NM_002485.5(NBN):c.1197T>C (p.Asp399=)
|
rs709816
|
0.51063
|
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.102G>A (p.Leu34=)
|
rs1063045
|
0.32752
|
NM_002485.5(NBN):c.1915-7A>G
|
rs2308962
|
0.32733
|
NM_002485.5(NBN):c.994+233G>A
|
rs6990969
|
0.32471
|
NM_002485.5(NBN):c.*1209A>C
|
rs1063054
|
0.31611
|
NM_002485.5(NBN):c.*1754T>C
|
rs9995
|
0.31588
|
NM_002485.5(NBN):c.*541G>C
|
rs2735383
|
0.31125
|
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.1124+18C>T
|
rs2234744
|
0.30095
|
NM_002485.5(NBN):c.2016A>G (p.Pro672=)
|
rs1061302
|
0.30090
|
NM_002485.5(NBN):c.*1977T>C
|
rs14448
|
0.19329
|
NM_002485.5(NBN):c.*1961T>C
|
rs13312987
|
0.07113
|
NM_002485.5(NBN):c.*757A>G
|
rs13312981
|
0.07109
|
NM_002485.5(NBN):c.703-18G>A
|
rs769418
|
0.03898
|
NM_002485.5(NBN):c.*937T>C
|
rs11987865
|
0.03004
|
NM_002485.5(NBN):c.*790T>G
|
rs11987887
|
0.03002
|
NM_002485.5(NBN):c.*1692A>G
|
rs13312986
|
0.02926
|
NM_002485.5(NBN):c.*2212G>A
|
rs10464867
|
0.02921
|
NM_002485.5(NBN):c.2082T>G (p.Pro694=)
|
rs7823648
|
0.02020
|
NM_002485.5(NBN):c.1914+9C>T
|
rs13312938
|
0.01874
|
NM_002485.5(NBN):c.*2129G>T
|
rs117807915
|
0.01258
|
NM_002485.5(NBN):c.*419C>T
|
rs13312979
|
0.01028
|
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.*1013G>A
|
rs13312984
|
0.00945
|
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)
|
rs72563785
|
0.00830
|
NM_002485.5(NBN):c.37+5G>A
|
rs116735828
|
0.00767
|
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala)
|
rs3026268
|
0.00711
|
NM_002485.5(NBN):c.*1222A>C
|
rs13312985
|
0.00662
|
NM_002485.5(NBN):c.*987T>G
|
rs78935210
|
0.00547
|
NM_002485.5(NBN):c.37+11A>G
|
rs115032431
|
0.00540
|
NM_002485.5(NBN):c.*401C>G
|
rs104895030
|
0.00535
|
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)
|
rs115321485
|
0.00466
|
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.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
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.*1823T>C
|
rs556606685
|
0.00134
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
NM_002485.5(NBN):c.*2188T>C
|
rs190894937
|
0.00097
|
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.*504A>G
|
rs3780123
|
0.00044
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
NM_002485.5(NBN):c.*2206C>T
|
rs547081912
|
0.00035
|
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.*2059A>C
|
rs755199398
|
0.00014
|
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.*983G>A
|
rs13312983
|
0.00013
|
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.1914+10G>A
|
rs577706448
|
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.*522T>C
|
rs886063164
|
0.00009
|
NM_002485.5(NBN):c.*829T>A
|
rs752958453
|
0.00009
|
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.*1287A>G
|
rs989124878
|
0.00007
|
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_002485.4(NBN):c.*2252T>A
|
rs1002146586
|
0.00006
|
NM_002485.5(NBN):c.*638G>A
|
rs976356195
|
0.00006
|
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr)
|
rs551602980
|
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.994+11C>T
|
rs377076593
|
0.00006
|
NM_002485.5(NBN):c.1280C>G (p.Pro427Arg)
|
rs778881191
|
0.00005
|
NM_002485.5(NBN):c.1454C>T (p.Thr485Met)
|
rs200891292
|
0.00005
|
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe)
|
rs572568222
|
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.1027T>C (p.Ser343Pro)
|
rs530636519
|
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.147T>G (p.Thr49=)
|
rs749206453
|
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.481-4G>A
|
rs754864893
|
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.994+9A>G
|
rs559438888
|
0.00004
|
NM_002485.5(NBN):c.*485A>G
|
rs886063165
|
0.00003
|
NM_002485.5(NBN):c.1255A>T (p.Asn419Tyr)
|
rs730881849
|
0.00003
|
NM_002485.5(NBN):c.139G>A (p.Val47Met)
|
rs876658446
|
0.00003
|
NM_002485.5(NBN):c.1419A>G (p.Gln473=)
|
rs587780535
|
0.00003
|
NM_002485.5(NBN):c.1789A>G (p.Ile597Val)
|
rs864622167
|
0.00003
|
NM_002485.5(NBN):c.2002A>G (p.Thr668Ala)
|
rs138913151
|
0.00003
|
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr)
|
rs186371605
|
0.00003
|
NM_002485.5(NBN):c.207A>G (p.Lys69=)
|
rs754352569
|
0.00003
|
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)
|
rs370058152
|
0.00003
|
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu)
|
rs767523514
|
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.335C>T (p.Pro112Leu)
|
rs759723870
|
0.00003
|
NM_002485.5(NBN):c.37G>A (p.Gly13Arg)
|
rs757112911
|
0.00003
|
NM_002485.5(NBN):c.480+20C>G
|
rs371204291
|
0.00003
|
NM_002485.5(NBN):c.495C>G (p.Leu165=)
|
rs764290829
|
0.00003
|
NM_002485.5(NBN):c.509C>T (p.Pro170Leu)
|
rs587782411
|
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.995-18T>G
|
rs1165001297
|
0.00003
|
NM_002485.5(NBN):c.*123T>A
|
rs886063167
|
0.00002
|
NM_002485.5(NBN):c.*1267A>G
|
rs1356012750
|
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.1204A>G (p.Thr402Ala)
|
rs201373377
|
0.00002
|
NM_002485.5(NBN):c.120G>T (p.Ser40=)
|
rs774989816
|
0.00002
|
NM_002485.5(NBN):c.133C>G (p.His45Asp)
|
rs773865323
|
0.00002
|
NM_002485.5(NBN):c.1430C>T (p.Ser477Leu)
|
rs767123014
|
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.1591A>G (p.Ile531Val)
|
rs587782330
|
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.177A>G (p.Gln59=)
|
rs758457183
|
0.00002
|
NM_002485.5(NBN):c.1845+3A>G
|
rs587780777
|
0.00002
|
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys)
|
rs766602873
|
0.00002
|
NM_002485.5(NBN):c.1871G>A (p.Arg624His)
|
rs587782297
|
0.00002
|
NM_002485.5(NBN):c.1893A>G (p.Leu631=)
|
rs778364604
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_002485.5(NBN):c.1914+16T>C
|
rs755194571
|
0.00002
|
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg)
|
rs587781547
|
0.00002
|
NM_002485.5(NBN):c.193G>A (p.Val65Ile)
|
rs778998026
|
0.00002
|
NM_002485.5(NBN):c.1961T>G (p.Leu654Arg)
|
rs758728938
|
0.00002
|
NM_002485.5(NBN):c.2015C>T (p.Pro672Leu)
|
rs6413508
|
0.00002
|
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)
|
rs730881856
|
0.00002
|
NM_002485.5(NBN):c.2036A>G (p.Tyr679Cys)
|
rs370295427
|
0.00002
|
NM_002485.5(NBN):c.2070+4G>A
|
rs876660950
|
0.00002
|
NM_002485.5(NBN):c.2086G>A (p.Ala696Thr)
|
rs749276965
|
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.251A>G (p.Gln84Arg)
|
rs762702597
|
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.549A>T (p.Ala183=)
|
rs780661058
|
0.00002
|
NM_002485.5(NBN):c.657A>G (p.Lys219=)
|
rs745768664
|
0.00002
|
NM_002485.5(NBN):c.663C>T (p.Ile221=)
|
rs372705975
|
0.00002
|
NM_002485.5(NBN):c.702+13T>C
|
rs781303760
|
0.00002
|
NM_002485.5(NBN):c.702+15A>G
|
rs900872637
|
0.00002
|
NM_002485.5(NBN):c.775G>A (p.Glu259Lys)
|
rs201559159
|
0.00002
|
NM_002485.5(NBN):c.896+14C>A
|
rs1468311992
|
0.00002
|
NM_002485.5(NBN):c.902G>A (p.Gly301Asp)
|
rs749857140
|
0.00002
|
NM_002485.5(NBN):c.911C>T (p.Pro304Leu)
|
rs536965870
|
0.00002
|
NM_002485.5(NBN):c.929T>C (p.Ile310Thr)
|
rs753812768
|
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.995-16C>T
|
rs777288661
|
0.00002
|
NM_002485.5(NBN):c.995-17A>G
|
rs372875251
|
0.00002
|
NM_002485.5(NBN):c.*352C>G
|
rs13312978
|
0.00001
|
NM_002485.5(NBN):c.-7C>A
|
rs1210776869
|
0.00001
|
NM_002485.5(NBN):c.1009A>G (p.Thr337Ala)
|
rs1554560492
|
0.00001
|
NM_002485.5(NBN):c.1010C>T (p.Thr337Ile)
|
rs1335655343
|
0.00001
|
NM_002485.5(NBN):c.1012C>A (p.Pro338Thr)
|
rs1554560467
|
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.1065C>T (p.Ser355=)
|
rs876659205
|
0.00001
|
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr)
|
rs777259845
|
0.00001
|
NM_002485.5(NBN):c.1076A>G (p.Asn359Ser)
|
rs768886664
|
0.00001
|
NM_002485.5(NBN):c.1078A>G (p.Thr360Ala)
|
rs1307700838
|
0.00001
|
NM_002485.5(NBN):c.1090G>A (p.Val364Ile)
|
rs765403660
|
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+7C>T
|
rs1060504929
|
0.00001
|
NM_002485.5(NBN):c.1124+9T>G
|
rs864622466
|
0.00001
|
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter)
|
rs1394437421
|
0.00001
|
NM_002485.5(NBN):c.1125-11T>G
|
rs1373365760
|
0.00001
|
NM_002485.5(NBN):c.1125-12C>G
|
rs1810676263
|
0.00001
|
NM_002485.5(NBN):c.112G>C (p.Asp38His)
|
rs876659565
|
0.00001
|
NM_002485.5(NBN):c.1147G>A (p.Glu383Lys)
|
rs772909239
|
0.00001
|
NM_002485.5(NBN):c.1152C>G (p.Ile384Met)
|
rs551802153
|
0.00001
|
NM_002485.5(NBN):c.1154A>G (p.Lys385Arg)
|
rs769453547
|
0.00001
|
NM_002485.5(NBN):c.1163A>G (p.Lys388Arg)
|
rs947104724
|
0.00001
|
NM_002485.5(NBN):c.1173A>G (p.Gln391=)
|
rs780602705
|
0.00001
|
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu)
|
rs941732827
|
0.00001
|
NM_002485.5(NBN):c.1193A>G (p.Gln398Arg)
|
rs746965070
|
0.00001
|
NM_002485.5(NBN):c.1195G>A (p.Asp399Asn)
|
rs1430248021
|
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.1239T>C (p.Asn413=)
|
rs1563531944
|
0.00001
|
NM_002485.5(NBN):c.123del (p.Ser42fs)
|
rs587781891
|
0.00001
|
NM_002485.5(NBN):c.1247T>C (p.Met416Thr)
|
rs863224713
|
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.1285T>G (p.Tyr429Asp)
|
rs587782409
|
0.00001
|
NM_002485.5(NBN):c.128G>A (p.Arg43Gln)
|
rs759146120
|
0.00001
|
NM_002485.5(NBN):c.1299A>G (p.Pro433=)
|
rs1161505808
|
0.00001
|
NM_002485.5(NBN):c.1315A>G (p.Ile439Val)
|
rs752837508
|
0.00001
|
NM_002485.5(NBN):c.1321A>G (p.Lys441Glu)
|
rs751876787
|
0.00001
|
NM_002485.5(NBN):c.1322A>G (p.Lys441Arg)
|
rs1329281031
|
0.00001
|
NM_002485.5(NBN):c.1334G>C (p.Arg445Thr)
|
rs1448696637
|
0.00001
|
NM_002485.5(NBN):c.134A>G (p.His45Arg)
|
rs1554569059
|
0.00001
|
NM_002485.5(NBN):c.1351C>G (p.Gln451Glu)
|
rs1011573169
|
0.00001
|
NM_002485.5(NBN):c.1359C>A (p.Asn453Lys)
|
rs1412358437
|
0.00001
|
NM_002485.5(NBN):c.135T>A (p.His45Gln)
|
rs770618624
|
0.00001
|
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr)
|
rs587780774
|
0.00001
|
NM_002485.5(NBN):c.136G>C (p.Ala46Pro)
|
rs1812129847
|
0.00001
|
NM_002485.5(NBN):c.1383G>A (p.Pro461=)
|
rs886063169
|
0.00001
|
NM_002485.5(NBN):c.1397+3C>G
|
rs876660481
|
0.00001
|
NM_002485.5(NBN):c.1397+7T>G
|
rs1554558986
|
0.00001
|
NM_002485.5(NBN):c.1398-14T>A
|
rs774489464
|
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.1402A>G (p.Arg468Gly)
|
rs769862680
|
0.00001
|
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser)
|
rs730881851
|
0.00001
|
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly)
|
rs878854505
|
0.00001
|
NM_002485.5(NBN):c.1415A>G (p.Asn472Ser)
|
rs750711786
|
0.00001
|
NM_002485.5(NBN):c.1455G>A (p.Thr485=)
|
rs772864909
|
0.00001
|
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)
|
rs143948240
|
0.00001
|
NM_002485.5(NBN):c.146C>T (p.Thr49Ile)
|
rs1450189149
|
0.00001
|
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys)
|
rs776900339
|
0.00001
|
NM_002485.5(NBN):c.1480C>A (p.Gln494Lys)
|
rs587781557
|
0.00001
|
NM_002485.5(NBN):c.1481A>C (p.Gln494Pro)
|
rs1381248118
|
0.00001
|
NM_002485.5(NBN):c.1494C>T (p.Pro498=)
|
rs1554558484
|
0.00001
|
NM_002485.5(NBN):c.153C>A (p.Asn51Lys)
|
rs876661214
|
0.00001
|
NM_002485.5(NBN):c.1547C>T (p.Thr516Ile)
|
rs754706758
|
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.1567T>C (p.Phe523Leu)
|
rs1554558419
|
0.00001
|
NM_002485.5(NBN):c.156T>C (p.Phe52=)
|
rs777925415
|
0.00001
|
NM_002485.5(NBN):c.1570A>G (p.Thr524Ala)
|
rs1292640945
|
0.00001
|
NM_002485.5(NBN):c.1580A>T (p.Asp527Val)
|
rs1554558407
|
0.00001
|
NM_002485.5(NBN):c.15G>A (p.Leu5=)
|
rs1363180098
|
0.00001
|
NM_002485.5(NBN):c.15G>C (p.Leu5=)
|
rs1363180098
|
0.00001
|
NM_002485.5(NBN):c.1618C>T (p.His540Tyr)
|
rs1554558393
|
0.00001
|
NM_002485.5(NBN):c.1619A>G (p.His540Arg)
|
rs730881852
|
0.00001
|
NM_002485.5(NBN):c.1628A>G (p.Glu543Gly)
|
rs587781624
|
0.00001
|
NM_002485.5(NBN):c.1642A>C (p.Asn548His)
|
rs772234785
|
0.00001
|
NM_002485.5(NBN):c.1648A>G (p.Lys550Glu)
|
rs1468125809
|
0.00001
|
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys)
|
rs1586053587
|
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.1695G>A (p.Gln565=)
|
rs557356152
|
0.00001
|
NM_002485.5(NBN):c.1703A>G (p.Lys568Arg)
|
rs1488036998
|
0.00001
|
NM_002485.5(NBN):c.170T>C (p.Leu57Pro)
|
rs747920256
|
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+3A>G
|
rs1487002693
|
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.172-12C>G
|
rs1363297893
|
0.00001
|
NM_002485.5(NBN):c.172-3C>T
|
rs587781620
|
0.00001
|
NM_002485.5(NBN):c.1730A>T (p.Asp577Val)
|
rs1341969209
|
0.00001
|
NM_002485.5(NBN):c.1735A>G (p.Lys579Glu)
|
rs993110145
|
0.00001
|
NM_002485.5(NBN):c.1737A>G (p.Lys579=)
|
rs753582962
|
0.00001
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)
|
rs763926389
|
0.00001
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
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.1770A>T (p.Arg590Ser)
|
rs1586053003
|
0.00001
|
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys)
|
rs774324419
|
0.00001
|
NM_002485.5(NBN):c.1841T>C (p.Ile614Thr)
|
rs1586052647
|
0.00001
|
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)
|
rs746632073
|
0.00001
|
NM_002485.5(NBN):c.1845+13T>C
|
rs1339779522
|
0.00001
|
NM_002485.5(NBN):c.1845+6T>C
|
rs1033050295
|
0.00001
|
NM_002485.5(NBN):c.1848A>G (p.Gln616=)
|
rs587782269
|
0.00001
|
NM_002485.5(NBN):c.1856A>C (p.Glu619Ala)
|
rs763546746
|
0.00001
|
NM_002485.5(NBN):c.1858A>G (p.Ile620Val)
|
rs1810270999
|
0.00001
|
NM_002485.5(NBN):c.1865A>G (p.Lys622Arg)
|
rs1381148233
|
0.00001
|
NM_002485.5(NBN):c.1866G>C (p.Lys622Asn)
|
rs587782221
|
0.00001
|
NM_002485.5(NBN):c.1873G>A (p.Glu625Lys)
|
rs369049359
|
0.00001
|
NM_002485.5(NBN):c.1877T>G (p.Leu626Arg)
|
rs1237629649
|
0.00001
|
NM_002485.5(NBN):c.1888T>C (p.Ser630Pro)
|
rs377132067
|
0.00001
|
NM_002485.5(NBN):c.1890A>C (p.Ser630=)
|
rs587780778
|
0.00001
|
NM_002485.5(NBN):c.1902T>G (p.Ala634=)
|
rs876660052
|
0.00001
|
NM_002485.5(NBN):c.1910T>A (p.Ile637Lys)
|
rs876658613
|
0.00001
|
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)
|
rs199657566
|
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.195A>G (p.Val65=)
|
rs1385971118
|
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.19G>A (p.Ala7Thr)
|
rs587780779
|
0.00001
|
NM_002485.5(NBN):c.2000C>T (p.Ser667Phe)
|
rs374638426
|
0.00001
|
NM_002485.5(NBN):c.2007C>T (p.Ser669=)
|
rs200399787
|
0.00001
|
NM_002485.5(NBN):c.2012A>G (p.Asn671Ser)
|
rs1563513183
|
0.00001
|
NM_002485.5(NBN):c.2023A>G (p.Ile675Val)
|
rs1586040318
|
0.00001
|
NM_002485.5(NBN):c.2037T>C (p.Tyr679=)
|
rs864622555
|
0.00001
|
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser)
|
rs200564603
|
0.00001
|
NM_002485.5(NBN):c.2061A>G (p.Lys687=)
|
rs758675398
|
0.00001
|
NM_002485.5(NBN):c.2070+15T>G
|
rs764467759
|
0.00001
|
NM_002485.5(NBN):c.2070+2del
|
rs1057517075
|
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.2071G>A (p.Val691Ile)
|
rs772059959
|
0.00001
|
NM_002485.5(NBN):c.2073C>T (p.Val691=)
|
rs876658178
|
0.00001
|
NM_002485.5(NBN):c.2099C>G (p.Pro700Arg)
|
rs1367898317
|
0.00001
|
NM_002485.5(NBN):c.2115A>G (p.Gly705=)
|
rs1173178388
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.2122C>G (p.Leu708Val)
|
rs756580887
|
0.00001
|
NM_002485.5(NBN):c.2129C>T (p.Ala710Val)
|
rs1060503454
|
0.00001
|
NM_002485.5(NBN):c.2132A>T (p.His711Leu)
|
rs1810035825
|
0.00001
|
NM_002485.5(NBN):c.2134C>A (p.His712Asn)
|
rs781520763
|
0.00001
|
NM_002485.5(NBN):c.2134C>T (p.His712Tyr)
|
rs781520763
|
0.00001
|
NM_002485.5(NBN):c.2136T>C (p.His712=)
|
rs1429343146
|
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.2174A>G (p.Gln725Arg)
|
rs878854510
|
0.00001
|
NM_002485.5(NBN):c.2176G>A (p.Glu726Lys)
|
rs1421870412
|
0.00001
|
NM_002485.5(NBN):c.2184+1G>T
|
rs756363734
|
0.00001
|
NM_002485.5(NBN):c.2184+7A>G
|
rs200812782
|
0.00001
|
NM_002485.5(NBN):c.2185-12T>G
|
rs373516568
|
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.2197C>G (p.His733Asp)
|
rs1311278427
|
0.00001
|
NM_002485.5(NBN):c.2201C>T (p.Ala734Val)
|
rs751824753
|
0.00001
|
NM_002485.5(NBN):c.2211G>A (p.Glu737=)
|
rs753596803
|
0.00001
|
NM_002485.5(NBN):c.2234+14C>G
|
rs763071338
|
0.00001
|
NM_002485.5(NBN):c.2234+2T>G
|
rs142301194
|
0.00001
|
NM_002485.5(NBN):c.2234+9T>G
|
rs1446505128
|
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.2235-9T>C
|
rs1162154079
|
0.00001
|
NM_002485.5(NBN):c.2235A>G (p.Arg745=)
|
rs754865465
|
0.00001
|
NM_002485.5(NBN):c.2244T>A (p.Pro748=)
|
rs1554553884
|
0.00001
|
NM_002485.5(NBN):c.2247T>C (p.Tyr749=)
|
rs762740478
|
0.00001
|
NM_002485.5(NBN):c.243A>G (p.Glu81=)
|
rs786203921
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.286G>A (p.Gly96Ser)
|
rs730882133
|
0.00001
|
NM_002485.5(NBN):c.296T>A (p.Phe99Tyr)
|
rs1187898389
|
0.00001
|
NM_002485.5(NBN):c.297T>C (p.Phe99=)
|
rs1563580668
|
0.00001
|
NM_002485.5(NBN):c.306T>C (p.Phe102=)
|
rs1554568276
|
0.00001
|
NM_002485.5(NBN):c.320+16A>G
|
rs1461131932
|
0.00001
|
NM_002485.5(NBN):c.320+6A>G
|
rs757321173
|
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.321-8A>G
|
rs1586107521
|
0.00001
|
NM_002485.5(NBN):c.322A>G (p.Ile108Val)
|
rs1286492027
|
0.00001
|
NM_002485.5(NBN):c.323T>C (p.Ile108Thr)
|
rs775217949
|
0.00001
|
NM_002485.5(NBN):c.329A>G (p.Tyr110Cys)
|
rs1355269482
|
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.33A>C (p.Ala11=)
|
rs1554569661
|
0.00001
|
NM_002485.5(NBN):c.350C>T (p.Ser117Phe)
|
rs1060503468
|
0.00001
|
NM_002485.5(NBN):c.361G>C (p.Asp121His)
|
rs777916019
|
0.00001
|
NM_002485.5(NBN):c.362A>G (p.Asp121Gly)
|
rs770163751
|
0.00001
|
NM_002485.5(NBN):c.366C>T (p.Val122=)
|
rs748684665
|
0.00001
|
NM_002485.5(NBN):c.37+13G>A
|
rs1275233507
|
0.00001
|
NM_002485.5(NBN):c.37+17A>G
|
rs749712282
|
0.00001
|
NM_002485.5(NBN):c.37+3A>G
|
rs764356392
|
0.00001
|
NM_002485.5(NBN):c.37+7G>A
|
rs372850559
|
0.00001
|
NM_002485.5(NBN):c.370G>A (p.Gly124Arg)
|
rs1064794806
|
0.00001
|
NM_002485.5(NBN):c.38-11A>G
|
rs770165601
|
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.384A>G (p.Leu128=)
|
rs587780782
|
0.00001
|
NM_002485.5(NBN):c.390A>G (p.Gln130=)
|
rs146150499
|
0.00001
|
NM_002485.5(NBN):c.394A>G (p.Ile132Val)
|
rs756946899
|
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.427T>C (p.Trp143Arg)
|
rs770995856
|
0.00001
|
NM_002485.5(NBN):c.42A>C (p.Glu14Asp)
|
rs957561936
|
0.00001
|
NM_002485.5(NBN):c.432A>G (p.Thr144=)
|
rs886043003
|
0.00001
|
NM_002485.5(NBN):c.445C>T (p.His149Tyr)
|
rs1161054161
|
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.474C>T (p.Thr158=)
|
rs1563578527
|
0.00001
|
NM_002485.5(NBN):c.480+18T>C
|
rs1459034801
|
0.00001
|
NM_002485.5(NBN):c.481-18_481-17del
|
rs778286254
|
0.00001
|
NM_002485.5(NBN):c.481-19C>T
|
rs1563574425
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.481-9T>A
|
rs1563574400
|
0.00001
|
NM_002485.5(NBN):c.483A>G (p.Thr161=)
|
rs758276775
|
0.00001
|
NM_002485.5(NBN):c.484A>G (p.Ile162Val)
|
rs750594114
|
0.00001
|
NM_002485.5(NBN):c.490G>T (p.Ala164Ser)
|
rs786201252
|
0.00001
|
NM_002485.5(NBN):c.493C>A (p.Leu165Ile)
|
rs776810966
|
0.00001
|
NM_002485.5(NBN):c.500G>A (p.Cys167Tyr)
|
rs1060503464
|
0.00001
|
NM_002485.5(NBN):c.510A>G (p.Pro170=)
|
rs772311947
|
0.00001
|
NM_002485.5(NBN):c.514G>A (p.Val172Ile)
|
rs1586101456
|
0.00001
|
NM_002485.5(NBN):c.520C>A (p.Pro174Thr)
|
rs587778546
|
0.00001
|
NM_002485.5(NBN):c.522A>G (p.Pro174=)
|
rs1489530490
|
0.00001
|
NM_002485.5(NBN):c.525A>G (p.Glu175=)
|
rs769400631
|
0.00001
|
NM_002485.5(NBN):c.567G>A (p.Gln189=)
|
rs1203807404
|
0.00001
|
NM_002485.5(NBN):c.56T>G (p.Leu19Trp)
|
rs749263651
|
0.00001
|
NM_002485.5(NBN):c.57G>A (p.Leu19=)
|
rs1434720352
|
0.00001
|
NM_002485.5(NBN):c.584+19A>G
|
rs1187374555
|
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.585-5T>C
|
rs1586088968
|
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.621T>C (p.Ser207=)
|
rs876658177
|
0.00001
|
NM_002485.5(NBN):c.627T>C (p.Asn209=)
|
rs767520591
|
0.00001
|
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)
|
rs61753718
|
0.00001
|
NM_002485.5(NBN):c.646C>A (p.Gln216Lys)
|
rs769416
|
0.00001
|
NM_002485.5(NBN):c.649G>C (p.Glu217Gln)
|
rs760275251
|
0.00001
|
NM_002485.5(NBN):c.64G>A (p.Val22Ile)
|
rs369910645
|
0.00001
|
NM_002485.5(NBN):c.656A>G (p.Lys219Arg)
|
rs376951288
|
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.69G>A (p.Glu23=)
|
rs876659411
|
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.703C>T (p.His235Tyr)
|
rs1554564044
|
0.00001
|
NM_002485.5(NBN):c.719C>T (p.Ser240Phe)
|
rs1554564033
|
0.00001
|
NM_002485.5(NBN):c.72C>T (p.Tyr24=)
|
rs1001590969
|
0.00001
|
NM_002485.5(NBN):c.75T>G (p.Val25=)
|
rs1000181272
|
0.00001
|
NM_002485.5(NBN):c.772G>C (p.Glu258Gln)
|
rs922057169
|
0.00001
|
NM_002485.5(NBN):c.773A>G (p.Glu258Gly)
|
rs786203380
|
0.00001
|
NM_002485.5(NBN):c.777A>G (p.Glu259=)
|
rs876660469
|
0.00001
|
NM_002485.5(NBN):c.778C>A (p.His260Asn)
|
rs767013459
|
0.00001
|
NM_002485.5(NBN):c.783T>G (p.Asn261Lys)
|
rs375336614
|
0.00001
|
NM_002485.5(NBN):c.793G>A (p.Ala265Thr)
|
rs876658382
|
0.00001
|
NM_002485.5(NBN):c.796C>T (p.Pro266Ser)
|
rs762956906
|
0.00001
|
NM_002485.5(NBN):c.798G>A (p.Pro266=)
|
rs368786672
|
0.00001
|
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)
|
rs779098734
|
0.00001
|
NM_002485.5(NBN):c.800G>A (p.Gly267Glu)
|
rs747837246
|
0.00001
|
NM_002485.5(NBN):c.806G>A (p.Cys269Tyr)
|
rs768822147
|
0.00001
|
NM_002485.5(NBN):c.810T>G (p.Val270=)
|
rs1431420897
|
0.00001
|
NM_002485.5(NBN):c.815A>G (p.Asp272Gly)
|
rs730881847
|
0.00001
|
NM_002485.5(NBN):c.820G>A (p.Gly274Arg)
|
rs540837864
|
0.00001
|
NM_002485.5(NBN):c.826A>T (p.Thr276Ser)
|
rs1554563895
|
0.00001
|
NM_002485.5(NBN):c.827C>G (p.Thr276Arg)
|
rs864622304
|
0.00001
|
NM_002485.5(NBN):c.83G>A (p.Arg28Lys)
|
rs876658581
|
0.00001
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
NM_002485.5(NBN):c.865T>G (p.Trp289Gly)
|
rs1563559145
|
0.00001
|
NM_002485.5(NBN):c.877A>G (p.Ile293Val)
|
rs1283506577
|
0.00001
|
NM_002485.5(NBN):c.881T>C (p.Met294Thr)
|
rs779346343
|
0.00001
|
NM_002485.5(NBN):c.886A>G (p.Met296Val)
|
rs1241439290
|
0.00001
|
NM_002485.5(NBN):c.897G>A (p.Arg299=)
|
rs779798363
|
0.00001
|
NM_002485.5(NBN):c.92G>C (p.Cys31Ser)
|
rs1377520302
|
0.00001
|
NM_002485.5(NBN):c.937G>T (p.Ala313Ser)
|
rs876660584
|
0.00001
|
NM_002485.5(NBN):c.938C>T (p.Ala313Val)
|
rs730881862
|
0.00001
|
NM_002485.5(NBN):c.954T>A (p.Thr318=)
|
rs1554562137
|
0.00001
|
NM_002485.5(NBN):c.957A>G (p.Thr319=)
|
rs1586075933
|
0.00001
|
NM_002485.5(NBN):c.986C>T (p.Pro329Leu)
|
rs1386471248
|
0.00001
|
NM_002485.5(NBN):c.990T>C (p.Ser330=)
|
rs1482013266
|
0.00001
|
NM_002485.5(NBN):c.994+10G>A
|
rs753761865
|
0.00001
|
NM_002485.5(NBN):c.994+15A>G
|
rs1282981376
|
0.00001
|
NM_002485.5(NBN):c.994+5T>C
|
rs778254433
|
0.00001
|
NM_002485.5(NBN):c.995-15T>G
|
rs1563539377
|
0.00001
|
NC_000008.10:g.(?_90944564)_(90997899_?)dup
|
|
|
NC_000008.10:g.(?_90945564)_(90971082_?)dup
|
|
|
NC_000008.10:g.(?_90947800)_(90971092_?)dup
|
|
|
NC_000008.10:g.(?_90947800)_(90996799_?)dup
|
|
|
NC_000008.10:g.(?_90947804)_(90955600_?)dup
|
|
|
NC_000008.10:g.(?_90947804)_(90996795_?)dup
|
|
|
NC_000008.10:g.(?_90947810)_(90958533_?)dup
|
|
|
NC_000008.10:g.(?_90947810)_(90960130_?)del
|
|
|
NC_000008.10:g.(?_90947810)_(90967793_?)dup
|
|
|
NC_000008.10:g.(?_90947810)_(90976745_?)dup
|
|
|
NC_000008.10:g.(?_90955471)_(90958533_?)del
|
|
|
NC_000008.10:g.(?_90955471)_(90976745_?)del
|
|
|
NC_000008.10:g.(?_90955471)_(90983528_?)dup
|
|
|
NC_000008.10:g.(?_90955471)_(90996789_?)dup
|
|
|
NC_000008.10:g.(?_90958358)_(90960130_?)del
|
|
|
NC_000008.10:g.(?_90958358)_(90996789_?)dup
|
|
|
NC_000008.10:g.(?_90960042)_(90976745_?)del
|
|
|
NC_000008.10:g.(?_90965634)_(90971364_?)del
|
|
|
NC_000008.10:g.(?_90970943)_(90971092_?)dup
|
|
|
NC_000008.10:g.(?_90982582)_(90983528_?)del
|
|
|
NC_000008.10:g.(?_90982582)_(90990561_?)del
|
|
|
NC_000008.10:g.(?_90982582)_(90996789_?)dup
|
|
|
NC_000008.10:g.(?_90990438)_(90990561_?)del
|
|
|
NC_000008.10:g.(?_90992952)_(90993761_?)del
|
|
|
NC_000008.10:g.(?_90993593)_(90996789_?)dup
|
|
|
NC_000008.10:g.(?_90993597)_(90996795_?)dup
|
|
|
NC_000008.10:g.(?_90996743)_(90996789_?)del
|
|
|
NC_000008.11:g.(?_89921080)_(89984561_?)del
|
|
|
NC_000008.11:g.(?_89935041)_(90051917_?)dup
|
|
|
NC_000008.11:g.(?_89935572)_(89964517_?)dup
|
|
|
NC_000008.11:g.(?_89935572)_(89984571_?)del
|
|
|
NC_000008.11:g.(?_89935576)_(89937081_?)del
|
|
|
NC_000008.11:g.(?_89935576)_(89981529_?)del
|
|
|
NC_000008.11:g.(?_89935582)_(89937085_?)del
|
|
|
NC_000008.11:g.(?_89935582)_(89958864_?)dup
|
|
|
NC_000008.11:g.(?_89935582)_(89984561_?)del
|
|
|
NC_000008.11:g.(?_89935582)_(89984561_?)dup
|
|
|
NC_000008.11:g.(?_89946130)_(89946305_?)del
|
|
|
NC_000008.11:g.(?_89946130)_(89984571_?)dup
|
|
|
NC_000008.11:g.(?_89978210)_(89980903_?)del
|
|
|
NC_000008.11:g.(?_89978210)_(89984561_?)dup
|
|
|
NC_000008.11:g.(?_89978210)_(89984571_?)del
|
|
|
NC_000008.11:g.(?_89980724)_(89984571_?)del
|
|
|
NC_000008.11:g.(?_89980734)_(89984671_?)del
|
|
|
NC_000008.11:g.89955556del
|
rs2129722387
|
|
NC_000008.11:g.89984913_89984916del
|
rs36226237
|
|
NM_002485.4(NBN):c.(?_-1)_(*1_?)dup
|
|
|
NM_002485.4(NBN):c.2185-?_*(1_?)del
|
|
|
NM_002485.4(NBN):c.897-?_2184+?del
|
|
|
NM_002485.4(NBN):c.[1030C>T];[842T>G]
|
|
|
NM_002485.5(NBN):c.*1220C>G
|
rs1040887182
|
|
NM_002485.5(NBN):c.*1297T>G
|
rs547479870
|
|
NM_002485.5(NBN):c.*1400C>T
|
rs532490798
|
|
NM_002485.5(NBN):c.*1562A>G
|
rs1809551804
|
|
NM_002485.5(NBN):c.*1583G>A
|
rs139384734
|
|
NM_002485.5(NBN):c.*1642A>G
|
rs769415813
|
|
NM_002485.5(NBN):c.*1869_*1872del
|
rs886063163
|
|
NM_002485.5(NBN):c.*226T>C
|
rs886063166
|
|
NM_002485.5(NBN):c.*364_*393del
|
rs1554553737
|
|
NM_002485.5(NBN):c.*680A>G
|
rs1809594322
|
|
NM_002485.5(NBN):c.-2C>A
|
rs202104448
|
|
NM_002485.5(NBN):c.-3C>T
|
rs1276313619
|
|
NM_002485.5(NBN):c.-46C>A
|
rs751549166
|
|
NM_002485.5(NBN):c.1005A>G (p.Thr335=)
|
|
|
NM_002485.5(NBN):c.1005AAC[1] (p.Thr337del)
|
rs770500095
|
|
NM_002485.5(NBN):c.1005AAC[3] (p.Thr337dup)
|
rs770500095
|
|
NM_002485.5(NBN):c.1006A>G (p.Thr336Ala)
|
rs1554560506
|
|
NM_002485.5(NBN):c.1007C>T (p.Thr336Ile)
|
rs876660218
|
|
NM_002485.5(NBN):c.1008A>C (p.Thr336=)
|
|
|
NM_002485.5(NBN):c.1008A>T (p.Thr336=)
|
rs786201619
|
|
NM_002485.5(NBN):c.1011T>C (p.Thr337=)
|
|
|
NM_002485.5(NBN):c.1012C>T (p.Pro338Ser)
|
rs1554560467
|
|
NM_002485.5(NBN):c.1013C>T (p.Pro338Leu)
|
rs2129746873
|
|
NM_002485.5(NBN):c.1017A>C (p.Gly339=)
|
rs2129746806
|
|
NM_002485.5(NBN):c.1018C>G (p.Pro340Ala)
|
rs1586066127
|
|
NM_002485.5(NBN):c.1018C>T (p.Pro340Ser)
|
rs1586066127
|
|
NM_002485.5(NBN):c.101T>G (p.Leu34Arg)
|
rs1012390181
|
|
NM_002485.5(NBN):c.1022G>A (p.Ser341Asn)
|
|
|
NM_002485.5(NBN):c.1022G>T (p.Ser341Ile)
|
|
|
NM_002485.5(NBN):c.1024C>T (p.Leu342Phe)
|
rs587782656
|
|
NM_002485.5(NBN):c.1025T>G (p.Leu342Arg)
|
rs1810857038
|
|
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter)
|
rs1810856747
|
|
NM_002485.5(NBN):c.1028C>T (p.Ser343Leu)
|
rs1810856747
|
|
NM_002485.5(NBN):c.102G>T (p.Leu34=)
|
|
|
NM_002485.5(NBN):c.102_103delinsAT (p.Ile35Phe)
|
|
|
NM_002485.5(NBN):c.1031A>G (p.Gln344Arg)
|
rs2129746440
|
|
NM_002485.5(NBN):c.1032A>G (p.Gln344=)
|
rs1159161073
|
|
NM_002485.5(NBN):c.1034G>A (p.Gly345Asp)
|
rs587780089
|
|
NM_002485.5(NBN):c.1034G>C (p.Gly345Ala)
|
rs587780089
|
|
NM_002485.5(NBN):c.1035C>A (p.Gly345=)
|
rs146605798
|
|
NM_002485.5(NBN):c.1037T>C (p.Val346Ala)
|
rs2129746243
|
|
NM_002485.5(NBN):c.1038_1039dup (p.Ser347fs)
|
rs1554560432
|
|
NM_002485.5(NBN):c.1039T>C (p.Ser347Pro)
|
rs1563539035
|
|
NM_002485.5(NBN):c.103A>T (p.Ile35Phe)
|
rs2129925202
|
|
NM_002485.5(NBN):c.1041A>C (p.Ser347=)
|
rs1586065991
|
|
NM_002485.5(NBN):c.1042G>A (p.Val348Ile)
|
rs1586065979
|
|
NM_002485.5(NBN):c.1042G>C (p.Val348Leu)
|
|
|
NM_002485.5(NBN):c.1042G>T (p.Val348Phe)
|
|
|
NM_002485.5(NBN):c.1043T>C (p.Val348Ala)
|
rs876660929
|
|
NM_002485.5(NBN):c.1044del (p.Asp349fs)
|
|
|
NM_002485.5(NBN):c.1046A>T (p.Asp349Val)
|
rs876659431
|
|
NM_002485.5(NBN):c.1050A>G (p.Glu350=)
|
|
|
NM_002485.5(NBN):c.1053A>G (p.Lys351=)
|
rs1810854037
|
|
NM_002485.5(NBN):c.1054C>T (p.Leu352=)
|
rs1586065915
|
|
NM_002485.5(NBN):c.1057A>C (p.Met353Leu)
|
rs864622489
|
|
NM_002485.5(NBN):c.1057A>G (p.Met353Val)
|
rs864622489
|
|
NM_002485.5(NBN):c.1058T>C (p.Met353Thr)
|
rs1028462350
|
|
NM_002485.5(NBN):c.105T>A (p.Ile35=)
|
rs78870221
|
|
NM_002485.5(NBN):c.105T>C (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>G (p.Pro354Ala)
|
rs1064794336
|
|
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser)
|
rs1064794336
|
|
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu)
|
rs1354459986
|
|
NM_002485.5(NBN):c.1063A>T (p.Ser355Cys)
|
rs762376159
|
|
NM_002485.5(NBN):c.1064G>A (p.Ser355Asn)
|
|
|
NM_002485.5(NBN):c.1065C>A (p.Ser355Arg)
|
|
|
NM_002485.5(NBN):c.1066G>T (p.Ala356Ser)
|
|
|
NM_002485.5(NBN):c.1071A>C (p.Pro357=)
|
|
|
NM_002485.5(NBN):c.1071A>G (p.Pro357=)
|
rs1810852191
|
|
NM_002485.5(NBN):c.1071dup (p.Val358fs)
|
rs2129745554
|
|
NM_002485.5(NBN):c.1072del (p.Pro357_Val358insTer)
|
rs2129745511
|
|
NM_002485.5(NBN):c.1073T>G (p.Val358Gly)
|
rs1563538793
|
|
NM_002485.5(NBN):c.1077C>T (p.Asn359=)
|
rs2129745426
|
|
NM_002485.5(NBN):c.1078A>C (p.Thr360Pro)
|
rs1307700838
|
|
NM_002485.5(NBN):c.1079C>G (p.Thr360Ser)
|
rs879020505
|
|
NM_002485.5(NBN):c.1080T>C (p.Thr360=)
|
rs876660415
|
|
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala)
|
rs1563538728
|
|
NM_002485.5(NBN):c.1082C>T (p.Thr361Ile)
|
rs2129745254
|
|
NM_002485.5(NBN):c.1084A>G (p.Thr362Ala)
|
rs1810850707
|
|
NM_002485.5(NBN):c.1085C>T (p.Thr362Ile)
|
|
|
NM_002485.5(NBN):c.1086A>C (p.Thr362=)
|
rs876659734
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1090G>T (p.Val364Leu)
|
rs765403660
|
|
NM_002485.5(NBN):c.1092A>G (p.Val364=)
|
|
|
NM_002485.5(NBN):c.1095T>C (p.Ala365=)
|
rs1554560368
|
|
NM_002485.5(NBN):c.1097A>G (p.Asp366Gly)
|
rs2129744939
|
|
NM_002485.5(NBN):c.1099_1104del (p.Thr367_Glu368del)
|
|
|
NM_002485.5(NBN):c.109A>G (p.Asn37Asp)
|
rs876658411
|
|
NM_002485.5(NBN):c.10C>A (p.Leu4Met)
|
|
|
NM_002485.5(NBN):c.10C>G (p.Leu4Val)
|
rs1426394881
|
|
NM_002485.5(NBN):c.10C>T (p.Leu4=)
|
rs1426394881
|
|
NM_002485.5(NBN):c.1100C>G (p.Thr367Arg)
|
rs1586065643
|
|
NM_002485.5(NBN):c.1102G>C (p.Glu368Gln)
|
rs2129744825
|
|
NM_002485.5(NBN):c.1103A>G (p.Glu368Gly)
|
|
|
NM_002485.5(NBN):c.1104A>G (p.Glu368=)
|
|
|
NM_002485.5(NBN):c.1104_1109del (p.Ser369_Glu370del)
|
rs1425019959
|
|
NM_002485.5(NBN):c.1105T>C (p.Ser369Pro)
|
rs2129744768
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
NM_002485.5(NBN):c.1106C>T (p.Ser369Leu)
|
|
|
NM_002485.5(NBN):c.1107A>C (p.Ser369=)
|
rs1586065630
|
|
NM_002485.5(NBN):c.1107A>G (p.Ser369=)
|
rs1586065630
|
|
NM_002485.5(NBN):c.1107dup (p.Glu370fs)
|
rs2129744712
|
|
NM_002485.5(NBN):c.1108G>A (p.Glu370Lys)
|
|
|
NM_002485.5(NBN):c.1110G>A (p.Glu370=)
|
rs1586065611
|
|
NM_002485.5(NBN):c.1113A>G (p.Gln371=)
|
|
|
NM_002485.5(NBN):c.1114G>A (p.Ala372Thr)
|
rs1377878017
|
|
NM_002485.5(NBN):c.1115C>T (p.Ala372Val)
|
rs587781438
|
|
NM_002485.5(NBN):c.1116A>G (p.Ala372=)
|
rs1810848142
|
|
NM_002485.5(NBN):c.1118A>G (p.Asp373Gly)
|
rs1563538492
|
|
NM_002485.5(NBN):c.111T>A (p.Asn37Lys)
|
|
|
NM_002485.5(NBN):c.1120A>G (p.Thr374Ala)
|
rs1563538477
|
|
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile)
|
rs1174990974
|
|
NM_002485.5(NBN):c.1124+10C>T
|
rs2129744144
|
|
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+13C>T
|
|
|
NM_002485.5(NBN):c.1124+14A>G
|
|
|
NM_002485.5(NBN):c.1124+15T>C
|
|
|
NM_002485.5(NBN):c.1124+16del
|
|
|
NM_002485.5(NBN):c.1124+17_1124+18delinsTT
|
rs2129744080
|
|
NM_002485.5(NBN):c.1124+18C>G
|
|
|
NM_002485.5(NBN):c.1124+18_1124+19delinsTT
|
rs1554560320
|
|
NM_002485.5(NBN):c.1124+1G>A
|
rs1057517209
|
|
NM_002485.5(NBN):c.1124+1G>C
|
rs1057517209
|
|
NM_002485.5(NBN):c.1124+20G>C
|
|
|
NM_002485.5(NBN):c.1124+20G>T
|
|
|
NM_002485.5(NBN):c.1124+2T>G
|
rs1554560352
|
|
NM_002485.5(NBN):c.1124+4A>T
|
|
|
NM_002485.5(NBN):c.1124+5A>T
|
rs587782108
|
|
NM_002485.5(NBN):c.1124+6G>A
|
rs375862750
|
|
NM_002485.5(NBN):c.1124+8T>G
|
|
|
NM_002485.5(NBN):c.1124+91C>A
|
rs1805818
|
|
NM_002485.5(NBN):c.1124+9T>C
|
|
|
NM_002485.5(NBN):c.1124G>C (p.Trp375Ser)
|
rs1394437421
|
|
NM_002485.5(NBN):c.1125-12C>A
|
|
|
NM_002485.5(NBN):c.1125-13T>A
|
rs2129722556
|
|
NM_002485.5(NBN):c.1125-15T>C
|
rs2129722592
|
|
NM_002485.5(NBN):c.1125-16T>G
|
|
|
NM_002485.5(NBN):c.1125-17C>G
|
rs772466522
|
|
NM_002485.5(NBN):c.1125-1G>A
|
rs1057517102
|
|
NM_002485.5(NBN):c.1125-1G>C
|
|
|
NM_002485.5(NBN):c.1125-20A>G
|
|
|
NM_002485.5(NBN):c.1125-22_1125-15del
|
rs2129722609
|
|
NM_002485.5(NBN):c.1125-4A>G
|
rs1554559375
|
|
NM_002485.5(NBN):c.1125-7T>A
|
|
|
NM_002485.5(NBN):c.1125-7del
|
rs2129722492
|
|
NM_002485.5(NBN):c.1125-7dup
|
rs2129722492
|
|
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)
|
rs1057519588
|
|
NM_002485.5(NBN):c.1125G>C (p.Trp375Cys)
|
|
|
NM_002485.5(NBN):c.1129T>G (p.Leu377Val)
|
rs587780547
|
|
NM_002485.5(NBN):c.112G>T (p.Asp38Tyr)
|
|
|
NM_002485.5(NBN):c.1133G>C (p.Ser378Thr)
|
rs864622123
|
|
NM_002485.5(NBN):c.1136A>G (p.Glu379Gly)
|
rs1563532732
|
|
NM_002485.5(NBN):c.1138A>G (p.Arg380Gly)
|
rs1810674788
|
|
NM_002485.5(NBN):c.113A>T (p.Asp38Val)
|
rs2129925061
|
|
NM_002485.5(NBN):c.113_114insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGA (p.Asp38delinsGluAlaGlyArgGlyGlySerArgLeuTer)
|
rs2129925072
|
|
NM_002485.5(NBN):c.1140G>A (p.Arg380=)
|
rs762590883
|
|
NM_002485.5(NBN):c.1141C>A (p.Pro381Thr)
|
rs2129722201
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.1143A>G (p.Pro381=)
|
rs1554559361
|
|
NM_002485.5(NBN):c.1146A>C (p.Lys382Asn)
|
rs1554559357
|
|
NM_002485.5(NBN):c.1146A>G (p.Lys382=)
|
rs1554559357
|
|
NM_002485.5(NBN):c.1146del (p.Glu383fs)
|
rs1586059584
|
|
NM_002485.5(NBN):c.1147G>C (p.Glu383Gln)
|
rs772909239
|
|
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)
|
rs772909239
|
|
NM_002485.5(NBN):c.1153A>G (p.Lys385Glu)
|
rs1563532612
|
|
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs)
|
rs748513310
|
|
NM_002485.5(NBN):c.1155dup (p.Val386fs)
|
rs748513310
|
|
NM_002485.5(NBN):c.1156G>A (p.Val386Ile)
|
|
|
NM_002485.5(NBN):c.1156G>T (p.Val386Phe)
|
rs1586059509
|
|
NM_002485.5(NBN):c.1157T>G (p.Val386Gly)
|
rs1810672909
|
|
NM_002485.5(NBN):c.115C>A (p.Gln39Lys)
|
rs377730553
|
|
NM_002485.5(NBN):c.115C>G (p.Gln39Glu)
|
rs377730553
|
|
NM_002485.5(NBN):c.115C>T (p.Gln39Ter)
|
rs377730553
|
|
NM_002485.5(NBN):c.115del (p.Gln39fs)
|
rs864622511
|
|
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys)
|
rs747632184
|
|
NM_002485.5(NBN):c.1161C>T (p.Ser387=)
|
rs1042756575
|
|
NM_002485.5(NBN):c.1162A>G (p.Lys388Glu)
|
rs1252203605
|
|
NM_002485.5(NBN):c.1165dup (p.Met389fs)
|
rs2129721709
|
|
NM_002485.5(NBN):c.1166T>C (p.Met389Thr)
|
rs1810671504
|
|
NM_002485.5(NBN):c.1167G>A (p.Met389Ile)
|
|
|
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter)
|
rs2129721628
|
|
NM_002485.5(NBN):c.116A>G (p.Gln39Arg)
|
|
|
NM_002485.5(NBN):c.116A>T (p.Gln39Leu)
|
rs765551184
|
|
NM_002485.5(NBN):c.1170A>G (p.Glu390=)
|
rs1554559326
|
|
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter)
|
rs1554559323
|
|
NM_002485.5(NBN):c.1172A>G (p.Gln391Arg)
|
rs201958895
|
|
NM_002485.5(NBN):c.1176A>G (p.Lys392=)
|
|
|
NM_002485.5(NBN):c.1180A>C (p.Arg394=)
|
|
|
NM_002485.5(NBN):c.1180A>G (p.Arg394Gly)
|
rs1060503470
|
|
NM_002485.5(NBN):c.1181G>A (p.Arg394Lys)
|
rs1810670587
|
|
NM_002485.5(NBN):c.1181G>T (p.Arg394Ile)
|
|
|
NM_002485.5(NBN):c.1182A>G (p.Arg394=)
|
rs1586059412
|
|
NM_002485.5(NBN):c.1183A>G (p.Met395Val)
|
|
|
NM_002485.5(NBN):c.1184T>C (p.Met395Thr)
|
|
|
NM_002485.5(NBN):c.1187T>C (p.Leu396Pro)
|
rs182030463
|
|
NM_002485.5(NBN):c.1188T>C (p.Leu396=)
|
rs1554559312
|
|
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)
|
rs1554559308
|
|
NM_002485.5(NBN):c.1190C>G (p.Ser397Ter)
|
rs1554559308
|
|
NM_002485.5(NBN):c.1190C>T (p.Ser397Leu)
|
rs1554559308
|
|
NM_002485.5(NBN):c.1191A>G (p.Ser397=)
|
rs2129721280
|
|
NM_002485.5(NBN):c.1192C>T (p.Gln398Ter)
|
rs2129721263
|
|
NM_002485.5(NBN):c.1194A>C (p.Gln398His)
|
rs200046373
|
|
NM_002485.5(NBN):c.1194A>G (p.Gln398=)
|
rs200046373
|
|
NM_002485.5(NBN):c.1196A>G (p.Asp399Gly)
|
|
|
NM_002485.5(NBN):c.1197_1198delinsCT (p.Ala400Ser)
|
rs1064795318
|
|
NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr)
|
|
|
NM_002485.5(NBN):c.1198G>C (p.Ala400Pro)
|
rs551602980
|
|
NM_002485.5(NBN):c.1199C>G (p.Ala400Gly)
|
rs779218232
|
|
NM_002485.5(NBN):c.1199C>T (p.Ala400Val)
|
rs779218232
|
|
NM_002485.5(NBN):c.11T>C (p.Leu4Pro)
|
rs748090667
|
|
NM_002485.5(NBN):c.11T>G (p.Leu4Arg)
|
rs748090667
|
|
NM_002485.5(NBN):c.1200A>G (p.Ala400=)
|
rs2129720998
|
|
NM_002485.5(NBN):c.1201C>A (p.Pro401Thr)
|
|
|
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.1203_1206dup (p.Val403fs)
|
rs1810667631
|
|
NM_002485.5(NBN):c.1203del (p.Thr402fs)
|
|
|
NM_002485.5(NBN):c.1205_1209del (p.Thr402fs)
|
rs1563532144
|
|
NM_002485.5(NBN):c.1206T>C (p.Thr402=)
|
rs1810667513
|
|
NM_002485.5(NBN):c.1208T>A (p.Val403Glu)
|
rs1554559273
|
|
NM_002485.5(NBN):c.120G>A (p.Ser40=)
|
rs774989816
|
|
NM_002485.5(NBN):c.120G>C (p.Ser40=)
|
rs774989816
|
|
NM_002485.5(NBN):c.1210A>G (p.Lys404Glu)
|
rs761214266
|
|
NM_002485.5(NBN):c.1212G>A (p.Lys404=)
|
rs753212974
|
|
NM_002485.5(NBN):c.1213G>A (p.Glu405Lys)
|
rs1810666621
|
|
NM_002485.5(NBN):c.1215G>A (p.Glu405=)
|
|
|
NM_002485.5(NBN):c.1217C>A (p.Ser406Tyr)
|
rs1810666233
|
|
NM_002485.5(NBN):c.1218C>T (p.Ser406=)
|
|
|
NM_002485.5(NBN):c.1219T>A (p.Cys407Ser)
|
rs1060503460
|
|
NM_002485.5(NBN):c.121A>G (p.Ile41Val)
|
rs1563584220
|
|
NM_002485.5(NBN):c.121A>T (p.Ile41Phe)
|
rs1563584220
|
|
NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr)
|
rs1473253247
|
|
NM_002485.5(NBN):c.1221C>A (p.Cys407Ter)
|
|
|
NM_002485.5(NBN):c.1221C>G (p.Cys407Trp)
|
|
|
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)
|
|
|
NM_002485.5(NBN):c.1225A>G (p.Thr409Ala)
|
|
|
NM_002485.5(NBN):c.1225del (p.Thr409fs)
|
rs2129720423
|
|
NM_002485.5(NBN):c.1226C>T (p.Thr409Ile)
|
rs1810665559
|
|
NM_002485.5(NBN):c.1227A>G (p.Thr409=)
|
rs1554559251
|
|
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly)
|
rs1185542329
|
|
NM_002485.5(NBN):c.1229G>A (p.Ser410Asn)
|
rs982325971
|
|
NM_002485.5(NBN):c.1229G>T (p.Ser410Ile)
|
rs982325971
|
|
NM_002485.5(NBN):c.122T>C (p.Ile41Thr)
|
rs1554569074
|
|
NM_002485.5(NBN):c.1230C>G (p.Ser410Arg)
|
rs878854504
|
|
NM_002485.5(NBN):c.1230C>T (p.Ser410=)
|
rs878854504
|
|
NM_002485.5(NBN):c.1231T>C (p.Ser411Pro)
|
rs1563531982
|
|
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys)
|
rs551032019
|
|
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer)
|
rs2129720196
|
|
NM_002485.5(NBN):c.1235A>G (p.Asn412Ser)
|
|
|
NM_002485.5(NBN):c.1235ATA[2] (p.Asn414del)
|
rs1563531915
|
|
NM_002485.5(NBN):c.1236T>A (p.Asn412Lys)
|
|
|
NM_002485.5(NBN):c.1237A>G (p.Asn413Asp)
|
rs1810664293
|
|
NM_002485.5(NBN):c.123C>A (p.Ile41=)
|
rs887413615
|
|
NM_002485.5(NBN):c.123C>G (p.Ile41Met)
|
rs887413615
|
|
NM_002485.5(NBN):c.123C>T (p.Ile41=)
|
rs887413615
|
|
NM_002485.5(NBN):c.1241A>G (p.Asn414Ser)
|
rs1554559235
|
|
NM_002485.5(NBN):c.1242T>C (p.Asn414=)
|
rs864622135
|
|
NM_002485.5(NBN):c.1243A>C (p.Ser415Arg)
|
|
|
NM_002485.5(NBN):c.1243_1244insTTA (p.Asn414_Ser415insIle)
|
rs587781532
|
|
NM_002485.5(NBN):c.1244G>A (p.Ser415Asn)
|
rs764832388
|
|
NM_002485.5(NBN):c.1245T>C (p.Ser415=)
|
rs776180689
|
|
NM_002485.5(NBN):c.1245T>G (p.Ser415Arg)
|
rs776180689
|
|
NM_002485.5(NBN):c.1246A>T (p.Met416Leu)
|
rs1554559222
|
|
NM_002485.5(NBN):c.1248G>A (p.Met416Ile)
|
rs756572268
|
|
NM_002485.5(NBN):c.1249G>C (p.Val417Leu)
|
rs768087330
|
|
NM_002485.5(NBN):c.1249G>T (p.Val417Leu)
|
rs768087330
|
|
NM_002485.5(NBN):c.1250T>C (p.Val417Ala)
|
rs1554559216
|
|
NM_002485.5(NBN):c.1250T>G (p.Val417Gly)
|
rs1554559216
|
|
NM_002485.5(NBN):c.1251A>G (p.Val417=)
|
rs749316300
|
|
NM_002485.5(NBN):c.1253C>A (p.Ser418Ter)
|
rs1554559212
|
|
NM_002485.5(NBN):c.1253C>T (p.Ser418Leu)
|
rs1554559212
|
|
NM_002485.5(NBN):c.1254A>G (p.Ser418=)
|
rs2129719709
|
|
NM_002485.5(NBN):c.1255A>C (p.Asn419His)
|
rs730881849
|
|
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.1257T>C (p.Asn419=)
|
rs1586058905
|
|
NM_002485.5(NBN):c.1259C>G (p.Thr420Ser)
|
|
|
NM_002485.5(NBN):c.1260T>A (p.Thr420=)
|
rs1554559199
|
|
NM_002485.5(NBN):c.1261T>C (p.Leu421=)
|
rs2129719531
|
|
NM_002485.5(NBN):c.1264G>A (p.Ala422Thr)
|
rs1336243918
|
|
NM_002485.5(NBN):c.1264G>T (p.Ala422Ser)
|
rs1336243918
|
|
NM_002485.5(NBN):c.1265C>G (p.Ala422Gly)
|
rs1810660625
|
|
NM_002485.5(NBN):c.1266T>C (p.Ala422=)
|
rs2129719439
|
|
NM_002485.5(NBN):c.1268A>G (p.Lys423Arg)
|
rs1444306607
|
|
NM_002485.5(NBN):c.1269G>A (p.Lys423=)
|
rs2129719377
|
|
NM_002485.5(NBN):c.126C>T (p.Ser42=)
|
rs2129924815
|
|
NM_002485.5(NBN):c.1272G>A (p.Met424Ile)
|
|
|
NM_002485.5(NBN):c.1272G>T (p.Met424Ile)
|
|
|
NM_002485.5(NBN):c.1273A>C (p.Arg425=)
|
rs1554559177
|
|
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys)
|
rs1060503478
|
|
NM_002485.5(NBN):c.1274G>C (p.Arg425Thr)
|
rs1060503478
|
|
NM_002485.5(NBN):c.1275A>T (p.Arg425Ser)
|
rs916556331
|
|
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr)
|
rs1554559171
|
|
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)
|
rs786202302
|
|
NM_002485.5(NBN):c.1283A>T (p.Asn428Ile)
|
rs1406123091
|
|
NM_002485.5(NBN):c.1284C>G (p.Asn428Lys)
|
rs1586058745
|
|
NM_002485.5(NBN):c.1286A>C (p.Tyr429Ser)
|
rs370121348
|
|
NM_002485.5(NBN):c.1286A>G (p.Tyr429Cys)
|
rs370121348
|
|
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
|
|
|
NM_002485.5(NBN):c.1289A>G (p.Gln430Arg)
|
rs1563531531
|
|
NM_002485.5(NBN):c.128G>T (p.Arg43Leu)
|
rs759146120
|
|
NM_002485.5(NBN):c.1290G>C (p.Gln430His)
|
rs1554559149
|
|
NM_002485.5(NBN):c.1291C>T (p.Leu431Phe)
|
rs1586058701
|
|
NM_002485.5(NBN):c.1292_1297del (p.Leu431_Ser432del)
|
|
|
NM_002485.5(NBN):c.1293T>A (p.Leu431=)
|
rs2129718873
|
|
NM_002485.5(NBN):c.1295C>T (p.Ser432Leu)
|
rs1258938703
|
|
NM_002485.5(NBN):c.1296A>G (p.Ser432=)
|
rs1554559144
|
|
NM_002485.5(NBN):c.1298C>G (p.Pro433Arg)
|
rs1554559140
|
|
NM_002485.5(NBN):c.129A>C (p.Arg43=)
|
rs1327270687
|
|
NM_002485.5(NBN):c.129A>G (p.Arg43=)
|
rs1327270687
|
|
NM_002485.5(NBN):c.12G>A (p.Leu4=)
|
rs1812243844
|
|
NM_002485.5(NBN):c.1300A>C (p.Thr434Pro)
|
|
|
NM_002485.5(NBN):c.1301C>A (p.Thr434Asn)
|
rs757452107
|
|
NM_002485.5(NBN):c.1301C>G (p.Thr434Ser)
|
rs757452107
|
|
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile)
|
rs757452107
|
|
NM_002485.5(NBN):c.1307T>A (p.Leu436Ter)
|
|
|
NM_002485.5(NBN):c.1308G>A (p.Leu436=)
|
rs756208277
|
|
NM_002485.5(NBN):c.1309C>T (p.Pro437Ser)
|
rs1810656128
|
|
NM_002485.5(NBN):c.1311A>G (p.Pro437=)
|
|
|
NM_002485.5(NBN):c.1312A>G (p.Ser438Gly)
|
rs1456827107
|
|
NM_002485.5(NBN):c.1313G>A (p.Ser438Asn)
|
rs786203131
|
|
NM_002485.5(NBN):c.1313G>T (p.Ser438Ile)
|
rs786203131
|
|
NM_002485.5(NBN):c.1314T>C (p.Ser438=)
|
rs1057521491
|
|
NM_002485.5(NBN):c.1314del (p.Ser438fs)
|
|
|
NM_002485.5(NBN):c.1322A>C (p.Lys441Thr)
|
rs1329281031
|
|
NM_002485.5(NBN):c.1323A>G (p.Lys441=)
|
|
|
NM_002485.5(NBN):c.1324A>G (p.Ser442Gly)
|
rs1554559097
|
|
NM_002485.5(NBN):c.1327A>G (p.Lys443Glu)
|
rs1554559094
|
|
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)
|
rs1554559094
|
|
NM_002485.5(NBN):c.1331A>C (p.Asp444Ala)
|
rs1237800234
|
|
NM_002485.5(NBN):c.1332T>C (p.Asp444=)
|
rs1810653364
|
|
NM_002485.5(NBN):c.1332dup (p.Arg445Ter)
|
rs1586058444
|
|
NM_002485.5(NBN):c.1335G>A (p.Arg445=)
|
rs1554559085
|
|
NM_002485.5(NBN):c.1335G>C (p.Arg445Ser)
|
rs1554559085
|
|
NM_002485.5(NBN):c.1335G>T (p.Arg445Ser)
|
rs1554559085
|
|
NM_002485.5(NBN):c.1336G>A (p.Ala446Thr)
|
rs1586058411
|
|
NM_002485.5(NBN):c.1336del (p.Ala446fs)
|
rs1554559083
|
|
NM_002485.5(NBN):c.1338T>C (p.Ala446=)
|
rs1373132755
|
|
NM_002485.5(NBN):c.1338T>G (p.Ala446=)
|
rs1373132755
|
|
NM_002485.5(NBN):c.133C>T (p.His45Tyr)
|
rs773865323
|
|
NM_002485.5(NBN):c.1347G>A (p.Gln449=)
|
rs761492204
|
|
NM_002485.5(NBN):c.1349A>C (p.Gln450Pro)
|
rs776210901
|
|
NM_002485.5(NBN):c.1349A>G (p.Gln450Arg)
|
rs776210901
|
|
NM_002485.5(NBN):c.1350G>A (p.Gln450=)
|
rs2129717669
|
|
NM_002485.5(NBN):c.1352A>C (p.Gln451Pro)
|
rs1554559068
|
|
NM_002485.5(NBN):c.1352A>G (p.Gln451Arg)
|
rs1554559068
|
|
NM_002485.5(NBN):c.1352_1353delinsCC (p.Gln451Pro)
|
rs1554559065
|
|
NM_002485.5(NBN):c.1353G>A (p.Gln451=)
|
rs1554559063
|
|
NM_002485.5(NBN):c.1353G>C (p.Gln451His)
|
rs1554559063
|
|
NM_002485.5(NBN):c.1355C>T (p.Thr452Ile)
|
rs1810650900
|
|
NM_002485.5(NBN):c.1356C>T (p.Thr452=)
|
rs1402518842
|
|
NM_002485.5(NBN):c.1358A>C (p.Asn453Thr)
|
|
|
NM_002485.5(NBN):c.135T>C (p.His45=)
|
rs770618624
|
|
NM_002485.5(NBN):c.1362C>T (p.Ser454=)
|
rs587780775
|
|
NM_002485.5(NBN):c.1362dup (p.Ile455fs)
|
rs2129717307
|
|
NM_002485.5(NBN):c.1363A>G (p.Ile455Val)
|
rs1554559041
|
|
NM_002485.5(NBN):c.1365C>G (p.Ile455Met)
|
rs1810649752
|
|
NM_002485.5(NBN):c.1366A>G (p.Arg456Gly)
|
rs1586058203
|
|
NM_002485.5(NBN):c.1366del (p.Arg456fs)
|
rs1554559038
|
|
NM_002485.5(NBN):c.1368A>C (p.Arg456Ser)
|
rs1554559036
|
|
NM_002485.5(NBN):c.1368A>G (p.Arg456=)
|
rs1554559036
|
|
NM_002485.5(NBN):c.1369A>G (p.Asn457Asp)
|
rs1554559034
|
|
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser)
|
rs876659312
|
|
NM_002485.5(NBN):c.1374C>G (p.Tyr458Ter)
|
|
|
NM_002485.5(NBN):c.1374C>T (p.Tyr458=)
|
rs2129717018
|
|
NM_002485.5(NBN):c.1377T>G (p.Phe459Leu)
|
rs1397458119
|
|
NM_002485.5(NBN):c.1377dup (p.Gln460fs)
|
rs1554559028
|
|
NM_002485.5(NBN):c.1379A>G (p.Gln460Arg)
|
rs2129716929
|
|
NM_002485.5(NBN):c.1381C>T (p.Pro461Ser)
|
rs1554559015
|
|
NM_002485.5(NBN):c.1385C>T (p.Ser462Phe)
|
rs1563530730
|
|
NM_002485.5(NBN):c.1386T>C (p.Ser462=)
|
rs772094384
|
|
NM_002485.5(NBN):c.1387A>G (p.Thr463Ala)
|
rs745821964
|
|
NM_002485.5(NBN):c.1388C>T (p.Thr463Ile)
|
rs2129716704
|
|
NM_002485.5(NBN):c.1390A>G (p.Lys464Glu)
|
rs2129716633
|
|
NM_002485.5(NBN):c.1391A>G (p.Lys464Arg)
|
rs2129716605
|
|
NM_002485.5(NBN):c.1392A>G (p.Lys464=)
|
rs2129716580
|
|
NM_002485.5(NBN):c.1393A>G (p.Lys465Glu)
|
|
|
NM_002485.5(NBN):c.1393A>T (p.Lys465Ter)
|
rs1563530658
|
|
NM_002485.5(NBN):c.1394A>G (p.Lys465Arg)
|
|
|
NM_002485.5(NBN):c.1395A>G (p.Lys465=)
|
rs1213870507
|
|
NM_002485.5(NBN):c.1396A>C (p.Arg466=)
|
|
|
NM_002485.5(NBN):c.1396A>G (p.Arg466Gly)
|
rs1810646211
|
|
NM_002485.5(NBN):c.1396A>T (p.Arg466Trp)
|
|
|
NM_002485.5(NBN):c.1396del (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1396dup (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1397+10T>C
|
rs1554558985
|
|
NM_002485.5(NBN):c.1397+11G>A
|
|
|
NM_002485.5(NBN):c.1397+11G>T
|
|
|
NM_002485.5(NBN):c.1397+15A>G
|
rs2129716128
|
|
NM_002485.5(NBN):c.1397+16C>T
|
rs2129716112
|
|
NM_002485.5(NBN):c.1397+19C>T
|
|
|
NM_002485.5(NBN):c.1397+1G>A
|
|
|
NM_002485.5(NBN):c.1397+1_1397+3delinsACA
|
|
|
NM_002485.5(NBN):c.1397+1_1397+9del
|
rs2129716262
|
|
NM_002485.5(NBN):c.1397+1del
|
rs1060503467
|
|
NM_002485.5(NBN):c.1397+2T>A
|
rs730881850
|
|
NM_002485.5(NBN):c.1397+4T>C
|
rs770699381
|
|
NM_002485.5(NBN):c.1397+4T>G
|
rs770699381
|
|
NM_002485.5(NBN):c.1397+5G>C
|
rs1060503489
|
|
NM_002485.5(NBN):c.1397+6_1397+11del
|
|
|
NM_002485.5(NBN):c.1397+8T>C
|
rs2129716281
|
|
NM_002485.5(NBN):c.1397+9T>C
|
rs1810644919
|
|
NM_002485.5(NBN):c.1398-10T>C
|
rs539960851
|
|
NM_002485.5(NBN):c.1398-10del
|
rs587780555
|
|
NM_002485.5(NBN):c.1398-10dup
|
rs587780555
|
|
NM_002485.5(NBN):c.1398-13_1398-10del
|
rs587780555
|
|
NM_002485.5(NBN):c.1398-15T>A
|
|
|
NM_002485.5(NBN):c.1398-17T>C
|
|
|
NM_002485.5(NBN):c.1398-19C>G
|
|
|
NM_002485.5(NBN):c.1398-19_1398-17del
|
rs1297354269
|
|
NM_002485.5(NBN):c.1398-19del
|
|
|
NM_002485.5(NBN):c.1398-2A>G
|
rs2129704501
|
|
NM_002485.5(NBN):c.1398-4dup
|
rs2129704523
|
|
NM_002485.5(NBN):c.1398-5C>G
|
rs2129704548
|
|
NM_002485.5(NBN):c.1398-5C>T
|
|
|
NM_002485.5(NBN):c.1398-7A>G
|
rs1563527772
|
|
NM_002485.5(NBN):c.1398-8A>T
|
rs2129704576
|
|
NM_002485.5(NBN):c.1398-9A>G
|
rs773093849
|
|
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)
|
rs1554558613
|
|
NM_002485.5(NBN):c.139G>C (p.Val47Leu)
|
rs876658446
|
|
NM_002485.5(NBN):c.13C>G (p.Leu5Val)
|
rs1563588747
|
|
NM_002485.5(NBN):c.1401A>G (p.Glu467=)
|
rs2129704446
|
|
NM_002485.5(NBN):c.1403G>A (p.Arg468Lys)
|
rs781213350
|
|
NM_002485.5(NBN):c.1403G>C (p.Arg468Thr)
|
rs781213350
|
|
NM_002485.5(NBN):c.1404G>C (p.Arg468Ser)
|
rs730881851
|
|
NM_002485.5(NBN):c.1405G>A (p.Asp469Asn)
|
rs148205441
|
|
NM_002485.5(NBN):c.1405del (p.Asp469fs)
|
rs2129704309
|
|
NM_002485.5(NBN):c.1406A>G (p.Asp469Gly)
|
rs780365310
|
|
NM_002485.5(NBN):c.1409A>G (p.Glu470Gly)
|
rs876660501
|
|
NM_002485.5(NBN):c.1410A>G (p.Glu470=)
|
rs1554558592
|
|
NM_002485.5(NBN):c.1413A>C (p.Glu471Asp)
|
rs1554558584
|
|
NM_002485.5(NBN):c.1413A>G (p.Glu471=)
|
rs1554558584
|
|
NM_002485.5(NBN):c.1414A>T (p.Asn472Tyr)
|
rs2129704060
|
|
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)
|
rs755805461
|
|
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu)
|
rs755805461
|
|
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter)
|
rs755805461
|
|
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs)
|
rs864622333
|
|
NM_002485.5(NBN):c.141G>C (p.Val47=)
|
rs2129924554
|
|
NM_002485.5(NBN):c.141_142del (p.Leu48fs)
|
rs750375741
|
|
NM_002485.5(NBN):c.1423A>C (p.Met475Leu)
|
rs767106269
|
|
NM_002485.5(NBN):c.1423A>T (p.Met475Leu)
|
rs767106269
|
|
NM_002485.5(NBN):c.1424T>C (p.Met475Thr)
|
|
|
NM_002485.5(NBN):c.1425G>A (p.Met475Ile)
|
rs1180796619
|
|
NM_002485.5(NBN):c.1425G>C (p.Met475Ile)
|
rs1180796619
|
|
NM_002485.5(NBN):c.1429T>C (p.Ser477Pro)
|
rs1586054780
|
|
NM_002485.5(NBN):c.1431A>G (p.Ser477=)
|
rs759060729
|
|
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser)
|
rs1199013619
|
|
NM_002485.5(NBN):c.1432T>C (p.Cys478Arg)
|
rs1199013619
|
|
NM_002485.5(NBN):c.1432T>G (p.Cys478Gly)
|
rs1199013619
|
|
NM_002485.5(NBN):c.1434C>A (p.Cys478Ter)
|
|
|
NM_002485.5(NBN):c.1435A>C (p.Lys479Gln)
|
|
|
NM_002485.5(NBN):c.1436A>G (p.Lys479Arg)
|
rs786202028
|
|
NM_002485.5(NBN):c.1438T>C (p.Ser480Pro)
|
rs2129703628
|
|
NM_002485.5(NBN):c.143T>C (p.Leu48Ser)
|
|
|
NM_002485.5(NBN):c.143T>G (p.Leu48Ter)
|
rs2129924518
|
|
NM_002485.5(NBN):c.1441G>C (p.Ala481Pro)
|
rs2129703568
|
|
NM_002485.5(NBN):c.1442C>T (p.Ala481Val)
|
|
|
NM_002485.5(NBN):c.1443A>G (p.Ala481=)
|
rs751121403
|
|
NM_002485.5(NBN):c.1444A>G (p.Arg482Gly)
|
rs886063168
|
|
NM_002485.5(NBN):c.1445G>A (p.Arg482Lys)
|
rs775451862
|
|
NM_002485.5(NBN):c.1445G>T (p.Arg482Ile)
|
|
|
NM_002485.5(NBN):c.1448T>C (p.Ile483Thr)
|
rs876658347
|
|
NM_002485.5(NBN):c.1448T>G (p.Ile483Arg)
|
rs876658347
|
|
NM_002485.5(NBN):c.1449A>G (p.Ile483Met)
|
rs1586054662
|
|
NM_002485.5(NBN):c.144A>G (p.Leu48=)
|
rs1563584056
|
|
NM_002485.5(NBN):c.144_145del (p.Leu48fs)
|
|
|
NM_002485.5(NBN):c.1453A>G (p.Thr485Ala)
|
rs1586054649
|
|
NM_002485.5(NBN):c.1453A>T (p.Thr485Ser)
|
rs1586054649
|
|
NM_002485.5(NBN):c.1454C>A (p.Thr485Lys)
|
rs200891292
|
|
NM_002485.5(NBN):c.1455G>T (p.Thr485=)
|
|
|
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro)
|
rs587781380
|
|
NM_002485.5(NBN):c.1459T>C (p.Cys487Arg)
|
rs2129703194
|
|
NM_002485.5(NBN):c.1460G>A (p.Cys487Tyr)
|
rs587782118
|
|
NM_002485.5(NBN):c.1460G>T (p.Cys487Phe)
|
|
|
NM_002485.5(NBN):c.1463C>A (p.Ser488Tyr)
|
rs1060503472
|
|
NM_002485.5(NBN):c.1463C>G (p.Ser488Cys)
|
rs1060503472
|
|
NM_002485.5(NBN):c.1464T>C (p.Ser488=)
|
rs2129703123
|
|
NM_002485.5(NBN):c.1465C>T (p.Leu489Phe)
|
rs143948240
|
|
NM_002485.5(NBN):c.1466T>C (p.Leu489Pro)
|
rs2129703076
|
|
NM_002485.5(NBN):c.1469T>C (p.Leu490Ser)
|
rs1586054565
|
|
NM_002485.5(NBN):c.1470A>C (p.Leu490Phe)
|
rs1447979380
|
|
NM_002485.5(NBN):c.1472A>G (p.Glu491Gly)
|
rs2129702971
|
|
NM_002485.5(NBN):c.1473A>G (p.Glu491=)
|
rs2129702949
|
|
NM_002485.5(NBN):c.1474C>A (p.Gln492Lys)
|
rs587782130
|
|
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)
|
rs587782130
|
|
NM_002485.5(NBN):c.1475A>G (p.Gln492Arg)
|
rs768883132
|
|
NM_002485.5(NBN):c.1476A>C (p.Gln492His)
|
rs1382919150
|
|
NM_002485.5(NBN):c.1476A>G (p.Gln492=)
|
rs1382919150
|
|
NM_002485.5(NBN):c.1477A>G (p.Thr493Ala)
|
rs1810557417
|
|
NM_002485.5(NBN):c.1478_1481del (p.Thr493fs)
|
rs1586054483
|
|
NM_002485.5(NBN):c.1479A>G (p.Thr493=)
|
|
|
NM_002485.5(NBN):c.147T>A (p.Thr49=)
|
rs749206453
|
|
NM_002485.5(NBN):c.1480C>T (p.Gln494Ter)
|
|
|
NM_002485.5(NBN):c.1480_1481del (p.Gln494fs)
|
rs1586054483
|
|
NM_002485.5(NBN):c.1483C>T (p.Pro495Ser)
|
rs747027298
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.1484C>G (p.Pro495Arg)
|
rs863224714
|
|
NM_002485.5(NBN):c.1487C>T (p.Ala496Val)
|
rs1586054406
|
|
NM_002485.5(NBN):c.1488T>C (p.Ala496=)
|
rs2129702580
|
|
NM_002485.5(NBN):c.1488T>G (p.Ala496=)
|
|
|
NM_002485.5(NBN):c.1488_1491dup (p.Pro498fs)
|
|
|
NM_002485.5(NBN):c.1490C>T (p.Thr497Ile)
|
rs1563527011
|
|
NM_002485.5(NBN):c.1491A>G (p.Thr497=)
|
rs1554558489
|
|
NM_002485.5(NBN):c.1492C>A (p.Pro498Thr)
|
rs915825113
|
|
NM_002485.5(NBN):c.1492C>T (p.Pro498Ser)
|
|
|
NM_002485.5(NBN):c.1493C>A (p.Pro498His)
|
|
|
NM_002485.5(NBN):c.1494C>G (p.Pro498=)
|
rs1554558484
|
|
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro)
|
rs1554558483
|
|
NM_002485.5(NBN):c.1496C>A (p.Ser499Ter)
|
rs772411713
|
|
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)
|
rs772411713
|
|
NM_002485.5(NBN):c.1496C>T (p.Ser499Leu)
|
rs772411713
|
|
NM_002485.5(NBN):c.1497A>G (p.Ser499=)
|
rs774032674
|
|
NM_002485.5(NBN):c.1498T>C (p.Leu500=)
|
rs779116935
|
|
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser)
|
rs1563526901
|
|
NM_002485.5(NBN):c.149C>T (p.Ala50Val)
|
rs1554569035
|
|
NM_002485.5(NBN):c.14T>A (p.Leu5Gln)
|
rs1586116142
|
|
NM_002485.5(NBN):c.14T>C (p.Leu5Pro)
|
rs1586116142
|
|
NM_002485.5(NBN):c.14_23del (p.Leu5fs)
|
rs2129938178
|
|
NM_002485.5(NBN):c.1500G>A (p.Leu500=)
|
rs1586054284
|
|
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)
|
rs1554558472
|
|
NM_002485.5(NBN):c.1503G>T (p.Trp501Cys)
|
|
|
NM_002485.5(NBN):c.1509T>A (p.Asn503Lys)
|
rs876660751
|
|
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.150T>C (p.Ala50=)
|
rs1586111590
|
|
NM_002485.5(NBN):c.1511A>G (p.Lys504Arg)
|
rs757754183
|
|
NM_002485.5(NBN):c.1512G>A (p.Lys504=)
|
|
|
NM_002485.5(NBN):c.1513G>A (p.Glu505Lys)
|
rs1810553632
|
|
NM_002485.5(NBN):c.1515G>A (p.Glu505=)
|
rs2129702018
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.1516C>A (p.Gln506Lys)
|
|
|
NM_002485.5(NBN):c.1516C>G (p.Gln506Glu)
|
rs876658535
|
|
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter)
|
rs876658535
|
|
NM_002485.5(NBN):c.1519C>T (p.His507Tyr)
|
rs1554558456
|
|
NM_002485.5(NBN):c.151A>G (p.Asn51Asp)
|
|
|
NM_002485.5(NBN):c.1520A>C (p.His507Pro)
|
rs587782520
|
|
NM_002485.5(NBN):c.1520A>G (p.His507Arg)
|
rs587782520
|
|
NM_002485.5(NBN):c.1521T>A (p.His507Gln)
|
rs1586054212
|
|
NM_002485.5(NBN):c.1523dup (p.Ser509fs)
|
rs1586054199
|
|
NM_002485.5(NBN):c.1524A>G (p.Leu508=)
|
rs1266314359
|
|
NM_002485.5(NBN):c.1524A>T (p.Leu508=)
|
rs1266314359
|
|
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs)
|
rs1554558449
|
|
NM_002485.5(NBN):c.1525T>A (p.Ser509Thr)
|
|
|
NM_002485.5(NBN):c.1525T>C (p.Ser509Pro)
|
rs1810552588
|
|
NM_002485.5(NBN):c.1526C>A (p.Ser509Tyr)
|
rs1554558450
|
|
NM_002485.5(NBN):c.1526dup (p.Ser509_Glu510insTer)
|
rs1563526747
|
|
NM_002485.5(NBN):c.1527T>C (p.Ser509=)
|
|
|
NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)
|
|
|
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp)
|
rs1283330641
|
|
NM_002485.5(NBN):c.1531A>G (p.Asn511Asp)
|
|
|
NM_002485.5(NBN):c.1532A>C (p.Asn511Thr)
|
rs2129701658
|
|
NM_002485.5(NBN):c.1533T>C (p.Asn511=)
|
|
|
NM_002485.5(NBN):c.1533T>G (p.Asn511Lys)
|
rs587780776
|
|
NM_002485.5(NBN):c.1534G>A (p.Glu512Lys)
|
rs1554558445
|
|
NM_002485.5(NBN):c.1534G>C (p.Glu512Gln)
|
rs1554558445
|
|
NM_002485.5(NBN):c.1535A>G (p.Glu512Gly)
|
rs876659367
|
|
NM_002485.5(NBN):c.1536G>A (p.Glu512=)
|
rs754267250
|
|
NM_002485.5(NBN):c.1537C>T (p.Pro513Ser)
|
rs1810551219
|
|
NM_002485.5(NBN):c.1538C>T (p.Pro513Leu)
|
rs1554558440
|
|
NM_002485.5(NBN):c.1545C>T (p.Asp515=)
|
|
|
NM_002485.5(NBN):c.1546A>G (p.Thr516Ala)
|
rs376653589
|
|
NM_002485.5(NBN):c.1551C>A (p.Asn517Lys)
|
rs876658744
|
|
NM_002485.5(NBN):c.1551C>T (p.Asn517=)
|
rs876658744
|
|
NM_002485.5(NBN):c.1553C>G (p.Ser518Ter)
|
rs1060503480
|
|
NM_002485.5(NBN):c.1554A>C (p.Ser518=)
|
rs2129701132
|
|
NM_002485.5(NBN):c.1554del (p.Asp519fs)
|
rs2129701175
|
|
NM_002485.5(NBN):c.1554dup (p.Asp519fs)
|
rs1554558423
|
|
NM_002485.5(NBN):c.1556A>G (p.Asp519Gly)
|
|
|
NM_002485.5(NBN):c.1556A>T (p.Asp519Val)
|
|
|
NM_002485.5(NBN):c.1558A>G (p.Asn520Asp)
|
rs944499155
|
|
NM_002485.5(NBN):c.1560T>C (p.Asn520=)
|
rs2129701011
|
|
NM_002485.5(NBN):c.1562_1564dup (p.Asn521_Leu522insTyr)
|
rs1810549229
|
|
NM_002485.5(NBN):c.1564T>G (p.Leu522Val)
|
rs2129700928
|
|
NM_002485.5(NBN):c.1566A>T (p.Leu522Phe)
|
|
|
NM_002485.5(NBN):c.1566_1568del (p.Leu522del)
|
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1571C>T (p.Thr524Ile)
|
rs2129700864
|
|
NM_002485.5(NBN):c.1573G>A (p.Asp525Asn)
|
|
|
NM_002485.5(NBN):c.1575T>A (p.Asp525Glu)
|
rs587782150
|
|
NM_002485.5(NBN):c.1577C>G (p.Thr526Arg)
|
|
|
NM_002485.5(NBN):c.1578A>G (p.Thr526=)
|
rs2129700754
|
|
NM_002485.5(NBN):c.157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.1580A>G (p.Asp527Gly)
|
rs1554558407
|
|
NM_002485.5(NBN):c.1581T>G (p.Asp527Glu)
|
rs1586053893
|
|
NM_002485.5(NBN):c.1581_1597del (p.Asp527fs)
|
|
|
NM_002485.5(NBN):c.1582T>A (p.Leu528Ile)
|
rs2129700664
|
|
NM_002485.5(NBN):c.1582T>C (p.Leu528=)
|
rs2129700664
|
|
NM_002485.5(NBN):c.1583T>A (p.Leu528Ter)
|
|
|
NM_002485.5(NBN):c.1583T>C (p.Leu528Ser)
|
|
|
NM_002485.5(NBN):c.1583T>G (p.Leu528Ter)
|
rs2129700612
|
|
NM_002485.5(NBN):c.1587A>G (p.Lys529=)
|
rs1057521983
|
|
NM_002485.5(NBN):c.1587dup (p.Ser530fs)
|
rs1057516332
|
|
NM_002485.5(NBN):c.1588T>C (p.Ser530Pro)
|
rs1554558401
|
|
NM_002485.5(NBN):c.1589C>A (p.Ser530Tyr)
|
|
|
NM_002485.5(NBN):c.1589C>G (p.Ser530Cys)
|
rs920311188
|
|
NM_002485.5(NBN):c.1589C>T (p.Ser530Phe)
|
|
|
NM_002485.5(NBN):c.158C>G (p.Ser53Cys)
|
rs876660243
|
|
NM_002485.5(NBN):c.1592T>C (p.Ile531Thr)
|
rs2129700486
|
|
NM_002485.5(NBN):c.1594G>A (p.Val532Met)
|
rs545435120
|
|
NM_002485.5(NBN):c.1594G>T (p.Val532Leu)
|
rs545435120
|
|
NM_002485.5(NBN):c.1597A>G (p.Lys533Glu)
|
|
|
NM_002485.5(NBN):c.1598A>G (p.Lys533Arg)
|
|
|
NM_002485.5(NBN):c.1599A>G (p.Lys533=)
|
rs2129700342
|
|
NM_002485.5(NBN):c.1601A>G (p.Asn534Ser)
|
|
|
NM_002485.5(NBN):c.1603T>G (p.Ser535Ala)
|
rs1563526265
|
|
NM_002485.5(NBN):c.1609A>G (p.Ser537Gly)
|
rs1810545673
|
|
NM_002485.5(NBN):c.1612A>G (p.Lys538Glu)
|
rs2129700125
|
|
NM_002485.5(NBN):c.1613A>T (p.Lys538Ile)
|
rs1810545480
|
|
NM_002485.5(NBN):c.1616C>G (p.Ser539Cys)
|
rs768431216
|
|
NM_002485.5(NBN):c.1619A>T (p.His540Leu)
|
|
|
NM_002485.5(NBN):c.161T>C (p.Val54Ala)
|
rs769700749
|
|
NM_002485.5(NBN):c.1621G>A (p.Ala541Thr)
|
|
|
NM_002485.5(NBN):c.1621G>C (p.Ala541Pro)
|
|
|
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)
|
rs876658501
|
|
NM_002485.5(NBN):c.1622C>T (p.Ala541Val)
|
rs876658501
|
|
NM_002485.5(NBN):c.1622_1634del (p.Ala541fs)
|
|
|
NM_002485.5(NBN):c.1623T>C (p.Ala541=)
|
rs1209398379
|
|
NM_002485.5(NBN):c.1624G>T (p.Ala542Ser)
|
rs764263689
|
|
NM_002485.5(NBN):c.1624_1625delinsTT (p.Ala542Leu)
|
rs2129699919
|
|
NM_002485.5(NBN):c.1625C>T (p.Ala542Val)
|
rs760911186
|
|
NM_002485.5(NBN):c.1626A>G (p.Ala542=)
|
rs1563526123
|
|
NM_002485.5(NBN):c.1628A>C (p.Glu543Ala)
|
rs587781624
|
|
NM_002485.5(NBN):c.1631A>G (p.Lys544Arg)
|
rs2129699796
|
|
NM_002485.5(NBN):c.1635A>G (p.Leu545=)
|
rs1353578845
|
|
NM_002485.5(NBN):c.1636A>G (p.Arg546Gly)
|
|
|
NM_002485.5(NBN):c.1637G>A (p.Arg546Lys)
|
|
|
NM_002485.5(NBN):c.1637G>C (p.Arg546Thr)
|
rs1360502904
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1640C>A (p.Ser547Ter)
|
|
|
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)
|
rs776417262
|
|
NM_002485.5(NBN):c.1642A>G (p.Asn548Asp)
|
rs772234785
|
|
NM_002485.5(NBN):c.1642_1661del (p.Ser547_Asn548insTer)
|
rs2129699105
|
|
NM_002485.5(NBN):c.1643A>G (p.Asn548Ser)
|
|
|
NM_002485.5(NBN):c.1644dup (p.Lys549Ter)
|
rs2129699596
|
|
NM_002485.5(NBN):c.1645A>G (p.Lys549Glu)
|
rs1810540992
|
|
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)
|
rs1810540992
|
|
NM_002485.5(NBN):c.1646A>T (p.Lys549Ile)
|
|
|
NM_002485.5(NBN):c.1647A>G (p.Lys549=)
|
rs988523294
|
|
NM_002485.5(NBN):c.1647_1651del (p.Lys550fs)
|
rs766044684
|
|
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.164C>G (p.Thr55Ser)
|
rs1812127566
|
|
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn)
|
rs1554558368
|
|
NM_002485.5(NBN):c.1651A>G (p.Arg551Gly)
|
rs1810539994
|
|
NM_002485.5(NBN):c.1651dup (p.Arg551fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1653G>A (p.Arg551=)
|
|
|
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln)
|
rs1064793213
|
|
NM_002485.5(NBN):c.1654dup (p.Glu552fs)
|
rs760237820
|
|
NM_002485.5(NBN):c.1657A>T (p.Met553Leu)
|
rs746347634
|
|
NM_002485.5(NBN):c.165C>T (p.Thr55=)
|
rs1812127469
|
|
NM_002485.5(NBN):c.1660G>C (p.Asp554His)
|
rs1554558349
|
|
NM_002485.5(NBN):c.1660G>T (p.Asp554Tyr)
|
rs1554558349
|
|
NM_002485.5(NBN):c.1665T>C (p.Asp555=)
|
|
|
NM_002485.5(NBN):c.1666G>A (p.Val556Met)
|
rs771567358
|
|
NM_002485.5(NBN):c.1666G>T (p.Val556Leu)
|
rs771567358
|
|
NM_002485.5(NBN):c.1670C>A (p.Ala557Asp)
|
|
|
NM_002485.5(NBN):c.1670C>G (p.Ala557Gly)
|
rs1286743873
|
|
NM_002485.5(NBN):c.1670C>T (p.Ala557Val)
|
rs1286743873
|
|
NM_002485.5(NBN):c.1671C>T (p.Ala557=)
|
rs1057521670
|
|
NM_002485.5(NBN):c.1672A>C (p.Ile558Leu)
|
rs876659451
|
|
NM_002485.5(NBN):c.1672A>G (p.Ile558Val)
|
rs876659451
|
|
NM_002485.5(NBN):c.1673T>A (p.Ile558Lys)
|
rs1810537849
|
|
NM_002485.5(NBN):c.1675G>A (p.Glu559Lys)
|
rs2129698794
|
|
NM_002485.5(NBN):c.1675dup (p.Glu559fs)
|
rs1563525678
|
|
NM_002485.5(NBN):c.1679A>G (p.Asp560Gly)
|
rs2129698759
|
|
NM_002485.5(NBN):c.1679A>T (p.Asp560Val)
|
|
|
NM_002485.5(NBN):c.167A>G (p.Asn56Ser)
|
rs1554569009
|
|
NM_002485.5(NBN):c.1680T>A (p.Asp560Glu)
|
rs1810537339
|
|
NM_002485.5(NBN):c.1682A>C (p.Glu561Ala)
|
rs1586053460
|
|
NM_002485.5(NBN):c.1685T>G (p.Val562Gly)
|
rs1060503455
|
|
NM_002485.5(NBN):c.1686A>G (p.Val562=)
|
|
|
NM_002485.5(NBN):c.1687T>A (p.Leu563Met)
|
rs1466493008
|
|
NM_002485.5(NBN):c.1687T>C (p.Leu563=)
|
rs1466493008
|
|
NM_002485.5(NBN):c.1688T>C (p.Leu563Ser)
|
rs935736921
|
|
NM_002485.5(NBN):c.1689_1690del (p.Glu564fs)
|
|
|
NM_002485.5(NBN):c.168C>A (p.Asn56Lys)
|
rs1586111516
|
|
NM_002485.5(NBN):c.168C>T (p.Asn56=)
|
rs1586111516
|
|
NM_002485.5(NBN):c.1691A>G (p.Glu564Gly)
|
rs1554558323
|
|
NM_002485.5(NBN):c.1692A>G (p.Glu564=)
|
rs2129698510
|
|
NM_002485.5(NBN):c.1693C>A (p.Gln565Lys)
|
rs1586053399
|
|
NM_002485.5(NBN):c.1693C>T (p.Gln565Ter)
|
rs1586053399
|
|
NM_002485.5(NBN):c.1693_1694del (p.Gln565fs)
|
|
|
NM_002485.5(NBN):c.1695_1698dup (p.Phe567fs)
|
rs1279184426
|
|
NM_002485.5(NBN):c.1697dup (p.Leu566fs)
|
rs1586053378
|
|
NM_002485.5(NBN):c.1699T>C (p.Phe567Leu)
|
rs1554558312
|
|
NM_002485.5(NBN):c.169C>T (p.Leu57=)
|
rs1586111504
|
|
NM_002485.5(NBN):c.16C>A (p.Pro6Thr)
|
rs730881859
|
|
NM_002485.5(NBN):c.16C>G (p.Pro6Ala)
|
rs730881859
|
|
NM_002485.5(NBN):c.16C>T (p.Pro6Ser)
|
rs730881859
|
|
NM_002485.5(NBN):c.1700T>G (p.Phe567Cys)
|
rs980167139
|
|
NM_002485.5(NBN):c.1700_1760dup (p.Val587_Asn588insGlnGlyHisLysThrArgValArgAsnTer)
|
rs1810527499
|
|
NM_002485.5(NBN):c.1701C>G (p.Phe567Leu)
|
rs730881853
|
|
NM_002485.5(NBN):c.1701C>T (p.Phe567=)
|
rs730881853
|
|
NM_002485.5(NBN):c.1702A>G (p.Lys568Glu)
|
|
|
NM_002485.5(NBN):c.1706A>G (p.Asp569Gly)
|
|
|
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+11A>C
|
|
|
NM_002485.5(NBN):c.171+19T>C
|
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.171+1G>C
|
rs931715719
|
|
NM_002485.5(NBN):c.171+1G>T
|
rs931715719
|
|
NM_002485.5(NBN):c.171+4T>A
|
rs587782290
|
|
NM_002485.5(NBN):c.171+7T>A
|
|
|
NM_002485.5(NBN):c.171+8A>G
|
|
|
NM_002485.5(NBN):c.171+8dup
|
rs2129923970
|
|
NM_002485.5(NBN):c.171+9C>T
|
rs1057522123
|
|
NM_002485.5(NBN):c.1710A>G (p.Thr570=)
|
rs1586053313
|
|
NM_002485.5(NBN):c.1713A>G (p.Lys571=)
|
rs2129698120
|
|
NM_002485.5(NBN):c.1714C>T (p.Pro572Ser)
|
rs749918573
|
|
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu)
|
rs1554558303
|
|
NM_002485.5(NBN):c.1716A>C (p.Pro572=)
|
rs1586053267
|
|
NM_002485.5(NBN):c.1716A>G (p.Pro572=)
|
rs1586053267
|
|
NM_002485.5(NBN):c.1717G>C (p.Glu573Gln)
|
rs2129697994
|
|
NM_002485.5(NBN):c.1719G>A (p.Glu573=)
|
rs1586053258
|
|
NM_002485.5(NBN):c.1719G>T (p.Glu573Asp)
|
rs1586053258
|
|
NM_002485.5(NBN):c.171G>T (p.Leu57=)
|
rs1554569001
|
|
NM_002485.5(NBN):c.172-10A>C
|
|
|
NM_002485.5(NBN):c.172-11T>C
|
|
|
NM_002485.5(NBN):c.172-12C>T
|
|
|
NM_002485.5(NBN):c.172-15T>G
|
|
|
NM_002485.5(NBN):c.172-16T>C
|
rs2129916835
|
|
NM_002485.5(NBN):c.172-17A>G
|
rs368471581
|
|
NM_002485.5(NBN):c.172-17del
|
|
|
NM_002485.5(NBN):c.172-19T>A
|
rs2129916862
|
|
NM_002485.5(NBN):c.172-1G>A
|
rs1391598284
|
|
NM_002485.5(NBN):c.172-1G>T
|
rs1391598284
|
|
NM_002485.5(NBN):c.172-28_172-20del
|
rs774151023
|
|
NM_002485.5(NBN):c.172-2A>T
|
rs2129916685
|
|
NM_002485.5(NBN):c.172-3C>G
|
rs587781620
|
|
NM_002485.5(NBN):c.172-529G>A
|
rs104895039
|
|
NM_002485.5(NBN):c.172-5_172-4del
|
|
|
NM_002485.5(NBN):c.172-8C>A
|
rs1335357045
|
|
NM_002485.5(NBN):c.172-8C>G
|
rs1335357045
|
|
NM_002485.5(NBN):c.1720T>G (p.Leu574Val)
|
rs142334798
|
|
NM_002485.5(NBN):c.1722A>G (p.Leu574=)
|
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
|
NM_002485.5(NBN):c.1726del (p.Ile576fs)
|
|
|
NM_002485.5(NBN):c.1727T>C (p.Ile576Thr)
|
rs1255733657
|
|
NM_002485.5(NBN):c.1727T>G (p.Ile576Ser)
|
rs1255733657
|
|
NM_002485.5(NBN):c.172A>T (p.Ser58Cys)
|
rs1554568431
|
|
NM_002485.5(NBN):c.1731T>C (p.Asp577=)
|
rs2129697808
|
|
NM_002485.5(NBN):c.1731T>G (p.Asp577Glu)
|
|
|
NM_002485.5(NBN):c.1732G>T (p.Val578Leu)
|
rs1554558284
|
|
NM_002485.5(NBN):c.1733T>C (p.Val578Ala)
|
|
|
NM_002485.5(NBN):c.1734G>C (p.Val578=)
|
|
|
NM_002485.5(NBN):c.1735A>C (p.Lys579Gln)
|
rs993110145
|
|
NM_002485.5(NBN):c.1737del (p.Val580fs)
|
rs1563525210
|
|
NM_002485.5(NBN):c.1738G>A (p.Val580Ile)
|
rs878854506
|
|
NM_002485.5(NBN):c.1738G>T (p.Val580Phe)
|
rs878854506
|
|
NM_002485.5(NBN):c.1739T>G (p.Val580Gly)
|
rs2129697638
|
|
NM_002485.5(NBN):c.1743A>G (p.Gln581=)
|
rs2129697558
|
|
NM_002485.5(NBN):c.1746A>G (p.Lys582=)
|
rs1586053134
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.1747dup (p.Gln583fs)
|
rs1810529464
|
|
NM_002485.5(NBN):c.1749GGA[1] (p.Glu585del)
|
rs1554558265
|
|
NM_002485.5(NBN):c.174T>C (p.Ser58=)
|
|
|
NM_002485.5(NBN):c.1750G>T (p.Glu584Ter)
|
rs1554558270
|
|
NM_002485.5(NBN):c.1752G>A (p.Glu584=)
|
rs1554558267
|
|
NM_002485.5(NBN):c.1752G>C (p.Glu584Asp)
|
rs1554558267
|
|
NM_002485.5(NBN):c.1755A>G (p.Glu585=)
|
|
|
NM_002485.5(NBN):c.1756G>C (p.Asp586His)
|
rs786202588
|
|
NM_002485.5(NBN):c.1757A>G (p.Asp586Gly)
|
rs1810527909
|
|
NM_002485.5(NBN):c.1757A>T (p.Asp586Val)
|
rs1810527909
|
|
NM_002485.5(NBN):c.1759G>A (p.Val587Ile)
|
rs1586053076
|
|
NM_002485.5(NBN):c.175C>G (p.Gln59Glu)
|
rs1554568427
|
|
NM_002485.5(NBN):c.1764T>C (p.Asn588=)
|
rs1554558253
|
|
NM_002485.5(NBN):c.1767del (p.Arg590fs)
|
|
|
NM_002485.5(NBN):c.1769G>A (p.Arg590Lys)
|
|
|
NM_002485.5(NBN):c.1769G>C (p.Arg590Thr)
|
rs1563524967
|
|
NM_002485.5(NBN):c.1769del (p.Arg590fs)
|
rs1563525004
|
|
NM_002485.5(NBN):c.1770A>G (p.Arg590=)
|
rs1586053003
|
|
NM_002485.5(NBN):c.1774A>G (p.Arg592Gly)
|
rs1554558245
|
|
NM_002485.5(NBN):c.1775G>T (p.Arg592Met)
|
rs1586052969
|
|
NM_002485.5(NBN):c.1776G>T (p.Arg592Ser)
|
rs1554558244
|
|
NM_002485.5(NBN):c.1777C>A (p.Pro593Thr)
|
rs146989944
|
|
NM_002485.5(NBN):c.1777C>T (p.Pro593Ser)
|
|
|
NM_002485.5(NBN):c.1778_1779insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAAGGCC (p.Pro593_Arg594insAlaGlyArgGlyGlySerArgLeuTer)
|
rs2129696816
|
|
NM_002485.5(NBN):c.1779A>G (p.Pro593=)
|
rs2129696801
|
|
NM_002485.5(NBN):c.177_180del (p.Thr60fs)
|
|
|
NM_002485.5(NBN):c.1780A>G (p.Arg594Gly)
|
rs1554558241
|
|
NM_002485.5(NBN):c.1780del (p.Arg594fs)
|
rs1586052920
|
|
NM_002485.5(NBN):c.1782G>A (p.Arg594=)
|
rs1810524788
|
|
NM_002485.5(NBN):c.1783A>G (p.Met595Val)
|
rs2129696684
|
|
NM_002485.5(NBN):c.1785G>A (p.Met595Ile)
|
rs1586052885
|
|
NM_002485.5(NBN):c.1786G>A (p.Asp596Asn)
|
rs1467034784
|
|
NM_002485.5(NBN):c.1786G>C (p.Asp596His)
|
rs1467034784
|
|
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly)
|
rs1005715125
|
|
NM_002485.5(NBN):c.1787A>T (p.Asp596Val)
|
rs1005715125
|
|
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs)
|
rs1586052851
|
|
NM_002485.5(NBN):c.1789A>T (p.Ile597Leu)
|
rs864622167
|
|
NM_002485.5(NBN):c.178_180del (p.Thr60del)
|
|
|
NM_002485.5(NBN):c.178dup (p.Thr60fs)
|
rs1057516392
|
|
NM_002485.5(NBN):c.1791A>G (p.Ile597Met)
|
rs1810523727
|
|
NM_002485.5(NBN):c.1795A>G (p.Thr599Ala)
|
rs878854507
|
|
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg)
|
rs775848374
|
|
NM_002485.5(NBN):c.1796C>T (p.Thr599Ile)
|
rs775848374
|
|
NM_002485.5(NBN):c.1797A>G (p.Thr599=)
|
rs1810523208
|
|
NM_002485.5(NBN):c.1799A>G (p.Asn600Ser)
|
|
|
NM_002485.5(NBN):c.17C>T (p.Pro6Leu)
|
rs876658432
|
|
NM_002485.5(NBN):c.1802A>G (p.Asp601Gly)
|
rs553571469
|
|
NM_002485.5(NBN):c.1803C>G (p.Asp601Glu)
|
rs2129696348
|
|
NM_002485.5(NBN):c.1805C>G (p.Thr602Ser)
|
rs1563524801
|
|
NM_002485.5(NBN):c.1805C>T (p.Thr602Ile)
|
rs1563524801
|
|
NM_002485.5(NBN):c.1806T>A (p.Thr602=)
|
rs1477618624
|
|
NM_002485.5(NBN):c.1808T>C (p.Phe603Ser)
|
rs1810522468
|
|
NM_002485.5(NBN):c.1808T>G (p.Phe603Cys)
|
rs1810522468
|
|
NM_002485.5(NBN):c.1809C>T (p.Phe603=)
|
|
|
NM_002485.5(NBN):c.180A>T (p.Thr60=)
|
|
|
NM_002485.5(NBN):c.1812T>A (p.Ser604Arg)
|
|
|
NM_002485.5(NBN):c.1812T>C (p.Ser604=)
|
rs1586052747
|
|
NM_002485.5(NBN):c.1818A>G (p.Glu606=)
|
|
|
NM_002485.5(NBN):c.181G>A (p.Asp61Asn)
|
|
|
NM_002485.5(NBN):c.181G>C (p.Asp61His)
|
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1820C>T (p.Ala607Val)
|
rs1810521873
|
|
NM_002485.5(NBN):c.1821A>G (p.Ala607=)
|
rs1554558213
|
|
NM_002485.5(NBN):c.1825C>A (p.Pro609Thr)
|
rs372012641
|
|
NM_002485.5(NBN):c.1825C>T (p.Pro609Ser)
|
rs372012641
|
|
NM_002485.5(NBN):c.1828G>A (p.Glu610Lys)
|
|
|
NM_002485.5(NBN):c.182A>G (p.Asp61Gly)
|
rs1460282206
|
|
NM_002485.5(NBN):c.1830A>G (p.Glu610=)
|
rs2129695896
|
|
NM_002485.5(NBN):c.1831A>G (p.Ser611Gly)
|
|
|
NM_002485.5(NBN):c.1833T>C (p.Ser611=)
|
rs1554558203
|
|
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu)
|
rs1554558199
|
|
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)
|
rs1554558199
|
|
NM_002485.5(NBN):c.183T>C (p.Asp61=)
|
rs2129916430
|
|
NM_002485.5(NBN):c.183del (p.Asp61fs)
|
rs587782147
|
|
NM_002485.5(NBN):c.1842A>G (p.Ile614Met)
|
rs770345026
|
|
NM_002485.5(NBN):c.1844C>G (p.Ser615Cys)
|
|
|
NM_002485.5(NBN):c.1844C>T (p.Ser615Phe)
|
rs1810520002
|
|
NM_002485.5(NBN):c.1845+10A>G
|
rs570914185
|
|
NM_002485.5(NBN):c.1845+17A>G
|
rs1810518657
|
|
NM_002485.5(NBN):c.1845+19G>A
|
rs1810518461
|
|
NM_002485.5(NBN):c.1845+1G>A
|
rs2129695663
|
|
NM_002485.5(NBN):c.1845+2T>C
|
rs1586052622
|
|
NM_002485.5(NBN):c.1845+2T>G
|
|
|
NM_002485.5(NBN):c.1845+2dup
|
rs1586052628
|
|
NM_002485.5(NBN):c.1845+5G>A
|
|
|
NM_002485.5(NBN):c.1845+5_1845+8del
|
rs1563524615
|
|
NM_002485.5(NBN):c.1845+7A>T
|
|
|
NM_002485.5(NBN):c.1845+8A>G
|
rs757994058
|
|
NM_002485.5(NBN):c.1845+9C>G
|
|
|
NM_002485.5(NBN):c.1845+9C>T
|
rs1586052588
|
|
NM_002485.5(NBN):c.1845T>C (p.Ser615=)
|
rs1810519877
|
|
NM_002485.5(NBN):c.1846-10A>G
|
rs2129660939
|
|
NM_002485.5(NBN):c.1846-10A>T
|
rs2129660939
|
|
NM_002485.5(NBN):c.1846-11_1846-7del
|
rs1060504925
|
|
NM_002485.5(NBN):c.1846-12T>C
|
|
|
NM_002485.5(NBN):c.1846-13T>A
|
rs1810272926
|
|
NM_002485.5(NBN):c.1846-14T>C
|
rs2129661007
|
|
NM_002485.5(NBN):c.1846-16T>A
|
|
|
NM_002485.5(NBN):c.1846-17_1846-11del
|
|
|
NM_002485.5(NBN):c.1846-1G>A
|
rs61753717
|
|
NM_002485.5(NBN):c.1846-1G>T
|
rs61753717
|
|
NM_002485.5(NBN):c.1846-3T>C
|
rs1810272337
|
|
NM_002485.5(NBN):c.1846-5_1846-2dup
|
rs1554556962
|
|
NM_002485.5(NBN):c.1846-6C>T
|
rs1586043853
|
|
NM_002485.5(NBN):c.1846-726_1895del
|
|
|
NM_002485.5(NBN):c.1846-7T>C
|
|
|
NM_002485.5(NBN):c.1846-7T>G
|
rs2129660876
|
|
NM_002485.5(NBN):c.1846-9T>C
|
rs1554556966
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1849G>C (p.Glu617Gln)
|
rs766602873
|
|
NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)
|
rs766602873
|
|
NM_002485.5(NBN):c.1851A>C (p.Glu617Asp)
|
rs1660299603
|
|
NM_002485.5(NBN):c.1851A>G (p.Glu617=)
|
|
|
NM_002485.5(NBN):c.1854T>C (p.Asn618=)
|
rs2129660657
|
|
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs)
|
rs1060503466
|
|
NM_002485.5(NBN):c.185A>T (p.Glu62Val)
|
rs1812067152
|
|
NM_002485.5(NBN):c.1860T>C (p.Ile620=)
|
rs1060504927
|
|
NM_002485.5(NBN):c.1860del (p.Ile620fs)
|
rs1810270891
|
|
NM_002485.5(NBN):c.1861G>A (p.Gly621Arg)
|
rs1810270617
|
|
NM_002485.5(NBN):c.1863G>A (p.Gly621=)
|
rs773909162
|
|
NM_002485.5(NBN):c.1868A>G (p.Lys623Arg)
|
rs1810269932
|
|
NM_002485.5(NBN):c.1869A>G (p.Lys623=)
|
rs2129660412
|
|
NM_002485.5(NBN):c.186A>C (p.Glu62Asp)
|
rs1586109110
|
|
NM_002485.5(NBN):c.1870C>A (p.Arg624Ser)
|
|
|
NM_002485.5(NBN):c.1870C>G (p.Arg624Gly)
|
rs962092255
|
|
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)
|
rs962092255
|
|
NM_002485.5(NBN):c.1871G>T (p.Arg624Leu)
|
rs587782297
|
|
NM_002485.5(NBN):c.1871_1873del (p.Arg624_Glu625delinsGln)
|
rs1554556932
|
|
NM_002485.5(NBN):c.1874A>C (p.Glu625Ala)
|
|
|
NM_002485.5(NBN):c.1874A>G (p.Glu625Gly)
|
rs1554556929
|
|
NM_002485.5(NBN):c.1880A>G (p.Lys627Arg)
|
rs762174459
|
|
NM_002485.5(NBN):c.1880A>T (p.Lys627Met)
|
rs762174459
|
|
NM_002485.5(NBN):c.1881G>T (p.Lys627Asn)
|
rs2129660206
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
NM_002485.5(NBN):c.1884A>G (p.Glu628=)
|
rs771709611
|
|
NM_002485.5(NBN):c.1885G>A (p.Asp629Asn)
|
rs745559078
|
|
NM_002485.5(NBN):c.1885G>T (p.Asp629Tyr)
|
rs745559078
|
|
NM_002485.5(NBN):c.1886A>C (p.Asp629Ala)
|
rs1586043675
|
|
NM_002485.5(NBN):c.1886A>G (p.Asp629Gly)
|
rs1586043675
|
|
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)
|
rs1810267412
|
|
NM_002485.5(NBN):c.1889C>T (p.Ser630Leu)
|
rs1810267412
|
|
NM_002485.5(NBN):c.188T>A (p.Ile63Asn)
|
rs961554359
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
NM_002485.5(NBN):c.1891C>G (p.Leu631Val)
|
rs1064793477
|
|
NM_002485.5(NBN):c.1891C>T (p.Leu631=)
|
rs1064793477
|
|
NM_002485.5(NBN):c.1892T>C (p.Leu631Pro)
|
|
|
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg)
|
rs1586043635
|
|
NM_002485.5(NBN):c.1895G>A (p.Trp632Ter)
|
rs2129659855
|
|
NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)
|
|
|
NM_002485.5(NBN):c.1896G>T (p.Trp632Cys)
|
rs1221760506
|
|
NM_002485.5(NBN):c.1896del (p.Trp632fs)
|
|
|
NM_002485.5(NBN):c.1897T>G (p.Ser633Ala)
|
|
|
NM_002485.5(NBN):c.1898C>T (p.Ser633Leu)
|
rs1554556897
|
|
NM_002485.5(NBN):c.189C>A (p.Ile63=)
|
rs1554568383
|
|
NM_002485.5(NBN):c.189C>T (p.Ile63=)
|
rs1554568383
|
|
NM_002485.5(NBN):c.18C>G (p.Pro6=)
|
rs786201394
|
|
NM_002485.5(NBN):c.18C>T (p.Pro6=)
|
rs786201394
|
|
NM_002485.5(NBN):c.1900G>A (p.Ala634Thr)
|
rs1554556892
|
|
NM_002485.5(NBN):c.1902T>C (p.Ala634=)
|
rs876660052
|
|
NM_002485.5(NBN):c.1903A>G (p.Lys635Glu)
|
rs587782545
|
|
NM_002485.5(NBN):c.1908A>C (p.Glu636Asp)
|
rs1563516272
|
|
NM_002485.5(NBN):c.1908A>G (p.Glu636=)
|
|
|
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)
|
rs1563516254
|
|
NM_002485.5(NBN):c.190C>G (p.Pro64Ala)
|
rs267602038
|
|
NM_002485.5(NBN):c.190C>T (p.Pro64Ser)
|
rs267602038
|
|
NM_002485.5(NBN):c.1911A>G (p.Ile637Met)
|
rs372877871
|
|
NM_002485.5(NBN):c.1911_1914+1del
|
rs1554556880
|
|
NM_002485.5(NBN):c.1912del (p.Ser638fs)
|
|
|
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr)
|
rs756036331
|
|
NM_002485.5(NBN):c.1914+11T>C
|
|
|
NM_002485.5(NBN):c.1914+13T>A
|
|
|
NM_002485.5(NBN):c.1914+14T>C
|
|
|
NM_002485.5(NBN):c.1914+16_1914+18del
|
rs1437396256
|
|
NM_002485.5(NBN):c.1914+17T>C
|
rs1275235372
|
|
NM_002485.5(NBN):c.1914+18A>G
|
rs2129659249
|
|
NM_002485.5(NBN):c.1914+18_1914+21del
|
rs773894616
|
|
NM_002485.5(NBN):c.1914+19A>C
|
rs2129659201
|
|
NM_002485.5(NBN):c.1914+1G>T
|
|
|
NM_002485.5(NBN):c.1914+20T>G
|
rs1459013677
|
|
NM_002485.5(NBN):c.1914+2T>G
|
rs2129659522
|
|
NM_002485.5(NBN):c.1914+2_1914+3del
|
rs1586043528
|
|
NM_002485.5(NBN):c.1914+3G>A
|
rs1554556878
|
|
NM_002485.5(NBN):c.1914+5G>A
|
rs1586043509
|
|
NM_002485.5(NBN):c.1914+7A>T
|
|
|
NM_002485.5(NBN):c.1914+8A>G
|
rs2129659430
|
|
NM_002485.5(NBN):c.1915-10C>G
|
rs1586040877
|
|
NM_002485.5(NBN):c.1915-11C>T
|
rs1053297568
|
|
NM_002485.5(NBN):c.1915-15T>G
|
rs2129649793
|
|
NM_002485.5(NBN):c.1915-16C>G
|
|
|
NM_002485.5(NBN):c.1915-18A>G
|
|
|
NM_002485.5(NBN):c.1915-19C>T
|
rs1810190195
|
|
NM_002485.5(NBN):c.1915-3dup
|
rs2129649518
|
|
NM_002485.5(NBN):c.1915-5T>G
|
rs1554556608
|
|
NM_002485.5(NBN):c.1915-8_1915-7inv
|
|
|
NM_002485.5(NBN):c.1915-9C>T
|
|
|
NM_002485.5(NBN):c.1918A>G (p.Asn640Asp)
|
rs1810188771
|
|
NM_002485.5(NBN):c.1919A>T (p.Asn640Ile)
|
rs748073091
|
|
NM_002485.5(NBN):c.191C>G (p.Pro64Arg)
|
rs1563581492
|
|
NM_002485.5(NBN):c.191C>T (p.Pro64Leu)
|
rs1563581492
|
|
NM_002485.5(NBN):c.1920T>A (p.Asn640Lys)
|
rs1554556602
|
|
NM_002485.5(NBN):c.1920T>C (p.Asn640=)
|
rs1554556602
|
|
NM_002485.5(NBN):c.1921G>A (p.Asp641Asn)
|
rs1586040820
|
|
NM_002485.5(NBN):c.1922A>G (p.Asp641Gly)
|
rs921235584
|
|
NM_002485.5(NBN):c.1923C>A (p.Asp641Glu)
|
rs1563513669
|
|
NM_002485.5(NBN):c.1923del (p.Asp641fs)
|
|
|
NM_002485.5(NBN):c.1923dup (p.Lys642fs)
|
|
|
NM_002485.5(NBN):c.1927C>G (p.Leu643Val)
|
rs1586040775
|
|
NM_002485.5(NBN):c.1927C>T (p.Leu643Phe)
|
|
|
NM_002485.5(NBN):c.1929T>G (p.Leu643=)
|
|
|
NM_002485.5(NBN):c.192T>C (p.Pro64=)
|
rs1554568378
|
|
NM_002485.5(NBN):c.1930C>A (p.Gln644Lys)
|
rs764050423
|
|
NM_002485.5(NBN):c.1931A>G (p.Gln644Arg)
|
rs1554556598
|
|
NM_002485.5(NBN):c.1932G>T (p.Gln644His)
|
rs754783870
|
|
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.1935T>A (p.Asp645Glu)
|
rs1172294340
|
|
NM_002485.5(NBN):c.1936G>A (p.Asp646Asn)
|
rs2129649024
|
|
NM_002485.5(NBN):c.1939del (p.Ser647fs)
|
rs2129648967
|
|
NM_002485.5(NBN):c.193G>T (p.Val65Leu)
|
rs778998026
|
|
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg)
|
rs1477953712
|
|
NM_002485.5(NBN):c.1941T>C (p.Ser647=)
|
rs1477953712
|
|
NM_002485.5(NBN):c.1946T>C (p.Met649Thr)
|
rs1554556582
|
|
NM_002485.5(NBN):c.1947G>A (p.Met649Ile)
|
rs1554556579
|
|
NM_002485.5(NBN):c.194T>A (p.Val65Glu)
|
rs1563581457
|
|
NM_002485.5(NBN):c.1950T>C (p.Leu650=)
|
rs2129648687
|
|
NM_002485.5(NBN):c.1951C>T (p.Pro651Ser)
|
rs1810185871
|
|
NM_002485.5(NBN):c.1952C>T (p.Pro651Leu)
|
rs1554556572
|
|
NM_002485.5(NBN):c.1954A>G (p.Lys652Glu)
|
rs780360772
|
|
NM_002485.5(NBN):c.1958dup (p.Leu654fs)
|
rs780235686
|
|
NM_002485.5(NBN):c.1959G>A (p.Lys653=)
|
rs2129648549
|
|
NM_002485.5(NBN):c.1963T>C (p.Leu655=)
|
rs2129648442
|
|
NM_002485.5(NBN):c.1966T>C (p.Leu656=)
|
rs878854508
|
|
NM_002485.5(NBN):c.1968_1969del (p.Leu656fs)
|
|
|
NM_002485.5(NBN):c.1971T>C (p.Thr657=)
|
|
|
NM_002485.5(NBN):c.1974A>T (p.Glu658Asp)
|
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.1975T>G (p.Phe659Val)
|
rs1060503469
|
|
NM_002485.5(NBN):c.1976T>G (p.Phe659Cys)
|
rs1410677050
|
|
NM_002485.5(NBN):c.1977T>C (p.Phe659=)
|
rs2129648097
|
|
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys)
|
rs201781110
|
|
NM_002485.5(NBN):c.1979G>T (p.Arg660Ile)
|
rs201781110
|
|
NM_002485.5(NBN):c.197T>G (p.Leu66Trp)
|
rs1812065476
|
|
NM_002485.5(NBN):c.1980A>G (p.Arg660=)
|
rs2129648040
|
|
NM_002485.5(NBN):c.1982C>G (p.Ser661Ter)
|
rs1810183784
|
|
NM_002485.5(NBN):c.1982C>T (p.Ser661Leu)
|
rs1810183784
|
|
NM_002485.5(NBN):c.1983A>G (p.Ser661=)
|
rs876658655
|
|
NM_002485.5(NBN):c.1985T>G (p.Leu662Arg)
|
rs1810183362
|
|
NM_002485.5(NBN):c.1986_2001del (p.Val663fs)
|
rs2129647483
|
|
NM_002485.5(NBN):c.1987G>C (p.Val663Leu)
|
rs1554556547
|
|
NM_002485.5(NBN):c.1987G>T (p.Val663Leu)
|
rs1554556547
|
|
NM_002485.5(NBN):c.198G>A (p.Leu66=)
|
rs757735005
|
|
NM_002485.5(NBN):c.1990A>T (p.Ile664Phe)
|
rs2129647841
|
|
NM_002485.5(NBN):c.1992T>A (p.Ile664=)
|
rs1810182762
|
|
NM_002485.5(NBN):c.1992T>C (p.Ile664=)
|
rs1810182762
|
|
NM_002485.5(NBN):c.1992dup (p.Lys665Ter)
|
rs2129647777
|
|
NM_002485.5(NBN):c.1993A>G (p.Lys665Glu)
|
rs1554556544
|
|
NM_002485.5(NBN):c.1993A>T (p.Lys665Ter)
|
rs1554556544
|
|
NM_002485.5(NBN):c.1997A>C (p.Asn666Thr)
|
rs2129647636
|
|
NM_002485.5(NBN):c.1998C>G (p.Asn666Lys)
|
rs1057523508
|
|
NM_002485.5(NBN):c.1998C>T (p.Asn666=)
|
rs1057523508
|
|
NM_002485.5(NBN):c.199A>G (p.Thr67Ala)
|
rs876660922
|
|
NM_002485.5(NBN):c.19G>C (p.Ala7Pro)
|
rs587780779
|
|
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs)
|
rs1057516852
|
|
NM_002485.5(NBN):c.2001T>C (p.Ser667=)
|
rs1586040479
|
|
NM_002485.5(NBN):c.2003C>G (p.Thr668Ser)
|
rs876658336
|
|
NM_002485.5(NBN):c.2003C>T (p.Thr668Ile)
|
rs876658336
|
|
NM_002485.5(NBN):c.2004T>C (p.Thr668=)
|
rs1563513242
|
|
NM_002485.5(NBN):c.2004T>G (p.Thr668=)
|
rs1563513242
|
|
NM_002485.5(NBN):c.2007del (p.Arg670fs)
|
|
|
NM_002485.5(NBN):c.2008A>G (p.Arg670Gly)
|
rs876658488
|
|
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys)
|
rs1554556522
|
|
NM_002485.5(NBN):c.200C>T (p.Thr67Ile)
|
rs1015793589
|
|
NM_002485.5(NBN):c.2012A>C (p.Asn671Thr)
|
rs1563513183
|
|
NM_002485.5(NBN):c.2013T>C (p.Asn671=)
|
rs1586040407
|
|
NM_002485.5(NBN):c.2013T>G (p.Asn671Lys)
|
rs1586040407
|
|
NM_002485.5(NBN):c.2016A>C (p.Pro672=)
|
rs1061302
|
|
NM_002485.5(NBN):c.2016A>T (p.Pro672=)
|
|
|
NM_002485.5(NBN):c.2018C>A (p.Ser673Tyr)
|
|
|
NM_002485.5(NBN):c.2018C>G (p.Ser673Cys)
|
rs1810179050
|
|
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser)
|
rs1563513091
|
|
NM_002485.5(NBN):c.2021G>T (p.Gly674Val)
|
rs1563513080
|
|
NM_002485.5(NBN):c.2022C>T (p.Gly674=)
|
rs1554556503
|
|
NM_002485.5(NBN):c.2027A>G (p.Asn676Ser)
|
rs1404296922
|
|
NM_002485.5(NBN):c.2029GAT[1] (p.Asp678del)
|
rs1554556498
|
|
NM_002485.5(NBN):c.202T>G (p.Leu68Val)
|
rs1200599843
|
|
NM_002485.5(NBN):c.2030A>G (p.Asp677Gly)
|
rs2130763851
|
|
NM_002485.5(NBN):c.2030A>T (p.Asp677Val)
|
rs2130763851
|
|
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs)
|
rs1036111786
|
|
NM_002485.5(NBN):c.2031T>A (p.Asp677Glu)
|
|
|
NM_002485.5(NBN):c.2032G>T (p.Asp678Tyr)
|
|
|
NM_002485.5(NBN):c.2033A>G (p.Asp678Gly)
|
rs1810178166
|
|
NM_002485.5(NBN):c.2034T>C (p.Asp678=)
|
rs769252040
|
|
NM_002485.5(NBN):c.2039G>A (p.Gly680Asp)
|
|
|
NM_002485.5(NBN):c.2039G>T (p.Gly680Val)
|
rs1425101720
|
|
NM_002485.5(NBN):c.2040T>C (p.Gly680=)
|
|
|
NM_002485.5(NBN):c.2041C>G (p.Gln681Glu)
|
rs1554556485
|
|
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter)
|
rs1554556485
|
|
NM_002485.5(NBN):c.2044C>T (p.Leu682=)
|
rs1554556483
|
|
NM_002485.5(NBN):c.2045T>G (p.Leu682Arg)
|
|
|
NM_002485.5(NBN):c.2046A>G (p.Leu682=)
|
rs1554556481
|
|
NM_002485.5(NBN):c.2047A>T (p.Lys683Ter)
|
|
|
NM_002485.5(NBN):c.2048A>G (p.Lys683Arg)
|
rs2130763713
|
|
NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs)
|
rs1057516869
|
|
NM_002485.5(NBN):c.2049_2057del (p.Asn684_Lys686del)
|
rs2130763620
|
|
NM_002485.5(NBN):c.204A>G (p.Leu68=)
|
rs786201800
|
|
NM_002485.5(NBN):c.204A>T (p.Leu68Phe)
|
rs786201800
|
|
NM_002485.5(NBN):c.2050A>C (p.Asn684His)
|
rs1810176238
|
|
NM_002485.5(NBN):c.2051A>G (p.Asn684Ser)
|
rs1554556477
|
|
NM_002485.5(NBN):c.2051dup (p.Asn684fs)
|
rs1586040200
|
|
NM_002485.5(NBN):c.2053T>C (p.Phe685Leu)
|
rs768715280
|
|
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser)
|
rs1181142133
|
|
NM_002485.5(NBN):c.2055C>G (p.Phe685Leu)
|
rs765458801
|
|
NM_002485.5(NBN):c.2056A>G (p.Lys686Glu)
|
rs786203920
|
|
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter)
|
rs786203920
|
|
NM_002485.5(NBN):c.2058G>A (p.Lys686=)
|
rs2130763599
|
|
NM_002485.5(NBN):c.2058G>T (p.Lys686Asn)
|
rs2130763599
|
|
NM_002485.5(NBN):c.2059A>T (p.Lys687Ter)
|
rs2130763590
|
|
NM_002485.5(NBN):c.205_212del (p.Lys69fs)
|
rs2129915884
|
|
NM_002485.5(NBN):c.2063T>C (p.Phe688Ser)
|
rs1563512800
|
|
NM_002485.5(NBN):c.2063T>G (p.Phe688Cys)
|
rs1563512800
|
|
NM_002485.5(NBN):c.2064C>A (p.Phe688Leu)
|
|
|
NM_002485.5(NBN):c.2064C>G (p.Phe688Leu)
|
|
|
NM_002485.5(NBN):c.2065A>G (p.Lys689Glu)
|
rs1554556461
|
|
NM_002485.5(NBN):c.2066A>G (p.Lys689Arg)
|
rs1554556458
|
|
NM_002485.5(NBN):c.2067A>G (p.Lys689=)
|
|
|
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln)
|
rs587780092
|
|
NM_002485.5(NBN):c.2069del (p.Lys690fs)
|
|
|
NM_002485.5(NBN):c.2070+11C>T
|
|
|
NM_002485.5(NBN):c.2070+14C>T
|
|
|
NM_002485.5(NBN):c.2070+15T>C
|
|
|
NM_002485.5(NBN):c.2070+16G>A
|
rs1554556450
|
|
NM_002485.5(NBN):c.2070+16_2070+17del
|
|
|
NM_002485.5(NBN):c.2070+17dup
|
|
|
NM_002485.5(NBN):c.2070+18A>G
|
rs756636190
|
|
NM_002485.5(NBN):c.2070+19del
|
|
|
NM_002485.5(NBN):c.2070+1G>A
|
rs1554556454
|
|
NM_002485.5(NBN):c.2070+1G>T
|
rs1554556454
|
|
NM_002485.5(NBN):c.2070+2T>A
|
rs786203223
|
|
NM_002485.5(NBN):c.2070+2T>G
|
rs786203223
|
|
NM_002485.5(NBN):c.2070+3A>G
|
rs1810173321
|
|
NM_002485.5(NBN):c.2070+5G>A
|
rs1323512485
|
|
NM_002485.5(NBN):c.2070+5G>T
|
rs1323512485
|
|
NM_002485.5(NBN):c.2070+6T>C
|
rs1810172843
|
|
NM_002485.5(NBN):c.2070+8T>C
|
|
|
NM_002485.5(NBN):c.2070+9T>C
|
rs2130763437
|
|
NM_002485.5(NBN):c.2070G>A (p.Lys690=)
|
|
|
NM_002485.5(NBN):c.2070G>T (p.Lys690Asn)
|
rs1810173689
|
|
NM_002485.5(NBN):c.2071-1175_2184+2del
|
|
|
NM_002485.5(NBN):c.2071-12A>G
|
rs2130756398
|
|
NM_002485.5(NBN):c.2071-13del
|
rs2130756405
|
|
NM_002485.5(NBN):c.2071-14T>C
|
rs2130756415
|
|
NM_002485.5(NBN):c.2071-16T>A
|
|
|
NM_002485.5(NBN):c.2071-17C>T
|
rs776240552
|
|
NM_002485.5(NBN):c.2071-18A>G
|
rs2130756448
|
|
NM_002485.5(NBN):c.2071-1G>A
|
rs786201965
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
NM_002485.5(NBN):c.2071-1G>T
|
|
|
NM_002485.5(NBN):c.2071-20C>G
|
rs2130756452
|
|
NM_002485.5(NBN):c.2071-2A>C
|
rs775397477
|
|
NM_002485.5(NBN):c.2071-2A>G
|
rs775397477
|
|
NM_002485.5(NBN):c.2071-2A>T
|
|
|
NM_002485.5(NBN):c.2071-4A>T
|
rs746994234
|
|
NM_002485.5(NBN):c.2071-6C>A
|
rs768670249
|
|
NM_002485.5(NBN):c.2071-8T>C
|
rs1178683426
|
|
NM_002485.5(NBN):c.2071G>T (p.Val691Phe)
|
rs772059959
|
|
NM_002485.5(NBN):c.2071del
|
rs2130756322
|
|
NM_002485.5(NBN):c.2072T>G (p.Val691Gly)
|
rs1563508748
|
|
NM_002485.5(NBN):c.2073C>A (p.Val691=)
|
rs876658178
|
|
NM_002485.5(NBN):c.2074A>G (p.Thr692Ala)
|
|
|
NM_002485.5(NBN):c.2075C>T (p.Thr692Ile)
|
rs1060503474
|
|
NM_002485.5(NBN):c.2076A>G (p.Thr692=)
|
rs2130756258
|
|
NM_002485.5(NBN):c.2077dup (p.Tyr693fs)
|
|
|
NM_002485.5(NBN):c.2078A>G (p.Tyr693Cys)
|
rs1563508706
|
|
NM_002485.5(NBN):c.2079T>C (p.Tyr693=)
|
|
|
NM_002485.5(NBN):c.2080C>T (p.Pro694Ser)
|
rs1586035536
|
|
NM_002485.5(NBN):c.2081C>G (p.Pro694Arg)
|
rs746090959
|
|
NM_002485.5(NBN):c.2082T>C (p.Pro694=)
|
rs7823648
|
|
NM_002485.5(NBN):c.2083G>A (p.Gly695Arg)
|
rs1554555835
|
|
NM_002485.5(NBN):c.2083G>T (p.Gly695Ter)
|
rs1554555835
|
|
NM_002485.5(NBN):c.2084G>A (p.Gly695Glu)
|
rs1554555834
|
|
NM_002485.5(NBN):c.2085A>G (p.Gly695=)
|
rs2130756163
|
|
NM_002485.5(NBN):c.2086G>T (p.Ala696Ser)
|
rs749276965
|
|
NM_002485.5(NBN):c.2087C>T (p.Ala696Val)
|
rs1462278909
|
|
NM_002485.5(NBN):c.2088A>G (p.Ala696=)
|
|
|
NM_002485.5(NBN):c.2089G>T (p.Gly697Ter)
|
rs1038132485
|
|
NM_002485.5(NBN):c.208G>A (p.Asp70Asn)
|
rs560337591
|
|
NM_002485.5(NBN):c.208_209insTA (p.Asp70fs)
|
rs2129915990
|
|
NM_002485.5(NBN):c.2090G>A (p.Gly697Glu)
|
|
|
NM_002485.5(NBN):c.2091A>T (p.Gly697=)
|
|
|
NM_002485.5(NBN):c.2092A>G (p.Lys698Glu)
|
rs1586035456
|
|
NM_002485.5(NBN):c.2094A>G (p.Lys698=)
|
rs878854509
|
|
NM_002485.5(NBN):c.2096T>C (p.Leu699Pro)
|
rs1810039016
|
|
NM_002485.5(NBN):c.2097T>C (p.Leu699=)
|
rs1810038889
|
|
NM_002485.5(NBN):c.2097_2098del (p.Pro700fs)
|
rs2130756068
|
|
NM_002485.5(NBN):c.2097_2098insA (p.Pro700fs)
|
|
|
NM_002485.5(NBN):c.2097dup (p.Pro700fs)
|
|
|
NM_002485.5(NBN):c.2098C>A (p.Pro700Thr)
|
rs1060503461
|
|
NM_002485.5(NBN):c.2099C>T (p.Pro700Leu)
|
rs1367898317
|
|
NM_002485.5(NBN):c.2099del (p.Pro700fs)
|
rs1301956720
|
|
NM_002485.5(NBN):c.209A>G (p.Asp70Gly)
|
rs1586108952
|
|
NM_002485.5(NBN):c.20C>T (p.Ala7Val)
|
rs781057669
|
|
NM_002485.5(NBN):c.2100A>G (p.Pro700=)
|
rs2130756024
|
|
NM_002485.5(NBN):c.2101C>T (p.His701Tyr)
|
rs587781567
|
|
NM_002485.5(NBN):c.2102A>C (p.His701Pro)
|
|
|
NM_002485.5(NBN):c.2102del (p.His701fs)
|
rs1810038215
|
|
NM_002485.5(NBN):c.2103C>T (p.His701=)
|
rs753991062
|
|
NM_002485.5(NBN):c.2106C>A (p.Ile702=)
|
rs1398694666
|
|
NM_002485.5(NBN):c.2106C>T (p.Ile702=)
|
rs1398694666
|
|
NM_002485.5(NBN):c.2107A>G (p.Ile703Val)
|
rs942302974
|
|
NM_002485.5(NBN):c.2108T>C (p.Ile703Thr)
|
rs1554555819
|
|
NM_002485.5(NBN):c.2108T>G (p.Ile703Ser)
|
|
|
NM_002485.5(NBN):c.210T>C (p.Asp70=)
|
|
|
NM_002485.5(NBN):c.210T>G (p.Asp70Glu)
|
rs1554568357
|
|
NM_002485.5(NBN):c.210_211del (p.Asp70fs)
|
rs786202494
|
|
NM_002485.5(NBN):c.210_211dup (p.Asn71fs)
|
rs786202494
|
|
NM_002485.5(NBN):c.2110G>A (p.Gly704Arg)
|
rs1810037245
|
|
NM_002485.5(NBN):c.2114G>A (p.Gly705Glu)
|
rs1810037139
|
|
NM_002485.5(NBN):c.2118A>C (p.Ser706=)
|
rs2130755820
|
|
NM_002485.5(NBN):c.2119G>C (p.Asp707His)
|
|
|
NM_002485.5(NBN):c.2119_2141del (p.Asp707fs)
|
rs1554555782
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002485.5(NBN):c.2120_2128del (p.Asp707_Ile709del)
|
rs1563508381
|
|
NM_002485.5(NBN):c.2121T>A (p.Asp707Glu)
|
|
|
NM_002485.5(NBN):c.2122C>T (p.Leu708=)
|
rs756580887
|
|
NM_002485.5(NBN):c.2125_2127delinsCTG (p.Ile709Leu)
|
rs1586035313
|
|
NM_002485.5(NBN):c.2126T>C (p.Ile709Thr)
|
|
|
NM_002485.5(NBN):c.2127dup (p.Ala710fs)
|
|
|
NM_002485.5(NBN):c.2128G>C (p.Ala710Pro)
|
rs1554555808
|
|
NM_002485.5(NBN):c.2128_2132del (p.Ala710fs)
|
rs2130755743
|
|
NM_002485.5(NBN):c.212A>C (p.Asn71Thr)
|
|
|
NM_002485.5(NBN):c.212A>G (p.Asn71Ser)
|
|
|
NM_002485.5(NBN):c.212_215del (p.Asn71fs)
|
rs1064795634
|
|
NM_002485.5(NBN):c.2131C>T (p.His711Tyr)
|
rs780333168
|
|
NM_002485.5(NBN):c.2131CAT[1] (p.His712del)
|
rs786204096
|
|
NM_002485.5(NBN):c.2132_2133del (p.His711fs)
|
rs2130755717
|
|
NM_002485.5(NBN):c.2133T>C (p.His711=)
|
rs2130755705
|
|
NM_002485.5(NBN):c.2135A>G (p.His712Arg)
|
rs1361799559
|
|
NM_002485.5(NBN):c.2138C>A (p.Ala713Asp)
|
rs986903713
|
|
NM_002485.5(NBN):c.2138C>G (p.Ala713Gly)
|
rs986903713
|
|
NM_002485.5(NBN):c.2139_2140delinsCT (p.Arg714Ter)
|
|
|
NM_002485.5(NBN):c.2140C>A (p.Arg714=)
|
rs730881864
|
|
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)
|
rs730881864
|
|
NM_002485.5(NBN):c.2140_2143del (p.Lys715fs)
|
rs1810034093
|
|
NM_002485.5(NBN):c.2140del (p.Arg714fs)
|
rs1810034741
|
|
NM_002485.5(NBN):c.2141G>C (p.Arg714Pro)
|
rs753270166
|
|
NM_002485.5(NBN):c.2141_2142del (p.Arg714fs)
|
rs2130755572
|
|
NM_002485.5(NBN):c.2143A>C (p.Lys715Gln)
|
rs2130755556
|
|
NM_002485.5(NBN):c.2144A>G (p.Lys715Arg)
|
|
|
NM_002485.5(NBN):c.2144dup (p.Asn716fs)
|
rs1810033982
|
|
NM_002485.5(NBN):c.2145_2147delinsT (p.Lys715fs)
|
rs1810033651
|
|
NM_002485.5(NBN):c.214_215insGGAACCGCTCGGGGCAGC (p.Ser72delinsTrpAsnArgSerGlyGlnPro)
|
rs1554568352
|
|
NM_002485.5(NBN):c.214_216del (p.Ser72del)
|
|
|
NM_002485.5(NBN):c.2150C>G (p.Thr717Arg)
|
|
|
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile)
|
rs1554555764
|
|
NM_002485.5(NBN):c.2150_2157del (p.Thr717fs)
|
rs2130755422
|
|
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)
|
|
|
NM_002485.5(NBN):c.2152del (p.Glu718fs)
|
|
|
NM_002485.5(NBN):c.2154A>G (p.Glu718=)
|
rs2130755446
|
|
NM_002485.5(NBN):c.2154_2155insGGAA (p.Leu719fs)
|
rs2130755457
|
|
NM_002485.5(NBN):c.2155C>G (p.Leu719Val)
|
rs1563508063
|
|
NM_002485.5(NBN):c.2155_2156del (p.Leu719fs)
|
|
|
NM_002485.5(NBN):c.2155_2157dup (p.Leu719dup)
|
rs864622241
|
|
NM_002485.5(NBN):c.2156_2157insTT (p.Leu719_Glu720insTer)
|
|
|
NM_002485.5(NBN):c.2156dup (p.Glu720fs)
|
rs1586035111
|
|
NM_002485.5(NBN):c.2158G>A (p.Glu720Lys)
|
rs876660294
|
|
NM_002485.5(NBN):c.2158G>C (p.Glu720Gln)
|
rs876660294
|
|
NM_002485.5(NBN):c.215C>T (p.Ser72Phe)
|
rs1060503484
|
|
NM_002485.5(NBN):c.2160A>C (p.Glu720Asp)
|
rs1810032277
|
|
NM_002485.5(NBN):c.2160A>G (p.Glu720=)
|
|
|
NM_002485.5(NBN):c.2160dup (p.Glu721fs)
|
|
|
NM_002485.5(NBN):c.2161G>C (p.Glu721Gln)
|
rs1064795816
|
|
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)
|
rs1064795816
|
|
NM_002485.5(NBN):c.2162A>T (p.Glu721Val)
|
rs1554555751
|
|
NM_002485.5(NBN):c.2164T>A (p.Trp722Arg)
|
rs1554555748
|
|
NM_002485.5(NBN):c.2164T>G (p.Trp722Gly)
|
rs1554555748
|
|
NM_002485.5(NBN):c.2165G>A (p.Trp722Ter)
|
rs786204181
|
|
NM_002485.5(NBN):c.2166G>T (p.Trp722Cys)
|
rs1810031465
|
|
NM_002485.5(NBN):c.2167C>A (p.Leu723Ile)
|
rs759888769
|
|
NM_002485.5(NBN):c.2167C>G (p.Leu723Val)
|
rs759888769
|
|
NM_002485.5(NBN):c.2168T>C (p.Leu723Pro)
|
|
|
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs)
|
rs1554568348
|
|
NM_002485.5(NBN):c.2170A>G (p.Arg724Gly)
|
rs1586035037
|
|
NM_002485.5(NBN):c.2172G>A (p.Arg724=)
|
rs1057523944
|
|
NM_002485.5(NBN):c.2172_2173delinsTT (p.Arg724_Gln725delinsSerTer)
|
rs2130755275
|
|
NM_002485.5(NBN):c.2173C>T (p.Gln725Ter)
|
rs1810030774
|
|
NM_002485.5(NBN):c.2173del (p.Gln725fs)
|
rs2130755261
|
|
NM_002485.5(NBN):c.2174A>C (p.Gln725Pro)
|
rs878854510
|
|
NM_002485.5(NBN):c.2177A>C (p.Glu726Ala)
|
rs1554555736
|
|
NM_002485.5(NBN):c.2177A>G (p.Glu726Gly)
|
rs1554555736
|
|
NM_002485.5(NBN):c.2179A>G (p.Met727Val)
|
rs1554555732
|
|
NM_002485.5(NBN):c.217A>G (p.Lys73Glu)
|
|
|
NM_002485.5(NBN):c.217A>T (p.Lys73Ter)
|
rs2129915767
|
|
NM_002485.5(NBN):c.2181G>A (p.Met727Ile)
|
rs1586034984
|
|
NM_002485.5(NBN):c.2183A>T (p.Glu728Val)
|
rs1060503487
|
|
NM_002485.5(NBN):c.2184+12G>A
|
rs1402547304
|
|
NM_002485.5(NBN):c.2184+12del
|
|
|
NM_002485.5(NBN):c.2184+13T>A
|
rs1341774597
|
|
NM_002485.5(NBN):c.2184+16G>A
|
|
|
NM_002485.5(NBN):c.2184+18C>G
|
|
|
NM_002485.5(NBN):c.2184+19C>A
|
|
|
NM_002485.5(NBN):c.2184+19C>G
|
rs1007353959
|
|
NM_002485.5(NBN):c.2184+19C>T
|
rs1007353959
|
|
NM_002485.5(NBN):c.2184+1G>A
|
rs756363734
|
|
NM_002485.5(NBN):c.2184+20C>A
|
|
|
NM_002485.5(NBN):c.2184+2T>A
|
rs75823099
|
|
NM_002485.5(NBN):c.2184+2T>G
|
rs75823099
|
|
NM_002485.5(NBN):c.2184+5G>A
|
rs1563507830
|
|
NM_002485.5(NBN):c.2184+6T>A
|
rs1810029317
|
|
NM_002485.5(NBN):c.2184+8G>A
|
rs730881842
|
|
NM_002485.5(NBN):c.2184+9G>T
|
|
|
NM_002485.5(NBN):c.2184G>A (p.Glu728=)
|
rs1586034964
|
|
NM_002485.5(NBN):c.2184G>C (p.Glu728Asp)
|
rs1586034964
|
|
NM_002485.5(NBN):c.2185-13T>C
|
rs1285279553
|
|
NM_002485.5(NBN):c.2185-14G>C
|
rs2130739480
|
|
NM_002485.5(NBN):c.2185-16A>G
|
|
|
NM_002485.5(NBN):c.2185-17T>C
|
|
|
NM_002485.5(NBN):c.2185-1G>A
|
rs1057517262
|
|
NM_002485.5(NBN):c.2185-20A>C
|
|
|
NM_002485.5(NBN):c.2185-20_2185-4del
|
rs2130739432
|
|
NM_002485.5(NBN):c.2185-3C>T
|
rs1809726732
|
|
NM_002485.5(NBN):c.2185-5G>A
|
|
|
NM_002485.5(NBN):c.2185-7T>C
|
rs1563497932
|
|
NM_002485.5(NBN):c.2185-7T>G
|
rs1563497932
|
|
NM_002485.5(NBN):c.2186T>C (p.Val729Ala)
|
rs1809726528
|
|
NM_002485.5(NBN):c.2187dup (p.Gln730fs)
|
rs2130739402
|
|
NM_002485.5(NBN):c.2188C>A (p.Gln730Lys)
|
rs1554554267
|
|
NM_002485.5(NBN):c.2188C>T (p.Gln730Ter)
|
rs1554554267
|
|
NM_002485.5(NBN):c.2191A>T (p.Asn731Tyr)
|
rs369649307
|
|
NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)
|
rs1554554265
|
|
NM_002485.5(NBN):c.2198A>G (p.His733Arg)
|
rs998714046
|
|
NM_002485.5(NBN):c.2198dup (p.His733fs)
|
|
|
NM_002485.5(NBN):c.219G>A (p.Lys73=)
|
rs1586108899
|
|
NM_002485.5(NBN):c.21C>A (p.Ala7=)
|
rs370050587
|
|
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.2201C>G (p.Ala734Gly)
|
|
|
NM_002485.5(NBN):c.2204_2208del (p.Lys735fs)
|
rs2130739278
|
|
NM_002485.5(NBN):c.2205AGA[1] (p.Glu737del)
|
rs1554554251
|
|
NM_002485.5(NBN):c.2206G>C (p.Glu736Gln)
|
rs756831345
|
|
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter)
|
rs756831345
|
|
NM_002485.5(NBN):c.2206del (p.Glu736fs)
|
rs1809724889
|
|
NM_002485.5(NBN):c.220T>C (p.Tyr74His)
|
rs587780094
|
|
NM_002485.5(NBN):c.2210A>T (p.Glu737Val)
|
rs1554554247
|
|
NM_002485.5(NBN):c.2210_2211del (p.Glu737fs)
|
rs774508816
|
|
NM_002485.5(NBN):c.2211G>T (p.Glu737Asp)
|
rs753596803
|
|
NM_002485.5(NBN):c.2213C>T (p.Ser738Phe)
|
rs876659097
|
|
NM_002485.5(NBN):c.2214T>A (p.Ser738=)
|
|
|
NM_002485.5(NBN):c.2214T>C (p.Ser738=)
|
|
|
NM_002485.5(NBN):c.2215_2216del (p.Leu739fs)
|
rs1809723362
|
|
NM_002485.5(NBN):c.2215_2217del (p.Leu739del)
|
|
|
NM_002485.5(NBN):c.2216T>C (p.Leu739Pro)
|
rs2130739195
|
|
NM_002485.5(NBN):c.2217T>C (p.Leu739=)
|
rs760207156
|
|
NM_002485.5(NBN):c.2219C>A (p.Ala740Asp)
|
rs1554554240
|
|
NM_002485.5(NBN):c.2219C>T (p.Ala740Val)
|
rs1554554240
|
|
NM_002485.5(NBN):c.221A>G (p.Tyr74Cys)
|
rs1060503471
|
|
NM_002485.5(NBN):c.2221G>A (p.Asp741Asn)
|
rs1586024237
|
|
NM_002485.5(NBN):c.2221GAT[1] (p.Asp742del)
|
rs1421967400
|
|
NM_002485.5(NBN):c.2222A>T (p.Asp741Val)
|
|
|
NM_002485.5(NBN):c.2224G>A (p.Asp742Asn)
|
|
|
NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr)
|
rs746479577
|
|
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu)
|
rs767523514
|
|
NM_002485.5(NBN):c.2226_2234+4del
|
rs1563497529
|
|
NM_002485.5(NBN):c.2227C>A (p.Leu743Ile)
|
rs894189734
|
|
NM_002485.5(NBN):c.2227C>T (p.Leu743Phe)
|
rs894189734
|
|
NM_002485.5(NBN):c.2227_2228del (p.Leu743fs)
|
rs876659551
|
|
NM_002485.5(NBN):c.2228T>G (p.Leu743Arg)
|
|
|
NM_002485.5(NBN):c.222T>C (p.Tyr74=)
|
rs1563581193
|
|
NM_002485.5(NBN):c.222T>G (p.Tyr74Ter)
|
rs1563581193
|
|
NM_002485.5(NBN):c.2231T>G (p.Phe744Cys)
|
|
|
NM_002485.5(NBN):c.2232T>C (p.Phe744=)
|
|
|
NM_002485.5(NBN):c.2232del (p.Phe744fs)
|
rs1554554233
|
|
NM_002485.5(NBN):c.2234+12T>C
|
rs1057523867
|
|
NM_002485.5(NBN):c.2234+12T>G
|
|
|
NM_002485.5(NBN):c.2234+13T>C
|
rs2130739022
|
|
NM_002485.5(NBN):c.2234+14C>T
|
rs763071338
|
|
NM_002485.5(NBN):c.2234+16C>A
|
rs1563497498
|
|
NM_002485.5(NBN):c.2234+16C>T
|
rs1563497498
|
|
NM_002485.5(NBN):c.2234+17C>T
|
rs1057524773
|
|
NM_002485.5(NBN):c.2234+1G>A
|
rs1586024147
|
|
NM_002485.5(NBN):c.2234+1G>T
|
rs1586024147
|
|
NM_002485.5(NBN):c.2234+5A>C
|
rs1586024121
|
|
NM_002485.5(NBN):c.2234+5A>G
|
rs1586024121
|
|
NM_002485.5(NBN):c.2234+6G>C
|
|
|
NM_002485.5(NBN):c.2234+9T>C
|
rs1446505128
|
|
NM_002485.5(NBN):c.2235-11T>C
|
|
|
NM_002485.5(NBN):c.2235-12C>A
|
|
|
NM_002485.5(NBN):c.2235-12C>G
|
|
|
NM_002485.5(NBN):c.2235-12C>T
|
rs1554553904
|
|
NM_002485.5(NBN):c.2235-13del
|
|
|
NM_002485.5(NBN):c.2235-16A>C
|
rs1405688125
|
|
NM_002485.5(NBN):c.2235-16A>G
|
rs1405688125
|
|
NM_002485.5(NBN):c.2235-18C>G
|
|
|
NM_002485.5(NBN):c.2235-20C>T
|
|
|
NM_002485.5(NBN):c.2235-2A>G
|
rs767094704
|
|
NM_002485.5(NBN):c.2235-3C>T
|
rs1554553897
|
|
NM_002485.5(NBN):c.2235-5T>G
|
rs2130735796
|
|
NM_002485.5(NBN):c.2235-6T>C
|
|
|
NM_002485.5(NBN):c.2235-8_2235-5del
|
rs2130735801
|
|
NM_002485.5(NBN):c.2237A>G (p.Tyr746Cys)
|
rs1554553893
|
|
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)
|
rs751570713
|
|
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter)
|
rs751570713
|
|
NM_002485.5(NBN):c.2238C>T (p.Tyr746=)
|
rs751570713
|
|
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)
|
|
|
NM_002485.5(NBN):c.2239A>G (p.Asn747Asp)
|
|
|
NM_002485.5(NBN):c.2240A>G (p.Asn747Ser)
|
rs766237464
|
|
NM_002485.5(NBN):c.2240A>T (p.Asn747Ile)
|
rs766237464
|
|
NM_002485.5(NBN):c.2242C>T (p.Pro748Ser)
|
rs1809633675
|
|
NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe)
|
rs864622446
|
|
NM_002485.5(NBN):c.2250A>T (p.Leu750Phe)
|
rs1554553868
|
|
NM_002485.5(NBN):c.2255G>C (p.Arg752Thr)
|
|
|
NM_002485.5(NBN):c.2256G>A (p.Arg752=)
|
|
|
NM_002485.5(NBN):c.2256_2258del (p.Arg754del)
|
rs1809632212
|
|
NM_002485.5(NBN):c.2256del (p.Arg753fs)
|
rs1809632346
|
|
NM_002485.5(NBN):c.2258G>A (p.Arg753Lys)
|
rs773020664
|
|
NM_002485.5(NBN):c.2258G>C (p.Arg753Thr)
|
rs773020664
|
|
NM_002485.5(NBN):c.2259A>G (p.Arg753=)
|
rs765391308
|
|
NM_002485.5(NBN):c.225T>C (p.Gly75=)
|
|
|
NM_002485.5(NBN):c.2260A>C (p.Arg754=)
|
rs2130735641
|
|
NM_002485.5(NBN):c.2260A>G (p.Arg754Gly)
|
|
|
NM_002485.5(NBN):c.2263T>C (p.Ter755Gln)
|
rs1563495055
|
|
NM_002485.5(NBN):c.226dup (p.Thr76fs)
|
rs1554568340
|
|
NM_002485.5(NBN):c.227C>T (p.Thr76Ile)
|
rs587781412
|
|
NM_002485.5(NBN):c.228C>T (p.Thr76=)
|
rs1586108833
|
|
NM_002485.5(NBN):c.228_231dup (p.Val78fs)
|
rs2129915522
|
|
NM_002485.5(NBN):c.22G>A (p.Ala8Thr)
|
|
|
NM_002485.5(NBN):c.22G>C (p.Ala8Pro)
|
|
|
NM_002485.5(NBN):c.231T>A (p.Phe77Leu)
|
rs1554568336
|
|
NM_002485.5(NBN):c.231dup (p.Val78fs)
|
rs1586108827
|
|
NM_002485.5(NBN):c.232G>A (p.Val78Ile)
|
|
|
NM_002485.5(NBN):c.234T>C (p.Val78=)
|
|
|
NM_002485.5(NBN):c.235A>C (p.Asn79His)
|
rs786202749
|
|
NM_002485.5(NBN):c.235A>G (p.Asn79Asp)
|
rs786202749
|
|
NM_002485.5(NBN):c.23C>G (p.Ala8Gly)
|
rs1060503459
|
|
NM_002485.5(NBN):c.23C>T (p.Ala8Val)
|
rs1060503459
|
|
NM_002485.5(NBN):c.240G>A (p.Glu80=)
|
rs2129915401
|
|
NM_002485.5(NBN):c.241G>C (p.Glu81Gln)
|
rs1064795037
|
|
NM_002485.5(NBN):c.241G>T (p.Glu81Ter)
|
rs1064795037
|
|
NM_002485.5(NBN):c.242A>G (p.Glu81Gly)
|
rs786202085
|
|
NM_002485.5(NBN):c.242A>T (p.Glu81Val)
|
rs786202085
|
|
NM_002485.5(NBN):c.244A>G (p.Lys82Glu)
|
rs193921030
|
|
NM_002485.5(NBN):c.245A>G (p.Lys82Arg)
|
|
|
NM_002485.5(NBN):c.247A>G (p.Met83Val)
|
rs955258267
|
|
NM_002485.5(NBN):c.247A>T (p.Met83Leu)
|
rs955258267
|
|
NM_002485.5(NBN):c.247dup (p.Met83fs)
|
|
|
NM_002485.5(NBN):c.248T>A (p.Met83Lys)
|
rs940160589
|
|
NM_002485.5(NBN):c.249G>A (p.Met83Ile)
|
rs1438838735
|
|
NM_002485.5(NBN):c.24G>T (p.Ala8=)
|
rs779543740
|
|
NM_002485.5(NBN):c.250C>A (p.Gln84Lys)
|
rs1586108714
|
|
NM_002485.5(NBN):c.250C>T (p.Gln84Ter)
|
rs1586108714
|
|
NM_002485.5(NBN):c.256G>C (p.Gly86Arg)
|
rs2129915101
|
|
NM_002485.5(NBN):c.258C>T (p.Gly86=)
|
|
|
NM_002485.5(NBN):c.25G>A (p.Gly9Ser)
|
rs2129938127
|
|
NM_002485.5(NBN):c.260T>C (p.Phe87Ser)
|
rs786203573
|
|
NM_002485.5(NBN):c.263C>T (p.Ser88Phe)
|
rs1812059810
|
|
NM_002485.5(NBN):c.264C>T (p.Ser88=)
|
rs2129914967
|
|
NM_002485.5(NBN):c.266G>A (p.Arg89Gln)
|
rs747315554
|
|
NM_002485.5(NBN):c.267A>C (p.Arg89=)
|
rs1554568316
|
|
NM_002485.5(NBN):c.267A>G (p.Arg89=)
|
rs1554568316
|
|
NM_002485.5(NBN):c.269C>T (p.Thr90Ile)
|
rs1812059152
|
|
NM_002485.5(NBN):c.269del (p.Thr90fs)
|
|
|
NM_002485.5(NBN):c.26G>A (p.Gly9Asp)
|
|
|
NM_002485.5(NBN):c.26G>T (p.Gly9Val)
|
rs1554569664
|
|
NM_002485.5(NBN):c.26del (p.Gly9fs)
|
rs1060503485
|
|
NM_002485.5(NBN):c.270T>A (p.Thr90=)
|
rs776469548
|
|
NM_002485.5(NBN):c.270T>G (p.Thr90=)
|
rs776469548
|
|
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer)
|
rs1586108633
|
|
NM_002485.5(NBN):c.273G>A (p.Leu91=)
|
rs1586108624
|
|
NM_002485.5(NBN):c.275A>G (p.Lys92Arg)
|
rs1554568311
|
|
NM_002485.5(NBN):c.278C>A (p.Ser93Ter)
|
rs12721593
|
|
NM_002485.5(NBN):c.27C>T (p.Gly9=)
|
rs1554569662
|
|
NM_002485.5(NBN):c.280G>C (p.Gly94Arg)
|
rs1563580785
|
|
NM_002485.5(NBN):c.282G>C (p.Gly94=)
|
rs2129914580
|
|
NM_002485.5(NBN):c.283G>C (p.Asp95His)
|
rs61753720
|
|
NM_002485.5(NBN):c.283del (p.Asp95fs)
|
rs2129914556
|
|
NM_002485.5(NBN):c.289A>G (p.Ile97Val)
|
rs730881855
|
|
NM_002485.5(NBN):c.28C>A (p.Pro10Thr)
|
rs758228844
|
|
NM_002485.5(NBN):c.28C>G (p.Pro10Ala)
|
rs758228844
|
|
NM_002485.5(NBN):c.28C>T (p.Pro10Ser)
|
rs758228844
|
|
NM_002485.5(NBN):c.290T>C (p.Ile97Thr)
|
rs1554568295
|
|
NM_002485.5(NBN):c.291T>G (p.Ile97Met)
|
rs1812056882
|
|
NM_002485.5(NBN):c.292A>C (p.Thr98Pro)
|
rs1060503453
|
|
NM_002485.5(NBN):c.292A>G (p.Thr98Ala)
|
|
|
NM_002485.5(NBN):c.292dup (p.Thr98fs)
|
|
|
NM_002485.5(NBN):c.298G>T (p.Gly100Ter)
|
rs2129914287
|
|
NM_002485.5(NBN):c.299G>C (p.Gly100Ala)
|
rs2129914264
|
|
NM_002485.5(NBN):c.2T>C (p.Met1Thr)
|
rs746422391
|
|
NM_002485.5(NBN):c.302T>G (p.Val101Gly)
|
rs185493105
|
|
NM_002485.5(NBN):c.303G>A (p.Val101=)
|
|
|
NM_002485.5(NBN):c.303G>T (p.Val101=)
|
rs1554568287
|
|
NM_002485.5(NBN):c.304T>C (p.Phe102Leu)
|
rs1554568285
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.307G>A (p.Gly103Arg)
|
rs2129914127
|
|
NM_002485.5(NBN):c.307G>T (p.Gly103Ter)
|
|
|
NM_002485.5(NBN):c.308G>T (p.Gly103Val)
|
rs1554568272
|
|
NM_002485.5(NBN):c.309A>T (p.Gly103=)
|
rs2129914059
|
|
NM_002485.5(NBN):c.30G>A (p.Pro10=)
|
rs750391983
|
|
NM_002485.5(NBN):c.30G>C (p.Pro10=)
|
rs750391983
|
|
NM_002485.5(NBN):c.30G>T (p.Pro10=)
|
rs750391983
|
|
NM_002485.5(NBN):c.310A>G (p.Ser104Gly)
|
rs876658400
|
|
NM_002485.5(NBN):c.311G>C (p.Ser104Thr)
|
rs778943002
|
|
NM_002485.5(NBN):c.313A>T (p.Lys105Ter)
|
|
|
NM_002485.5(NBN):c.315A>G (p.Lys105=)
|
rs13312858
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.318C>G (p.Phe106Leu)
|
rs1161413131
|
|
NM_002485.5(NBN):c.31G>A (p.Ala11Thr)
|
|
|
NM_002485.5(NBN):c.320+12T>A
|
|
|
NM_002485.5(NBN):c.320+14A>G
|
|
|
NM_002485.5(NBN):c.320+16del
|
|
|
NM_002485.5(NBN):c.320+18del
|
|
|
NM_002485.5(NBN):c.320+19G>T
|
rs1298984330
|
|
NM_002485.5(NBN):c.320+19_320+20insTCC
|
|
|
NM_002485.5(NBN):c.320+1G>A
|
rs1364533250
|
|
NM_002485.5(NBN):c.320+40G>T
|
rs749797574
|
|
NM_002485.5(NBN):c.320+4A>G
|
|
|
NM_002485.5(NBN):c.320+5G>T
|
rs1563580422
|
|
NM_002485.5(NBN):c.320+7C>A
|
|
|
NM_002485.5(NBN):c.320+7C>T
|
|
|
NM_002485.5(NBN):c.320+8A>G
|
rs1057523296
|
|
NM_002485.5(NBN):c.320G>A (p.Arg107Lys)
|
rs1345924774
|
|
NM_002485.5(NBN):c.320G>C (p.Arg107Thr)
|
|
|
NM_002485.5(NBN):c.321-11_321-6del
|
rs1812035299
|
|
NM_002485.5(NBN):c.321-12T>C
|
rs1782883619
|
|
NM_002485.5(NBN):c.321-13T>C
|
rs1563579693
|
|
NM_002485.5(NBN):c.321-14A>C
|
|
|
NM_002485.5(NBN):c.321-16T>G
|
|
|
NM_002485.5(NBN):c.321-1G>A
|
|
|
NM_002485.5(NBN):c.321-20T>A
|
|
|
NM_002485.5(NBN):c.321-2A>G
|
rs587777931
|
|
NM_002485.5(NBN):c.321-3C>G
|
|
|
NM_002485.5(NBN):c.321-6T>C
|
|
|
NM_002485.5(NBN):c.321-6T>G
|
|
|
NM_002485.5(NBN):c.321-9C>T
|
rs760664393
|
|
NM_002485.5(NBN):c.321A>G (p.Arg107=)
|
rs1812034788
|
|
NM_002485.5(NBN):c.322A>C (p.Ile108Leu)
|
rs1286492027
|
|
NM_002485.5(NBN):c.324A>G (p.Ile108Met)
|
|
|
NM_002485.5(NBN):c.325G>A (p.Glu109Lys)
|
|
|
NM_002485.5(NBN):c.327G>A (p.Glu109=)
|
rs1554568031
|
|
NM_002485.5(NBN):c.327G>T (p.Glu109Asp)
|
|
|
NM_002485.5(NBN):c.330T>G (p.Tyr110Ter)
|
rs1057519585
|
|
NM_002485.5(NBN):c.330dup (p.Glu111Ter)
|
rs2129910887
|
|
NM_002485.5(NBN):c.331G>C (p.Glu111Gln)
|
|
|
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.335del (p.Pro112fs)
|
rs2129910740
|
|
NM_002485.5(NBN):c.337T>C (p.Leu113=)
|
rs2129910690
|
|
NM_002485.5(NBN):c.339G>A (p.Leu113=)
|
rs774622977
|
|
NM_002485.5(NBN):c.339G>T (p.Leu113Phe)
|
rs774622977
|
|
NM_002485.5(NBN):c.33A>G (p.Ala11=)
|
rs1554569661
|
|
NM_002485.5(NBN):c.340G>A (p.Val114Ile)
|
rs771034958
|
|
NM_002485.5(NBN):c.340G>T (p.Val114Phe)
|
rs771034958
|
|
NM_002485.5(NBN):c.341T>G (p.Val114Gly)
|
rs2129910604
|
|
NM_002485.5(NBN):c.342T>G (p.Val114=)
|
rs1563579495
|
|
NM_002485.5(NBN):c.343G>A (p.Ala115Thr)
|
rs876658434
|
|
NM_002485.5(NBN):c.343G>T (p.Ala115Ser)
|
rs876658434
|
|
NM_002485.5(NBN):c.346T>C (p.Cys116Arg)
|
rs1586107344
|
|
NM_002485.5(NBN):c.349T>A (p.Ser117Thr)
|
|
|
NM_002485.5(NBN):c.349T>C (p.Ser117Pro)
|
rs1563579445
|
|
NM_002485.5(NBN):c.34G>A (p.Gly12Arg)
|
rs878854511
|
|
NM_002485.5(NBN):c.350C>A (p.Ser117Tyr)
|
rs1060503468
|
|
NM_002485.5(NBN):c.350C>G (p.Ser117Cys)
|
rs1060503468
|
|
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)
|
rs730881841
|
|
NM_002485.5(NBN):c.351T>G (p.Ser117=)
|
rs1163807799
|
|
NM_002485.5(NBN):c.351_359del (p.Ser118_Leu120del)
|
rs2129910321
|
|
NM_002485.5(NBN):c.352del (p.Ser118fs)
|
rs2129910401
|
|
NM_002485.5(NBN):c.353C>T (p.Ser118Phe)
|
|
|
NM_002485.5(NBN):c.353del (p.Ser118fs)
|
|
|
NM_002485.5(NBN):c.355T>G (p.Cys119Gly)
|
|
|
NM_002485.5(NBN):c.356G>A (p.Cys119Tyr)
|
rs749272832
|
|
NM_002485.5(NBN):c.356G>C (p.Cys119Ser)
|
rs749272832
|
|
NM_002485.5(NBN):c.356G>T (p.Cys119Phe)
|
rs749272832
|
|
NM_002485.5(NBN):c.357T>C (p.Cys119=)
|
rs2129910339
|
|
NM_002485.5(NBN):c.359T>C (p.Leu120Ser)
|
rs1563579387
|
|
NM_002485.5(NBN):c.359T>G (p.Leu120Ter)
|
rs1563579387
|
|
NM_002485.5(NBN):c.35G>A (p.Gly12Glu)
|
rs730881860
|
|
NM_002485.5(NBN):c.35G>C (p.Gly12Ala)
|
rs730881860
|
|
NM_002485.5(NBN):c.35_37+10del
|
rs781710700
|
|
NM_002485.5(NBN):c.360A>G (p.Leu120=)
|
rs1563579373
|
|
NM_002485.5(NBN):c.362A>C (p.Asp121Ala)
|
|
|
NM_002485.5(NBN):c.362A>T (p.Asp121Val)
|
|
|
NM_002485.5(NBN):c.363T>A (p.Asp121Glu)
|
rs987369991
|
|
NM_002485.5(NBN):c.367T>G (p.Ser123Ala)
|
rs786203615
|
|
NM_002485.5(NBN):c.36A>C (p.Gly12=)
|
rs1554569658
|
|
NM_002485.5(NBN):c.36A>G (p.Gly12=)
|
rs1554569658
|
|
NM_002485.5(NBN):c.36A>T (p.Gly12=)
|
rs1554569658
|
|
NM_002485.5(NBN):c.37+10G>A
|
rs369408590
|
|
NM_002485.5(NBN):c.37+12A>C
|
rs771196279
|
|
NM_002485.5(NBN):c.37+12A>T
|
rs771196279
|
|
NM_002485.5(NBN):c.37+12dup
|
rs1563588481
|
|
NM_002485.5(NBN):c.37+13G>C
|
|
|
NM_002485.5(NBN):c.37+14G>A
|
|
|
NM_002485.5(NBN):c.37+14G>T
|
rs1275597923
|
|
NM_002485.5(NBN):c.37+16A>G
|
|
|
NM_002485.5(NBN):c.37+18G>A
|
|
|
NM_002485.5(NBN):c.37+18G>T
|
rs1812238225
|
|
NM_002485.5(NBN):c.37+19C>A
|
|
|
NM_002485.5(NBN):c.37+19C>T
|
rs1340137425
|
|
NM_002485.5(NBN):c.37+20C>T
|
rs2129937606
|
|
NM_002485.5(NBN):c.37+2dup
|
rs876658183
|
|
NM_002485.5(NBN):c.37+4A>C
|
rs1586115968
|
|
NM_002485.5(NBN):c.37+5G>T
|
rs116735828
|
|
NM_002485.5(NBN):c.37+6G>C
|
rs540868733
|
|
NM_002485.5(NBN):c.37+6G>T
|
rs540868733
|
|
NM_002485.5(NBN):c.37+8C>A
|
rs1554569655
|
|
NM_002485.5(NBN):c.37+8C>G
|
|
|
NM_002485.5(NBN):c.37+8C>T
|
rs1554569655
|
|
NM_002485.5(NBN):c.371G>A (p.Gly124Glu)
|
rs781671474
|
|
NM_002485.5(NBN):c.373A>C (p.Lys125Gln)
|
rs1563579253
|
|
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.377del (p.Thr126fs)
|
rs1554567972
|
|
NM_002485.5(NBN):c.378T>G (p.Thr126=)
|
rs1586107111
|
|
NM_002485.5(NBN):c.379_380delinsTA (p.Ala127Tyr)
|
|
|
NM_002485.5(NBN):c.38-10T>C
|
rs556807466
|
|
NM_002485.5(NBN):c.38-10T>G
|
|
|
NM_002485.5(NBN):c.38-10_38-9dup
|
rs2129926374
|
|
NM_002485.5(NBN):c.38-11A>T
|
rs770165601
|
|
NM_002485.5(NBN):c.38-11_38-10del
|
rs1812142541
|
|
NM_002485.5(NBN):c.38-11del
|
rs752004731
|
|
NM_002485.5(NBN):c.38-11dup
|
rs752004731
|
|
NM_002485.5(NBN):c.38-12A>C
|
|
|
NM_002485.5(NBN):c.38-12A>G
|
rs773524364
|
|
NM_002485.5(NBN):c.38-13A>T
|
|
|
NM_002485.5(NBN):c.38-14A>C
|
|
|
NM_002485.5(NBN):c.38-14A>T
|
|
|
NM_002485.5(NBN):c.38-14_38-11del
|
rs752004731
|
|
NM_002485.5(NBN):c.38-15A>C
|
|
|
NM_002485.5(NBN):c.38-19A>G
|
rs766849651
|
|
NM_002485.5(NBN):c.38-20del
|
rs757737980
|
|
NM_002485.5(NBN):c.38-20dup
|
rs757737980
|
|
NM_002485.5(NBN):c.38-2A>G
|
rs771475965
|
|
NM_002485.5(NBN):c.38-3C>G
|
rs876661099
|
|
NM_002485.5(NBN):c.38-3C>T
|
rs876661099
|
|
NM_002485.5(NBN):c.38-4T>C
|
|
|
NM_002485.5(NBN):c.38-6T>C
|
rs2129926315
|
|
NM_002485.5(NBN):c.38-7A>T
|
|
|
NM_002485.5(NBN):c.38-8T>A
|
rs62531987
|
|
NM_002485.5(NBN):c.38-9T>G
|
rs191514058
|
|
NM_002485.5(NBN):c.380C>G (p.Ala127Gly)
|
rs1554567966
|
|
NM_002485.5(NBN):c.380_383delinsAC (p.Ala127fs)
|
rs1554567960
|
|
NM_002485.5(NBN):c.383T>G (p.Leu128Ter)
|
rs1060503463
|
|
NM_002485.5(NBN):c.385A>C (p.Asn129His)
|
rs1060503477
|
|
NM_002485.5(NBN):c.385A>G (p.Asn129Asp)
|
rs1060503477
|
|
NM_002485.5(NBN):c.388C>G (p.Gln130Glu)
|
rs1586107038
|
|
NM_002485.5(NBN):c.38_40del
|
rs1350231265
|
|
NM_002485.5(NBN):c.390A>C (p.Gln130His)
|
|
|
NM_002485.5(NBN):c.391G>C (p.Ala131Pro)
|
|
|
NM_002485.5(NBN):c.392C>G (p.Ala131Gly)
|
rs1469136096
|
|
NM_002485.5(NBN):c.392C>T (p.Ala131Val)
|
rs1469136096
|
|
NM_002485.5(NBN):c.393T>C (p.Ala131=)
|
|
|
NM_002485.5(NBN):c.393T>G (p.Ala131=)
|
rs372061224
|
|
NM_002485.5(NBN):c.393_400del (p.Ile132fs)
|
rs2129909528
|
|
NM_002485.5(NBN):c.395T>C (p.Ile132Thr)
|
rs1563579078
|
|
NM_002485.5(NBN):c.396A>G (p.Ile132Met)
|
rs1060503462
|
|
NM_002485.5(NBN):c.396A>T (p.Ile132=)
|
rs1060503462
|
|
NM_002485.5(NBN):c.397T>C (p.Leu133=)
|
rs1229464840
|
|
NM_002485.5(NBN):c.399G>A (p.Leu133=)
|
rs2129909551
|
|
NM_002485.5(NBN):c.399G>T (p.Leu133Phe)
|
rs2129909551
|
|
NM_002485.5(NBN):c.39A>C (p.Gly13=)
|
rs876660470
|
|
NM_002485.5(NBN):c.39A>G (p.Gly13=)
|
rs876660470
|
|
NM_002485.5(NBN):c.3G>A (p.Met1Ile)
|
rs1554569682
|
|
NM_002485.5(NBN):c.401A>C (p.Gln134Pro)
|
|
|
NM_002485.5(NBN):c.401A>G (p.Gln134Arg)
|
rs1586106962
|
|
NM_002485.5(NBN):c.402A>G (p.Gln134=)
|
rs2129909448
|
|
NM_002485.5(NBN):c.403C>G (p.Leu135Val)
|
rs1409617560
|
|
NM_002485.5(NBN):c.403C>T (p.Leu135Phe)
|
|
|
NM_002485.5(NBN):c.405T>G (p.Leu135=)
|
rs1554567937
|
|
NM_002485.5(NBN):c.406G>A (p.Gly136Arg)
|
rs1554567936
|
|
NM_002485.5(NBN):c.407G>A (p.Gly136Glu)
|
rs1812025943
|
|
NM_002485.5(NBN):c.407dup (p.Gly137fs)
|
rs747462107
|
|
NM_002485.5(NBN):c.409G>A (p.Gly137Arg)
|
|
|
NM_002485.5(NBN):c.40G>A (p.Glu14Lys)
|
rs745439506
|
|
NM_002485.5(NBN):c.40G>C (p.Glu14Gln)
|
|
|
NM_002485.5(NBN):c.411A>T (p.Gly137=)
|
|
|
NM_002485.5(NBN):c.414T>C (p.Phe138=)
|
rs1554567933
|
|
NM_002485.5(NBN):c.416C>T (p.Thr139Ile)
|
rs2129909239
|
|
NM_002485.5(NBN):c.417T>C (p.Thr139=)
|
rs760586161
|
|
NM_002485.5(NBN):c.419T>C (p.Val140Ala)
|
rs752672571
|
|
NM_002485.5(NBN):c.421A>G (p.Asn141Asp)
|
rs2129909122
|
|
NM_002485.5(NBN):c.424A>G (p.Asn142Asp)
|
rs1586106848
|
|
NM_002485.5(NBN):c.429G>A (p.Trp143Ter)
|
rs1812023981
|
|
NM_002485.5(NBN):c.42A>G (p.Glu14=)
|
rs957561936
|
|
NM_002485.5(NBN):c.430A>G (p.Thr144Ala)
|
rs1812023859
|
|
NM_002485.5(NBN):c.431C>G (p.Thr144Arg)
|
rs1554567906
|
|
NM_002485.5(NBN):c.431C>T (p.Thr144Ile)
|
rs1554567906
|
|
NM_002485.5(NBN):c.432A>C (p.Thr144=)
|
rs886043003
|
|
NM_002485.5(NBN):c.432del (p.Glu145fs)
|
rs1554567902
|
|
NM_002485.5(NBN):c.436G>A (p.Glu146Lys)
|
rs1812023357
|
|
NM_002485.5(NBN):c.436G>T (p.Glu146Ter)
|
rs1812023357
|
|
NM_002485.5(NBN):c.438A>G (p.Glu146=)
|
rs2129908816
|
|
NM_002485.5(NBN):c.43C>T (p.Pro15Ser)
|
rs1563584802
|
|
NM_002485.5(NBN):c.440G>A (p.Cys147Tyr)
|
|
|
NM_002485.5(NBN):c.442A>G (p.Thr148Ala)
|
rs1060503479
|
|
NM_002485.5(NBN):c.442A>T (p.Thr148Ser)
|
rs1060503479
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
NM_002485.5(NBN):c.447C>A (p.His149Gln)
|
rs868089138
|
|
NM_002485.5(NBN):c.447C>T (p.His149=)
|
rs868089138
|
|
NM_002485.5(NBN):c.448del (p.Val151fs)
|
rs1563578727
|
|
NM_002485.5(NBN):c.449T>C (p.Leu150Pro)
|
|
|
NM_002485.5(NBN):c.44C>T (p.Pro15Leu)
|
rs1586112154
|
|
NM_002485.5(NBN):c.451G>T (p.Val151Phe)
|
rs587781549
|
|
NM_002485.5(NBN):c.453C>T (p.Val151=)
|
rs1176879721
|
|
NM_002485.5(NBN):c.454A>G (p.Met152Val)
|
rs1554567872
|
|
NM_002485.5(NBN):c.456G>T (p.Met152Ile)
|
|
|
NM_002485.5(NBN):c.458T>C (p.Val153Ala)
|
rs1554567865
|
|
NM_002485.5(NBN):c.459A>C (p.Val153=)
|
rs566630862
|
|
NM_002485.5(NBN):c.459A>G (p.Val153=)
|
rs566630862
|
|
NM_002485.5(NBN):c.45A>C (p.Pro15=)
|
rs577332041
|
|
NM_002485.5(NBN):c.462A>G (p.Ser154=)
|
rs1214415718
|
|
NM_002485.5(NBN):c.462A>T (p.Ser154=)
|
rs1214415718
|
|
NM_002485.5(NBN):c.468A>G (p.Lys156=)
|
|
|
NM_002485.5(NBN):c.468del (p.Val157fs)
|
rs1563578596
|
|
NM_002485.5(NBN):c.469G>A (p.Val157Ile)
|
rs1060503486
|
|
NM_002485.5(NBN):c.46_49del (p.Tyr16fs)
|
rs1812139426
|
|
NM_002485.5(NBN):c.471T>C (p.Val157=)
|
rs864622275
|
|
NM_002485.5(NBN):c.471T>G (p.Val157=)
|
rs864622275
|
|
NM_002485.5(NBN):c.472A>G (p.Thr158Ala)
|
|
|
NM_002485.5(NBN):c.472A>T (p.Thr158Ser)
|
rs2129908259
|
|
NM_002485.5(NBN):c.474del (p.Ile159fs)
|
rs1563578540
|
|
NM_002485.5(NBN):c.475A>G (p.Ile159Val)
|
rs747319065
|
|
NM_002485.5(NBN):c.47A>C (p.Tyr16Ser)
|
rs864622726
|
|
NM_002485.5(NBN):c.47A>G (p.Tyr16Cys)
|
rs864622726
|
|
NM_002485.5(NBN):c.47_51del (p.Tyr16fs)
|
|
|
NM_002485.5(NBN):c.480+10A>G
|
rs878854512
|
|
NM_002485.5(NBN):c.480+10del
|
rs1812019032
|
|
NM_002485.5(NBN):c.480+12G>A
|
rs755689211
|
|
NM_002485.5(NBN):c.480+14C>A
|
|
|
NM_002485.5(NBN):c.480+14C>G
|
|
|
NM_002485.5(NBN):c.480+15T>C
|
rs1554567838
|
|
NM_002485.5(NBN):c.480+18T>A
|
|
|
NM_002485.5(NBN):c.480+2T>G
|
|
|
NM_002485.5(NBN):c.480+3A>G
|
rs756817252
|
|
NM_002485.5(NBN):c.480+3A>T
|
rs756817252
|
|
NM_002485.5(NBN):c.480+4G>T
|
rs1812019530
|
|
NM_002485.5(NBN):c.480+5G>A
|
rs753578226
|
|
NM_002485.5(NBN):c.480+7T>C
|
rs1554567841
|
|
NM_002485.5(NBN):c.480+7T>G
|
rs1554567841
|
|
NM_002485.5(NBN):c.480+8G>A
|
rs777117690
|
|
NM_002485.5(NBN):c.480+8G>T
|
|
|
NM_002485.5(NBN):c.480+9A>G
|
|
|
NM_002485.5(NBN):c.480A>G (p.Lys160=)
|
rs1554567842
|
|
NM_002485.5(NBN):c.481-11C>T
|
rs2129890419
|
|
NM_002485.5(NBN):c.481-17T>C
|
|
|
NM_002485.5(NBN):c.481-18A>T
|
|
|
NM_002485.5(NBN):c.481-2A>C
|
rs751567476
|
|
NM_002485.5(NBN):c.481-2A>G
|
rs751567476
|
|
NM_002485.5(NBN):c.481-3T>C
|
rs1060503456
|
|
NM_002485.5(NBN):c.481-5T>C
|
rs2129890359
|
|
NM_002485.5(NBN):c.481-7A>C
|
rs2129890380
|
|
NM_002485.5(NBN):c.481-7A>G
|
rs2129890380
|
|
NM_002485.5(NBN):c.483A>C (p.Thr161=)
|
|
|
NM_002485.5(NBN):c.484A>C (p.Ile162Leu)
|
rs750594114
|
|
NM_002485.5(NBN):c.485T>A (p.Ile162Lys)
|
rs1554566766
|
|
NM_002485.5(NBN):c.486A>G (p.Ile162Met)
|
rs1554566760
|
|
NM_002485.5(NBN):c.489T>A (p.Cys163Ter)
|
|
|
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter)
|
rs2129926091
|
|
NM_002485.5(NBN):c.48C>T (p.Tyr16=)
|
rs2129926091
|
|
NM_002485.5(NBN):c.48_49del (p.Tyr16_Arg17delinsTer)
|
|
|
NM_002485.5(NBN):c.490G>A (p.Ala164Thr)
|
rs786201252
|
|
NM_002485.5(NBN):c.492A>G (p.Ala164=)
|
rs765493509
|
|
NM_002485.5(NBN):c.492dup (p.Leu165fs)
|
rs1586101609
|
|
NM_002485.5(NBN):c.494T>G (p.Leu165Arg)
|
rs1060503458
|
|
NM_002485.5(NBN):c.495C>A (p.Leu165=)
|
|
|
NM_002485.5(NBN):c.495C>T (p.Leu165=)
|
rs764290829
|
|
NM_002485.5(NBN):c.496_512del (p.Ile166fs)
|
rs758830069
|
|
NM_002485.5(NBN):c.498T>C (p.Ile166=)
|
|
|
NM_002485.5(NBN):c.499T>A (p.Cys167Ser)
|
rs1586101551
|
|
NM_002485.5(NBN):c.499dup (p.Cys167fs)
|
rs1586101561
|
|
NM_002485.5(NBN):c.4del (p.Trp2fs)
|
rs1275657359
|
|
NM_002485.5(NBN):c.503G>A (p.Gly168Glu)
|
rs1554566728
|
|
NM_002485.5(NBN):c.504A>C (p.Gly168=)
|
rs1057521464
|
|
NM_002485.5(NBN):c.504A>G (p.Gly168=)
|
rs1057521464
|
|
NM_002485.5(NBN):c.504A>T (p.Gly168=)
|
|
|
NM_002485.5(NBN):c.508C>G (p.Pro170Ala)
|
rs1554566720
|
|
NM_002485.5(NBN):c.511A>C (p.Ile171Leu)
|
rs61754966
|
|
NM_002485.5(NBN):c.512T>G (p.Ile171Ser)
|
|
|
NM_002485.5(NBN):c.515T>C (p.Val172Ala)
|
rs1554566701
|
|
NM_002485.5(NBN):c.516A>G (p.Val172=)
|
rs2129889397
|
|
NM_002485.5(NBN):c.517A>G (p.Lys173Glu)
|
rs1563574056
|
|
NM_002485.5(NBN):c.519G>C (p.Lys173Asn)
|
|
|
NM_002485.5(NBN):c.51A>G (p.Arg17=)
|
|
|
NM_002485.5(NBN):c.520_521insT (p.Pro174fs)
|
rs2129889298
|
|
NM_002485.5(NBN):c.523G>C (p.Glu175Gln)
|
rs730881861
|
|
NM_002485.5(NBN):c.525A>C (p.Glu175Asp)
|
|
|
NM_002485.5(NBN):c.526T>A (p.Tyr176Asn)
|
|
|
NM_002485.5(NBN):c.527_538del (p.Tyr176_Glu179del)
|
rs1811866878
|
|
NM_002485.5(NBN):c.528T>C (p.Tyr176=)
|
rs2129889177
|
|
NM_002485.5(NBN):c.529T>G (p.Phe177Val)
|
rs2129889154
|
|
NM_002485.5(NBN):c.530T>C (p.Phe177Ser)
|
rs1064796090
|
|
NM_002485.5(NBN):c.530_531del (p.Phe177fs)
|
|
|
NM_002485.5(NBN):c.531del (p.Phe177fs)
|
rs1057516787
|
|
NM_002485.5(NBN):c.532A>C (p.Thr178Pro)
|
|
|
NM_002485.5(NBN):c.532A>G (p.Thr178Ala)
|
rs2129889032
|
|
NM_002485.5(NBN):c.534T>A (p.Thr178=)
|
rs2129888979
|
|
NM_002485.5(NBN):c.535G>A (p.Glu179Lys)
|
rs1293382034
|
|
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs)
|
rs1554566678
|
|
NM_002485.5(NBN):c.536A>T (p.Glu179Val)
|
rs864622578
|
|
NM_002485.5(NBN):c.537A>C (p.Glu179Asp)
|
rs1554566673
|
|
NM_002485.5(NBN):c.537A>T (p.Glu179Asp)
|
rs1554566673
|
|
NM_002485.5(NBN):c.539T>G (p.Phe180Cys)
|
rs1060503457
|
|
NM_002485.5(NBN):c.540C>T (p.Phe180=)
|
rs1060504928
|
|
NM_002485.5(NBN):c.541C>A (p.Leu181Met)
|
rs1060504930
|
|
NM_002485.5(NBN):c.541C>T (p.Leu181=)
|
rs1060504930
|
|
NM_002485.5(NBN):c.543G>A (p.Leu181=)
|
rs876660833
|
|
NM_002485.5(NBN):c.548del (p.Ala183fs)
|
|
|
NM_002485.5(NBN):c.549A>G (p.Ala183=)
|
rs780661058
|
|
NM_002485.5(NBN):c.550G>A (p.Val184Ile)
|
rs1554566641
|
|
NM_002485.5(NBN):c.550G>T (p.Val184Phe)
|
rs1554566641
|
|
NM_002485.5(NBN):c.551T>C (p.Val184Ala)
|
rs1811865315
|
|
NM_002485.5(NBN):c.551T>G (p.Val184Gly)
|
|
|
NM_002485.5(NBN):c.552_556del (p.Glu185fs)
|
rs2129888420
|
|
NM_002485.5(NBN):c.553_554delinsCG (p.Glu185Arg)
|
|
|
NM_002485.5(NBN):c.554A>G (p.Glu185Gly)
|
|
|
NM_002485.5(NBN):c.556T>A (p.Ser186Thr)
|
rs1586101246
|
|
NM_002485.5(NBN):c.557C>T (p.Ser186Phe)
|
|
|
NM_002485.5(NBN):c.559A>C (p.Lys187Gln)
|
rs1554566633
|
|
NM_002485.5(NBN):c.559A>G (p.Lys187Glu)
|
rs1554566633
|
|
NM_002485.5(NBN):c.55T>C (p.Leu19=)
|
rs1586112097
|
|
NM_002485.5(NBN):c.55T>G (p.Leu19Val)
|
rs1586112097
|
|
NM_002485.5(NBN):c.55_56del (p.Leu19fs)
|
rs876659305
|
|
NM_002485.5(NBN):c.562A>C (p.Lys188Gln)
|
rs1060503476
|
|
NM_002485.5(NBN):c.565C>G (p.Gln189Glu)
|
rs1198614767
|
|
NM_002485.5(NBN):c.565C>T (p.Gln189Ter)
|
rs1198614767
|
|
NM_002485.5(NBN):c.565del (p.Gln189fs)
|
rs1811864250
|
|
NM_002485.5(NBN):c.568C>G (p.Pro190Ala)
|
rs1554566620
|
|
NM_002485.5(NBN):c.568C>T (p.Pro190Ser)
|
rs1554566620
|
|
NM_002485.5(NBN):c.56del (p.Leu18_Leu19insTer)
|
rs876659305
|
|
NM_002485.5(NBN):c.570T>A (p.Pro190=)
|
|
|
NM_002485.5(NBN):c.570T>C (p.Pro190=)
|
rs1811863524
|
|
NM_002485.5(NBN):c.571C>T (p.Pro191Ser)
|
rs2129888034
|
|
NM_002485.5(NBN):c.572C>T (p.Pro191Leu)
|
rs876661071
|
|
NM_002485.5(NBN):c.575A>G (p.Gln192Arg)
|
|
|
NM_002485.5(NBN):c.576A>G (p.Gln192=)
|
rs2129887922
|
|
NM_002485.5(NBN):c.578T>C (p.Ile193Thr)
|
rs1586101162
|
|
NM_002485.5(NBN):c.579T>C (p.Ile193=)
|
|
|
NM_002485.5(NBN):c.580G>A (p.Glu194Lys)
|
rs1554566610
|
|
NM_002485.5(NBN):c.580G>T (p.Glu194Ter)
|
rs1554566610
|
|
NM_002485.5(NBN):c.580del (p.Glu194fs)
|
|
|
NM_002485.5(NBN):c.582A>G (p.Glu194=)
|
rs2129887820
|
|
NM_002485.5(NBN):c.584+10G>A
|
rs780093985
|
|
NM_002485.5(NBN):c.584+14T>G
|
|
|
NM_002485.5(NBN):c.584+15T>G
|
|
|
NM_002485.5(NBN):c.584+17A>G
|
|
|
NM_002485.5(NBN):c.584+19A>T
|
rs1187374555
|
|
NM_002485.5(NBN):c.584+1G>A
|
rs1811862598
|
|
NM_002485.5(NBN):c.584+1G>T
|
|
|
NM_002485.5(NBN):c.584+20T>C
|
rs2129887517
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
NM_002485.5(NBN):c.584+5A>G
|
rs1309889719
|
|
NM_002485.5(NBN):c.584+6T>C
|
rs1554566602
|
|
NM_002485.5(NBN):c.584+7T>A
|
rs1057523869
|
|
NM_002485.5(NBN):c.584+7_584+9del
|
rs1586101102
|
|
NM_002485.5(NBN):c.584+8A>G
|
rs1554566597
|
|
NM_002485.5(NBN):c.584+8A>T
|
|
|
NM_002485.5(NBN):c.584+9T>A
|
rs746913991
|
|
NM_002485.5(NBN):c.584G>A (p.Ser195Asn)
|
rs1811862674
|
|
NM_002485.5(NBN):c.585-13A>G
|
rs980972703
|
|
NM_002485.5(NBN):c.585-16T>A
|
rs2129840149
|
|
NM_002485.5(NBN):c.585-18C>T
|
rs1811509460
|
|
NM_002485.5(NBN):c.585-18del
|
|
|
NM_002485.5(NBN):c.585-1G>A
|
rs1394578008
|
|
NM_002485.5(NBN):c.585-1_585delinsC
|
rs786203662
|
|
NM_002485.5(NBN):c.585-20T>C
|
rs1162395270
|
|
NM_002485.5(NBN):c.585-2A>G
|
rs772005832
|
|
NM_002485.5(NBN):c.585-3C>A
|
rs779430868
|
|
NM_002485.5(NBN):c.585-3C>T
|
rs779430868
|
|
NM_002485.5(NBN):c.585-3del
|
rs2129839997
|
|
NM_002485.5(NBN):c.585-5T>A
|
rs1586088968
|
|
NM_002485.5(NBN):c.585-7T>C
|
|
|
NM_002485.5(NBN):c.587T>A (p.Phe196Tyr)
|
rs1811508521
|
|
NM_002485.5(NBN):c.589del (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.589dup (p.Tyr197fs)
|
rs1586088924
|
|
NM_002485.5(NBN):c.590A>C (p.Tyr197Ser)
|
rs1563562194
|
|
NM_002485.5(NBN):c.590A>G (p.Tyr197Cys)
|
rs1563562194
|
|
NM_002485.5(NBN):c.590dup (p.Tyr197Ter)
|
rs1554564309
|
|
NM_002485.5(NBN):c.591C>T (p.Tyr197=)
|
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
NM_002485.5(NBN):c.592C>T (p.Pro198Ser)
|
rs1554564306
|
|
NM_002485.5(NBN):c.593C>G (p.Pro198Arg)
|
rs951997505
|
|
NM_002485.5(NBN):c.593C>T (p.Pro198Leu)
|
rs951997505
|
|
NM_002485.5(NBN):c.596C>T (p.Pro199Leu)
|
rs730881844
|
|
NM_002485.5(NBN):c.598C>T (p.Leu200Phe)
|
rs2129839627
|
|
NM_002485.5(NBN):c.599T>C (p.Leu200Pro)
|
|
|
NM_002485.5(NBN):c.59C>T (p.Thr20Ile)
|
rs1563584711
|
|
NM_002485.5(NBN):c.5G>A (p.Trp2Ter)
|
rs1812244679
|
|
NM_002485.5(NBN):c.600TGA[1] (p.Asp201del)
|
rs755050499
|
|
NM_002485.5(NBN):c.601G>C (p.Asp201His)
|
rs757186245
|
|
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.603T>G (p.Asp201Glu)
|
rs2129839451
|
|
NM_002485.5(NBN):c.604G>A (p.Glu202Lys)
|
rs1811506628
|
|
NM_002485.5(NBN):c.604G>T (p.Glu202Ter)
|
rs1811506628
|
|
NM_002485.5(NBN):c.606A>G (p.Glu202=)
|
rs1554564292
|
|
NM_002485.5(NBN):c.607C>A (p.Pro203Thr)
|
rs1554564291
|
|
NM_002485.5(NBN):c.609A>G (p.Pro203=)
|
rs778083915
|
|
NM_002485.5(NBN):c.60T>C (p.Thr20=)
|
|
|
NM_002485.5(NBN):c.610T>C (p.Ser204Pro)
|
rs2129839225
|
|
NM_002485.5(NBN):c.611C>G (p.Ser204Cys)
|
rs876659478
|
|
NM_002485.5(NBN):c.611C>T (p.Ser204Phe)
|
rs876659478
|
|
NM_002485.5(NBN):c.614T>C (p.Ile205Thr)
|
rs786203215
|
|
NM_002485.5(NBN):c.615T>C (p.Ile205=)
|
rs2129839117
|
|
NM_002485.5(NBN):c.618A>G (p.Gly206=)
|
rs1554564281
|
|
NM_002485.5(NBN):c.619A>G (p.Ser207Gly)
|
rs2129839074
|
|
NM_002485.5(NBN):c.622A>G (p.Lys208Glu)
|
|
|
NM_002485.5(NBN):c.626del (p.Asn209fs)
|
rs2129838943
|
|
NM_002485.5(NBN):c.628G>A (p.Val210Ile)
|
rs61754796
|
|
NM_002485.5(NBN):c.628G>C (p.Val210Leu)
|
rs61754796
|
|
NM_002485.5(NBN):c.630T>A (p.Val210=)
|
rs2129838835
|
|
NM_002485.5(NBN):c.630T>C (p.Val210=)
|
|
|
NM_002485.5(NBN):c.631G>C (p.Asp211His)
|
rs752104183
|
|
NM_002485.5(NBN):c.633T>C (p.Asp211=)
|
rs377700348
|
|
NM_002485.5(NBN):c.634C>A (p.Leu212Met)
|
rs1563561889
|
|
NM_002485.5(NBN):c.635T>C (p.Leu212Pro)
|
|
|
NM_002485.5(NBN):c.635T>G (p.Leu212Arg)
|
rs2129838690
|
|
NM_002485.5(NBN):c.636G>A (p.Leu212=)
|
|
|
NM_002485.5(NBN):c.636G>C (p.Leu212=)
|
rs1811504066
|
|
NM_002485.5(NBN):c.639A>C (p.Ser213=)
|
rs1335414652
|
|
NM_002485.5(NBN):c.63C>A (p.Gly21=)
|
|
|
NM_002485.5(NBN):c.63C>G (p.Gly21=)
|
|
|
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.642A>G (p.Gly214=)
|
rs763363235
|
|
NM_002485.5(NBN):c.645G>T (p.Arg215=)
|
rs2129838464
|
|
NM_002485.5(NBN):c.648G>A (p.Gln216=)
|
rs786201883
|
|
NM_002485.5(NBN):c.649G>T (p.Glu217Ter)
|
|
|
NM_002485.5(NBN):c.64G>T (p.Val22Phe)
|
rs369910645
|
|
NM_002485.5(NBN):c.653G>T (p.Arg218Ile)
|
rs786202250
|
|
NM_002485.5(NBN):c.654A>G (p.Arg218=)
|
|
|
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.658_660del (p.Gln220del)
|
rs1563561699
|
|
NM_002485.5(NBN):c.661A>G (p.Ile221Val)
|
rs2129838150
|
|
NM_002485.5(NBN):c.662T>C (p.Ile221Thr)
|
rs1187082186
|
|
NM_002485.5(NBN):c.664T>A (p.Phe222Ile)
|
|
|
NM_002485.5(NBN):c.667A>C (p.Lys223Gln)
|
rs1811500671
|
|
NM_002485.5(NBN):c.667A>G (p.Lys223Glu)
|
|
|
NM_002485.5(NBN):c.667_668insTTTATATTTTTATTATATAAAATATAATAAAGAAAACATTTATATTTTATAATATAAAAATATTATATTATATATAAAATATAATAAAGAAAACATTATATA (p.Lys223delinsIleTyrIlePheIleIleTer)
|
|
|
NM_002485.5(NBN):c.668A>G (p.Lys223Arg)
|
rs530438634
|
|
NM_002485.5(NBN):c.672G>A (p.Gly224=)
|
rs1554564220
|
|
NM_002485.5(NBN):c.673A>G (p.Lys225Glu)
|
rs2129837868
|
|
NM_002485.5(NBN):c.675A>G (p.Lys225=)
|
rs2129837838
|
|
NM_002485.5(NBN):c.676del (p.Thr226fs)
|
rs1563561558
|
|
NM_002485.5(NBN):c.677C>T (p.Thr226Ile)
|
rs1554564219
|
|
NM_002485.5(NBN):c.678A>G (p.Thr226=)
|
rs878854513
|
|
NM_002485.5(NBN):c.680T>C (p.Phe227Ser)
|
rs749025721
|
|
NM_002485.5(NBN):c.680T>G (p.Phe227Cys)
|
rs749025721
|
|
NM_002485.5(NBN):c.681del (p.Phe227fs)
|
rs1057519586
|
|
NM_002485.5(NBN):c.682A>G (p.Ile228Val)
|
rs1204337347
|
|
NM_002485.5(NBN):c.684A>G (p.Ile228Met)
|
rs1064793416
|
|
NM_002485.5(NBN):c.687T>G (p.Phe229Leu)
|
rs876660152
|
|
NM_002485.5(NBN):c.68del (p.Glu23fs)
|
|
|
NM_002485.5(NBN):c.690G>A (p.Leu230=)
|
rs2129837575
|
|
NM_002485.5(NBN):c.692A>C (p.Asn231Thr)
|
rs1309274168
|
|
NM_002485.5(NBN):c.693T>C (p.Asn231=)
|
rs878854514
|
|
NM_002485.5(NBN):c.694G>A (p.Ala232Thr)
|
rs878854515
|
|
NM_002485.5(NBN):c.697A>C (p.Lys233Gln)
|
rs1554564205
|
|
NM_002485.5(NBN):c.697A>G (p.Lys233Glu)
|
|
|
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.700C>T (p.Gln234Ter)
|
|
|
NM_002485.5(NBN):c.701A>G (p.Gln234Arg)
|
rs1586088352
|
|
NM_002485.5(NBN):c.702+13T>A
|
|
|
NM_002485.5(NBN):c.702+16_702+17delinsAA
|
rs2129836999
|
|
NM_002485.5(NBN):c.702+1G>A
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+1G>C
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+1G>T
|
rs1057517104
|
|
NM_002485.5(NBN):c.702+1del
|
rs1586088347
|
|
NM_002485.5(NBN):c.702+2T>A
|
rs1811497703
|
|
NM_002485.5(NBN):c.702+2T>C
|
rs1811497703
|
|
NM_002485.5(NBN):c.702+2del
|
|
|
NM_002485.5(NBN):c.702+3A>G
|
rs1586088320
|
|
NM_002485.5(NBN):c.702+4del
|
rs1554564199
|
|
NM_002485.5(NBN):c.702+7A>C
|
rs864622602
|
|
NM_002485.5(NBN):c.702+7A>G
|
rs864622602
|
|
NM_002485.5(NBN):c.702+8T>C
|
rs1563561325
|
|
NM_002485.5(NBN):c.702+8T>G
|
|
|
NM_002485.5(NBN):c.702+9_702+13del
|
|
|
NM_002485.5(NBN):c.703-12T>A
|
|
|
NM_002485.5(NBN):c.703-13C>A
|
rs2129832119
|
|
NM_002485.5(NBN):c.703-13C>T
|
rs2129832119
|
|
NM_002485.5(NBN):c.703-17T>A
|
|
|
NM_002485.5(NBN):c.703-20dup
|
rs1811468528
|
|
NM_002485.5(NBN):c.703-3T>C
|
rs876659566
|
|
NM_002485.5(NBN):c.703-3dup
|
rs1811467593
|
|
NM_002485.5(NBN):c.703-4T>C
|
rs2129832051
|
|
NM_002485.5(NBN):c.703-6T>G
|
rs1563560265
|
|
NM_002485.5(NBN):c.703-7T>C
|
|
|
NM_002485.5(NBN):c.703-8A>T
|
rs1563560271
|
|
NM_002485.5(NBN):c.703-9C>T
|
rs1586087235
|
|
NM_002485.5(NBN):c.703-9del
|
|
|
NM_002485.5(NBN):c.703C>G (p.His235Asp)
|
rs1554564044
|
|
NM_002485.5(NBN):c.704A>G (p.His235Arg)
|
rs769519885
|
|
NM_002485.5(NBN):c.705T>A (p.His235Gln)
|
rs1586087184
|
|
NM_002485.5(NBN):c.705T>G (p.His235Gln)
|
|
|
NM_002485.5(NBN):c.706A>G (p.Lys236Glu)
|
rs1060503482
|
|
NM_002485.5(NBN):c.707A>G (p.Lys236Arg)
|
rs1811466882
|
|
NM_002485.5(NBN):c.708G>T (p.Lys236Asn)
|
rs1811466776
|
|
NM_002485.5(NBN):c.710A>G (p.Lys237Arg)
|
rs2129831599
|
|
NM_002485.5(NBN):c.711A>G (p.Lys237=)
|
|
|
NM_002485.5(NBN):c.712T>C (p.Leu238=)
|
rs748400884
|
|
NM_002485.5(NBN):c.713T>C (p.Leu238Ser)
|
rs1358736677
|
|
NM_002485.5(NBN):c.714G>T (p.Leu238Phe)
|
rs1811466265
|
|
NM_002485.5(NBN):c.715A>C (p.Ser239Arg)
|
rs587781868
|
|
NM_002485.5(NBN):c.715A>G (p.Ser239Gly)
|
rs587781868
|
|
NM_002485.5(NBN):c.71A>C (p.Tyr24Ser)
|
rs1812137176
|
|
NM_002485.5(NBN):c.71A>G (p.Tyr24Cys)
|
|
|
NM_002485.5(NBN):c.721G>C (p.Ala241Pro)
|
rs587781333
|
|
NM_002485.5(NBN):c.721G>T (p.Ala241Ser)
|
rs587781333
|
|
NM_002485.5(NBN):c.721_722insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATTGAGTTCCG (p.Ala241delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaLysLysLysLysLysLysLysArgAsnTer)
|
|
|
NM_002485.5(NBN):c.722C>T (p.Ala241Val)
|
|
|
NM_002485.5(NBN):c.723A>C (p.Ala241=)
|
rs1554564031
|
|
NM_002485.5(NBN):c.724G>A (p.Val242Ile)
|
rs1434146100
|
|
NM_002485.5(NBN):c.727G>C (p.Val243Leu)
|
rs786203253
|
|
NM_002485.5(NBN):c.729C>G (p.Val243=)
|
|
|
NM_002485.5(NBN):c.729C>T (p.Val243=)
|
|
|
NM_002485.5(NBN):c.731T>C (p.Phe244Ser)
|
rs1586087079
|
|
NM_002485.5(NBN):c.736G>T (p.Gly246Cys)
|
|
|
NM_002485.5(NBN):c.737G>A (p.Gly246Asp)
|
rs1554564023
|
|
NM_002485.5(NBN):c.737G>T (p.Gly246Val)
|
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
NM_002485.5(NBN):c.738T>C (p.Gly246=)
|
rs2129830935
|
|
NM_002485.5(NBN):c.73G>T (p.Val25Phe)
|
rs587781748
|
|
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.742G>T (p.Glu248Ter)
|
rs1811464271
|
|
NM_002485.5(NBN):c.742dup (p.Glu248fs)
|
|
|
NM_002485.5(NBN):c.744A>G (p.Glu248=)
|
rs1554564012
|
|
NM_002485.5(NBN):c.747T>A (p.Ala249=)
|
rs780134747
|
|
NM_002485.5(NBN):c.74TTG[1] (p.Val26del)
|
rs2129925669
|
|
NM_002485.5(NBN):c.750G>A (p.Arg250=)
|
rs758852942
|
|
NM_002485.5(NBN):c.751T>C (p.Leu251=)
|
rs1811463703
|
|
NM_002485.5(NBN):c.752T>C (p.Leu251Ser)
|
rs2129830556
|
|
NM_002485.5(NBN):c.753G>C (p.Leu251Phe)
|
rs2129830525
|
|
NM_002485.5(NBN):c.754A>G (p.Ile252Val)
|
rs587782746
|
|
NM_002485.5(NBN):c.757A>G (p.Thr253Ala)
|
rs765602971
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
NM_002485.5(NBN):c.75dup (p.Val26fs)
|
rs1199711768
|
|
NM_002485.5(NBN):c.762A>G (p.Glu254=)
|
|
|
NM_002485.5(NBN):c.764A>G (p.Glu255Gly)
|
|
|
NM_002485.5(NBN):c.765G>A (p.Glu255=)
|
|
|
NM_002485.5(NBN):c.765G>C (p.Glu255Asp)
|
rs2129830286
|
|
NM_002485.5(NBN):c.765_801del (p.Asn256fs)
|
rs2129829309
|
|
NM_002485.5(NBN):c.767A>G (p.Asn256Ser)
|
rs1554563994
|
|
NM_002485.5(NBN):c.769G>A (p.Glu257Lys)
|
rs878854516
|
|
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)
|
|
|
NM_002485.5(NBN):c.769GAA[2] (p.Glu259del)
|
rs2129830023
|
|
NM_002485.5(NBN):c.76G>A (p.Val26Ile)
|
rs752964949
|
|
NM_002485.5(NBN):c.76G>T (p.Val26Phe)
|
rs752964949
|
|
NM_002485.5(NBN):c.770A>T (p.Glu257Val)
|
rs2129830212
|
|
NM_002485.5(NBN):c.772G>A (p.Glu258Lys)
|
rs922057169
|
|
NM_002485.5(NBN):c.774A>G (p.Glu258=)
|
rs1586086940
|
|
NM_002485.5(NBN):c.775G>C (p.Glu259Gln)
|
rs201559159
|
|
NM_002485.5(NBN):c.778C>T (p.His260Tyr)
|
rs767013459
|
|
NM_002485.5(NBN):c.779A>C (p.His260Pro)
|
rs1328090653
|
|
NM_002485.5(NBN):c.77T>C (p.Val26Ala)
|
rs781536675
|
|
NM_002485.5(NBN):c.781A>G (p.Asn261Asp)
|
|
|
NM_002485.5(NBN):c.782A>T (p.Asn261Ile)
|
rs1811461476
|
|
NM_002485.5(NBN):c.783T>C (p.Asn261=)
|
rs375336614
|
|
NM_002485.5(NBN):c.785_786delinsAA (p.Phe262Ter)
|
rs2129829803
|
|
NM_002485.5(NBN):c.786C>G (p.Phe262Leu)
|
rs372159380
|
|
NM_002485.5(NBN):c.787T>A (p.Phe263Ile)
|
rs1554563966
|
|
NM_002485.5(NBN):c.78dup (p.Gly27fs)
|
|
|
NM_002485.5(NBN):c.790T>C (p.Leu264=)
|
rs2129829667
|
|
NM_002485.5(NBN):c.794C>T (p.Ala265Val)
|
rs61612852
|
|
NM_002485.5(NBN):c.794dup (p.Pro266fs)
|
|
|
NM_002485.5(NBN):c.796C>G (p.Pro266Ala)
|
rs762956906
|
|
NM_002485.5(NBN):c.798G>T (p.Pro266=)
|
rs368786672
|
|
NM_002485.5(NBN):c.800dup (p.Thr268fs)
|
rs1554563955
|
|
NM_002485.5(NBN):c.802A>G (p.Thr268Ala)
|
rs2129829282
|
|
NM_002485.5(NBN):c.803del (p.Thr268fs)
|
|
|
NM_002485.5(NBN):c.804G>C (p.Thr268=)
|
rs141443872
|
|
NM_002485.5(NBN):c.804G>T (p.Thr268=)
|
rs141443872
|
|
NM_002485.5(NBN):c.805T>C (p.Cys269Arg)
|
|
|
NM_002485.5(NBN):c.806G>C (p.Cys269Ser)
|
rs768822147
|
|
NM_002485.5(NBN):c.806G>T (p.Cys269Phe)
|
rs768822147
|
|
NM_002485.5(NBN):c.808G>A (p.Val270Ile)
|
rs1811458935
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
NM_002485.5(NBN):c.809T>C (p.Val270Ala)
|
rs1811458659
|
|
NM_002485.5(NBN):c.80G>A (p.Gly27Glu)
|
rs755171159
|
|
NM_002485.5(NBN):c.80G>C (p.Gly27Ala)
|
|
|
NM_002485.5(NBN):c.811G>A (p.Val271Ile)
|
rs876659388
|
|
NM_002485.5(NBN):c.811G>T (p.Val271Phe)
|
rs876659388
|
|
NM_002485.5(NBN):c.812T>C (p.Val271Ala)
|
rs1811458181
|
|
NM_002485.5(NBN):c.812T>G (p.Val271Gly)
|
rs1811458181
|
|
NM_002485.5(NBN):c.813T>C (p.Val271=)
|
rs1811458034
|
|
NM_002485.5(NBN):c.815A>T (p.Asp272Val)
|
|
|
NM_002485.5(NBN):c.816T>C (p.Asp272=)
|
rs1811457608
|
|
NM_002485.5(NBN):c.817A>G (p.Thr273Ala)
|
|
|
NM_002485.5(NBN):c.817dup (p.Thr273fs)
|
rs730881839
|
|
NM_002485.5(NBN):c.818C>A (p.Thr273Lys)
|
rs1554563912
|
|
NM_002485.5(NBN):c.818C>T (p.Thr273Ile)
|
rs1554563912
|
|
NM_002485.5(NBN):c.819A>G (p.Thr273=)
|
rs147660518
|
|
NM_002485.5(NBN):c.81A>T (p.Gly27=)
|
rs2129925626
|
|
NM_002485.5(NBN):c.821G>A (p.Gly274Glu)
|
|
|
NM_002485.5(NBN):c.822A>C (p.Gly274=)
|
rs1270883453
|
|
NM_002485.5(NBN):c.822A>G (p.Gly274=)
|
rs1270883453
|
|
NM_002485.5(NBN):c.825A>G (p.Ile275Met)
|
rs2129828602
|
|
NM_002485.5(NBN):c.826A>G (p.Thr276Ala)
|
rs1554563895
|
|
NM_002485.5(NBN):c.827C>T (p.Thr276Ile)
|
|
|
NM_002485.5(NBN):c.829A>G (p.Asn277Asp)
|
rs1563559349
|
|
NM_002485.5(NBN):c.82A>G (p.Arg28Gly)
|
rs1563584545
|
|
NM_002485.5(NBN):c.830A>C (p.Asn277Thr)
|
rs876658579
|
|
NM_002485.5(NBN):c.830del (p.Asn277fs)
|
|
|
NM_002485.5(NBN):c.831C>T (p.Asn277=)
|
|
|
NM_002485.5(NBN):c.832T>C (p.Ser278Pro)
|
rs1225178489
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
NM_002485.5(NBN):c.832_835del (p.Ser278fs)
|
|
|
NM_002485.5(NBN):c.834A>T (p.Ser278=)
|
rs2129828382
|
|
NM_002485.5(NBN):c.835C>G (p.Gln279Glu)
|
rs1586086585
|
|
NM_002485.5(NBN):c.836A>C (p.Gln279Pro)
|
rs864622116
|
|
NM_002485.5(NBN):c.836A>G (p.Gln279Arg)
|
rs864622116
|
|
NM_002485.5(NBN):c.836_839del (p.Gln279fs)
|
rs864309668
|
|
NM_002485.5(NBN):c.836del (p.Gln279fs)
|
rs1554563878
|
|
NM_002485.5(NBN):c.837G>A (p.Gln279=)
|
rs896641519
|
|
NM_002485.5(NBN):c.839C>T (p.Thr280Ile)
|
rs2129828243
|
|
NM_002485.5(NBN):c.83_89del (p.Arg28fs)
|
rs1554569106
|
|
NM_002485.5(NBN):c.840C>T (p.Thr280=)
|
rs876659147
|
|
NM_002485.5(NBN):c.842dup (p.Leu281fs)
|
rs864309669
|
|
NM_002485.5(NBN):c.843A>G (p.Leu281=)
|
rs1586086525
|
|
NM_002485.5(NBN):c.847C>T (p.Pro283Ser)
|
rs1811453358
|
|
NM_002485.5(NBN):c.848C>A (p.Pro283His)
|
rs1554563853
|
|
NM_002485.5(NBN):c.848del (p.Pro283fs)
|
rs2129827996
|
|
NM_002485.5(NBN):c.851A>G (p.Asp284Gly)
|
rs772176894
|
|
NM_002485.5(NBN):c.851A>T (p.Asp284Val)
|
|
|
NM_002485.5(NBN):c.851_854del (p.Asp284fs)
|
rs2129827880
|
|
NM_002485.5(NBN):c.852C>G (p.Asp284Glu)
|
rs2129827918
|
|
NM_002485.5(NBN):c.853T>G (p.Cys285Gly)
|
rs1563559186
|
|
NM_002485.5(NBN):c.854G>C (p.Cys285Ser)
|
rs863224715
|
|
NM_002485.5(NBN):c.855T>A (p.Cys285Ter)
|
|
|
NM_002485.5(NBN):c.855T>C (p.Cys285=)
|
|
|
NM_002485.5(NBN):c.857A>G (p.Gln286Arg)
|
rs1586086458
|
|
NM_002485.5(NBN):c.857dup (p.Lys287fs)
|
|
|
NM_002485.5(NBN):c.862A>G (p.Lys288Glu)
|
|
|
NM_002485.5(NBN):c.864A>G (p.Lys288=)
|
rs1554563842
|
|
NM_002485.5(NBN):c.864del (p.Lys288fs)
|
|
|
NM_002485.5(NBN):c.865T>A (p.Trp289Arg)
|
rs1563559145
|
|
NM_002485.5(NBN):c.866G>T (p.Trp289Leu)
|
rs876660117
|
|
NM_002485.5(NBN):c.867G>T (p.Trp289Cys)
|
rs1060503475
|
|
NM_002485.5(NBN):c.868A>G (p.Ile290Val)
|
|
|
NM_002485.5(NBN):c.86A>G (p.Lys29Arg)
|
rs1554569112
|
|
NM_002485.5(NBN):c.871C>T (p.Gln291Ter)
|
rs1554563822
|
|
NM_002485.5(NBN):c.872A>G (p.Gln291Arg)
|
rs587778547
|
|
NM_002485.5(NBN):c.872dup (p.Ser292fs)
|
rs1563559078
|
|
NM_002485.5(NBN):c.873G>A (p.Gln291=)
|
rs786202939
|
|
NM_002485.5(NBN):c.873G>C (p.Gln291His)
|
rs786202939
|
|
NM_002485.5(NBN):c.874T>C (p.Ser292Pro)
|
rs876660700
|
|
NM_002485.5(NBN):c.875C>G (p.Ser292Ter)
|
|
|
NM_002485.5(NBN):c.875C>T (p.Ser292Leu)
|
rs1811450946
|
|
NM_002485.5(NBN):c.876A>C (p.Ser292=)
|
rs2129827371
|
|
NM_002485.5(NBN):c.876A>G (p.Ser292=)
|
|
|
NM_002485.5(NBN):c.877del (p.Ser292_Ile293insTer)
|
rs1811450828
|
|
NM_002485.5(NBN):c.879A>G (p.Ile293Met)
|
rs1811450612
|
|
NM_002485.5(NBN):c.880A>T (p.Met294Leu)
|
rs746381477
|
|
NM_002485.5(NBN):c.882G>C (p.Met294Ile)
|
rs1811450172
|
|
NM_002485.5(NBN):c.884A>C (p.Asp295Ala)
|
rs1208423434
|
|
NM_002485.5(NBN):c.884A>G (p.Asp295Gly)
|
rs1208423434
|
|
NM_002485.5(NBN):c.884A>T (p.Asp295Val)
|
rs1208423434
|
|
NM_002485.5(NBN):c.885T>C (p.Asp295=)
|
rs2129827145
|
|
NM_002485.5(NBN):c.889C>T (p.Leu297Phe)
|
|
|
NM_002485.5(NBN):c.88_89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.890T>C (p.Leu297Pro)
|
rs757787958
|
|
NM_002485.5(NBN):c.891C>T (p.Leu297=)
|
rs1554563793
|
|
NM_002485.5(NBN):c.894A>G (p.Gln298=)
|
|
|
NM_002485.5(NBN):c.895A>C (p.Arg299=)
|
rs1554563784
|
|
NM_002485.5(NBN):c.896+10dup
|
rs763938484
|
|
NM_002485.5(NBN):c.896+12T>C
|
|
|
NM_002485.5(NBN):c.896+13T>C
|
rs376695206
|
|
NM_002485.5(NBN):c.896+17del
|
|
|
NM_002485.5(NBN):c.896+18A>G
|
|
|
NM_002485.5(NBN):c.896+19T>C
|
|
|
NM_002485.5(NBN):c.896+1G>A
|
rs778306619
|
|
NM_002485.5(NBN):c.896+1G>T
|
rs778306619
|
|
NM_002485.5(NBN):c.896+2T>C
|
rs754659423
|
|
NM_002485.5(NBN):c.896+3A>G
|
rs1158019133
|
|
NM_002485.5(NBN):c.896+3A>T
|
rs1158019133
|
|
NM_002485.5(NBN):c.896+4T>A
|
rs190843577
|
|
NM_002485.5(NBN):c.896+6G>A
|
rs1811448021
|
|
NM_002485.5(NBN):c.896+6G>T
|
rs1811448021
|
|
NM_002485.5(NBN):c.896+7A>G
|
rs1060504926
|
|
NM_002485.5(NBN):c.896+7_896+12dup
|
|
|
NM_002485.5(NBN):c.896+8A>G
|
rs2129826754
|
|
NM_002485.5(NBN):c.897-10A>G
|
rs1563549139
|
|
NM_002485.5(NBN):c.897-10A>T
|
|
|
NM_002485.5(NBN):c.897-11_897-6del
|
rs1586076334
|
|
NM_002485.5(NBN):c.897-12T>C
|
|
|
NM_002485.5(NBN):c.897-14T>C
|
rs2129787557
|
|
NM_002485.5(NBN):c.897-16T>C
|
|
|
NM_002485.5(NBN):c.897-17C>A
|
|
|
NM_002485.5(NBN):c.897-17C>T
|
|
|
NM_002485.5(NBN):c.897-18dup
|
rs957902993
|
|
NM_002485.5(NBN):c.897-19_897-15del
|
|
|
NM_002485.5(NBN):c.897-1G>A
|
rs1586076299
|
|
NM_002485.5(NBN):c.897-23_897-20del
|
rs2129787608
|
|
NM_002485.5(NBN):c.897-2A>G
|
rs864622090
|
|
NM_002485.5(NBN):c.897-3T>C
|
rs2129787405
|
|
NM_002485.5(NBN):c.897-5A>C
|
|
|
NM_002485.5(NBN):c.897-5A>G
|
rs1586076321
|
|
NM_002485.5(NBN):c.897-7del
|
rs2129787510
|
|
NM_002485.5(NBN):c.897-8T>C
|
rs2129787526
|
|
NM_002485.5(NBN):c.899A>G (p.Gln300Arg)
|
rs758070132
|
|
NM_002485.5(NBN):c.89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.900A>G (p.Gln300=)
|
rs1811152792
|
|
NM_002485.5(NBN):c.900A>T (p.Gln300His)
|
rs1811152792
|
|
NM_002485.5(NBN):c.900_924del (p.Gly301fs)
|
rs1057519587
|
|
NM_002485.5(NBN):c.901G>A (p.Gly301Ser)
|
rs1280333137
|
|
NM_002485.5(NBN):c.901G>C (p.Gly301Arg)
|
rs1280333137
|
|
NM_002485.5(NBN):c.902G>T (p.Gly301Val)
|
rs749857140
|
|
NM_002485.5(NBN):c.904C>G (p.Leu302Val)
|
rs2129787198
|
|
NM_002485.5(NBN):c.906T>C (p.Leu302=)
|
rs2129787176
|
|
NM_002485.5(NBN):c.908G>C (p.Arg303Thr)
|
|
|
NM_002485.5(NBN):c.910C>A (p.Pro304Thr)
|
rs2129787141
|
|
NM_002485.5(NBN):c.911C>G (p.Pro304Arg)
|
rs536965870
|
|
NM_002485.5(NBN):c.911del (p.Pro304fs)
|
rs1563549036
|
|
NM_002485.5(NBN):c.913A>C (p.Ile305Leu)
|
rs1554562189
|
|
NM_002485.5(NBN):c.914T>C (p.Ile305Thr)
|
rs1586076225
|
|
NM_002485.5(NBN):c.916C>T (p.Pro306Ser)
|
rs1811151665
|
|
NM_002485.5(NBN):c.917C>T (p.Pro306Leu)
|
rs1563548981
|
|
NM_002485.5(NBN):c.917del (p.Pro306fs)
|
rs1554562185
|
|
NM_002485.5(NBN):c.919G>A (p.Glu307Lys)
|
rs1554562182
|
|
NM_002485.5(NBN):c.919G>C (p.Glu307Gln)
|
rs1554562182
|
|
NM_002485.5(NBN):c.91T>C (p.Cys31Arg)
|
rs876658553
|
|
NM_002485.5(NBN):c.920A>C (p.Glu307Ala)
|
|
|
NM_002485.5(NBN):c.920A>T (p.Glu307Val)
|
rs2129786912
|
|
NM_002485.5(NBN):c.921A>G (p.Glu307=)
|
rs1554562180
|
|
NM_002485.5(NBN):c.923C>G (p.Ala308Gly)
|
rs1554562176
|
|
NM_002485.5(NBN):c.923C>T (p.Ala308Val)
|
rs1554562176
|
|
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.927A>G (p.Glu309=)
|
|
|
NM_002485.5(NBN):c.927A>T (p.Glu309Asp)
|
rs1811150445
|
|
NM_002485.5(NBN):c.92G>A (p.Cys31Tyr)
|
rs1377520302
|
|
NM_002485.5(NBN):c.92G>T (p.Cys31Phe)
|
|
|
NM_002485.5(NBN):c.930T>C (p.Ile310=)
|
rs142813526
|
|
NM_002485.5(NBN):c.932G>A (p.Gly311Glu)
|
rs1563548856
|
|
NM_002485.5(NBN):c.932G>T (p.Gly311Val)
|
rs1563548856
|
|
NM_002485.5(NBN):c.933A>T (p.Gly311=)
|
rs2129786626
|
|
NM_002485.5(NBN):c.934T>C (p.Leu312=)
|
rs1811149387
|
|
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)
|
rs371480039
|
|
NM_002485.5(NBN):c.936G>C (p.Leu312Phe)
|
rs148517156
|
|
NM_002485.5(NBN):c.937G>A (p.Ala313Thr)
|
|
|
NM_002485.5(NBN):c.938C>A (p.Ala313Glu)
|
|
|
NM_002485.5(NBN):c.939G>T (p.Ala313=)
|
rs145750430
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002485.5(NBN):c.93_96dup (p.Ile33fs)
|
rs2129925355
|
|
NM_002485.5(NBN):c.941T>A (p.Val314Glu)
|
rs771086262
|
|
NM_002485.5(NBN):c.942G>A (p.Val314=)
|
rs749757928
|
|
NM_002485.5(NBN):c.942G>C (p.Val314=)
|
rs749757928
|
|
NM_002485.5(NBN):c.943A>G (p.Ile315Val)
|
rs878854517
|
|
NM_002485.5(NBN):c.948C>T (p.Phe316=)
|
rs1429467104
|
|
NM_002485.5(NBN):c.949A>T (p.Met317Leu)
|
rs587782502
|
|
NM_002485.5(NBN):c.950T>A (p.Met317Lys)
|
|
|
NM_002485.5(NBN):c.950T>C (p.Met317Thr)
|
rs1586075983
|
|
NM_002485.5(NBN):c.951G>A (p.Met317Ile)
|
rs1586075972
|
|
NM_002485.5(NBN):c.952A>T (p.Thr318Ser)
|
rs1811146499
|
|
NM_002485.5(NBN):c.953C>T (p.Thr318Ile)
|
rs1811146292
|
|
NM_002485.5(NBN):c.954T>C (p.Thr318=)
|
rs1554562137
|
|
NM_002485.5(NBN):c.955A>G (p.Thr319Ala)
|
rs876659969
|
|
NM_002485.5(NBN):c.956C>T (p.Thr319Ile)
|
|
|
NM_002485.5(NBN):c.958A>G (p.Lys320Glu)
|
rs1563548624
|
|
NM_002485.5(NBN):c.960G>A (p.Lys320=)
|
rs1554562125
|
|
NM_002485.5(NBN):c.960G>T (p.Lys320Asn)
|
rs1554562125
|
|
NM_002485.5(NBN):c.962del (p.Asn321fs)
|
rs1586075907
|
|
NM_002485.5(NBN):c.962dup (p.Asn321fs)
|
|
|
NM_002485.5(NBN):c.964T>G (p.Tyr322Asp)
|
rs1554562123
|
|
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)
|
rs748453607
|
|
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)
|
rs748453607
|
|
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer)
|
rs1811144443
|
|
NM_002485.5(NBN):c.967T>C (p.Cys323Arg)
|
|
|
NM_002485.5(NBN):c.968G>A (p.Cys323Tyr)
|
rs730881848
|
|
NM_002485.5(NBN):c.969T>C (p.Cys323=)
|
rs773860553
|
|
NM_002485.5(NBN):c.973C>T (p.Pro325Ser)
|
rs2129785733
|
|
NM_002485.5(NBN):c.974C>T (p.Pro325Leu)
|
rs1586075820
|
|
NM_002485.5(NBN):c.974del (p.Pro325fs)
|
rs1554562110
|
|
NM_002485.5(NBN):c.975T>G (p.Pro325=)
|
rs2129785634
|
|
NM_002485.5(NBN):c.976C>G (p.Gln326Glu)
|
rs121908973
|
|
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
|
rs121908973
|
|
NM_002485.5(NBN):c.977A>G (p.Gln326Arg)
|
rs876659586
|
|
NM_002485.5(NBN):c.978G>A (p.Gln326=)
|
|
|
NM_002485.5(NBN):c.979_980del (p.Gly327fs)
|
|
|
NM_002485.5(NBN):c.97A>C (p.Ile33Leu)
|
|
|
NM_002485.5(NBN):c.97A>G (p.Ile33Val)
|
rs1563584435
|
|
NM_002485.5(NBN):c.980G>T (p.Gly327Val)
|
rs1586075779
|
|
NM_002485.5(NBN):c.982C>T (p.His328Tyr)
|
|
|
NM_002485.5(NBN):c.983A>G (p.His328Arg)
|
rs1554562099
|
|
NM_002485.5(NBN):c.983A>T (p.His328Leu)
|
rs1554562099
|
|
NM_002485.5(NBN):c.986C>A (p.Pro329His)
|
rs1386471248
|
|
NM_002485.5(NBN):c.987C>G (p.Pro329=)
|
|
|
NM_002485.5(NBN):c.987C>T (p.Pro329=)
|
rs1586075751
|
|
NM_002485.5(NBN):c.988A>G (p.Ser330Gly)
|
rs1554562092
|
|
NM_002485.5(NBN):c.989G>A (p.Ser330Asn)
|
rs1811142330
|
|
NM_002485.5(NBN):c.992C>G (p.Thr331Arg)
|
rs587782905
|
|
NM_002485.5(NBN):c.992C>T (p.Thr331Ile)
|
rs587782905
|
|
NM_002485.5(NBN):c.992_994+3del
|
rs1563548315
|
|
NM_002485.5(NBN):c.993A>G (p.Thr331=)
|
rs876659523
|
|
NM_002485.5(NBN):c.994+14T>C
|
|
|
NM_002485.5(NBN):c.994+16T>C
|
|
|
NM_002485.5(NBN):c.994+1G>T
|
rs1554562083
|
|
NM_002485.5(NBN):c.994+2T>C
|
rs1586075690
|
|
NM_002485.5(NBN):c.994+4A>G
|
|
|
NM_002485.5(NBN):c.994+5T>A
|
rs778254433
|
|
NM_002485.5(NBN):c.994+6T>C
|
rs1811141291
|
|
NM_002485.5(NBN):c.994+7G>T
|
rs2129785123
|
|
NM_002485.5(NBN):c.994+8A>T
|
rs2129785103
|
|
NM_002485.5(NBN):c.994G>A (p.Gly332Arg)
|
rs1437392838
|
|
NM_002485.5(NBN):c.995-13G>A
|
rs1329972460
|
|
NM_002485.5(NBN):c.995-13G>C
|
rs1329972460
|
|
NM_002485.5(NBN):c.995-14T>C
|
rs1563539369
|
|
NM_002485.5(NBN):c.995-19C>A
|
rs2129747549
|
|
NM_002485.5(NBN):c.995-19C>G
|
|
|
NM_002485.5(NBN):c.995-1G>C
|
rs1554560523
|
|
NM_002485.5(NBN):c.995-1G>T
|
rs1554560523
|
|
NM_002485.5(NBN):c.995-20T>C
|
rs1810861105
|
|
NM_002485.5(NBN):c.995-23_998inv
|
|
|
NM_002485.5(NBN):c.995-29TTCT[2]
|
|
|
NM_002485.5(NBN):c.995-2A>C
|
rs876659521
|
|
NM_002485.5(NBN):c.995-2A>G
|
rs876659521
|
|
NM_002485.5(NBN):c.995-3C>T
|
|
|
NM_002485.5(NBN):c.995-4A>G
|
rs2129747280
|
|
NM_002485.5(NBN):c.995-5T>C
|
rs2129747292
|
|
NM_002485.5(NBN):c.995-6T>A
|
rs1810859804
|
|
NM_002485.5(NBN):c.995-6T>G
|
|
|
NM_002485.5(NBN):c.995-8A>C
|
rs2129747346
|
|
NM_002485.5(NBN):c.995-9G>A
|
rs1586066252
|
|
NM_002485.5(NBN):c.995-9G>T
|
|
|
NM_002485.5(NBN):c.995G>A (p.Gly332Glu)
|
rs2129747182
|
|
NM_002485.5(NBN):c.996A>G (p.Gly332=)
|
rs2129747152
|
|
NM_002485.5(NBN):c.999A>G (p.Leu333=)
|
|
|
NM_002485.5(NBN):c.99T>A (p.Ile33=)
|
rs1172365532
|
|
NM_002485.5(NBN):c.99T>G (p.Ile33Met)
|
rs1172365532
|
|
NM_002485.5(NBN):c.9A>C (p.Lys3Asn)
|
|
|
NM_002485.5(NBN):c.9A>G (p.Lys3=)
|
|
|