ClinVar Miner

List of variants studied for Microcephaly, normal intelligence and immunodeficiency by Invitae

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ClinVar version:
Total variants: 2732
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
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.*541G>C rs2735383 0.31125
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
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.703-18G>A rs769418 0.03898
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.1124+19C>T rs13312903 0.00965
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
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.37+11A>G rs115032431 0.00540
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.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_002485.5(NBN):c.441C>T (p.Cys147=) rs137857529 0.00062
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_002485.5(NBN):c.896+4T>C rs190843577 0.00054
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_002485.5(NBN):c.939G>A (p.Ala313=) rs145750430 0.00025
NM_002485.5(NBN):c.786C>A (p.Phe262Leu) rs372159380 0.00021
NM_002485.5(NBN):c.2220T>C (p.Ala740=) rs147494981 0.00019
NM_002485.5(NBN):c.37+6G>A rs540868733 0.00019
NM_002485.5(NBN):c.804G>A (p.Thr268=) rs141443872 0.00019
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_002485.5(NBN):c.2202A>G (p.Ala734=) rs200452212 0.00016
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_002485.5(NBN):c.1020A>G (p.Pro340=) rs864622077 0.00014
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro) rs747315554 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.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.1986G>A (p.Leu662=) rs571803328 0.00009
NM_002485.5(NBN):c.426T>C (p.Asn142=) rs143070291 0.00009
NM_002485.5(NBN):c.38-19A>T rs766849651 0.00008
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) rs367760321 0.00007
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr) rs201781110 0.00007
NM_002485.5(NBN):c.227C>A (p.Thr76Asn) rs587781412 0.00007
NM_002485.5(NBN):c.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.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.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.104T>C (p.Ile35Thr) rs587780773 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.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.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_002485.5(NBN):c.-2C>A rs202104448
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.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+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>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.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.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.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.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.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>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.1525T>A (p.Ser509Thr)
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.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.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.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.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.172-5_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.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.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>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.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.178_180del (p.Thr60del)
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.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.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.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.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.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.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.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.2048A>G (p.Lys683Arg) rs2130763713
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.2071-12A>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.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_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.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.2235-5T>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>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.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>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.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.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.307G>A (p.Gly103Arg) rs2129914127
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.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+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.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.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.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.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.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.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.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.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.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>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+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.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.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.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.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.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.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.960G>A (p.Lys320=) rs1554562125
NM_002485.5(NBN):c.960G>T (p.Lys320Asn) rs1554562125
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=)

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