ClinVar Miner

List of variants in gene NBN reported as uncertain significance for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1010
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
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.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.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
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.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) rs367760321 0.00007
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr) rs201781110 0.00007
NM_002485.5(NBN):c.227C>A (p.Thr76Asn) rs587781412 0.00007
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002485.5(NBN):c.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.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.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.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.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.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.104T>C (p.Ile35Thr) rs587780773 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.1961T>G (p.Leu654Arg) rs758728938 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.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.-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.1034G>T (p.Gly345Val) rs587780089 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.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.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.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.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.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.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.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.1648A>G (p.Lys550Glu) rs1468125809 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+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.1763A>G (p.Asn588Ser) rs876658681 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.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.2012A>G (p.Asn671Ser) rs1563513183 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.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.2185-12T>G rs373516568 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.296T>A (p.Phe99Tyr) rs1187898389 0.00001
NM_002485.5(NBN):c.297T>C (p.Phe99=) rs1563580668 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.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.37+3A>G rs764356392 0.00001
NM_002485.5(NBN):c.370G>A (p.Gly124Arg) rs1064794806 0.00001
NM_002485.5(NBN):c.38-5C>T rs775244752 0.00001
NM_002485.5(NBN):c.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.474C>T (p.Thr158=) rs1563578527 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.514G>A (p.Val172Ile) rs1586101456 0.00001
NM_002485.5(NBN):c.520C>A (p.Pro174Thr) rs587778546 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.585-5T>C rs1586088968 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.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.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.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.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.986C>T (p.Pro329Leu) rs1386471248 0.00001
NM_002485.5(NBN):c.994+5T>C rs778254433 0.00001
NM_002485.5(NBN):c.*2T>G rs762074357
NM_002485.5(NBN):c.-1G>A
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>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.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.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.102_104delinsAAC (p.Ile35Thr) rs1554569095
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.1057A>G (p.Met353Val) rs864622489
NM_002485.5(NBN):c.1058T>C (p.Met353Thr) rs1028462350
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.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.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.1096G>A (p.Asp366Asn) rs1554560367
NM_002485.5(NBN):c.10C>G (p.Leu4Val) rs1426394881
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.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+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.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.1147G>C (p.Glu383Gln) rs772909239
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.1168G>C (p.Glu390Gln)
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.1176A>T (p.Lys392Asn)
NM_002485.5(NBN):c.1180A>G (p.Arg394Gly) rs1060503470
NM_002485.5(NBN):c.1186C>A (p.Leu396Ile)
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.1195_1197delinsAAC (p.Asp399Asn) rs1586059342
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.1208T>C (p.Val403Ala) rs1554559273
NM_002485.5(NBN):c.1208T>G (p.Val403Gly)
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.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.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>T (p.Ser411Phe)
NM_002485.5(NBN):c.1235A>G (p.Asn412Ser)
NM_002485.5(NBN):c.1237A>G (p.Asn413Asp) rs1810664293
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.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.1255A>C (p.Asn419His) rs730881849
NM_002485.5(NBN):c.1255A>G (p.Asn419Asp) rs730881849
NM_002485.5(NBN):c.1265C>G (p.Ala422Gly) rs1810660625
NM_002485.5(NBN):c.1270A>G (p.Met424Val)
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.1288C>A (p.Gln430Lys)
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.1298C>A (p.Pro433Gln)
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.1310C>G (p.Pro437Arg)
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.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.1322A>C (p.Lys441Thr) rs1329281031
NM_002485.5(NBN):c.1324A>G (p.Ser442Gly) rs1554559097
NM_002485.5(NBN):c.1331A>C (p.Asp444Ala) rs1237800234
NM_002485.5(NBN):c.1335G>T (p.Arg445Ser) rs1554559085
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.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.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.1363A>T (p.Ile455Phe) rs1554559041
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.1370A>G (p.Asn457Ser) rs876659312
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.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.1397+4T>C rs770699381
NM_002485.5(NBN):c.1398G>T (p.Arg466Ser)
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.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.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.1425G>T (p.Met475Ile)
NM_002485.5(NBN):c.1427C>A (p.Ser476Tyr)
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.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.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.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.1456T>C (p.Ser486Pro) rs587781380
NM_002485.5(NBN):c.1457C>G (p.Ser486Cys) rs572568222
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.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.1483C>A (p.Pro495Thr)
NM_002485.5(NBN):c.1484C>G (p.Pro495Arg) rs863224714
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.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.1501T>A (p.Trp501Arg) rs1586054279
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.1516C>G (p.Gln506Glu) rs876658535
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.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.1531_1536del (p.Asn511_Glu512del)
NM_002485.5(NBN):c.1532A>C (p.Asn511Thr) rs2129701658
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.1546A>G (p.Thr516Ala) rs376653589
NM_002485.5(NBN):c.1561A>T (p.Asn521Tyr)
NM_002485.5(NBN):c.1571C>T (p.Thr524Ile) rs2129700864
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.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.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.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.1625C>T (p.Ala542Val) rs760911186
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.1645A>G (p.Lys549Glu) rs1810540992
NM_002485.5(NBN):c.1647A>T (p.Lys549Asn)
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
NM_002485.5(NBN):c.1652G>T (p.Arg551Met) rs1586053587
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln) rs1064793213
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.1672A>C (p.Ile558Leu) rs876659451
NM_002485.5(NBN):c.1672A>G (p.Ile558Val) rs876659451
NM_002485.5(NBN):c.168C>G (p.Asn56Lys)
NM_002485.5(NBN):c.1691A>G (p.Glu564Gly) rs1554558323
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.1708A>G (p.Thr570Ala) rs730881854
NM_002485.5(NBN):c.171+2T>C
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.171G>T (p.Leu57=) rs1554569001
NM_002485.5(NBN):c.172-28G>T
NM_002485.5(NBN):c.1720T>G (p.Leu574Val) rs142334798
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.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.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.1762A>C (p.Asn588His) rs1810527107
NM_002485.5(NBN):c.176A>G (p.Gln59Arg)
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.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.1805C>T (p.Thr602Ile) rs1563524801
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.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.1838A>G (p.Lys613Arg)
NM_002485.5(NBN):c.1842A>G (p.Ile614Met) rs770345026
NM_002485.5(NBN):c.1845+2dup rs1586052628
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.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.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.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.196T>G (p.Leu66Val) rs1554568371
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.1984C>G (p.Leu662Val) rs1586040566
NM_002485.5(NBN):c.1985T>G (p.Leu662Arg) rs1810183362
NM_002485.5(NBN):c.1987G>T (p.Val663Leu) rs1554556547
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.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.2018C>G (p.Ser673Cys) rs1810179050
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.2027A>G (p.Asn676Ser) rs1404296922
NM_002485.5(NBN):c.2029GAT[1] (p.Asp678del) rs1554556498
NM_002485.5(NBN):c.2039G>T (p.Gly680Val) rs1425101720
NM_002485.5(NBN):c.2045T>C (p.Leu682Pro)
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.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.2068A>C (p.Lys690Gln) rs587780092
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.2071-4A>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.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.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.2101C>T (p.His701Tyr) rs587781567
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.210T>G (p.Asp70Glu) rs1554568357
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.2120_2128del (p.Asp707_Ile709del) rs1563508381
NM_002485.5(NBN):c.2125A>C (p.Ile709Leu)
NM_002485.5(NBN):c.2125_2127delinsCTG (p.Ile709Leu) rs1586035313
NM_002485.5(NBN):c.2127A>G (p.Ile709Met)
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.2137G>A (p.Ala713Thr) rs1554555795
NM_002485.5(NBN):c.2138C>G (p.Ala713Gly) rs986903713
NM_002485.5(NBN):c.2143A>G (p.Lys715Glu)
NM_002485.5(NBN):c.2144A>G (p.Lys715Arg)
NM_002485.5(NBN):c.2150C>G (p.Thr717Arg)
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
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.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.2170A>G (p.Arg724Gly) rs1586035037
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+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.2185-2del
NM_002485.5(NBN):c.2185-5G>A
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.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.2213C>T (p.Ser738Phe) rs876659097
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.2227_2228del (p.Leu743fs) rs876659551
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.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>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.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.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.265C>G (p.Arg89Gly) rs1057516320
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.268A>G (p.Thr90Ala) rs1554568315
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.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.292A>C (p.Thr98Pro) rs1060503453
NM_002485.5(NBN):c.293C>T (p.Thr98Ile)
NM_002485.5(NBN):c.304T>C (p.Phe102Leu) rs1554568285
NM_002485.5(NBN):c.305T>G (p.Phe102Cys)
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.317T>A (p.Phe106Tyr)
NM_002485.5(NBN):c.320+5G>T rs1563580422
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.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.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.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.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.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.367T>G (p.Ser123Ala) rs786203615
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.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.38-3C>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.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.392C>G (p.Ala131Gly) rs1469136096
NM_002485.5(NBN):c.396A>G (p.Ile132Met) rs1060503462
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.406G>A (p.Gly136Arg) rs1554567936
NM_002485.5(NBN):c.40G>A (p.Glu14Lys) rs745439506
NM_002485.5(NBN):c.413T>A (p.Phe138Tyr)
NM_002485.5(NBN):c.415A>C (p.Thr139Pro) rs543852763
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.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.447C>A (p.His149Gln) 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.454A>G (p.Met152Val) rs1554567872
NM_002485.5(NBN):c.458T>C (p.Val153Ala) rs1554567865
NM_002485.5(NBN):c.461C>T (p.Ser154Leu) rs1586106651
NM_002485.5(NBN):c.465G>A (p.Val155=)
NM_002485.5(NBN):c.466A>C (p.Lys156Gln) rs1586106635
NM_002485.5(NBN):c.469G>A (p.Val157Ile) rs1060503486
NM_002485.5(NBN):c.473C>A (p.Thr158Asn) rs1271849120
NM_002485.5(NBN):c.473C>T (p.Thr158Ile)
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+5G>T
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.491C>T (p.Ala164Val)
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.503G>C (p.Gly168Ala)
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.525A>C (p.Glu175Asp)
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>T (p.Glu179Asp) rs1554566673
NM_002485.5(NBN):c.540C>A (p.Phe180Leu)
NM_002485.5(NBN):c.545A>G (p.Lys182Arg)
NM_002485.5(NBN):c.548C>A (p.Ala183Glu)
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.556T>A (p.Ser186Thr) rs1586101246
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>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.584+3dup rs1554566607
NM_002485.5(NBN):c.584+4T>C
NM_002485.5(NBN):c.585-3C>T rs779430868
NM_002485.5(NBN):c.585-5T>A rs1586088968
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>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.611C>G (p.Ser204Cys) rs876659478
NM_002485.5(NBN):c.614T>C (p.Ile205Thr) rs786203215
NM_002485.5(NBN):c.61G>A (p.Gly21Ser) rs1586112049
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.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.640G>C (p.Gly214Arg) rs1554564269
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.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.673A>G (p.Lys225Glu) rs2129837868
NM_002485.5(NBN):c.677C>T (p.Thr226Ile) rs1554564219
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>G (p.Asn231Lys)
NM_002485.5(NBN):c.694G>A (p.Ala232Thr) rs878854515
NM_002485.5(NBN):c.6G>C (p.Trp2Cys)
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.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.73G>T (p.Val25Phe) rs587781748
NM_002485.5(NBN):c.746C>A (p.Ala249Asp) rs2129830699
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.764A>G (p.Glu255Gly)
NM_002485.5(NBN):c.767A>G (p.Asn256Ser) rs1554563994
NM_002485.5(NBN):c.76G>T (p.Val26Phe) rs752964949
NM_002485.5(NBN):c.771A>C (p.Glu257Asp)
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.787T>A (p.Phe263Ile) rs1554563966
NM_002485.5(NBN):c.793G>T (p.Ala265Ser) rs876658382
NM_002485.5(NBN):c.796C>G (p.Pro266Ala) rs762956906
NM_002485.5(NBN):c.797C>G (p.Pro266Arg)
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>T (p.Thr268=) rs141443872
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.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.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.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.851A>G (p.Asp284Gly) rs772176894
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.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.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.880A>T (p.Met294Leu) rs746381477
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.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.897-3T>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.901G>C (p.Gly301Arg) rs1280333137
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.917C>T (p.Pro306Leu) rs1563548981
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.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.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.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.955A>G (p.Thr319Ala) rs876659969
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>G (p.Cys323Trp)
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.976C>G (p.Gln326Glu) rs121908973
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.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.995-3C>T
NM_002485.5(NBN):c.99T>G (p.Ile33Met) rs1172365532

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.