ClinVar Miner

List of variants in gene NBN studied for Hereditary cancer-predisposing syndrome

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Gene type:
ClinVar version:
Total variants: 1655
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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.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
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.703-108T>C rs77265692 0.00679
NM_002485.5(NBN):c.1398-203G>A rs139084367 0.00586
NM_002485.5(NBN):c.702+84G>C rs104895036 0.00405
NM_002485.5(NBN):c.2234+604C>T rs183379987 0.00299
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.2185-2624A>G rs543830385 0.00155
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002485.5(NBN):c.584+3101G>A rs192989840 0.00120
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_002485.5(NBN):c.441C>T (p.Cys147=) rs137857529 0.00062
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_002485.5(NBN):c.896+4T>C rs190843577 0.00054
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_002485.5(NBN):c.1914+744A>C rs748941907 0.00032
NM_002485.5(NBN):c.584+3089G>T rs184109078 0.00032
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_002485.5(NBN):c.2185-1935A>G rs558544629 0.00029
NM_002485.5(NBN):c.994+2191G>A rs192117512 0.00029
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.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.585-43C>T rs374846411 0.00013
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.279G>A (p.Ser93=) rs587780781 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_002485.5(NBN):c.1915-24C>T rs201654255 0.00009
NM_002485.5(NBN):c.1986G>A (p.Leu662=) rs571803328 0.00009
NM_002485.5(NBN):c.426T>C (p.Asn142=) rs143070291 0.00009
NM_002485.5(NBN):c.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.1198G>A (p.Ala400Thr) rs551602980 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002485.5(NBN):c.1306T>C (p.Leu436=) rs375885975 0.00006
NM_002485.5(NBN):c.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.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.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.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.481-4G>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.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.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.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu) rs767523514 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.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.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.-36G>A rs762098812 0.00002
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.1845+3A>G rs587780777 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.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.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.775G>A (p.Glu259Lys) rs201559159 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.995-472A>G rs189181666 0.00002
NM_002485.5(NBN):c.-4A>G rs1234783086 0.00001
NM_002485.5(NBN):c.1009A>G (p.Thr337Ala) rs1554560492 0.00001
NM_002485.5(NBN):c.1010C>T (p.Thr337Ile) rs1335655343 0.00001
NM_002485.5(NBN):c.1012C>A (p.Pro338Thr) rs1554560467 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.1034G>T (p.Gly345Val) rs587780089 0.00001
NM_002485.5(NBN):c.1056A>G (p.Leu352=) rs369092711 0.00001
NM_002485.5(NBN):c.1063A>G (p.Ser355Gly) rs762376159 0.00001
NM_002485.5(NBN):c.1065C>T (p.Ser355=) rs876659205 0.00001
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr) rs777259845 0.00001
NM_002485.5(NBN):c.1076A>G (p.Asn359Ser) rs768886664 0.00001
NM_002485.5(NBN):c.1078A>G (p.Thr360Ala) rs1307700838 0.00001
NM_002485.5(NBN):c.1086A>G (p.Thr362=) rs876659734 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.1124G>A (p.Trp375Ter) rs1394437421 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.1351C>G (p.Gln451Glu) rs1011573169 0.00001
NM_002485.5(NBN):c.1359C>A (p.Asn453Lys) rs1412358437 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.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.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.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.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.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+125T>C rs869312607 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.172-3C>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.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.1765G>A (p.Val589Ile) rs1554558251 0.00001
NM_002485.5(NBN):c.1770A>T (p.Arg590Ser) rs1586053003 0.00001
NM_002485.5(NBN):c.1781G>C (p.Arg594Thr) rs1170559670 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.1915-627A>G rs869312605 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.2007C>T (p.Ser669=) rs200399787 0.00001
NM_002485.5(NBN):c.2012A>G (p.Asn671Ser) rs1563513183 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+2del rs1057517075 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.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.2185-12T>G rs373516568 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+2T>G rs142301194 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+6A>G rs757321173 0.00001
NM_002485.5(NBN):c.321-3C>T rs751356470 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.366C>T (p.Val122=) rs748684665 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.38-5C>T rs775244752 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+248G>A rs869312610 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.483A>G (p.Thr161=) rs758276775 0.00001
NM_002485.5(NBN):c.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.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.525A>G (p.Glu175=) rs769400631 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+3A>G rs587782407 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.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.783T>G (p.Asn261Lys) rs375336614 0.00001
NM_002485.5(NBN):c.793G>A (p.Ala265Thr) rs876658382 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.897G>A (p.Arg299=) rs779798363 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.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+5T>C rs778254433 0.00001
NM_002485.4:c.113_114insALU
NM_002485.4:c.703-20insA
NM_002485.5(NBN):c.*2T>G rs762074357
NM_002485.5(NBN):c.-1G>A
NM_002485.5(NBN):c.-2C>A rs202104448
NM_002485.5(NBN):c.-3C>G rs1276313619
NM_002485.5(NBN):c.-3C>T rs1276313619
NM_002485.5(NBN):c.-5G>A
NM_002485.5(NBN):c.1001A>T (p.Lys334Met)
NM_002485.5(NBN):c.1002G>A (p.Lys334=) rs1554560517
NM_002485.5(NBN):c.1002G>T (p.Lys334Asn)
NM_002485.5(NBN):c.1004C>G (p.Thr335Arg)
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>T (p.Thr336=) rs786201619
NM_002485.5(NBN):c.1008_1009delinsTC (p.Thr337Pro)
NM_002485.5(NBN):c.1009A>C (p.Thr337Pro)
NM_002485.5(NBN):c.100C>A (p.Leu34Met) rs1586111855
NM_002485.5(NBN):c.1012C>T (p.Pro338Ser) rs1554560467
NM_002485.5(NBN):c.1013C>G (p.Pro338Arg)
NM_002485.5(NBN):c.1016G>A (p.Gly339Glu)
NM_002485.5(NBN):c.1017A>G (p.Gly339=)
NM_002485.5(NBN):c.1018C>A (p.Pro340Thr) 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>G (p.Leu342Val)
NM_002485.5(NBN):c.1024C>T (p.Leu342Phe) rs587782656
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter) rs1810856747
NM_002485.5(NBN):c.102_104delinsAAC (p.Ile35Thr) rs1554569095
NM_002485.5(NBN):c.1032A>G (p.Gln344=) rs1159161073
NM_002485.5(NBN):c.1035C>A (p.Gly345=) rs146605798
NM_002485.5(NBN):c.1036G>C (p.Val346Leu) rs200297914
NM_002485.5(NBN):c.1036G>T (p.Val346Leu)
NM_002485.5(NBN):c.1040C>G (p.Ser347Ter) rs876660290
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.1043T>C (p.Val348Ala) rs876660929
NM_002485.5(NBN):c.1044TGA[1] (p.Asp349del) rs876660721
NM_002485.5(NBN):c.1046A>T (p.Asp349Val) rs876659431
NM_002485.5(NBN):c.1048G>T (p.Glu350Ter) rs1586065938
NM_002485.5(NBN):c.1050A>G (p.Glu350=)
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>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.1061C>A (p.Pro354Gln) rs1354459986
NM_002485.5(NBN):c.1061C>G (p.Pro354Arg)
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu) rs1354459986
NM_002485.5(NBN):c.1063A>T (p.Ser355Cys) rs762376159
NM_002485.5(NBN):c.1066G>C (p.Ala356Pro)
NM_002485.5(NBN):c.1068C>G (p.Ala356=) rs1586065793
NM_002485.5(NBN):c.1072G>A (p.Val358Met)
NM_002485.5(NBN):c.1073T>G (p.Val358Gly) rs1563538793
NM_002485.5(NBN):c.1075A>T (p.Asn359Tyr) rs1810851931
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.1080_1082del (p.Thr362del) rs587782745
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala) rs1563538728
NM_002485.5(NBN):c.1082C>A (p.Thr361Lys)
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1089del (p.Thr362_Tyr363insTer)
NM_002485.5(NBN):c.1095T>C (p.Ala365=) rs1554560368
NM_002485.5(NBN):c.1096G>A (p.Asp366Asn) rs1554560367
NM_002485.5(NBN):c.109A>G (p.Asn37Asp) rs876658411
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.1104A>G (p.Glu368=)
NM_002485.5(NBN):c.1107A>G (p.Ser369=) rs1586065630
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.1114G>T (p.Ala372Ser)
NM_002485.5(NBN):c.1115C>G (p.Ala372Gly) rs587781438
NM_002485.5(NBN):c.1116A>G (p.Ala372=) rs1810848142
NM_002485.5(NBN):c.1117G>C (p.Asp373His)
NM_002485.5(NBN):c.1120A>C (p.Thr374Pro)
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+1G>C rs1057517209
NM_002485.5(NBN):c.1124+4A>T
NM_002485.5(NBN):c.1124+5A>T rs587782108
NM_002485.5(NBN):c.1125-4A>G rs1554559375
NM_002485.5(NBN):c.1129T>C (p.Leu377=)
NM_002485.5(NBN):c.1131G>C (p.Leu377Phe)
NM_002485.5(NBN):c.1133G>C (p.Ser378Thr) rs864622123
NM_002485.5(NBN):c.1134T>G (p.Ser378Arg)
NM_002485.5(NBN):c.1135G>A (p.Glu379Lys) rs1586059630
NM_002485.5(NBN):c.1136A>G (p.Glu379Gly) rs1563532732
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1143A>G (p.Pro381=) rs1554559361
NM_002485.5(NBN):c.1146del (p.Glu383fs) rs1586059584
NM_002485.5(NBN):c.1147G>C (p.Glu383Gln) rs772909239
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs) rs748513310
NM_002485.5(NBN):c.1155dup (p.Val386fs) rs748513310
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.1160C>G (p.Ser387Cys) rs747632184
NM_002485.5(NBN):c.1161C>T (p.Ser387=) rs1042756575
NM_002485.5(NBN):c.1162A>T (p.Lys388Ter)
NM_002485.5(NBN):c.1168G>C (p.Glu390Gln)
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>T (p.Lys392Asn)
NM_002485.5(NBN):c.1180A>G (p.Arg394Gly) rs1060503470
NM_002485.5(NBN):c.1182A>G (p.Arg394=) rs1586059412
NM_002485.5(NBN):c.1186C>A (p.Leu396Ile)
NM_002485.5(NBN):c.1188T>C (p.Leu396=) rs1554559312
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.1194A>C (p.Gln398His) rs200046373
NM_002485.5(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.5(NBN):c.1195_1197delinsAAC (p.Asp399Asn) rs1586059342
NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr)
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.1202C>A (p.Pro401His) rs104895033
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.5(NBN):c.1202C>T (p.Pro401Leu) rs104895033
NM_002485.5(NBN):c.1203C>G (p.Pro401=) rs876660274
NM_002485.5(NBN):c.1208T>C (p.Val403Ala) rs1554559273
NM_002485.5(NBN):c.1208T>G (p.Val403Gly)
NM_002485.5(NBN):c.1209A>G (p.Val403=)
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.1211A>G (p.Lys404Arg)
NM_002485.5(NBN):c.1213G>A (p.Glu405Lys) rs1810666621
NM_002485.5(NBN):c.1214A>G (p.Glu405Gly)
NM_002485.5(NBN):c.1217C>A (p.Ser406Tyr) rs1810666233
NM_002485.5(NBN):c.1217C>T (p.Ser406Phe)
NM_002485.5(NBN):c.1218C>G (p.Ser406=) rs1554559261
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.1220G>A (p.Cys407Tyr) rs1473253247
NM_002485.5(NBN):c.1225dup (p.Thr409fs)
NM_002485.5(NBN):c.1226C>G (p.Thr409Arg)
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>G (p.Ile41Ser) rs1554569074
NM_002485.5(NBN):c.1230C>G (p.Ser410Arg) rs878854504
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.5(NBN):c.1232C>T (p.Ser411Phe)
NM_002485.5(NBN):c.1233T>A (p.Ser411=) rs1586059083
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.1237A>G (p.Asn413Asp) rs1810664293
NM_002485.5(NBN):c.123C>A (p.Ile41=) 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.1245_1248dup (p.Val417fs)
NM_002485.5(NBN):c.1246A>G (p.Met416Val) rs1554559222
NM_002485.5(NBN):c.1248G>A (p.Met416Ile) rs756572268
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.1253C>A (p.Ser418Ter) rs1554559212
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.1259del (p.Thr420fs) rs1586058892
NM_002485.5(NBN):c.1260T>A (p.Thr420=) rs1554559199
NM_002485.5(NBN):c.1260T>G (p.Thr420=)
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.1270A>G (p.Met424Val)
NM_002485.5(NBN):c.1273A>T (p.Arg425Ter)
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys) 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.1279C>T (p.Pro427Ser)
NM_002485.5(NBN):c.127C>G (p.Arg43Gly)
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>G (p.Tyr429Cys) rs370121348
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
NM_002485.5(NBN):c.1288C>A (p.Gln430Lys)
NM_002485.5(NBN):c.1288C>T (p.Gln430Ter)
NM_002485.5(NBN):c.1290G>C (p.Gln430His) rs1554559149
NM_002485.5(NBN):c.1291C>G (p.Leu431Val) rs1586058701
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>A (p.Pro433Gln)
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.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.1302T>A (p.Thr434=)
NM_002485.5(NBN):c.1310C>G (p.Pro437Arg)
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.1318A>G (p.Asn440Asp)
NM_002485.5(NBN):c.1319A>G (p.Asn440Ser)
NM_002485.5(NBN):c.131A>G (p.Asn44Ser)
NM_002485.5(NBN):c.1320T>C (p.Asn440=)
NM_002485.5(NBN):c.1322A>C (p.Lys441Thr) rs1329281031
NM_002485.5(NBN):c.1324A>G (p.Ser442Gly) rs1554559097
NM_002485.5(NBN):c.1328A>G (p.Lys443Arg) rs1554559092
NM_002485.5(NBN):c.1331A>C (p.Asp444Ala) rs1237800234
NM_002485.5(NBN):c.1332dup (p.Arg445Ter) rs1586058444
NM_002485.5(NBN):c.1333A>T (p.Arg445Trp)
NM_002485.5(NBN):c.1335G>A (p.Arg445=) rs1554559085
NM_002485.5(NBN):c.1335G>T (p.Arg445Ser) rs1554559085
NM_002485.5(NBN):c.1336del (p.Ala446fs) rs1554559083
NM_002485.5(NBN):c.1338T>C (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.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.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.1363A>G (p.Ile455Val) rs1554559041
NM_002485.5(NBN):c.1363A>T (p.Ile455Phe) rs1554559041
NM_002485.5(NBN):c.1365C>A (p.Ile455=)
NM_002485.5(NBN):c.1366A>G (p.Arg456Gly) rs1586058203
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.1370A>G (p.Asn457Ser) rs876659312
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.1378C>A (p.Gln460Lys)
NM_002485.5(NBN):c.1378C>G (p.Gln460Glu)
NM_002485.5(NBN):c.1385C>T (p.Ser462Phe) rs1563530730
NM_002485.5(NBN):c.1387A>G (p.Thr463Ala) rs745821964
NM_002485.5(NBN):c.1387dup (p.Thr463fs)
NM_002485.5(NBN):c.1388C>T (p.Thr463Ile) rs2129716704
NM_002485.5(NBN):c.1393A>G (p.Lys465Glu)
NM_002485.5(NBN):c.1394A>T (p.Lys465Ile)
NM_002485.5(NBN):c.1395A>G (p.Lys465=) rs1213870507
NM_002485.5(NBN):c.1396del (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1_1397+9del rs2129716262
NM_002485.5(NBN):c.1397+1_1397+9delinsACA rs876659666
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.1397+4T>C rs770699381
NM_002485.5(NBN):c.1398-10dup rs587780555
NM_002485.5(NBN):c.1398G>T (p.Arg466Ser)
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.5(NBN):c.139G>T (p.Val47Leu) rs876658446
NM_002485.5(NBN):c.13C>G (p.Leu5Val) rs1563588747
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.1405G>A (p.Asp469Asn) rs148205441
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.1417C>A (p.Gln473Lys) rs755805461
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu) rs755805461
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.1424T>C (p.Met475Thr)
NM_002485.5(NBN):c.1424del (p.Met475fs)
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.1425G>T (p.Met475Ile)
NM_002485.5(NBN):c.1427C>A (p.Ser476Tyr)
NM_002485.5(NBN):c.1428T>A (p.Ser476=)
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.1433G>A (p.Cys478Tyr)
NM_002485.5(NBN):c.1436A>G (p.Lys479Arg) rs786202028
NM_002485.5(NBN):c.1441G>A (p.Ala481Thr)
NM_002485.5(NBN):c.1441G>C (p.Ala481Pro) rs2129703568
NM_002485.5(NBN):c.1443A>C (p.Ala481=)
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.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.1450G>A (p.Glu484Lys)
NM_002485.5(NBN):c.1452A>G (p.Glu484=)
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>C (p.Thr485=)
NM_002485.5(NBN):c.1455G>T (p.Thr485=)
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro) rs587781380
NM_002485.5(NBN):c.1457C>G (p.Ser486Cys) rs572568222
NM_002485.5(NBN):c.1458T>A (p.Ser486=) rs1554558524
NM_002485.5(NBN):c.1460G>A (p.Cys487Tyr) rs587782118
NM_002485.5(NBN):c.1463C>G (p.Ser488Cys) rs1060503472
NM_002485.5(NBN):c.1465C>A (p.Leu489Ile)
NM_002485.5(NBN):c.1469T>C (p.Leu490Ser) rs1586054565
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.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.147T>C (p.Thr49=)
NM_002485.5(NBN):c.1480_1481del (p.Gln494fs) rs1586054483
NM_002485.5(NBN):c.1482A>G (p.Gln494=)
NM_002485.5(NBN):c.1483C>A (p.Pro495Thr)
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.1488T>C (p.Ala496=) rs2129702580
NM_002485.5(NBN):c.1491A>C (p.Thr497=)
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>T (p.Pro498Leu) rs1586054351
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro) rs1554558483
NM_002485.5(NBN):c.1495_1496delinsAT (p.Ser499Ile)
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>G (p.Leu5Arg)
NM_002485.5(NBN):c.1500G>A (p.Leu500=) rs1586054284
NM_002485.5(NBN):c.1501T>A (p.Trp501Arg) rs1586054279
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.5(NBN):c.1509T>C (p.Asn503=) rs876660751
NM_002485.5(NBN):c.1509T>G (p.Asn503Lys) rs876660751
NM_002485.5(NBN):c.1511A>G (p.Lys504Arg) rs757754183
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>G (p.Gln506Glu) rs876658535
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter) rs876658535
NM_002485.5(NBN):c.1518G>A (p.Gln506=)
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.1523T>A (p.Leu508Gln)
NM_002485.5(NBN):c.1524A>G (p.Leu508=) rs1266314359
NM_002485.5(NBN):c.1525T>C (p.Ser509Pro) rs1810552588
NM_002485.5(NBN):c.1526C>A (p.Ser509Tyr) rs1554558450
NM_002485.5(NBN):c.1528G>T (p.Glu510Ter)
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp) rs1283330641
NM_002485.5(NBN):c.1531_1536del (p.Asn511_Glu512del)
NM_002485.5(NBN):c.1532A>C (p.Asn511Thr) rs2129701658
NM_002485.5(NBN):c.1533T>C (p.Asn511=)
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.1546A>G (p.Thr516Ala) rs376653589
NM_002485.5(NBN):c.1546dup (p.Thr516fs)
NM_002485.5(NBN):c.1550dup (p.Asn517fs) rs587782344
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.1554dup (p.Asp519fs) rs1554558423
NM_002485.5(NBN):c.1557C>T (p.Asp519=)
NM_002485.5(NBN):c.1558A>G (p.Asn520Asp) rs944499155
NM_002485.5(NBN):c.1561A>T (p.Asn521Tyr)
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.1572A>C (p.Thr524=)
NM_002485.5(NBN):c.1573G>T (p.Asp525Tyr)
NM_002485.5(NBN):c.1575T>A (p.Asp525Glu) rs587782150
NM_002485.5(NBN):c.1580A>G (p.Asp527Gly) rs1554558407
NM_002485.5(NBN):c.1583del (p.Asp527_Leu528insTer) rs1554558406
NM_002485.5(NBN):c.1589C>A (p.Ser530Tyr)
NM_002485.5(NBN):c.158C>T (p.Ser53Phe) 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.1594_1595delinsCA (p.Val532Gln) rs1586053803
NM_002485.5(NBN):c.1599A>G (p.Lys533=) rs2129700342
NM_002485.5(NBN):c.1603T>G (p.Ser535Ala) rs1563526265
NM_002485.5(NBN):c.1604C>T (p.Ser535Phe) rs2129700282
NM_002485.5(NBN):c.1607C>T (p.Ala536Val)
NM_002485.5(NBN):c.1612_1696del (p.Lys538fs) rs1554558319
NM_002485.5(NBN):c.1616C>G (p.Ser539Cys) rs768431216
NM_002485.5(NBN):c.1616C>T (p.Ser539Phe)
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.1625C>T (p.Ala542Val) rs760911186
NM_002485.5(NBN):c.1629A>G (p.Glu543=) rs786201093
NM_002485.5(NBN):c.1633C>T (p.Leu545=)
NM_002485.5(NBN):c.1637G>C (p.Arg546Thr) rs1360502904
NM_002485.5(NBN):c.1638A>G (p.Arg546=)
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1640C>G (p.Ser547Ter)
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer) rs776417262
NM_002485.5(NBN):c.1642A>G (p.Asn548Asp) rs772234785
NM_002485.5(NBN):c.1644T>G (p.Asn548Lys)
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.1647A>G (p.Lys549=) rs988523294
NM_002485.5(NBN):c.1647A>T (p.Lys549Asn)
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
NM_002485.5(NBN):c.1651del (p.Arg551fs)
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.1652G>T (p.Arg551Met) rs1586053587
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.1659G>C (p.Met553Ile)
NM_002485.5(NBN):c.1666G>A (p.Val556Met) rs771567358
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.1680T>C (p.Asp560=)
NM_002485.5(NBN):c.1686A>C (p.Val562=)
NM_002485.5(NBN):c.1689_1693del (p.Glu564fs)
NM_002485.5(NBN):c.168C>G (p.Asn56Lys)
NM_002485.5(NBN):c.168C>T (p.Asn56=) rs1586111516
NM_002485.5(NBN):c.1690del (p.Glu564fs)
NM_002485.5(NBN):c.1691A>G (p.Glu564Gly) rs1554558323
NM_002485.5(NBN):c.1695_1698dup (p.Phe567fs) rs1279184426
NM_002485.5(NBN):c.1698A>G (p.Leu566=) rs1431614225
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>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.1701C>G (p.Phe567Leu) rs730881853
NM_002485.5(NBN):c.1701C>T (p.Phe567=) rs730881853
NM_002485.5(NBN):c.1707C>T (p.Asp569=) rs1057522522
NM_002485.5(NBN):c.1708A>G (p.Thr570Ala) rs730881854
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.171+2T>C
NM_002485.5(NBN):c.171+2T>G
NM_002485.5(NBN):c.171+4T>A rs587782290
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>G (p.Pro572=) rs1586053267
NM_002485.5(NBN):c.1718_1727dup (p.Asp577fs)
NM_002485.5(NBN):c.1719G>A (p.Glu573=) rs1586053258
NM_002485.5(NBN):c.171G>T (p.Leu57=) rs1554569001
NM_002485.5(NBN):c.172-1_176del
NM_002485.5(NBN):c.172-28G>T
NM_002485.5(NBN):c.172-2A>G
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.1727T>C (p.Ile576Thr) rs1255733657
NM_002485.5(NBN):c.1728T>C (p.Ile576=)
NM_002485.5(NBN):c.1729G>A (p.Asp577Asn) rs587781881
NM_002485.5(NBN):c.172A>T (p.Ser58Cys) rs1554568431
NM_002485.5(NBN):c.1730A>G (p.Asp577Gly) rs1341969209
NM_002485.5(NBN):c.1732G>A (p.Val578Met)
NM_002485.5(NBN):c.1732G>T (p.Val578Leu) rs1554558284
NM_002485.5(NBN):c.1734G>C (p.Val578=)
NM_002485.5(NBN):c.1735A>C (p.Lys579Gln) rs993110145
NM_002485.5(NBN):c.1739T>G (p.Val580Gly) rs2129697638
NM_002485.5(NBN):c.173G>A (p.Ser58Asn) rs1586109204
NM_002485.5(NBN):c.1741C>G (p.Gln581Glu) rs1337679118
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.1749GGA[1] (p.Glu585del) rs1554558265
NM_002485.5(NBN):c.1750G>C (p.Glu584Gln)
NM_002485.5(NBN):c.1752G>T (p.Glu584Asp) rs1554558267
NM_002485.5(NBN):c.1756G>C (p.Asp586His) rs786202588
NM_002485.5(NBN):c.1761C>G (p.Val587=)
NM_002485.5(NBN):c.1762A>C (p.Asn588His) rs1810527107
NM_002485.5(NBN):c.1764T>C (p.Asn588=) rs1554558253
NM_002485.5(NBN):c.1769del (p.Arg590fs) rs1563525004
NM_002485.5(NBN):c.176A>G (p.Gln59Arg)
NM_002485.5(NBN):c.176_177insTA (p.Gln59fs)
NM_002485.5(NBN):c.1771A>C (p.Lys591Gln) rs1554558249
NM_002485.5(NBN):c.1775G>T (p.Arg592Met) rs1586052969
NM_002485.5(NBN):c.1777C>A (p.Pro593Thr) rs146989944
NM_002485.5(NBN):c.177_180delinsG (p.Thr60del) rs1554568419
NM_002485.5(NBN):c.1780A>G (p.Arg594Gly) rs1554558241
NM_002485.5(NBN):c.1783A>G (p.Met595Val) rs2129696684
NM_002485.5(NBN):c.1785G>C (p.Met595Ile) rs1586052885
NM_002485.5(NBN):c.1786G>T (p.Asp596Tyr) rs1467034784
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly) rs1005715125
NM_002485.5(NBN):c.1787A>T (p.Asp596Val) rs1005715125
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs) rs1586052851
NM_002485.5(NBN):c.1789A>T (p.Ile597Leu) rs864622167
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg) rs775848374
NM_002485.5(NBN):c.1798A>G (p.Asn600Asp)
NM_002485.5(NBN):c.1799A>G (p.Asn600Ser)
NM_002485.5(NBN):c.179C>A (p.Thr60Lys) rs1586109164
NM_002485.5(NBN):c.179C>G (p.Thr60Arg)
NM_002485.5(NBN):c.17C>T (p.Pro6Leu) rs876658432
NM_002485.5(NBN):c.1801G>C (p.Asp601His)
NM_002485.5(NBN):c.1802A>G (p.Asp601Gly) rs553571469
NM_002485.5(NBN):c.1805C>T (p.Thr602Ile) rs1563524801
NM_002485.5(NBN):c.1806T>G (p.Thr602=)
NM_002485.5(NBN):c.1808T>G (p.Phe603Cys) rs1810522468
NM_002485.5(NBN):c.1809C>G (p.Phe603Leu) rs192236678
NM_002485.5(NBN):c.1810A>G (p.Ser604Gly)
NM_002485.5(NBN):c.1812T>C (p.Ser604=) rs1586052747
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1825C>A (p.Pro609Thr) rs372012641
NM_002485.5(NBN):c.1829A>G (p.Glu610Gly)
NM_002485.5(NBN):c.182A>G (p.Asp61Gly) rs1460282206
NM_002485.5(NBN):c.1831A>G (p.Ser611Gly)
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.1838A>G (p.Lys613Arg)
NM_002485.5(NBN):c.183del (p.Asp61fs) rs587782147
NM_002485.5(NBN):c.1842A>G (p.Ile614Met) rs770345026
NM_002485.5(NBN):c.1845+1G>A rs2129695663
NM_002485.5(NBN):c.1845+1G>C
NM_002485.5(NBN):c.1845+2dup rs1586052628
NM_002485.5(NBN):c.1845T>C (p.Ser615=) rs1810519877
NM_002485.5(NBN):c.185A>T (p.Glu62Val) rs1812067152
NM_002485.5(NBN):c.188T>A (p.Ile63Asn) rs961554359
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
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.190C>T (p.Pro64Ser) rs267602038
NM_002485.5(NBN):c.1915-7_1915-5delinsGTG
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.1924A>G (p.Lys642Glu)
NM_002485.5(NBN):c.1929T>A (p.Leu643=)
NM_002485.5(NBN):c.192T>G (p.Pro64=) rs1554568378
NM_002485.5(NBN):c.1930C>A (p.Gln644Lys) rs764050423
NM_002485.5(NBN):c.1933G>A (p.Asp645Asn) rs1064796613
NM_002485.5(NBN):c.1933G>C (p.Asp645His)
NM_002485.5(NBN):c.1933G>T (p.Asp645Tyr) rs1064796613
NM_002485.5(NBN):c.1936G>A (p.Asp646Asn) rs2129649024
NM_002485.5(NBN):c.1937A>T (p.Asp646Val)
NM_002485.5(NBN):c.1939A>G (p.Ser647Gly)
NM_002485.5(NBN):c.193G>C (p.Val65Leu) rs778998026
NM_002485.5(NBN):c.1940G>T (p.Ser647Ile)
NM_002485.5(NBN):c.1940del (p.Ser647fs) rs1554556587
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg) rs1477953712
NM_002485.5(NBN):c.1945A>T (p.Met649Leu)
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.1952C>G (p.Pro651Arg) rs1554556572
NM_002485.5(NBN):c.1954A>G (p.Lys652Glu) rs780360772
NM_002485.5(NBN):c.1958_1959delinsC (p.Lys653fs)
NM_002485.5(NBN):c.1958dup (p.Leu654fs) rs780235686
NM_002485.5(NBN):c.1966T>C (p.Leu656=) rs878854508
NM_002485.5(NBN):c.196T>G (p.Leu66Val) rs1554568371
NM_002485.5(NBN):c.1971T>A (p.Thr657=) rs1586040625
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys) rs201781110
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.1984C>G (p.Leu662Val) rs1586040566
NM_002485.5(NBN):c.1985T>G (p.Leu662Arg) rs1810183362
NM_002485.5(NBN):c.1986_1999del (p.Val663fs) rs587782653
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.1992T>C (p.Ile664=) rs1810182762
NM_002485.5(NBN):c.1993A>G (p.Lys665Glu) rs1554556544
NM_002485.5(NBN):c.1994A>G (p.Lys665Arg)
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.199A>G (p.Thr67Ala) rs876660922
NM_002485.5(NBN):c.2003C>T (p.Thr668Ile) rs876658336
NM_002485.5(NBN):c.2004T>C (p.Thr668=) rs1563513242
NM_002485.5(NBN):c.2004T>G (p.Thr668=) rs1563513242
NM_002485.5(NBN):c.2008A>G (p.Arg670Gly) rs876658488
NM_002485.5(NBN):c.2009G>T (p.Arg670Ile) rs1554556522
NM_002485.5(NBN):c.200C>T (p.Thr67Ile) rs1015793589
NM_002485.5(NBN):c.2015_2016inv (p.Pro672Leu)
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>G (p.Ser673Cys) rs1810179050
NM_002485.5(NBN):c.201A>C (p.Thr67=) rs876659059
NM_002485.5(NBN):c.201A>G (p.Thr67=)
NM_002485.5(NBN):c.2020G>T (p.Gly674Cys) rs1563513091
NM_002485.5(NBN):c.2021G>T (p.Gly674Val) rs1563513080
NM_002485.5(NBN):c.2022C>G (p.Gly674=)
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>A (p.Leu68Ile)
NM_002485.5(NBN):c.2034T>C (p.Asp678=) rs769252040
NM_002485.5(NBN):c.2039G>T (p.Gly680Val) rs1425101720
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>C (p.Leu682Pro)
NM_002485.5(NBN):c.2046A>G (p.Leu682=) rs1554556481
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.2051A>G (p.Asn684Ser) rs1554556477
NM_002485.5(NBN):c.2051del (p.Asn684fs) rs1586040200
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>T (p.Lys686Ter) rs786203920
NM_002485.5(NBN):c.2067A>G (p.Lys689=)
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln) rs587780092
NM_002485.5(NBN):c.2070+1G>A rs1554556454
NM_002485.5(NBN):c.2070+2T>G rs786203223
NM_002485.5(NBN):c.2070+4G>C
NM_002485.5(NBN):c.2070+5G>C
NM_002485.5(NBN):c.2070G>A (p.Lys690=)
NM_002485.5(NBN):c.2071-1G>A rs786201965
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.2071-4A>T rs746994234
NM_002485.5(NBN):c.2071G>T (p.Val691Phe) rs772059959
NM_002485.5(NBN):c.2072T>A (p.Val691Asp)
NM_002485.5(NBN):c.2072T>G (p.Val691Gly) rs1563508748
NM_002485.5(NBN):c.2075C>T (p.Thr692Ile) rs1060503474
NM_002485.5(NBN):c.2078A>G (p.Tyr693Cys) rs1563508706
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.2084G>A (p.Gly695Glu) rs1554555834
NM_002485.5(NBN):c.2086G>T (p.Ala696Ser) rs749276965
NM_002485.5(NBN):c.2087C>G (p.Ala696Gly)
NM_002485.5(NBN):c.2087C>T (p.Ala696Val) rs1462278909
NM_002485.5(NBN):c.2088A>G (p.Ala696=)
NM_002485.5(NBN):c.208G>A (p.Asp70Asn) rs560337591
NM_002485.5(NBN):c.2092A>G (p.Lys698Glu) rs1586035456
NM_002485.5(NBN):c.2093A>G (p.Lys698Arg) rs2130756107
NM_002485.5(NBN):c.2095C>T (p.Leu699Phe)
NM_002485.5(NBN):c.2097_2098del (p.Pro700fs) rs2130756068
NM_002485.5(NBN):c.2098C>A (p.Pro700Thr) rs1060503461
NM_002485.5(NBN):c.2099dup (p.His701fs)
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.2101C>T (p.His701Tyr) rs587781567
NM_002485.5(NBN):c.2103C>T (p.His701=) rs753991062
NM_002485.5(NBN):c.2104A>G (p.Ile702Val) rs1554555821
NM_002485.5(NBN):c.2108T>C (p.Ile703Thr) rs1554555819
NM_002485.5(NBN):c.2109T>C (p.Ile703=)
NM_002485.5(NBN):c.210T>G (p.Asp70Glu) rs1554568357
NM_002485.5(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.5(NBN):c.2114G>T (p.Gly705Val)
NM_002485.5(NBN):c.2115dup (p.Ser706fs)
NM_002485.5(NBN):c.2119G>A (p.Asp707Asn)
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.2122C>T (p.Leu708=) rs756580887
NM_002485.5(NBN):c.2125A>C (p.Ile709Leu)
NM_002485.5(NBN):c.2125_2127delinsCTG (p.Ile709Leu) rs1586035313
NM_002485.5(NBN):c.2126_2127insTA (p.Ala710fs)
NM_002485.5(NBN):c.2127A>G (p.Ile709Met)
NM_002485.5(NBN):c.2128G>C (p.Ala710Pro) rs1554555808
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.2133T>C (p.His711=) rs2130755705
NM_002485.5(NBN):c.2135A>G (p.His712Arg) rs1361799559
NM_002485.5(NBN):c.2137G>A (p.Ala713Thr) rs1554555795
NM_002485.5(NBN):c.2138C>G (p.Ala713Gly) rs986903713
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.5(NBN):c.2141del (p.Arg714fs)
NM_002485.5(NBN):c.2143A>G (p.Lys715Glu)
NM_002485.5(NBN):c.2144A>G (p.Lys715Arg)
NM_002485.5(NBN):c.2148T>C (p.Asn716=) rs1586035178
NM_002485.5(NBN):c.2150C>G (p.Thr717Arg)
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)
NM_002485.5(NBN):c.2155_2157dup (p.Leu719dup) rs864622241
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.2161G>C (p.Glu721Gln) rs1064795816
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.5(NBN):c.2163G>A (p.Glu721=) rs786202747
NM_002485.5(NBN):c.2164T>G (p.Trp722Gly) rs1554555748
NM_002485.5(NBN):c.2167C>G (p.Leu723Val) rs759888769
NM_002485.5(NBN):c.2168T>C (p.Leu723Pro)
NM_002485.5(NBN):c.216T>C (p.Ser72=)
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.2172G>T (p.Arg724Ser) rs1057523944
NM_002485.5(NBN):c.2174A>C (p.Gln725Pro) rs878854510
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.2184+1G>A rs756363734
NM_002485.5(NBN):c.2184+1_2184+5del
NM_002485.5(NBN):c.2184+2T>G rs75823099
NM_002485.5(NBN):c.2184G>A (p.Glu728=) rs1586034964
NM_002485.5(NBN):c.2185-1G>A rs1057517262
NM_002485.5(NBN):c.2185-1G>T
NM_002485.5(NBN):c.2185-2623A>G rs869312606
NM_002485.5(NBN):c.2185-2del
NM_002485.5(NBN):c.2185-5G>A
NM_002485.5(NBN):c.2187A>T (p.Val729=) rs1057523526
NM_002485.5(NBN):c.218A>G (p.Lys73Arg)
NM_002485.5(NBN):c.2191A>T (p.Asn731Tyr) rs369649307
NM_002485.5(NBN):c.2191_2192del (p.Asn731fs)
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.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.2205AGA[1] (p.Glu737del) rs1554554251
NM_002485.5(NBN):c.2206G>A (p.Glu736Lys)
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.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.2210A>C (p.Glu737Ala)
NM_002485.5(NBN):c.2210A>T (p.Glu737Val) rs1554554247
NM_002485.5(NBN):c.2211G>T (p.Glu737Asp) rs753596803
NM_002485.5(NBN):c.2212_2213delinsAG (p.Ser738=)
NM_002485.5(NBN):c.2213C>T (p.Ser738Phe) rs876659097
NM_002485.5(NBN):c.2217T>C (p.Leu739=) rs760207156
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.2227_2228del (p.Leu743fs) rs876659551
NM_002485.5(NBN):c.222T>C (p.Tyr74=) rs1563581193
NM_002485.5(NBN):c.2232T>C (p.Phe744=)
NM_002485.5(NBN):c.2234+1G>T rs1586024147
NM_002485.5(NBN):c.2234+2T>C
NM_002485.5(NBN):c.2235-13T>C rs2130735823
NM_002485.5(NBN):c.2235-2A>G rs767094704
NM_002485.5(NBN):c.2235-3C>T rs1554553897
NM_002485.5(NBN):c.2235-4G>A rs1554553898
NM_002485.5(NBN):c.2236T>G (p.Tyr746Asp)
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.2238del (p.Arg745_Tyr746insTer)
NM_002485.5(NBN):c.223G>T (p.Gly75Cys)
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.2245T>A (p.Tyr749Asn) rs1199617209
NM_002485.5(NBN):c.2245T>C (p.Tyr749His)
NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe) rs864622446
NM_002485.5(NBN):c.224G>T (p.Gly75Val)
NM_002485.5(NBN):c.2250A>T (p.Leu750Phe) rs1554553868
NM_002485.5(NBN):c.2255G>C (p.Arg752Thr)
NM_002485.5(NBN):c.2256_2258del (p.Arg754del) rs1809632212
NM_002485.5(NBN):c.225T>C (p.Gly75=)
NM_002485.5(NBN):c.2261G>C (p.Arg754Thr)
NM_002485.5(NBN):c.226A>G (p.Thr76Ala) rs1586108851
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.229T>C (p.Phe77Leu)
NM_002485.5(NBN):c.22G>A (p.Ala8Thr)
NM_002485.5(NBN):c.231T>A (p.Phe77Leu) rs1554568336
NM_002485.5(NBN):c.235A>C (p.Asn79His) rs786202749
NM_002485.5(NBN):c.235A>G (p.Asn79Asp) rs786202749
NM_002485.5(NBN):c.238G>C (p.Glu80Gln)
NM_002485.5(NBN):c.23C>T (p.Ala8Val) rs1060503459
NM_002485.5(NBN):c.241G>C (p.Glu81Gln) rs1064795037
NM_002485.5(NBN):c.242A>G (p.Glu81Gly) rs786202085
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.248T>A (p.Met83Lys) rs940160589
NM_002485.5(NBN):c.249G>A (p.Met83Ile) rs1438838735
NM_002485.5(NBN):c.250C>A (p.Gln84Lys) rs1586108714
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.265C>A (p.Arg89=)
NM_002485.5(NBN):c.265C>G (p.Arg89Gly) rs1057516320
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.267A>G (p.Arg89=) rs1554568316
NM_002485.5(NBN):c.268A>G (p.Thr90Ala) rs1554568315
NM_002485.5(NBN):c.270T>A (p.Thr90=) rs776469548
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer) rs1586108633
NM_002485.5(NBN):c.275A>G (p.Lys92Arg) rs1554568311
NM_002485.5(NBN):c.277T>C (p.Ser93Pro)
NM_002485.5(NBN):c.277T>G (p.Ser93Ala) rs1586108601
NM_002485.5(NBN):c.27C>T (p.Gly9=) rs1554569662
NM_002485.5(NBN):c.281G>A (p.Gly94Glu) rs1586108566
NM_002485.5(NBN):c.283G>C (p.Asp95His) rs61753720
NM_002485.5(NBN):c.283G>T (p.Asp95Tyr) rs61753720
NM_002485.5(NBN):c.285T>C (p.Asp95=)
NM_002485.5(NBN):c.288T>C (p.Gly96=) rs1586108509
NM_002485.5(NBN):c.289A>G (p.Ile97Val) rs730881855
NM_002485.5(NBN):c.292A>C (p.Thr98Pro) rs1060503453
NM_002485.5(NBN):c.293C>T (p.Thr98Ile)
NM_002485.5(NBN):c.298G>T (p.Gly100Ter) rs2129914287
NM_002485.5(NBN):c.2T>C (p.Met1Thr) rs746422391
NM_002485.5(NBN):c.300A>C (p.Gly100=)
NM_002485.5(NBN):c.303G>T (p.Val101=) rs1554568287
NM_002485.5(NBN):c.304T>C (p.Phe102Leu) rs1554568285
NM_002485.5(NBN):c.305T>G (p.Phe102Cys)
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.309A>T (p.Gly103=) rs2129914059
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.312T>C (p.Ser104=) rs1554568257
NM_002485.5(NBN):c.315A>G (p.Lys105=) rs13312858
NM_002485.5(NBN):c.317T>A (p.Phe106Tyr)
NM_002485.5(NBN):c.318C>T (p.Phe106=)
NM_002485.5(NBN):c.320+1G>A rs1364533250
NM_002485.5(NBN):c.320+5G>T rs1563580422
NM_002485.5(NBN):c.320G>A (p.Arg107Lys) rs1345924774
NM_002485.5(NBN):c.321-209C>T rs869312609
NM_002485.5(NBN):c.321-2A>G rs587777931
NM_002485.5(NBN):c.321-3C>G
NM_002485.5(NBN):c.324A>G (p.Ile108Met)
NM_002485.5(NBN):c.327G>T (p.Glu109Asp)
NM_002485.5(NBN):c.328del (p.Tyr110fs) rs1554568029
NM_002485.5(NBN):c.32C>T (p.Ala11Val) rs1812242013
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.338T>C (p.Leu113Ser)
NM_002485.5(NBN):c.339G>A (p.Leu113=) rs774622977
NM_002485.5(NBN):c.340G>A (p.Val114Ile) rs771034958
NM_002485.5(NBN):c.340G>C (p.Val114Leu)
NM_002485.5(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.5(NBN):c.342T>C (p.Val114=)
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.349T>C (p.Ser117Pro) rs1563579445
NM_002485.5(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.5(NBN):c.34G>C (p.Gly12Arg) rs878854511
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.353C>T (p.Ser118Phe)
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.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.35_37+10del rs781710700
NM_002485.5(NBN):c.360A>G (p.Leu120=) rs1563579373
NM_002485.5(NBN):c.361G>T (p.Asp121Tyr) rs777916019
NM_002485.5(NBN):c.363T>A (p.Asp121Glu) rs987369991
NM_002485.5(NBN):c.364G>A (p.Val122Ile) rs786203652
NM_002485.5(NBN):c.365T>C (p.Val122Ala)
NM_002485.5(NBN):c.366C>A (p.Val122=)
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>T (p.Gly12=) rs1554569658
NM_002485.5(NBN):c.37+12A>C rs771196279
NM_002485.5(NBN):c.37+2dup rs876658183
NM_002485.5(NBN):c.37+4A>C rs1586115968
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.378T>G (p.Thr126=) rs1586107111
NM_002485.5(NBN):c.379G>A (p.Ala127Thr) rs876658453
NM_002485.5(NBN):c.379G>C (p.Ala127Pro) rs876658453
NM_002485.5(NBN):c.38-11dup rs752004731
NM_002485.5(NBN):c.38-12A>G rs773524364
NM_002485.5(NBN):c.38-2A>G rs771475965
NM_002485.5(NBN):c.38-3C>G rs876661099
NM_002485.5(NBN):c.380C>G (p.Ala127Gly) rs1554567966
NM_002485.5(NBN):c.380C>T (p.Ala127Val)
NM_002485.5(NBN):c.383T>G (p.Leu128Ter) rs1060503463
NM_002485.5(NBN):c.385A>G (p.Asn129Asp) rs1060503477
NM_002485.5(NBN):c.387T>C (p.Asn129=)
NM_002485.5(NBN):c.388C>G (p.Gln130Glu) rs1586107038
NM_002485.5(NBN):c.38_40del rs1350231265
NM_002485.5(NBN):c.392C>G (p.Ala131Gly) rs1469136096
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.396A>G (p.Ile132Met) 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.39A>C (p.Gly13=) rs876660470
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.406G>A (p.Gly136Arg) rs1554567936
NM_002485.5(NBN):c.409_430del (p.Gly137fs)
NM_002485.5(NBN):c.40G>A (p.Glu14Lys) rs745439506
NM_002485.5(NBN):c.413T>A (p.Phe138Tyr)
NM_002485.5(NBN):c.414T>C (p.Phe138=) rs1554567933
NM_002485.5(NBN):c.414del (p.Phe138fs)
NM_002485.5(NBN):c.415A>C (p.Thr139Pro) rs543852763
NM_002485.5(NBN):c.417T>C (p.Thr139=) rs760586161
NM_002485.5(NBN):c.424A>C (p.Asn142His)
NM_002485.5(NBN):c.431C>A (p.Thr144Lys)
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.436G>T (p.Glu146Ter) rs1812023357
NM_002485.5(NBN):c.442A>C (p.Thr148Pro)
NM_002485.5(NBN):c.442A>G (p.Thr148Ala) rs1060503479
NM_002485.5(NBN):c.443C>T (p.Thr148Ile)
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.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.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.461C>T (p.Ser154Leu) rs1586106651
NM_002485.5(NBN):c.462A>T (p.Ser154=) rs1214415718
NM_002485.5(NBN):c.465G>A (p.Val155=)
NM_002485.5(NBN):c.466A>C (p.Lys156Gln) rs1586106635
NM_002485.5(NBN):c.468del (p.Val157fs) rs1563578596
NM_002485.5(NBN):c.469G>A (p.Val157Ile) rs1060503486
NM_002485.5(NBN):c.471T>C (p.Val157=) rs864622275
NM_002485.5(NBN):c.473C>A (p.Thr158Asn) rs1271849120
NM_002485.5(NBN):c.473C>T (p.Thr158Ile)
NM_002485.5(NBN):c.474del (p.Ile159fs) rs1563578540
NM_002485.5(NBN):c.47A>G (p.Tyr16Cys) rs864622726
NM_002485.5(NBN):c.480+2T>G
NM_002485.5(NBN):c.480+3A>G rs756817252
NM_002485.5(NBN):c.480+5G>T
NM_002485.5(NBN):c.480A>G (p.Lys160=) rs1554567842
NM_002485.5(NBN):c.481-1G>A
NM_002485.5(NBN):c.481-2A>G rs751567476
NM_002485.5(NBN):c.481-3T>C rs1060503456
NM_002485.5(NBN):c.481A>G (p.Thr161Ala)
NM_002485.5(NBN):c.486A>G (p.Ile162Met) rs1554566760
NM_002485.5(NBN):c.489T>C (p.Cys163=)
NM_002485.5(NBN):c.48C>T (p.Tyr16=) rs2129926091
NM_002485.5(NBN):c.491C>T (p.Ala164Val)
NM_002485.5(NBN):c.492A>G (p.Ala164=) rs765493509
NM_002485.5(NBN):c.492dup (p.Leu165fs) rs1586101609
NM_002485.5(NBN):c.495C>A (p.Leu165=)
NM_002485.5(NBN):c.495C>T (p.Leu165=) rs764290829
NM_002485.5(NBN):c.499T>A (p.Cys167Ser) rs1586101551
NM_002485.5(NBN):c.4del (p.Trp2fs) rs1275657359
NM_002485.5(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.5(NBN):c.503G>C (p.Gly168Ala)
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.509C>G (p.Pro170Arg)
NM_002485.5(NBN):c.511A>C (p.Ile171Leu) rs61754966
NM_002485.5(NBN):c.515T>C (p.Val172Ala) rs1554566701
NM_002485.5(NBN):c.518A>G (p.Lys173Arg)
NM_002485.5(NBN):c.519G>C (p.Lys173Asn)
NM_002485.5(NBN):c.523G>C (p.Glu175Gln) rs730881861
NM_002485.5(NBN):c.523G>T (p.Glu175Ter)
NM_002485.5(NBN):c.525A>C (p.Glu175Asp)
NM_002485.5(NBN):c.528T>C (p.Tyr176=) rs2129889177
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>T (p.Glu179Asp) rs1554566673
NM_002485.5(NBN):c.540C>A (p.Phe180Leu)
NM_002485.5(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_002485.5(NBN):c.543G>A (p.Leu181=) rs876660833
NM_002485.5(NBN):c.545A>G (p.Lys182Arg)
NM_002485.5(NBN):c.548C>A (p.Ala183Glu)
NM_002485.5(NBN):c.549A>G (p.Ala183=) rs780661058
NM_002485.5(NBN):c.54T>G (p.Leu18=) rs1586112108
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.552_568dup (p.Pro190fs) rs1586101198
NM_002485.5(NBN):c.556T>A (p.Ser186Thr) rs1586101246
NM_002485.5(NBN):c.558C>T (p.Ser186=)
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.563dup (p.Gln189fs) rs1586101226
NM_002485.5(NBN):c.565C>G (p.Gln189Glu) rs1198614767
NM_002485.5(NBN):c.568C>A (p.Pro190Thr)
NM_002485.5(NBN):c.568C>G (p.Pro190Ala) rs1554566620
NM_002485.5(NBN):c.571C>G (p.Pro191Ala)
NM_002485.5(NBN):c.572C>T (p.Pro191Leu) rs876661071
NM_002485.5(NBN):c.574C>G (p.Gln192Glu)
NM_002485.5(NBN):c.577A>G (p.Ile193Val)
NM_002485.5(NBN):c.578T>C (p.Ile193Thr) rs1586101162
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.584+1G>A rs1811862598
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.584+3dup rs1554566607
NM_002485.5(NBN):c.584+4T>C
NM_002485.5(NBN):c.584+5A>G rs1309889719
NM_002485.5(NBN):c.585-1_585delinsC rs786203662
NM_002485.5(NBN):c.585-2A>G rs772005832
NM_002485.5(NBN):c.585-3C>T rs779430868
NM_002485.5(NBN):c.585-4A>G rs2129840021
NM_002485.5(NBN):c.585-5T>A rs1586088968
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.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.592C>T (p.Pro198Ser) rs1554564306
NM_002485.5(NBN):c.593C>T (p.Pro198Leu) rs951997505
NM_002485.5(NBN):c.59C>G (p.Thr20Ser)
NM_002485.5(NBN):c.5G>C (p.Trp2Ser)
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.604G>A (p.Glu202Lys) rs1811506628
NM_002485.5(NBN):c.607C>A (p.Pro203Thr) rs1554564291
NM_002485.5(NBN):c.608C>T (p.Pro203Leu)
NM_002485.5(NBN):c.60T>A (p.Thr20=)
NM_002485.5(NBN):c.611C>G (p.Ser204Cys) 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.61G>A (p.Gly21Ser) rs1586112049
NM_002485.5(NBN):c.620G>A (p.Ser207Asn) rs587780099
NM_002485.5(NBN):c.620G>C (p.Ser207Thr)
NM_002485.5(NBN):c.622A>C (p.Lys208Gln) rs1272494402
NM_002485.5(NBN):c.622A>G (p.Lys208Glu)
NM_002485.5(NBN):c.625A>C (p.Asn209His)
NM_002485.5(NBN):c.628G>C (p.Val210Leu) rs61754796
NM_002485.5(NBN):c.630T>C (p.Val210=)
NM_002485.5(NBN):c.631G>A (p.Asp211Asn)
NM_002485.5(NBN):c.631G>C (p.Asp211His) rs752104183
NM_002485.5(NBN):c.633T>G (p.Asp211Glu)
NM_002485.5(NBN):c.634C>A (p.Leu212Met) rs1563561889
NM_002485.5(NBN):c.634C>T (p.Leu212=) rs1563561889
NM_002485.5(NBN):c.639A>G (p.Ser213=)
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.643C>G (p.Arg215Gly) rs34767364
NM_002485.5(NBN):c.644G>T (p.Arg215Leu)
NM_002485.5(NBN):c.644_702+27dup
NM_002485.5(NBN):c.648G>A (p.Gln216=) rs786201883
NM_002485.5(NBN):c.649G>A (p.Glu217Lys) rs760275251
NM_002485.5(NBN):c.653G>T (p.Arg218Ile) rs786202250
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.659A>G (p.Gln220Arg)
NM_002485.5(NBN):c.660A>C (p.Gln220His)
NM_002485.5(NBN):c.662T>C (p.Ile221Thr) rs1187082186
NM_002485.5(NBN):c.667A>G (p.Lys223Glu)
NM_002485.5(NBN):c.668A>G (p.Lys223Arg) rs530438634
NM_002485.5(NBN):c.670G>C (p.Gly224Arg)
NM_002485.5(NBN):c.672G>C (p.Gly224=)
NM_002485.5(NBN):c.672del (p.Thr226fs) rs1586088503
NM_002485.5(NBN):c.673A>G (p.Lys225Glu) rs2129837868
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.687T>G (p.Phe229Leu) rs876660152
NM_002485.5(NBN):c.68_76del (p.Glu23_Val25del)
NM_002485.5(NBN):c.693T>C (p.Asn231=) rs878854514
NM_002485.5(NBN):c.693T>G (p.Asn231Lys)
NM_002485.5(NBN):c.694G>A (p.Ala232Thr) rs878854515
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.6G>C (p.Trp2Cys)
NM_002485.5(NBN):c.702+1G>A rs1057517104
NM_002485.5(NBN):c.702+1G>C rs1057517104
NM_002485.5(NBN):c.702+3A>G rs1586088320
NM_002485.5(NBN):c.702+4del rs1554564199
NM_002485.5(NBN):c.703-3T>C rs876659566
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.706A>G (p.Lys236Glu) rs1060503482
NM_002485.5(NBN):c.708G>T (p.Lys236Asn) rs1811466776
NM_002485.5(NBN):c.70T>G (p.Tyr24Asp) rs1812137322
NM_002485.5(NBN):c.713T>C (p.Leu238Ser) rs1358736677
NM_002485.5(NBN):c.715A>C (p.Ser239Arg) rs587781868
NM_002485.5(NBN):c.716G>A (p.Ser239Asn)
NM_002485.5(NBN):c.717T>A (p.Ser239Arg)
NM_002485.5(NBN):c.719C>A (p.Ser240Tyr) rs1554564033
NM_002485.5(NBN):c.721G>C (p.Ala241Pro) rs587781333
NM_002485.5(NBN):c.723A>G (p.Ala241=) rs1554564031
NM_002485.5(NBN):c.723A>T (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.727G>T (p.Val243Phe) rs786203253
NM_002485.5(NBN):c.736G>A (p.Gly246Ser) rs1064793212
NM_002485.5(NBN):c.737G>A (p.Gly246Asp) rs1554564023
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.744A>G (p.Glu248=) rs1554564012
NM_002485.5(NBN):c.746C>A (p.Ala249Asp) rs2129830699
NM_002485.5(NBN):c.747T>A (p.Ala249=) rs780134747
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.751T>G (p.Leu251Val)
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.764A>G (p.Glu255Gly)
NM_002485.5(NBN):c.767A>G (p.Asn256Ser) rs1554563994
NM_002485.5(NBN):c.768T>C (p.Asn256=)
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)
NM_002485.5(NBN):c.76G>T (p.Val26Phe) rs752964949
NM_002485.5(NBN):c.771A>C (p.Glu257Asp)
NM_002485.5(NBN):c.774A>G (p.Glu258=) rs1586086940
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>C (p.Asn261His)
NM_002485.5(NBN):c.782A>T (p.Asn261Ile) rs1811461476
NM_002485.5(NBN):c.784T>A (p.Phe262Ile)
NM_002485.5(NBN):c.786C>G (p.Phe262Leu) rs372159380
NM_002485.5(NBN):c.786C>T (p.Phe262=)
NM_002485.5(NBN):c.787T>A (p.Phe263Ile) rs1554563966
NM_002485.5(NBN):c.790T>C (p.Leu264=) rs2129829667
NM_002485.5(NBN):c.793G>T (p.Ala265Ser) rs876658382
NM_002485.5(NBN):c.795T>C (p.Ala265=)
NM_002485.5(NBN):c.796C>G (p.Pro266Ala) rs762956906
NM_002485.5(NBN):c.797C>G (p.Pro266Arg)
NM_002485.5(NBN):c.798G>T (p.Pro266=) rs368786672
NM_002485.5(NBN):c.802A>C (p.Thr268Pro)
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.808_809del (p.Val270fs) rs786202490
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.814G>A (p.Asp272Asn) rs1554563922
NM_002485.5(NBN):c.814G>T (p.Asp272Tyr)
NM_002485.5(NBN):c.815A>T (p.Asp272Val)
NM_002485.5(NBN):c.816T>C (p.Asp272=) rs1811457608
NM_002485.5(NBN):c.817dup (p.Thr273fs) rs730881839
NM_002485.5(NBN):c.818C>T (p.Thr273Ile) rs1554563912
NM_002485.5(NBN):c.822A>G (p.Gly274=) rs1270883453
NM_002485.5(NBN):c.826A>G (p.Thr276Ala) rs1554563895
NM_002485.5(NBN):c.827C>T (p.Thr276Ile)
NM_002485.5(NBN):c.827del (p.Thr276fs) rs1586086621
NM_002485.5(NBN):c.829A>G (p.Asn277Asp) rs1563559349
NM_002485.5(NBN):c.830A>C (p.Asn277Thr) rs876658579
NM_002485.5(NBN):c.830A>G (p.Asn277Ser) rs876658579
NM_002485.5(NBN):c.832T>A (p.Ser278Thr)
NM_002485.5(NBN):c.832T>G (p.Ser278Ala) rs1225178489
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.839C>T (p.Thr280Ile) rs2129828243
NM_002485.5(NBN):c.83_89del (p.Arg28fs) rs1554569106
NM_002485.5(NBN):c.840C>A (p.Thr280=) rs876659147
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.844dup (p.Ile282fs) rs1554563861
NM_002485.5(NBN):c.845T>C (p.Ile282Thr) rs786202604
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.848C>G (p.Pro283Arg)
NM_002485.5(NBN):c.848C>T (p.Pro283Leu)
NM_002485.5(NBN):c.848del (p.Pro283fs) rs2129827996
NM_002485.5(NBN):c.849T>C (p.Pro283=)
NM_002485.5(NBN):c.851A>G (p.Asp284Gly) rs772176894
NM_002485.5(NBN):c.854G>C (p.Cys285Ser) rs863224715
NM_002485.5(NBN):c.854G>T (p.Cys285Phe)
NM_002485.5(NBN):c.857A>C (p.Gln286Pro) rs1586086458
NM_002485.5(NBN):c.857A>G (p.Gln286Arg) rs1586086458
NM_002485.5(NBN):c.858G>T (p.Gln286His)
NM_002485.5(NBN):c.864A>G (p.Lys288=) rs1554563842
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.872A>C (p.Gln291Pro) rs587778547
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.874T>C (p.Ser292Pro) rs876660700
NM_002485.5(NBN):c.875C>T (p.Ser292Leu) rs1811450946
NM_002485.5(NBN):c.877A>T (p.Ile293Leu)
NM_002485.5(NBN):c.87A>G (p.Lys29=)
NM_002485.5(NBN):c.880A>T (p.Met294Leu) rs746381477
NM_002485.5(NBN):c.880_886del (p.Met294fs) rs1586086338
NM_002485.5(NBN):c.882G>A (p.Met294Ile)
NM_002485.5(NBN):c.882G>C (p.Met294Ile) rs1811450172
NM_002485.5(NBN):c.883G>A (p.Asp295Asn)
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.888G>T (p.Met296Ile)
NM_002485.5(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.891C>T (p.Leu297=) rs1554563793
NM_002485.5(NBN):c.895A>C (p.Arg299=) rs1554563784
NM_002485.5(NBN):c.896+2T>C rs754659423
NM_002485.5(NBN):c.896G>A (p.Arg299Lys)
NM_002485.5(NBN):c.897-1G>A rs1586076299
NM_002485.5(NBN):c.897-3T>C rs2129787405
NM_002485.5(NBN):c.897-4A>G rs876659763
NM_002485.5(NBN):c.897-5A>G rs1586076321
NM_002485.5(NBN):c.897G>T (p.Arg299Ser) rs779798363
NM_002485.5(NBN):c.899A>G (p.Gln300Arg) rs758070132
NM_002485.5(NBN):c.89A>G (p.Asn30Ser) rs587781450
NM_002485.5(NBN):c.8A>C (p.Lys3Thr)
NM_002485.5(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.5(NBN):c.901G>C (p.Gly301Arg) rs1280333137
NM_002485.5(NBN):c.909A>G (p.Arg303=)
NM_002485.5(NBN):c.911C>G (p.Pro304Arg) rs536965870
NM_002485.5(NBN):c.912T>C (p.Pro304=)
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.917C>T (p.Pro306Leu) rs1563548981
NM_002485.5(NBN):c.917del (p.Pro306fs) rs1554562185
NM_002485.5(NBN):c.91T>C (p.Cys31Arg) rs876658553
NM_002485.5(NBN):c.923C>G (p.Ala308Gly) 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.926A>C (p.Glu309Ala)
NM_002485.5(NBN):c.928A>C (p.Ile310Leu) rs1586076147
NM_002485.5(NBN):c.930T>C (p.Ile310=) rs142813526
NM_002485.5(NBN):c.932G>A (p.Gly311Glu) rs1563548856
NM_002485.5(NBN):c.932G>T (p.Gly311Val) rs1563548856
NM_002485.5(NBN):c.936G>C (p.Leu312Phe) rs148517156
NM_002485.5(NBN):c.937G>A (p.Ala313Thr)
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.93del (p.Cys31fs)
NM_002485.5(NBN):c.942G>A (p.Val314=) rs749757928
NM_002485.5(NBN):c.942G>T (p.Val314=)
NM_002485.5(NBN):c.943A>G (p.Ile315Val) rs878854517
NM_002485.5(NBN):c.948C>G (p.Phe316Leu)
NM_002485.5(NBN):c.950T>A (p.Met317Lys)
NM_002485.5(NBN):c.950T>C (p.Met317Thr) rs1586075983
NM_002485.5(NBN):c.950T>G (p.Met317Arg)
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.957A>T (p.Thr319=) rs1586075933
NM_002485.5(NBN):c.958A>G (p.Lys320Glu) rs1563548624
NM_002485.5(NBN):c.960G>T (p.Lys320Asn) rs1554562125
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.969T>G (p.Cys323Trp)
NM_002485.5(NBN):c.972T>C (p.Asp324=)
NM_002485.5(NBN):c.972T>G (p.Asp324Glu)
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.975T>A (p.Pro325=)
NM_002485.5(NBN):c.975T>C (p.Pro325=)
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.979G>A (p.Gly327Ser)
NM_002485.5(NBN):c.979G>C (p.Gly327Arg)
NM_002485.5(NBN):c.97A>G (p.Ile33Val) rs1563584435
NM_002485.5(NBN):c.981C>G (p.Gly327=)
NM_002485.5(NBN):c.983A>G (p.His328Arg) rs1554562099
NM_002485.5(NBN):c.989G>A (p.Ser330Asn) rs1811142330
NM_002485.5(NBN):c.98T>A (p.Ile33Asn)
NM_002485.5(NBN):c.991A>G (p.Thr331Ala)
NM_002485.5(NBN):c.992C>G (p.Thr331Arg) rs587782905
NM_002485.5(NBN):c.993A>G (p.Thr331=) rs876659523
NM_002485.5(NBN):c.994+1G>T rs1554562083
NM_002485.5(NBN):c.994+1del
NM_002485.5(NBN):c.994+2090C>G rs869312608
NM_002485.5(NBN):c.994+2T>C rs1586075690
NM_002485.5(NBN):c.994G>A (p.Gly332Arg) rs1437392838
NM_002485.5(NBN):c.995-23_998inv
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002485.5(NBN):c.995-3C>T
NM_002485.5(NBN):c.999A>G (p.Leu333=)
NM_002485.5(NBN):c.99T>G (p.Ile33Met) rs1172365532
NM_002485.5(NBN):c.9del (p.Lys3fs)

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