ClinVar Miner

List of variants in gene NBN reported as uncertain significance for Nijmegen breakage syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1454
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.*987T>G rs78935210 0.00547
NM_002485.5(NBN):c.*401C>G rs104895030 0.00535
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.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002485.5(NBN):c.*1823T>C rs556606685 0.00134
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_002485.5(NBN):c.*2188T>C rs190894937 0.00097
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_002485.5(NBN):c.*504A>G rs3780123 0.00044
NM_002485.5(NBN):c.*2206C>T rs547081912 0.00035
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
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.786C>A (p.Phe262Leu) rs372159380 0.00021
NM_002485.5(NBN):c.37+6G>A rs540868733 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.38-10T>A rs556807466 0.00015
NM_002485.5(NBN):c.*2059A>C rs755199398 0.00014
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro) rs747315554 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002485.5(NBN):c.*983G>A rs13312983 0.00013
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 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.*522T>C rs886063164 0.00009
NM_002485.5(NBN):c.*829T>A rs752958453 0.00009
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_002485.5(NBN):c.*1287A>G rs989124878 0.00007
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) rs367760321 0.00007
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr) rs201781110 0.00007
NM_002485.5(NBN):c.227C>A (p.Thr76Asn) rs587781412 0.00007
NM_002485.4(NBN):c.*2252T>A rs1002146586 0.00006
NM_002485.5(NBN):c.*638G>A rs976356195 0.00006
NM_002485.5(NBN):c.1398-10T>A rs539960851 0.00006
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) rs587781881 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.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys) rs544909538 0.00004
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002485.5(NBN):c.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.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.*485A>G rs886063165 0.00003
NM_002485.5(NBN):c.1255A>T (p.Asn419Tyr) rs730881849 0.00003
NM_002485.5(NBN):c.139G>A (p.Val47Met) rs876658446 0.00003
NM_002485.5(NBN):c.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.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.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.935T>C (p.Leu312Ser) rs371480039 0.00003
NM_002485.5(NBN):c.*123T>A rs886063167 0.00002
NM_002485.5(NBN):c.*1267A>G rs1356012750 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.1125-3C>T rs587781326 0.00002
NM_002485.5(NBN):c.1204A>G (p.Thr402Ala) rs201373377 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.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.2141G>A (p.Arg714Gln) rs753270166 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.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.*352C>G rs13312978 0.00001
NM_002485.5(NBN):c.-7C>A rs1210776869 0.00001
NM_002485.5(NBN):c.1009A>G (p.Thr337Ala) rs1554560492 0.00001
NM_002485.5(NBN):c.1010C>T (p.Thr337Ile) rs1335655343 0.00001
NM_002485.5(NBN):c.1012C>A (p.Pro338Thr) rs1554560467 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.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.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.112G>C (p.Asp38His) rs876659565 0.00001
NM_002485.5(NBN):c.1147G>A (p.Glu383Lys) rs772909239 0.00001
NM_002485.5(NBN):c.1152C>G (p.Ile384Met) rs551802153 0.00001
NM_002485.5(NBN):c.1154A>G (p.Lys385Arg) rs769453547 0.00001
NM_002485.5(NBN):c.1163A>G (p.Lys388Arg) rs947104724 0.00001
NM_002485.5(NBN):c.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.1247T>C (p.Met416Thr) rs863224713 0.00001
NM_002485.5(NBN):c.1248G>T (p.Met416Ile) rs756572268 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.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.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.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.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.1567T>C (p.Phe523Leu) rs1554558419 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.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.1684G>A (p.Val562Ile) rs754651655 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+3A>G rs1487002693 0.00001
NM_002485.5(NBN):c.171+4T>C rs587782290 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.1754A>G (p.Glu585Gly) rs763926389 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+6T>C rs1033050295 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.1973A>G (p.Glu658Gly) rs587782155 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.2012A>G (p.Asn671Ser) rs1563513183 0.00001
NM_002485.5(NBN):c.2023A>G (p.Ile675Val) rs1586040318 0.00001
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser) rs200564603 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.2099C>G (p.Pro700Arg) rs1367898317 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.2149A>T (p.Thr717Ser) rs587780093 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.2197C>G (p.His733Asp) rs1311278427 0.00001
NM_002485.5(NBN):c.2201C>T (p.Ala734Val) rs751824753 0.00001
NM_002485.5(NBN):c.2235A>G (p.Arg745=) rs754865465 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.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.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.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.37+3A>G rs764356392 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.38-7A>G rs863224392 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.427T>C (p.Trp143Arg) rs770995856 0.00001
NM_002485.5(NBN):c.42A>C (p.Glu14Asp) rs957561936 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.468A>C (p.Lys156Asn) rs730881858 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.514G>A (p.Val172Ile) rs1586101456 0.00001
NM_002485.5(NBN):c.520C>A (p.Pro174Thr) rs587778546 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.584+3A>G rs587782407 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.620G>T (p.Ser207Ile) rs587780099 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.666C>T (p.Phe222=) rs876661098 0.00001
NM_002485.5(NBN):c.692A>G (p.Asn231Ser) rs1309274168 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.772G>C (p.Glu258Gln) rs922057169 0.00001
NM_002485.5(NBN):c.773A>G (p.Glu258Gly) rs786203380 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.800G>A (p.Gly267Glu) rs747837246 0.00001
NM_002485.5(NBN):c.806G>A (p.Cys269Tyr) rs768822147 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.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.986C>T (p.Pro329Leu) rs1386471248 0.00001
NM_002485.5(NBN):c.994+5T>C rs778254433 0.00001
NC_000008.10:g.(?_90944564)_(90997899_?)dup
NC_000008.10:g.(?_90947804)_(90955600_?)dup
NC_000008.10:g.(?_90947810)_(90958533_?)dup
NC_000008.10:g.(?_90947810)_(90967793_?)dup
NC_000008.10:g.(?_90947810)_(90976745_?)dup
NC_000008.10:g.(?_90955471)_(90996789_?)dup
NC_000008.10:g.(?_90958358)_(90996789_?)dup
NC_000008.10:g.(?_90982582)_(90983528_?)del
NC_000008.10:g.(?_90982582)_(90996789_?)dup
NC_000008.10:g.(?_90993593)_(90996789_?)dup
NC_000008.11:g.(?_89935572)_(89964517_?)dup
NC_000008.11:g.(?_89935582)_(89958864_?)dup
NC_000008.11:g.(?_89935582)_(89984561_?)dup
NC_000008.11:g.(?_89946130)_(89984571_?)dup
NC_000008.11:g.(?_89978210)_(89984561_?)dup
NM_002485.4(NBN):c.(?_-1)_(*1_?)dup
NM_002485.5(NBN):c.*1220C>G rs1040887182
NM_002485.5(NBN):c.*1297T>G rs547479870
NM_002485.5(NBN):c.*1400C>T rs532490798
NM_002485.5(NBN):c.*1562A>G rs1809551804
NM_002485.5(NBN):c.*1642A>G rs769415813
NM_002485.5(NBN):c.*1869_*1872del rs886063163
NM_002485.5(NBN):c.*226T>C rs886063166
NM_002485.5(NBN):c.*364_*393del rs1554553737
NM_002485.5(NBN):c.*680A>G rs1809594322
NM_002485.5(NBN):c.-2C>A rs202104448
NM_002485.5(NBN):c.-3C>T rs1276313619
NM_002485.5(NBN):c.-46C>A rs751549166
NM_002485.5(NBN):c.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.1012C>T (p.Pro338Ser) rs1554560467
NM_002485.5(NBN):c.1013C>T (p.Pro338Leu) rs2129746873
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>T (p.Ser343Leu) rs1810856747
NM_002485.5(NBN):c.102_103delinsAT (p.Ile35Phe)
NM_002485.5(NBN):c.1031A>G (p.Gln344Arg) rs2129746440
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.1037T>C (p.Val346Ala) rs2129746243
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.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.1046A>T (p.Asp349Val) rs876659431
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>G (p.Ile35Met) rs78870221
NM_002485.5(NBN):c.1060C>G (p.Pro354Ala) rs1064794336
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser) rs1064794336
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu) rs1354459986
NM_002485.5(NBN):c.1063A>T (p.Ser355Cys) rs762376159
NM_002485.5(NBN):c.1064G>A (p.Ser355Asn)
NM_002485.5(NBN):c.1065C>A (p.Ser355Arg)
NM_002485.5(NBN):c.1066G>T (p.Ala356Ser)
NM_002485.5(NBN):c.1073T>G (p.Val358Gly) rs1563538793
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.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.1090G>T (p.Val364Leu) rs765403660
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.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.1104_1109del (p.Ser369_Glu370del) rs1425019959
NM_002485.5(NBN):c.1105T>C (p.Ser369Pro) rs2129744768
NM_002485.5(NBN):c.1106C>T (p.Ser369Leu)
NM_002485.5(NBN):c.1108G>A (p.Glu370Lys)
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.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+18_1124+19delinsTT rs1554560320
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.1124G>C (p.Trp375Ser) rs1394437421
NM_002485.5(NBN):c.1125G>C (p.Trp375Cys)
NM_002485.5(NBN):c.1129T>G (p.Leu377Val) rs587780547
NM_002485.5(NBN):c.112G>T (p.Asp38Tyr)
NM_002485.5(NBN):c.1133G>C (p.Ser378Thr) rs864622123
NM_002485.5(NBN):c.1136A>G (p.Glu379Gly) rs1563532732
NM_002485.5(NBN):c.1138A>G (p.Arg380Gly) rs1810674788
NM_002485.5(NBN):c.113A>T (p.Asp38Val) rs2129925061
NM_002485.5(NBN):c.1141C>A (p.Pro381Thr) rs2129722201
NM_002485.5(NBN):c.1146A>C (p.Lys382Asn) rs1554559357
NM_002485.5(NBN):c.1147G>C (p.Glu383Gln) rs772909239
NM_002485.5(NBN):c.1153A>G (p.Lys385Glu) rs1563532612
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.1160C>G (p.Ser387Cys) rs747632184
NM_002485.5(NBN):c.1162A>G (p.Lys388Glu) rs1252203605
NM_002485.5(NBN):c.1166T>C (p.Met389Thr) rs1810671504
NM_002485.5(NBN):c.1167G>A (p.Met389Ile)
NM_002485.5(NBN):c.116A>G (p.Gln39Arg)
NM_002485.5(NBN):c.116A>T (p.Gln39Leu) rs765551184
NM_002485.5(NBN):c.1172A>G (p.Gln391Arg) rs201958895
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.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.1190C>T (p.Ser397Leu) rs1554559308
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.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.1205_1209del (p.Thr402fs) rs1563532144
NM_002485.5(NBN):c.1208T>A (p.Val403Glu) rs1554559273
NM_002485.5(NBN):c.1210A>G (p.Lys404Glu) rs761214266
NM_002485.5(NBN):c.1213G>A (p.Glu405Lys) rs1810666621
NM_002485.5(NBN):c.1217C>A (p.Ser406Tyr) rs1810666233
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>G (p.Cys407Trp)
NM_002485.5(NBN):c.1225A>G (p.Thr409Ala)
NM_002485.5(NBN):c.1226C>T (p.Thr409Ile) rs1810665559
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.1231T>C (p.Ser411Pro) rs1563531982
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys) rs551032019
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>G (p.Ile41Met) rs887413615
NM_002485.5(NBN):c.1241A>G (p.Asn414Ser) rs1554559235
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>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.1253C>T (p.Ser418Leu) 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.1259C>G (p.Thr420Ser)
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.1268A>G (p.Lys423Arg) rs1444306607
NM_002485.5(NBN):c.1272G>A (p.Met424Ile)
NM_002485.5(NBN):c.1272G>T (p.Met424Ile)
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.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.1295C>T (p.Ser432Leu) rs1258938703
NM_002485.5(NBN):c.1298C>G (p.Pro433Arg) rs1554559140
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.1309C>T (p.Pro437Ser) rs1810656128
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.1322A>C (p.Lys441Thr) rs1329281031
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.1331A>C (p.Asp444Ala) rs1237800234
NM_002485.5(NBN):c.1335G>C (p.Arg445Ser) rs1554559085
NM_002485.5(NBN):c.1335G>T (p.Arg445Ser) rs1554559085
NM_002485.5(NBN):c.1336G>A (p.Ala446Thr) rs1586058411
NM_002485.5(NBN):c.133C>T (p.His45Tyr) rs773865323
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.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>C (p.Gln451His) rs1554559063
NM_002485.5(NBN):c.1355C>T (p.Thr452Ile) rs1810650900
NM_002485.5(NBN):c.1358A>C (p.Asn453Thr)
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.1368A>C (p.Arg456Ser) 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.1377T>G (p.Phe459Leu) rs1397458119
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.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.1393A>G (p.Lys465Glu)
NM_002485.5(NBN):c.1394A>G (p.Lys465Arg)
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.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.1398-5C>G rs2129704548
NM_002485.5(NBN):c.1398-7A>G rs1563527772
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.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.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.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.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.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.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.1441G>C (p.Ala481Pro) rs2129703568
NM_002485.5(NBN):c.1442C>T (p.Ala481Val)
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.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.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.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.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.1483C>T (p.Pro495Ser) rs747027298
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.1490C>T (p.Thr497Ile) rs1563527011
NM_002485.5(NBN):c.1492C>A (p.Pro498Thr) rs915825113
NM_002485.5(NBN):c.1492C>T (p.Pro498Ser)
NM_002485.5(NBN):c.1493C>A (p.Pro498His)
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro) rs1554558483
NM_002485.5(NBN):c.1496C>T (p.Ser499Leu) rs772411713
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.1503G>T (p.Trp501Cys)
NM_002485.5(NBN):c.1509T>A (p.Asn503Lys) 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.1513G>A (p.Glu505Lys) rs1810553632
NM_002485.5(NBN):c.1516C>A (p.Gln506Lys)
NM_002485.5(NBN):c.1516C>G (p.Gln506Glu) 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.1525T>A (p.Ser509Thr)
NM_002485.5(NBN):c.1525T>C (p.Ser509Pro) rs1810552588
NM_002485.5(NBN):c.1526C>A (p.Ser509Tyr) rs1554558450
NM_002485.5(NBN):c.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>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.1537C>T (p.Pro513Ser) rs1810551219
NM_002485.5(NBN):c.1538C>T (p.Pro513Leu) rs1554558440
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.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.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.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.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.1583T>C (p.Leu528Ser)
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.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.1628A>C (p.Glu543Ala) rs587781624
NM_002485.5(NBN):c.1631A>G (p.Lys544Arg) rs2129699796
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.1642A>G (p.Asn548Asp) rs772234785
NM_002485.5(NBN):c.1643A>G (p.Asn548Ser)
NM_002485.5(NBN):c.1645A>G (p.Lys549Glu) rs1810540992
NM_002485.5(NBN):c.1646A>T (p.Lys549Ile)
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.1654G>C (p.Glu552Gln) rs1064793213
NM_002485.5(NBN):c.1657A>T (p.Met553Leu) rs746347634
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.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.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.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.1687T>A (p.Leu563Met) 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.1691A>G (p.Glu564Gly) rs1554558323
NM_002485.5(NBN):c.1693C>A (p.Gln565Lys) rs1586053399
NM_002485.5(NBN):c.1699T>C (p.Phe567Leu) rs1554558312
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.1701C>G (p.Phe567Leu) rs730881853
NM_002485.5(NBN):c.1702A>G (p.Lys568Glu)
NM_002485.5(NBN):c.1706A>G (p.Asp569Gly)
NM_002485.5(NBN):c.1708A>G (p.Thr570Ala) rs730881854
NM_002485.5(NBN):c.171+4T>A rs587782290
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.1717G>C (p.Glu573Gln) rs2129697994
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.172-3C>G rs587781620
NM_002485.5(NBN):c.172-5_172-4del
NM_002485.5(NBN):c.172-8C>G rs1335357045
NM_002485.5(NBN):c.1720T>G (p.Leu574Val) rs142334798
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>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.1735A>C (p.Lys579Gln) rs993110145
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.1749GGA[1] (p.Glu585del) rs1554558265
NM_002485.5(NBN):c.1752G>C (p.Glu584Asp) rs1554558267
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.1769G>A (p.Arg590Lys)
NM_002485.5(NBN):c.1769G>C (p.Arg590Thr) rs1563524967
NM_002485.5(NBN):c.1774A>G (p.Arg592Gly) rs1554558245
NM_002485.5(NBN):c.1775G>T (p.Arg592Met) rs1586052969
NM_002485.5(NBN):c.1776G>T (p.Arg592Ser) rs1554558244
NM_002485.5(NBN):c.1777C>A (p.Pro593Thr) rs146989944
NM_002485.5(NBN):c.1777C>T (p.Pro593Ser)
NM_002485.5(NBN):c.1780A>G (p.Arg594Gly) rs1554558241
NM_002485.5(NBN):c.1783A>G (p.Met595Val) rs2129696684
NM_002485.5(NBN):c.1785G>A (p.Met595Ile) rs1586052885
NM_002485.5(NBN):c.1786G>A (p.Asp596Asn) rs1467034784
NM_002485.5(NBN):c.1786G>C (p.Asp596His) rs1467034784
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly) rs1005715125
NM_002485.5(NBN):c.1787A>T (p.Asp596Val) rs1005715125
NM_002485.5(NBN):c.1789A>T (p.Ile597Leu) rs864622167
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.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.1808T>C (p.Phe603Ser) rs1810522468
NM_002485.5(NBN):c.1808T>G (p.Phe603Cys) rs1810522468
NM_002485.5(NBN):c.1812T>A (p.Ser604Arg)
NM_002485.5(NBN):c.181G>A (p.Asp61Asn)
NM_002485.5(NBN):c.181G>C (p.Asp61His)
NM_002485.5(NBN):c.1820C>T (p.Ala607Val) rs1810521873
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.1831A>G (p.Ser611Gly)
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu) rs1554558199
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+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.1845T>C (p.Ser615=) rs1810519877
NM_002485.5(NBN):c.185A>T (p.Glu62Val) rs1812067152
NM_002485.5(NBN):c.186A>C (p.Glu62Asp) rs1586109110
NM_002485.5(NBN):c.188T>A (p.Ile63Asn) rs961554359
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.1915-10C>G rs1586040877
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.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.1927C>G (p.Leu643Val) rs1586040775
NM_002485.5(NBN):c.1927C>T (p.Leu643Phe)
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.193G>T (p.Val65Leu) rs778998026
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg) 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.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.1974A>T (p.Glu658Asp)
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.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.1982C>T (p.Ser661Leu) rs1810183784
NM_002485.5(NBN):c.1985T>G (p.Leu662Arg) rs1810183362
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.1990A>T (p.Ile664Phe) rs2129647841
NM_002485.5(NBN):c.1993A>G (p.Lys665Glu) 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.199A>G (p.Thr67Ala) rs876660922
NM_002485.5(NBN):c.19G>C (p.Ala7Pro) rs587780779
NM_002485.5(NBN):c.2003C>G (p.Thr668Ser) rs876658336
NM_002485.5(NBN):c.2003C>T (p.Thr668Ile) rs876658336
NM_002485.5(NBN):c.2008A>G (p.Arg670Gly) rs876658488
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys) rs1554556522
NM_002485.5(NBN):c.200C>T (p.Thr67Ile) rs1015793589
NM_002485.5(NBN):c.2012A>C (p.Asn671Thr) rs1563513183
NM_002485.5(NBN):c.2013T>G (p.Asn671Lys) rs1586040407
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.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.2039G>A (p.Gly680Asp)
NM_002485.5(NBN):c.2039G>T (p.Gly680Val) rs1425101720
NM_002485.5(NBN):c.2041C>G (p.Gln681Glu) rs1554556485
NM_002485.5(NBN):c.2045T>G (p.Leu682Arg)
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>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.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.2058G>T (p.Lys686Asn) rs2130763599
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.2068A>C (p.Lys690Gln) rs587780092
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.2070G>A (p.Lys690=)
NM_002485.5(NBN):c.2070G>T (p.Lys690Asn) rs1810173689
NM_002485.5(NBN):c.2071-4A>T rs746994234
NM_002485.5(NBN):c.2071-6C>A rs768670249
NM_002485.5(NBN):c.2071G>T (p.Val691Phe) rs772059959
NM_002485.5(NBN):c.2072T>G (p.Val691Gly) rs1563508748
NM_002485.5(NBN):c.2074A>G (p.Thr692Ala)
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.2080C>T (p.Pro694Ser) rs1586035536
NM_002485.5(NBN):c.2081C>G (p.Pro694Arg) rs746090959
NM_002485.5(NBN):c.2083G>A (p.Gly695Arg) rs1554555835
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>T (p.Ala696Val) rs1462278909
NM_002485.5(NBN):c.208G>A (p.Asp70Asn) rs560337591
NM_002485.5(NBN):c.2090G>A (p.Gly697Glu)
NM_002485.5(NBN):c.2092A>G (p.Lys698Glu) rs1586035456
NM_002485.5(NBN):c.2096T>C (p.Leu699Pro) rs1810039016
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.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.2102A>C (p.His701Pro)
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>G (p.Asp70Glu) rs1554568357
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.2119G>C (p.Asp707His)
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.2125_2127delinsCTG (p.Ile709Leu) rs1586035313
NM_002485.5(NBN):c.2126T>C (p.Ile709Thr)
NM_002485.5(NBN):c.2128G>C (p.Ala710Pro) rs1554555808
NM_002485.5(NBN):c.212A>C (p.Asn71Thr)
NM_002485.5(NBN):c.212A>G (p.Asn71Ser)
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.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.2140C>G (p.Arg714Gly) rs730881864
NM_002485.5(NBN):c.2141G>C (p.Arg714Pro) rs753270166
NM_002485.5(NBN):c.2143A>C (p.Lys715Gln) rs2130755556
NM_002485.5(NBN):c.2144A>G (p.Lys715Arg)
NM_002485.5(NBN):c.214_215insGGAACCGCTCGGGGCAGC (p.Ser72delinsTrpAsnArgSerGlyGlnPro) rs1554568352
NM_002485.5(NBN):c.214_216del (p.Ser72del)
NM_002485.5(NBN):c.2150C>G (p.Thr717Arg)
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.5(NBN):c.2155C>G (p.Leu719Val) rs1563508063
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.2160A>C (p.Glu720Asp) rs1810032277
NM_002485.5(NBN):c.2161G>C (p.Glu721Gln) 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.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.2170A>G (p.Arg724Gly) rs1586035037
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.2181G>A (p.Met727Ile) rs1586034984
NM_002485.5(NBN):c.2183A>T (p.Glu728Val) rs1060503487
NM_002485.5(NBN):c.2184+5G>A rs1563507830
NM_002485.5(NBN):c.2184+6T>A rs1810029317
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.2185-20_2185-4del rs2130739432
NM_002485.5(NBN):c.2185-3C>T rs1809726732
NM_002485.5(NBN):c.2185-7T>G rs1563497932
NM_002485.5(NBN):c.2186T>C (p.Val729Ala) rs1809726528
NM_002485.5(NBN):c.2188C>A (p.Gln730Lys) rs1554554267
NM_002485.5(NBN):c.2191A>T (p.Asn731Tyr) rs369649307
NM_002485.5(NBN):c.2198A>G (p.His733Arg) rs998714046
NM_002485.5(NBN):c.2198dup (p.His733fs)
NM_002485.5(NBN):c.21C>A (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.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.2219C>A (p.Ala740Asp) rs1554554240
NM_002485.5(NBN):c.2219C>T (p.Ala740Val) rs1554554240
NM_002485.5(NBN):c.221A>G (p.Tyr74Cys) rs1060503471
NM_002485.5(NBN):c.2221G>A (p.Asp741Asn) rs1586024237
NM_002485.5(NBN):c.2221GAT[1] (p.Asp742del) rs1421967400
NM_002485.5(NBN):c.2222A>T (p.Asp741Val)
NM_002485.5(NBN):c.2224G>A (p.Asp742Asn)
NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr) rs746479577
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu) rs767523514
NM_002485.5(NBN):c.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.2231T>G (p.Phe744Cys)
NM_002485.5(NBN):c.2232del (p.Phe744fs) rs1554554233
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.2235-3C>T rs1554553897
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.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.2256_2258del (p.Arg754del) rs1809632212
NM_002485.5(NBN):c.2256del (p.Arg753fs) rs1809632346
NM_002485.5(NBN):c.2258G>A (p.Arg753Lys) rs773020664
NM_002485.5(NBN):c.2258G>C (p.Arg753Thr) rs773020664
NM_002485.5(NBN):c.2260A>G (p.Arg754Gly)
NM_002485.5(NBN):c.2263T>C (p.Ter755Gln) rs1563495055
NM_002485.5(NBN):c.227C>T (p.Thr76Ile) rs587781412
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.232G>A (p.Val78Ile)
NM_002485.5(NBN):c.235A>C (p.Asn79His) rs786202749
NM_002485.5(NBN):c.235A>G (p.Asn79Asp) rs786202749
NM_002485.5(NBN):c.23C>G (p.Ala8Gly) rs1060503459
NM_002485.5(NBN):c.23C>T (p.Ala8Val) rs1060503459
NM_002485.5(NBN):c.241G>C (p.Glu81Gln) rs1064795037
NM_002485.5(NBN):c.242A>G (p.Glu81Gly) rs786202085
NM_002485.5(NBN):c.242A>T (p.Glu81Val) rs786202085
NM_002485.5(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_002485.5(NBN):c.245A>G (p.Lys82Arg)
NM_002485.5(NBN):c.247A>G (p.Met83Val) rs955258267
NM_002485.5(NBN):c.247A>T (p.Met83Leu) rs955258267
NM_002485.5(NBN):c.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.256G>C (p.Gly86Arg) rs2129915101
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.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.269C>T (p.Thr90Ile) rs1812059152
NM_002485.5(NBN):c.26G>A (p.Gly9Asp)
NM_002485.5(NBN):c.26G>T (p.Gly9Val) rs1554569664
NM_002485.5(NBN):c.275A>G (p.Lys92Arg) rs1554568311
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.283G>C (p.Asp95His) rs61753720
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.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.304T>C (p.Phe102Leu) rs1554568285
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.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.318C>G (p.Phe106Leu) rs1161413131
NM_002485.5(NBN):c.31G>A (p.Ala11Thr)
NM_002485.5(NBN):c.320+4A>G
NM_002485.5(NBN):c.320+5G>T rs1563580422
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.321-3C>G
NM_002485.5(NBN):c.321-6T>G
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>T (p.Glu109Asp)
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.339G>T (p.Leu113Phe) rs774622977
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.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.351_359del (p.Ser118_Leu120del) rs2129910321
NM_002485.5(NBN):c.353C>T (p.Ser118Phe)
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.359T>C (p.Leu120Ser) 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.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+2dup rs876658183
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>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.376A>T (p.Thr126Ser) rs1484120047
NM_002485.5(NBN):c.379_380delinsTA (p.Ala127Tyr)
NM_002485.5(NBN):c.38-10T>G
NM_002485.5(NBN):c.38-3C>G rs876661099
NM_002485.5(NBN):c.38-3C>T rs876661099
NM_002485.5(NBN):c.380C>G (p.Ala127Gly) rs1554567966
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.395T>C (p.Ile132Thr) rs1563579078
NM_002485.5(NBN):c.396A>G (p.Ile132Met) rs1060503462
NM_002485.5(NBN):c.399G>T (p.Leu133Phe) rs2129909551
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.403C>G (p.Leu135Val) rs1409617560
NM_002485.5(NBN):c.403C>T (p.Leu135Phe)
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.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.416C>T (p.Thr139Ile) rs2129909239
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.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.436G>A (p.Glu146Lys) rs1812023357
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.447C>A (p.His149Gln) rs868089138
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.454A>G (p.Met152Val) rs1554567872
NM_002485.5(NBN):c.458T>C (p.Val153Ala) rs1554567865
NM_002485.5(NBN):c.469G>A (p.Val157Ile) rs1060503486
NM_002485.5(NBN):c.472A>G (p.Thr158Ala)
NM_002485.5(NBN):c.472A>T (p.Thr158Ser) rs2129908259
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+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.480A>G (p.Lys160=) rs1554567842
NM_002485.5(NBN):c.481-3T>C rs1060503456
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.490G>A (p.Ala164Thr) rs786201252
NM_002485.5(NBN):c.494T>G (p.Leu165Arg) rs1060503458
NM_002485.5(NBN):c.499T>A (p.Cys167Ser) rs1586101551
NM_002485.5(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.5(NBN):c.508C>G (p.Pro170Ala) rs1554566720
NM_002485.5(NBN):c.511A>C (p.Ile171Leu) rs61754966
NM_002485.5(NBN):c.512T>G (p.Ile171Ser)
NM_002485.5(NBN):c.515T>C (p.Val172Ala) rs1554566701
NM_002485.5(NBN):c.517A>G (p.Lys173Glu) rs1563574056
NM_002485.5(NBN):c.519G>C (p.Lys173Asn)
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.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.535G>A (p.Glu179Lys) rs1293382034
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.541C>A (p.Leu181Met) rs1060504930
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.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>G (p.Leu19Val) rs1586112097
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.568C>G (p.Pro190Ala) rs1554566620
NM_002485.5(NBN):c.568C>T (p.Pro190Ser) rs1554566620
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.578T>C (p.Ile193Thr) rs1586101162
NM_002485.5(NBN):c.580G>A (p.Glu194Lys) rs1554566610
NM_002485.5(NBN):c.584+5A>G rs1309889719
NM_002485.5(NBN):c.584+6T>C rs1554566602
NM_002485.5(NBN):c.584G>A (p.Ser195Asn) rs1811862674
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.587T>A (p.Phe196Tyr) rs1811508521
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.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.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.607C>A (p.Pro203Thr) rs1554564291
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.619A>G (p.Ser207Gly) rs2129839074
NM_002485.5(NBN):c.622A>G (p.Lys208Glu)
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.631G>C (p.Asp211His) rs752104183
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.640G>C (p.Gly214Arg) rs1554564269
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.655A>C (p.Lys219Gln) rs730881846
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.668A>G (p.Lys223Arg) rs530438634
NM_002485.5(NBN):c.673A>G (p.Lys225Glu) rs2129837868
NM_002485.5(NBN):c.677C>T (p.Thr226Ile) rs1554564219
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.692A>C (p.Asn231Thr) rs1309274168
NM_002485.5(NBN):c.694G>A (p.Ala232Thr) rs878854515
NM_002485.5(NBN):c.697A>C (p.Lys233Gln) rs1554564205
NM_002485.5(NBN):c.697A>G (p.Lys233Glu)
NM_002485.5(NBN):c.701A>G (p.Gln234Arg) rs1586088352
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.703-6T>G rs1563560265
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.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.722C>T (p.Ala241Val)
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.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.73G>T (p.Val25Phe) rs587781748
NM_002485.5(NBN):c.74TTG[1] (p.Val26del) rs2129925669
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.764A>G (p.Glu255Gly)
NM_002485.5(NBN):c.765G>C (p.Glu255Asp) rs2129830286
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.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.786C>G (p.Phe262Leu) rs372159380
NM_002485.5(NBN):c.787T>A (p.Phe263Ile) rs1554563966
NM_002485.5(NBN):c.794C>T (p.Ala265Val) rs61612852
NM_002485.5(NBN):c.796C>G (p.Pro266Ala) rs762956906
NM_002485.5(NBN):c.802A>G (p.Thr268Ala) rs2129829282
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.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.815A>T (p.Asp272Val)
NM_002485.5(NBN):c.817A>G (p.Thr273Ala)
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.81A>T (p.Gly27=) rs2129925626
NM_002485.5(NBN):c.821G>A (p.Gly274Glu)
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.832T>C (p.Ser278Pro) rs1225178489
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.847C>T (p.Pro283Ser) rs1811453358
NM_002485.5(NBN):c.848C>A (p.Pro283His) rs1554563853
NM_002485.5(NBN):c.851A>G (p.Asp284Gly) rs772176894
NM_002485.5(NBN):c.851A>T (p.Asp284Val)
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.857A>G (p.Gln286Arg) rs1586086458
NM_002485.5(NBN):c.862A>G (p.Lys288Glu)
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.872A>G (p.Gln291Arg) rs587778547
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>T (p.Ser292Leu) rs1811450946
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.889C>T (p.Leu297Phe)
NM_002485.5(NBN):c.890T>C (p.Leu297Pro) rs757787958
NM_002485.5(NBN):c.895A>C (p.Arg299=) rs1554563784
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>T rs1811448021
NM_002485.5(NBN):c.897-11_897-6del rs1586076334
NM_002485.5(NBN):c.897-3T>C rs2129787405
NM_002485.5(NBN):c.899A>G (p.Gln300Arg) rs758070132
NM_002485.5(NBN):c.900A>T (p.Gln300His) rs1811152792
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.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.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.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.923C>G (p.Ala308Gly) rs1554562176
NM_002485.5(NBN):c.923C>T (p.Ala308Val) rs1554562176
NM_002485.5(NBN):c.925G>A (p.Glu309Lys) rs587780101
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.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.938C>A (p.Ala313Glu)
NM_002485.5(NBN):c.941T>A (p.Val314Glu) rs771086262
NM_002485.5(NBN):c.943A>G (p.Ile315Val) rs878854517
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.955A>G (p.Thr319Ala) rs876659969
NM_002485.5(NBN):c.956C>T (p.Thr319Ile)
NM_002485.5(NBN):c.958A>G (p.Lys320Glu) rs1563548624
NM_002485.5(NBN):c.960G>T (p.Lys320Asn) rs1554562125
NM_002485.5(NBN):c.964T>G (p.Tyr322Asp) rs1554562123
NM_002485.5(NBN):c.967T>C (p.Cys323Arg)
NM_002485.5(NBN):c.968G>A (p.Cys323Tyr) rs730881848
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.976C>G (p.Gln326Glu) rs121908973
NM_002485.5(NBN):c.977A>G (p.Gln326Arg) rs876659586
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.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.993A>G (p.Thr331=) rs876659523
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.994G>A (p.Gly332Arg) rs1437392838
NM_002485.5(NBN):c.995-3C>T
NM_002485.5(NBN):c.995-6T>A rs1810859804
NM_002485.5(NBN):c.99T>G (p.Ile33Met) rs1172365532
NM_002485.5(NBN):c.9A>C (p.Lys3Asn)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.