0.00002
|
NM_002485.5(NBN):c.2139T>C (p.Ala713=)
|
rs755274971
|
0.00002
|
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln)
|
rs753270166
|
0.00002
|
NM_002485.5(NBN):c.2184+8G>C
|
rs730881842
|
0.00002
|
NM_002485.5(NBN):c.2190A>G (p.Gln730=)
|
rs786203112
|
0.00002
|
NM_002485.5(NBN):c.24G>A (p.Ala8=)
|
rs779543740
|
0.00002
|
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)
|
rs587780095
|
0.00002
|
NM_002485.5(NBN):c.301G>A (p.Val101Met)
|
rs786202139
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_002485.5(NBN):c.38-20T>A
|
rs774709748
|
0.00002
|
NM_002485.5(NBN):c.663C>T (p.Ile221=)
|
rs372705975
|
0.00002
|
NM_002485.5(NBN):c.775G>A (p.Glu259Lys)
|
rs201559159
|
0.00002
|
NM_002485.5(NBN):c.940G>A (p.Val314Met)
|
rs529845940
|
0.00002
|
NM_002485.5(NBN):c.949A>G (p.Met317Val)
|
rs587782502
|
0.00002
|
NM_002485.5(NBN):c.966C>T (p.Tyr322=)
|
rs748453607
|
0.00002
|
NM_002485.5(NBN):c.995-17A>G
|
rs372875251
|
0.00002
|
NM_002485.5(NBN):c.-15T>A
|
rs376360566
|
0.00001
|
NM_002485.5(NBN):c.-31A>T
|
rs776530327
|
0.00001
|
NM_002485.5(NBN):c.-39G>A
|
rs1248181473
|
0.00001
|
NM_002485.5(NBN):c.-47C>G
|
rs1057524568
|
0.00001
|
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)
|
rs756023239
|
0.00001
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
NM_002485.5(NBN):c.1034G>T (p.Gly345Val)
|
rs587780089
|
0.00001
|
NM_002485.5(NBN):c.1056A>G (p.Leu352=)
|
rs369092711
|
0.00001
|
NM_002485.5(NBN):c.1063A>G (p.Ser355Gly)
|
rs762376159
|
0.00001
|
NM_002485.5(NBN):c.1076A>G (p.Asn359Ser)
|
rs768886664
|
0.00001
|
NM_002485.5(NBN):c.1091T>C (p.Val364Ala)
|
rs370229163
|
0.00001
|
NM_002485.5(NBN):c.1122A>G (p.Thr374=)
|
rs876660925
|
0.00001
|
NM_002485.5(NBN):c.1124+9T>G
|
rs864622466
|
0.00001
|
NM_002485.5(NBN):c.1125-11T>G
|
rs1373365760
|
0.00001
|
NM_002485.5(NBN):c.1147G>A (p.Glu383Lys)
|
rs772909239
|
0.00001
|
NM_002485.5(NBN):c.1163A>G (p.Lys388Arg)
|
rs947104724
|
0.00001
|
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu)
|
rs941732827
|
0.00001
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)
|
rs529340553
|
0.00001
|
NM_002485.5(NBN):c.123del (p.Ser42fs)
|
rs587781891
|
0.00001
|
NM_002485.5(NBN):c.1248G>T (p.Met416Ile)
|
rs756572268
|
0.00001
|
NM_002485.5(NBN):c.1281A>G (p.Pro427=)
|
rs1554559167
|
0.00001
|
NM_002485.5(NBN):c.1299A>G (p.Pro433=)
|
rs1161505808
|
0.00001
|
NM_002485.5(NBN):c.1351C>G (p.Gln451Glu)
|
rs1011573169
|
0.00001
|
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr)
|
rs587780774
|
0.00001
|
NM_002485.5(NBN):c.1383G>A (p.Pro461=)
|
rs886063169
|
0.00001
|
NM_002485.5(NBN):c.1398-17T>G
|
rs561077201
|
0.00001
|
NM_002485.5(NBN):c.1398-9A>T
|
rs773093849
|
0.00001
|
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser)
|
rs730881851
|
0.00001
|
NM_002485.5(NBN):c.1415A>G (p.Asn472Ser)
|
rs750711786
|
0.00001
|
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys)
|
rs776900339
|
0.00001
|
NM_002485.5(NBN):c.153C>A (p.Asn51Lys)
|
rs876661214
|
0.00001
|
NM_002485.5(NBN):c.1549A>G (p.Asn517Asp)
|
rs1040315184
|
0.00001
|
NM_002485.5(NBN):c.1559A>G (p.Asn520Ser)
|
rs750981708
|
0.00001
|
NM_002485.5(NBN):c.1563C>T (p.Asn521=)
|
rs765959451
|
0.00001
|
NM_002485.5(NBN):c.1619A>G (p.His540Arg)
|
rs730881852
|
0.00001
|
NM_002485.5(NBN):c.1657A>G (p.Met553Val)
|
rs746347634
|
0.00001
|
NM_002485.5(NBN):c.1659G>A (p.Met553Ile)
|
rs876659960
|
0.00001
|
NM_002485.5(NBN):c.1671C>A (p.Ala557=)
|
rs1057521670
|
0.00001
|
NM_002485.5(NBN):c.1684G>A (p.Val562Ile)
|
rs754651655
|
0.00001
|
NM_002485.5(NBN):c.1703A>G (p.Lys568Arg)
|
rs1488036998
|
0.00001
|
NM_002485.5(NBN):c.171+12A>G
|
rs922134221
|
0.00001
|
NM_002485.5(NBN):c.171+14T>C
|
rs1432243629
|
0.00001
|
NM_002485.5(NBN):c.171+4T>C
|
rs587782290
|
0.00001
|
NM_002485.5(NBN):c.1716dup (p.Glu573fs)
|
rs1060503483
|
0.00001
|
NM_002485.5(NBN):c.172-3C>T
|
rs587781620
|
0.00001
|
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)
|
rs763926389
|
0.00001
|
NM_002485.5(NBN):c.1761C>T (p.Val587=)
|
rs769773789
|
0.00001
|
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser)
|
rs876658681
|
0.00001
|
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)
|
rs746632073
|
0.00001
|
NM_002485.5(NBN):c.1915-8C>T
|
rs368132097
|
0.00001
|
NM_002485.5(NBN):c.1919A>G (p.Asn640Ser)
|
rs748073091
|
0.00001
|
NM_002485.5(NBN):c.1932G>A (p.Gln644=)
|
rs754783870
|
0.00001
|
NM_002485.5(NBN):c.1973A>G (p.Glu658Gly)
|
rs587782155
|
0.00001
|
NM_002485.5(NBN):c.1989G>A (p.Val663=)
|
rs757753217
|
0.00001
|
NM_002485.5(NBN):c.2037T>C (p.Tyr679=)
|
rs864622555
|
0.00001
|
NM_002485.5(NBN):c.2070+15T>G
|
rs764467759
|
0.00001
|
NM_002485.5(NBN):c.2070+7A>G
|
rs757339440
|
0.00001
|
NM_002485.5(NBN):c.2071-4A>G
|
rs746994234
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.2134C>A (p.His712Asn)
|
rs781520763
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)
|
rs587780093
|
0.00001
|
NM_002485.5(NBN):c.2151A>G (p.Thr717=)
|
rs760687282
|
0.00001
|
NM_002485.5(NBN):c.2165G>C (p.Trp722Ser)
|
rs786204181
|
0.00001
|
NM_002485.5(NBN):c.2184+1G>T
|
rs756363734
|
0.00001
|
NM_002485.5(NBN):c.2185-15T>C
|
rs1259580674
|
0.00001
|
NM_002485.5(NBN):c.2196A>G (p.Gln732=)
|
rs587780780
|
0.00001
|
NM_002485.5(NBN):c.2234+2T>G
|
rs142301194
|
0.00001
|
NM_002485.5(NBN):c.2235-19C>T
|
rs1057524430
|
0.00001
|
NM_002485.5(NBN):c.2235-8C>T
|
rs369037495
|
0.00001
|
NM_002485.5(NBN):c.2247T>C (p.Tyr749=)
|
rs762740478
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.321-17C>G
|
rs763878712
|
0.00001
|
NM_002485.5(NBN):c.321-3C>T
|
rs751356470
|
0.00001
|
NM_002485.5(NBN):c.323T>C (p.Ile108Thr)
|
rs775217949
|
0.00001
|
NM_002485.5(NBN):c.332A>G (p.Glu111Gly)
|
rs876659320
|
0.00001
|
NM_002485.5(NBN):c.333G>A (p.Glu111=)
|
rs376455714
|
0.00001
|
NM_002485.5(NBN):c.362A>G (p.Asp121Gly)
|
rs770163751
|
0.00001
|
NM_002485.5(NBN):c.37+3A>G
|
rs764356392
|
0.00001
|
NM_002485.5(NBN):c.370G>A (p.Gly124Arg)
|
rs1064794806
|
0.00001
|
NM_002485.5(NBN):c.38-5C>T
|
rs775244752
|
0.00001
|
NM_002485.5(NBN):c.38-7A>G
|
rs863224392
|
0.00001
|
NM_002485.5(NBN):c.38-8T>C
|
rs62531987
|
0.00001
|
NM_002485.5(NBN):c.390A>G (p.Gln130=)
|
rs146150499
|
0.00001
|
NM_002485.5(NBN):c.415A>G (p.Thr139Ala)
|
rs543852763
|
0.00001
|
NM_002485.5(NBN):c.420A>G (p.Val140=)
|
rs767296279
|
0.00001
|
NM_002485.5(NBN):c.448C>T (p.Leu150Phe)
|
rs773119929
|
0.00001
|
NM_002485.5(NBN):c.45A>G (p.Pro15=)
|
rs577332041
|
0.00001
|
NM_002485.5(NBN):c.468A>C (p.Lys156Asn)
|
rs730881858
|
0.00001
|
NM_002485.5(NBN):c.481-18_481-17del
|
rs778286254
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.483A>G (p.Thr161=)
|
rs758276775
|
0.00001
|
NM_002485.5(NBN):c.493C>A (p.Leu165Ile)
|
rs776810966
|
0.00001
|
NM_002485.5(NBN):c.525A>G (p.Glu175=)
|
rs769400631
|
0.00001
|
NM_002485.5(NBN):c.584+3A>G
|
rs587782407
|
0.00001
|
NM_002485.5(NBN):c.584+9T>C
|
rs746913991
|
0.00001
|
NM_002485.5(NBN):c.585-15T>C
|
rs746465355
|
0.00001
|
NM_002485.5(NBN):c.588T>C (p.Phe196=)
|
rs745821999
|
0.00001
|
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)
|
rs730881844
|
0.00001
|
NM_002485.5(NBN):c.601G>A (p.Asp201Asn)
|
rs757186245
|
0.00001
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
NM_002485.5(NBN):c.620G>T (p.Ser207Ile)
|
rs587780099
|
0.00001
|
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)
|
rs61753718
|
0.00001
|
NM_002485.5(NBN):c.649G>C (p.Glu217Gln)
|
rs760275251
|
0.00001
|
NM_002485.5(NBN):c.658C>G (p.Gln220Glu)
|
rs876659811
|
0.00001
|
NM_002485.5(NBN):c.660A>G (p.Gln220=)
|
rs876658674
|
0.00001
|
NM_002485.5(NBN):c.666C>T (p.Phe222=)
|
rs876661098
|
0.00001
|
NM_002485.5(NBN):c.692A>G (p.Asn231Ser)
|
rs1309274168
|
0.00001
|
NM_002485.5(NBN):c.696C>T (p.Ala232=)
|
rs566091759
|
0.00001
|
NM_002485.5(NBN):c.703-14C>T
|
rs1411178267
|
0.00001
|
NM_002485.5(NBN):c.703-17T>C
|
rs1057523604
|
0.00001
|
NM_002485.5(NBN):c.72C>T (p.Tyr24=)
|
rs1001590969
|
0.00001
|
NM_002485.5(NBN):c.773A>G (p.Glu258Gly)
|
rs786203380
|
0.00001
|
NM_002485.5(NBN):c.783T>G (p.Asn261Lys)
|
rs375336614
|
0.00001
|
NM_002485.5(NBN):c.798G>A (p.Pro266=)
|
rs368786672
|
0.00001
|
NM_002485.5(NBN):c.815A>G (p.Asp272Gly)
|
rs730881847
|
0.00001
|
NM_002485.5(NBN):c.881T>C (p.Met294Thr)
|
rs779346343
|
0.00001
|
NM_002485.5(NBN):c.897G>A (p.Arg299=)
|
rs779798363
|
0.00001
|
NM_002485.5(NBN):c.938C>T (p.Ala313Val)
|
rs730881862
|
0.00001
|
NC_000008.11:g.89984913_89984916del
|
rs36226237
|
|
NM_002485.4:c.703-20insA
|
|
|
NM_002485.5(NBN):c.*2_*3del
|
rs1064795633
|
|
NM_002485.5(NBN):c.*316A>G
|
rs13312976
|
|
NM_002485.5(NBN):c.-2C>A
|
rs202104448
|
|
NM_002485.5(NBN):c.-37G>A
|
rs543890002
|
|
NM_002485.5(NBN):c.-37G>C
|
rs543890002
|
|
NM_002485.5(NBN):c.-38C>G
|
rs1057522006
|
|
NM_002485.5(NBN):c.-40C>T
|
rs730881843
|
|
NM_002485.5(NBN):c.-46C>G
|
rs751549166
|
|
NM_002485.5(NBN):c.-48C>G
|
rs202115031
|
|
NM_002485.5(NBN):c.-49C>T
|
rs919235957
|
|
NM_002485.5(NBN):c.1000A>G (p.Lys334Glu)
|
rs2129747101
|
|
NM_002485.5(NBN):c.1005AAC[3] (p.Thr337dup)
|
rs770500095
|
|
NM_002485.5(NBN):c.1008A>T (p.Thr336=)
|
rs786201619
|
|
NM_002485.5(NBN):c.105T>A (p.Ile35=)
|
rs78870221
|
|
NM_002485.5(NBN):c.105T>G (p.Ile35Met)
|
rs78870221
|
|
NM_002485.5(NBN):c.105_135del (p.Ile35fs)
|
rs730881840
|
|
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser)
|
rs1064794336
|
|
NM_002485.5(NBN):c.1079C>G (p.Thr360Ser)
|
rs879020505
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1095T>C (p.Ala365=)
|
rs1554560368
|
|
NM_002485.5(NBN):c.1107A>G (p.Ser369=)
|
rs1586065630
|
|
NM_002485.5(NBN):c.1113A>T (p.Gln371His)
|
rs1810848534
|
|
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile)
|
rs1174990974
|
|
NM_002485.5(NBN):c.1124+11_1124+13del
|
rs747584990
|
|
NM_002485.5(NBN):c.1124+12T>C
|
rs1057521099
|
|
NM_002485.5(NBN):c.1124+5A>T
|
rs587782108
|
|
NM_002485.5(NBN):c.1124+91C>A
|
rs1805818
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.116A>G (p.Gln39Arg)
|
|
|
NM_002485.5(NBN):c.1170A>G (p.Glu390=)
|
rs1554559326
|
|
NM_002485.5(NBN):c.117G>A (p.Gln39=)
|
rs1057524429
|
|
NM_002485.5(NBN):c.1194A>G (p.Gln398=)
|
rs200046373
|
|
NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr)
|
|
|
NM_002485.5(NBN):c.11T>C (p.Leu4Pro)
|
rs748090667
|
|
NM_002485.5(NBN):c.1202C>A (p.Pro401His)
|
rs104895033
|
|
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg)
|
rs104895033
|
|
NM_002485.5(NBN):c.1207G>A (p.Val403Ile)
|
|
|
NM_002485.5(NBN):c.120G>A (p.Ser40=)
|
rs774989816
|
|
NM_002485.5(NBN):c.1228A>C (p.Ser410Arg)
|
rs1185542329
|
|
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys)
|
rs551032019
|
|
NM_002485.5(NBN):c.1245T>C (p.Ser415=)
|
rs776180689
|
|
NM_002485.5(NBN):c.1255A>G (p.Asn419Asp)
|
rs730881849
|
|
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
NM_002485.5(NBN):c.1260T>A (p.Thr420=)
|
rs1554559199
|
|
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys)
|
rs1060503478
|
|
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)
|
rs786202302
|
|
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile)
|
rs757452107
|
|
NM_002485.5(NBN):c.1303A>G (p.Lys435Glu)
|
rs749512960
|
|
NM_002485.5(NBN):c.1314T>C (p.Ser438=)
|
rs1057521491
|
|
NM_002485.5(NBN):c.1336G>A (p.Ala446Thr)
|
rs1586058411
|
|
NM_002485.5(NBN):c.1338T>C (p.Ala446=)
|
rs1373132755
|
|
NM_002485.5(NBN):c.1352_1353delinsCC (p.Gln451Pro)
|
rs1554559065
|
|
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser)
|
rs876659312
|
|
NM_002485.5(NBN):c.1397+12A>T
|
rs1057521287
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
NM_002485.5(NBN):c.1397+2T>A
|
rs730881850
|
|
NM_002485.5(NBN):c.1397+33dup
|
rs13312923
|
|
NM_002485.5(NBN):c.1397+42_1397+43insA
|
rs2129715697
|
|
NM_002485.5(NBN):c.1397+46del
|
rs13312924
|
|
NM_002485.5(NBN):c.1397+4T>C
|
rs770699381
|
|
NM_002485.5(NBN):c.1398-10dup
|
rs587780555
|
|
NM_002485.5(NBN):c.1410A>G (p.Glu470=)
|
rs1554558592
|
|
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)
|
rs755805461
|
|
NM_002485.5(NBN):c.141_142del (p.Leu48fs)
|
rs750375741
|
|
NM_002485.5(NBN):c.1427C>G (p.Ser476Cys)
|
rs2129703826
|
|
NM_002485.5(NBN):c.1443A>G (p.Ala481=)
|
rs751121403
|
|
NM_002485.5(NBN):c.1448T>C (p.Ile483Thr)
|
rs876658347
|
|
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro)
|
rs587781380
|
|
NM_002485.5(NBN):c.145A>C (p.Thr49Pro)
|
rs1064794807
|
|
NM_002485.5(NBN):c.1466_1492del (p.Leu489_Thr497del)
|
|
|
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)
|
rs587782130
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.1486G>A (p.Ala496Thr)
|
rs730881863
|
|
NM_002485.5(NBN):c.1492C>A (p.Pro498Thr)
|
rs915825113
|
|
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro)
|
rs1554558483
|
|
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)
|
rs1554558472
|
|
NM_002485.5(NBN):c.1509T>C (p.Asn503=)
|
rs876660751
|
|
NM_002485.5(NBN):c.1509T>G (p.Asn503Lys)
|
rs876660751
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.1520A>G (p.His507Arg)
|
rs587782520
|
|
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp)
|
rs1283330641
|
|
NM_002485.5(NBN):c.153_155delinsGTG (p.Asn51_Phe52delinsLysCys)
|
rs1064794651
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1587A>G (p.Lys529=)
|
rs1057521983
|
|
NM_002485.5(NBN):c.158C>G (p.Ser53Cys)
|
rs876660243
|
|
NM_002485.5(NBN):c.1594G>A (p.Val532Met)
|
rs545435120
|
|
NM_002485.5(NBN):c.1598A>G (p.Lys533Arg)
|
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1649A>G (p.Lys550Arg)
|
rs2129699455
|
|
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn)
|
rs1554558368
|
|
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln)
|
rs1064793213
|
|
NM_002485.5(NBN):c.1660G>C (p.Asp554His)
|
rs1554558349
|
|
NM_002485.5(NBN):c.1661A>T (p.Asp554Val)
|
|
|
NM_002485.5(NBN):c.1675G>A (p.Glu559Lys)
|
rs2129698794
|
|
NM_002485.5(NBN):c.169C>G (p.Leu57Val)
|
|
|
NM_002485.5(NBN):c.16C>T (p.Pro6Ser)
|
rs730881859
|
|
NM_002485.5(NBN):c.1701C>G (p.Phe567Leu)
|
rs730881853
|
|
NM_002485.5(NBN):c.1707C>T (p.Asp569=)
|
rs1057522522
|
|
NM_002485.5(NBN):c.1708A>G (p.Thr570Ala)
|
rs730881854
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.171+9C>T
|
rs1057522123
|
|
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu)
|
rs1554558303
|
|
NM_002485.5(NBN):c.171G>T (p.Leu57=)
|
rs1554569001
|
|
NM_002485.5(NBN):c.172-303_172-302del
|
rs13312857
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.175C>G (p.Gln59Glu)
|
rs1554568427
|
|
NM_002485.5(NBN):c.1783A>G (p.Met595Val)
|
rs2129696684
|
|
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly)
|
rs1005715125
|
|
NM_002485.5(NBN):c.1789A>T (p.Ile597Leu)
|
rs864622167
|
|
NM_002485.5(NBN):c.1791A>G (p.Ile597Met)
|
rs1810523727
|
|
NM_002485.5(NBN):c.1808T>C (p.Phe603Ser)
|
rs1810522468
|
|
NM_002485.5(NBN):c.1833T>C (p.Ser611=)
|
rs1554558203
|
|
NM_002485.5(NBN):c.1842A>G (p.Ile614Met)
|
rs770345026
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
NM_002485.5(NBN):c.1915-6T>C
|
rs1586040852
|
|
NM_002485.5(NBN):c.1933G>A (p.Asp645Asn)
|
rs1064796613
|
|
NM_002485.5(NBN):c.1933G>T (p.Asp645Tyr)
|
rs1064796613
|
|
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg)
|
rs1477953712
|
|
NM_002485.5(NBN):c.1952C>G (p.Pro651Arg)
|
rs1554556572
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.1998C>T (p.Asn666=)
|
rs1057523508
|
|
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln)
|
rs587780092
|
|
NM_002485.5(NBN):c.2070+18A>G
|
rs756636190
|
|
NM_002485.5(NBN):c.2070+1G>T
|
rs1554556454
|
|
NM_002485.5(NBN):c.2071-1G>A
|
rs786201965
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
NM_002485.5(NBN):c.2074A>G (p.Thr692Ala)
|
|
|
NM_002485.5(NBN):c.2075C>T (p.Thr692Ile)
|
rs1060503474
|
|
NM_002485.5(NBN):c.2083G>A (p.Gly695Arg)
|
rs1554555835
|
|
NM_002485.5(NBN):c.2102A>G (p.His701Arg)
|
rs2130755980
|
|
NM_002485.5(NBN):c.2108_2109dup (p.Gly704fs)
|
rs876661189
|
|
NM_002485.5(NBN):c.2122C>T (p.Leu708=)
|
rs756580887
|
|
NM_002485.5(NBN):c.212_215del (p.Asn71fs)
|
rs1064795634
|
|
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)
|
rs730881864
|
|
NM_002485.5(NBN):c.2149A>G (p.Thr717Ala)
|
rs587780093
|
|
NM_002485.5(NBN):c.2155_2157dup (p.Leu719dup)
|
rs864622241
|
|
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)
|
rs1064795816
|
|
NM_002485.5(NBN):c.2172G>A (p.Arg724=)
|
rs1057523944
|
|
NM_002485.5(NBN):c.2183A>G (p.Glu728Gly)
|
rs1060503487
|
|
NM_002485.5(NBN):c.2184+200_2184+201dup
|
rs10631091
|
|
NM_002485.5(NBN):c.2184+200dup
|
rs10631091
|
|
NM_002485.5(NBN):c.2184+209_2184+214del
|
rs10631091
|
|
NM_002485.5(NBN):c.2184+214del
|
rs10631091
|
|
NM_002485.5(NBN):c.2187A>G (p.Val729=)
|
rs1057523526
|
|
NM_002485.5(NBN):c.2191A>T (p.Asn731Tyr)
|
rs369649307
|
|
NM_002485.5(NBN):c.2198A>G (p.His733Arg)
|
rs998714046
|
|
NM_002485.5(NBN):c.21C>G (p.Ala7=)
|
rs370050587
|
|
NM_002485.5(NBN):c.21C>T (p.Ala7=)
|
rs370050587
|
|
NM_002485.5(NBN):c.220T>C (p.Tyr74His)
|
rs587780094
|
|
NM_002485.5(NBN):c.2210_2211del (p.Glu737fs)
|
rs774508816
|
|
NM_002485.5(NBN):c.2217T>C (p.Leu739=)
|
rs760207156
|
|
NM_002485.5(NBN):c.2234+12T>C
|
rs1057523867
|
|
NM_002485.5(NBN):c.2234+14C>T
|
rs763071338
|
|
NM_002485.5(NBN):c.2234+17C>T
|
rs1057524773
|
|
NM_002485.5(NBN):c.2235-220_2235-218del
|
rs527762933
|
|
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)
|
rs751570713
|
|
NM_002485.5(NBN):c.224del (p.Gly75fs)
|
rs1554568344
|
|
NM_002485.5(NBN):c.2260A>C (p.Arg754=)
|
rs2130735641
|
|
NM_002485.5(NBN):c.227C>T (p.Thr76Ile)
|
rs587781412
|
|
NM_002485.5(NBN):c.231T>A (p.Phe77Leu)
|
rs1554568336
|
|
NM_002485.5(NBN):c.235A>C (p.Asn79His)
|
rs786202749
|
|
NM_002485.5(NBN):c.241G>A (p.Glu81Lys)
|
rs1064795037
|
|
NM_002485.5(NBN):c.247A>T (p.Met83Leu)
|
rs955258267
|
|
NM_002485.5(NBN):c.249G>A (p.Met83Ile)
|
rs1438838735
|
|
NM_002485.5(NBN):c.266G>A (p.Arg89Gln)
|
rs747315554
|
|
NM_002485.5(NBN):c.27C>T (p.Gly9=)
|
rs1554569662
|
|
NM_002485.5(NBN):c.283G>C (p.Asp95His)
|
rs61753720
|
|
NM_002485.5(NBN):c.289A>G (p.Ile97Val)
|
rs730881855
|
|
NM_002485.5(NBN):c.2T>C (p.Met1Thr)
|
rs746422391
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.320+8A>G
|
rs1057523296
|
|
NM_002485.5(NBN):c.325G>C (p.Glu109Gln)
|
rs587780096
|
|
NM_002485.5(NBN):c.325G>T (p.Glu109Ter)
|
rs587780096
|
|
NM_002485.5(NBN):c.332A>C (p.Glu111Ala)
|
rs876659320
|
|
NM_002485.5(NBN):c.335C>G (p.Pro112Arg)
|
rs759723870
|
|
NM_002485.5(NBN):c.340G>T (p.Val114Phe)
|
rs771034958
|
|
NM_002485.5(NBN):c.348C>T (p.Cys116=)
|
rs1057520332
|
|
NM_002485.5(NBN):c.34G>A (p.Gly12Arg)
|
rs878854511
|
|
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)
|
rs730881841
|
|
NM_002485.5(NBN):c.35G>C (p.Gly12Ala)
|
rs730881860
|
|
NM_002485.5(NBN):c.37+12A>C
|
rs771196279
|
|
NM_002485.5(NBN):c.37+6G>C
|
rs540868733
|
|
NM_002485.5(NBN):c.37+8C>T
|
rs1554569655
|
|
NM_002485.5(NBN):c.375A>G (p.Lys125=)
|
rs1554567977
|
|
NM_002485.5(NBN):c.376A>T (p.Thr126Ser)
|
rs1484120047
|
|
NM_002485.5(NBN):c.38-11A>T
|
rs770165601
|
|
NM_002485.5(NBN):c.38-11del
|
rs752004731
|
|
NM_002485.5(NBN):c.38-11dup
|
rs752004731
|
|
NM_002485.5(NBN):c.38-20dup
|
rs757737980
|
|
NM_002485.5(NBN):c.38-3C>G
|
rs876661099
|
|
NM_002485.5(NBN):c.393T>G (p.Ala131=)
|
rs372061224
|
|
NM_002485.5(NBN):c.397T>C (p.Leu133=)
|
rs1229464840
|
|
NM_002485.5(NBN):c.40G>A (p.Glu14Lys)
|
rs745439506
|
|
NM_002485.5(NBN):c.428G>A (p.Trp143Ter)
|
rs2129908974
|
|
NM_002485.5(NBN):c.436G>C (p.Glu146Gln)
|
rs1812023357
|
|
NM_002485.5(NBN):c.442A>T (p.Thr148Ser)
|
rs1060503479
|
|
NM_002485.5(NBN):c.453C>T (p.Val151=)
|
rs1176879721
|
|
NM_002485.5(NBN):c.459A>G (p.Val153=)
|
rs566630862
|
|
NM_002485.5(NBN):c.477dup (p.Lys160Ter)
|
rs1554567847
|
|
NM_002485.5(NBN):c.480+3A>G
|
rs756817252
|
|
NM_002485.5(NBN):c.481-2A>G
|
rs751567476
|
|
NM_002485.5(NBN):c.481-5T>C
|
rs2129890359
|
|
NM_002485.5(NBN):c.504A>C (p.Gly168=)
|
rs1057521464
|
|
NM_002485.5(NBN):c.519G>C (p.Lys173Asn)
|
|
|
NM_002485.5(NBN):c.523G>A (p.Glu175Lys)
|
rs730881861
|
|
NM_002485.5(NBN):c.530T>C (p.Phe177Ser)
|
rs1064796090
|
|
NM_002485.5(NBN):c.536A>T (p.Glu179Val)
|
rs864622578
|
|
NM_002485.5(NBN):c.544A>G (p.Lys182Glu)
|
rs1064793211
|
|
NM_002485.5(NBN):c.55_56del (p.Leu19fs)
|
rs876659305
|
|
NM_002485.5(NBN):c.572C>T (p.Pro191Leu)
|
rs876661071
|
|
NM_002485.5(NBN):c.580G>T (p.Glu194Ter)
|
rs1554566610
|
|
NM_002485.5(NBN):c.584+6T>C
|
rs1554566602
|
|
NM_002485.5(NBN):c.584+7T>A
|
rs1057523869
|
|
NM_002485.5(NBN):c.584+9T>A
|
rs746913991
|
|
NM_002485.5(NBN):c.585-1G>A
|
rs1394578008
|
|
NM_002485.5(NBN):c.585-1_585delinsC
|
rs786203662
|
|
NM_002485.5(NBN):c.589del (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.589dup (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
NM_002485.5(NBN):c.593C>T (p.Pro198Leu)
|
rs951997505
|
|
NM_002485.5(NBN):c.602A>G (p.Asp201Gly)
|
rs587780098
|
|
NM_002485.5(NBN):c.602A>T (p.Asp201Val)
|
rs587780098
|
|
NM_002485.5(NBN):c.618A>G (p.Gly206=)
|
rs1554564281
|
|
NM_002485.5(NBN):c.63C>T (p.Gly21=)
|
rs1064795458
|
|
NM_002485.5(NBN):c.640G>C (p.Gly214Arg)
|
rs1554564269
|
|
NM_002485.5(NBN):c.655A>C (p.Lys219Gln)
|
rs730881846
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.680T>C (p.Phe227Ser)
|
rs749025721
|
|
NM_002485.5(NBN):c.684A>G (p.Ile228Met)
|
rs1064793416
|
|
NM_002485.5(NBN):c.693T>G (p.Asn231Lys)
|
|
|
NM_002485.5(NBN):c.697A>T (p.Lys233Ter)
|
rs1554564205
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.6G>A (p.Trp2Ter)
|
rs876661130
|
|
NM_002485.5(NBN):c.702+1G>T
|
rs1057517104
|
|
NM_002485.5(NBN):c.703-3T>C
|
rs876659566
|
|
NM_002485.5(NBN):c.706A>G (p.Lys236Glu)
|
rs1060503482
|
|
NM_002485.5(NBN):c.712T>C (p.Leu238=)
|
rs748400884
|
|
NM_002485.5(NBN):c.715A>C (p.Ser239Arg)
|
rs587781868
|
|
NM_002485.5(NBN):c.721G>C (p.Ala241Pro)
|
rs587781333
|
|
NM_002485.5(NBN):c.724G>C (p.Val242Leu)
|
rs1434146100
|
|
NM_002485.5(NBN):c.736G>A (p.Gly246Ser)
|
rs1064793212
|
|
NM_002485.5(NBN):c.741G>A (p.Gly247=)
|
rs747021126
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
NM_002485.5(NBN):c.745G>A (p.Ala249Thr)
|
rs2129830740
|
|
NM_002485.5(NBN):c.746C>A (p.Ala249Asp)
|
rs2129830699
|
|
NM_002485.5(NBN):c.750G>A (p.Arg250=)
|
rs758852942
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
NM_002485.5(NBN):c.75dup (p.Val26fs)
|
rs1199711768
|
|
NM_002485.5(NBN):c.765G>C (p.Glu255Asp)
|
rs2129830286
|
|
NM_002485.5(NBN):c.778C>T (p.His260Tyr)
|
rs767013459
|
|
NM_002485.5(NBN):c.782A>T (p.Asn261Ile)
|
rs1811461476
|
|
NM_002485.5(NBN):c.800dup (p.Thr268fs)
|
rs1554563955
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
NM_002485.5(NBN):c.817_848dup (p.Pro283_Asp284insGlnGluTer)
|
rs876661254
|
|
NM_002485.5(NBN):c.817dup (p.Thr273fs)
|
rs730881839
|
|
NM_002485.5(NBN):c.836A>G (p.Gln279Arg)
|
rs864622116
|
|
NM_002485.5(NBN):c.839C>T (p.Thr280Ile)
|
rs2129828243
|
|
NM_002485.5(NBN):c.864A>G (p.Lys288=)
|
rs1554563842
|
|
NM_002485.5(NBN):c.872dup (p.Ser292fs)
|
rs1563559078
|
|
NM_002485.5(NBN):c.873G>A (p.Gln291=)
|
rs786202939
|
|
NM_002485.5(NBN):c.880A>T (p.Met294Leu)
|
rs746381477
|
|
NM_002485.5(NBN):c.888G>A (p.Met296Ile)
|
|
|
NM_002485.5(NBN):c.896+10dup
|
rs763938484
|
|
NM_002485.5(NBN):c.896+13T>C
|
rs376695206
|
|
NM_002485.5(NBN):c.896+24dup
|
rs13312882
|
|
NM_002485.5(NBN):c.896+30_896+31insA
|
rs2129826487
|
|
NM_002485.5(NBN):c.897-18dup
|
rs957902993
|
|
NM_002485.5(NBN):c.897G>T (p.Arg299Ser)
|
rs779798363
|
|
NM_002485.5(NBN):c.902G>T (p.Gly301Val)
|
rs749857140
|
|
NM_002485.5(NBN):c.914T>C (p.Ile305Thr)
|
rs1586076225
|
|
NM_002485.5(NBN):c.924A>G (p.Ala308=)
|
rs1554562173
|
|
NM_002485.5(NBN):c.925G>A (p.Glu309Lys)
|
rs587780101
|
|
NM_002485.5(NBN):c.932G>A (p.Gly311Glu)
|
rs1563548856
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002485.5(NBN):c.942G>A (p.Val314=)
|
rs749757928
|
|
NM_002485.5(NBN):c.955A>G (p.Thr319Ala)
|
rs876659969
|
|
NM_002485.5(NBN):c.956del (p.Thr319fs)
|
rs1586075954
|
|
NM_002485.5(NBN):c.968G>A (p.Cys323Tyr)
|
rs730881848
|
|
NM_002485.5(NBN):c.974del (p.Pro325fs)
|
rs1554562110
|
|
NM_002485.5(NBN):c.976C>G (p.Gln326Glu)
|
rs121908973
|
|
NM_002485.5(NBN):c.994+1G>T
|
rs1554562083
|
|
NM_002485.5(NBN):c.994+3A>C
|
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|