ClinVar Miner

List of variants in gene NBN reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 588
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.320+208G>A rs1805796 0.52449
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_002485.5(NBN):c.480+292C>G rs1805841 0.50930
NM_002485.5(NBN):c.2071-30A>T rs3736639 0.32860
NM_002485.5(NBN):c.2184+123G>A rs7840099 0.32815
NM_002485.5(NBN):c.172-132G>A rs1805797 0.32798
NM_002485.5(NBN):c.38-283G>A rs2073635 0.32794
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_002485.5(NBN):c.1125-79C>A rs1805786 0.32531
NM_002485.5(NBN):c.994+233G>A rs6990969 0.32471
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_002485.5(NBN):c.*273G>A rs1063053 0.30308
NM_002485.5(NBN):c.2184+311C>G rs6470523 0.30130
NM_002485.5(NBN):c.1124+18C>T rs2234744 0.30095
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_002485.5(NBN):c.2184+228A>C rs6470524 0.29761
NM_002485.5(NBN):c.1124+310G>A rs7818989 0.07339
NM_002485.5(NBN):c.2235-172C>T rs13312973 0.07093
NM_002485.5(NBN):c.1125-258T>C rs1805815 0.06944
NM_002485.5(NBN):c.2234+88C>G rs13312970 0.05951
NM_002485.5(NBN):c.896+167G>A rs138144058 0.04955
NM_002485.5(NBN):c.702+149T>C rs3026271 0.04335
NM_002485.5(NBN):c.897-171C>T rs1805824 0.04063
NM_002485.5(NBN):c.2071-61A>T rs3736640 0.03996
NM_002485.5(NBN):c.584+327G>A rs1805834 0.03987
NM_002485.5(NBN):c.896+36G>A rs1805826 0.03920
NM_002485.5(NBN):c.2234+157A>G rs13312971 0.03911
NM_002485.5(NBN):c.703-18G>A rs769418 0.03898
NM_002485.5(NBN):c.2185-122T>C rs13312969 0.03598
NM_002485.5(NBN):c.1397+304C>T rs13312925 0.03039
NM_002485.5(NBN):c.1397+157C>G rs1805814 0.03035
NM_002485.5(NBN):c.702+150G>T rs1805827 0.03032
NM_002485.5(NBN):c.585-81G>A rs1805828 0.03022
NM_002485.5(NBN):c.172-66A>C rs2308961 0.02451
NM_002485.5(NBN):c.321-29G>A rs769417 0.02451
NM_002485.5(NBN):c.320+200C>A rs55978729 0.02447
NM_002485.5(NBN):c.171+133A>G rs13312854 0.02425
NM_002485.5(NBN):c.1125-86G>A rs13312922 0.02417
NM_002485.5(NBN):c.897-64A>G rs13312891 0.02360
NM_002485.5(NBN):c.38-308A>G rs13312853 0.02217
NM_002485.5(NBN):c.321-89T>A rs1805843 0.02213
NM_002485.5(NBN):c.321-224T>C rs73696850 0.02097
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_002485.5(NBN):c.37+237C>T rs1805845 0.01932
NM_002485.5(NBN):c.1124+276T>A rs13312904 0.01422
NM_002485.5(NBN):c.896+27A>C rs114182293 0.01419
NM_002485.5(NBN):c.703-29C>T rs104895034 0.01266
NM_002485.5(NBN):c.2070+33T>C rs4987078 0.01200
NM_002485.5(NBN):c.1124+19C>T rs13312903 0.00965
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_002485.5(NBN):c.481-302A>G rs150163091 0.00851
NM_002485.5(NBN):c.2184+304G>A rs13312952 0.00833
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_002485.5(NBN):c.37+30A>G rs1805846 0.00808
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_002485.5(NBN):c.2070+212T>A rs13312946 0.00759
NM_002485.5(NBN):c.897-42G>C rs141172426 0.00725
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_002485.5(NBN):c.1398-203G>A rs139084367 0.00586
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NC_000008.11:g.89984953T>A rs1805847 0.00539
NM_002485.5(NBN):c.38-287A>G rs75111709 0.00539
NM_002485.5(NBN):c.1398-112C>T rs75602753 0.00536
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_002485.5(NBN):c.1398-19C>T rs201495716 0.00157
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_002485.5(NBN):c.441C>T (p.Cys147=) rs137857529 0.00062
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_002485.5(NBN):c.896+4T>C rs190843577 0.00054
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_002485.5(NBN):c.939G>A (p.Ala313=) rs145750430 0.00025
NM_002485.5(NBN):c.786C>A (p.Phe262Leu) rs372159380 0.00021
NM_002485.5(NBN):c.2220T>C (p.Ala740=) rs147494981 0.00019
NM_002485.5(NBN):c.37+6G>A rs540868733 0.00019
NM_002485.5(NBN):c.804G>A (p.Thr268=) rs141443872 0.00019
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_002485.5(NBN):c.2202A>G (p.Ala734=) rs200452212 0.00016
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_002485.5(NBN):c.1020A>G (p.Pro340=) rs864622077 0.00014
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro) rs747315554 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.279G>A (p.Ser93=) rs587780781 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_002485.5(NBN):c.1986G>A (p.Leu662=) rs571803328 0.00009
NM_002485.5(NBN):c.426T>C (p.Asn142=) rs143070291 0.00009
NM_002485.5(NBN):c.38-19A>T rs766849651 0.00008
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) rs367760321 0.00007
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr) rs201781110 0.00007
NM_002485.5(NBN):c.227C>A (p.Thr76Asn) rs587781412 0.00007
NM_002485.5(NBN):c.-12G>A rs375584006 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002485.5(NBN):c.1306T>C (p.Leu436=) rs375885975 0.00006
NM_002485.5(NBN):c.1398-10T>A rs539960851 0.00006
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) rs587781881 0.00006
NM_002485.5(NBN):c.819A>T (p.Thr273=) rs147660518 0.00006
NM_002485.5(NBN):c.930T>A (p.Ile310=) rs142813526 0.00006
NM_002485.5(NBN):c.1454C>T (p.Thr485Met) rs200891292 0.00005
NM_002485.5(NBN):c.2070+13A>G rs558868023 0.00005
NM_002485.5(NBN):c.52C>A (p.Leu18Ile) rs587781939 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_002485.5(NBN):c.-10A>T rs759094270 0.00004
NM_002485.5(NBN):c.-45G>A rs766132288 0.00004
NM_002485.5(NBN):c.1083A>G (p.Thr361=) rs761042468 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002485.5(NBN):c.1124+20G>A rs201436502 0.00004
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys) rs544909538 0.00004
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002485.5(NBN):c.481-18A>G rs587781092 0.00004
NM_002485.5(NBN):c.506G>A (p.Arg169His) rs776134250 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.633T>A (p.Asp211Glu) rs377700348 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002485.5(NBN):c.702+16G>C rs2272581 0.00004
NM_002485.5(NBN):c.720C>T (p.Ser240=) rs781323381 0.00004
NM_002485.5(NBN):c.721G>A (p.Ala241Thr) rs587781333 0.00004
NM_002485.5(NBN):c.73G>A (p.Val25Ile) rs587781748 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_002485.5(NBN):c.1419A>G (p.Gln473=) rs587780535 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002485.5(NBN):c.2235-18C>T rs138106214 0.00003
NM_002485.5(NBN):c.284A>G (p.Asp95Gly) rs545276922 0.00003
NM_002485.5(NBN):c.302T>C (p.Val101Ala) rs185493105 0.00003
NM_002485.5(NBN):c.547G>A (p.Ala183Thr) rs151070415 0.00003
NM_002485.5(NBN):c.613A>G (p.Ile205Val) rs730881845 0.00003
NM_002485.5(NBN):c.702+9G>A rs748373099 0.00003
NM_002485.5(NBN):c.750G>T (p.Arg250Ser) rs758852942 0.00003
NM_002485.5(NBN):c.80G>T (p.Gly27Val) rs755171159 0.00003
NM_002485.5(NBN):c.896+13T>G rs376695206 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_002485.5(NBN):c.935T>C (p.Leu312Ser) rs371480039 0.00003
NM_002485.5(NBN):c.936G>A (p.Leu312=) rs148517156 0.00003
NM_002485.5(NBN):c.994+20A>G rs756077531 0.00003
NM_002485.5(NBN):c.995-12T>C rs1057521081 0.00003
NM_002485.5(NBN):c.-16C>T rs751492107 0.00002
NM_002485.5(NBN):c.-21C>T rs746164250 0.00002
NM_002485.5(NBN):c.-36G>A rs762098812 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.1124+37C>G rs577575764 0.00002
NM_002485.5(NBN):c.1125-3C>T rs587781326 0.00002
NM_002485.5(NBN):c.120G>T (p.Ser40=) rs774989816 0.00002
NM_002485.5(NBN):c.1434C>T (p.Cys478=) rs1060503473 0.00002
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu) rs863224714 0.00002
NM_002485.5(NBN):c.1667T>A (p.Val556Glu) rs558023830 0.00002
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu) rs587780090 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.2070+4G>A rs876660950 0.00002
NM_002485.5(NBN):c.2139T>C (p.Ala713=) rs755274971 0.00002
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln) rs753270166 0.00002
NM_002485.5(NBN):c.2184+8G>C rs730881842 0.00002
NM_002485.5(NBN):c.2190A>G (p.Gln730=) rs786203112 0.00002
NM_002485.5(NBN):c.24G>A (p.Ala8=) rs779543740 0.00002
NM_002485.5(NBN):c.254A>G (p.Asn85Ser) rs587780095 0.00002
NM_002485.5(NBN):c.301G>A (p.Val101Met) rs786202139 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002485.5(NBN):c.38-20T>A rs774709748 0.00002
NM_002485.5(NBN):c.663C>T (p.Ile221=) rs372705975 0.00002
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) rs201559159 0.00002
NM_002485.5(NBN):c.940G>A (p.Val314Met) rs529845940 0.00002
NM_002485.5(NBN):c.949A>G (p.Met317Val) rs587782502 0.00002
NM_002485.5(NBN):c.966C>T (p.Tyr322=) rs748453607 0.00002
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_002485.5(NBN):c.-15T>A rs376360566 0.00001
NM_002485.5(NBN):c.-31A>T rs776530327 0.00001
NM_002485.5(NBN):c.-39G>A rs1248181473 0.00001
NM_002485.5(NBN):c.-47C>G rs1057524568 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.1034G>T (p.Gly345Val) rs587780089 0.00001
NM_002485.5(NBN):c.1056A>G (p.Leu352=) rs369092711 0.00001
NM_002485.5(NBN):c.1063A>G (p.Ser355Gly) rs762376159 0.00001
NM_002485.5(NBN):c.1076A>G (p.Asn359Ser) rs768886664 0.00001
NM_002485.5(NBN):c.1091T>C (p.Val364Ala) rs370229163 0.00001
NM_002485.5(NBN):c.1122A>G (p.Thr374=) rs876660925 0.00001
NM_002485.5(NBN):c.1124+9T>G rs864622466 0.00001
NM_002485.5(NBN):c.1125-11T>G rs1373365760 0.00001
NM_002485.5(NBN):c.1147G>A (p.Glu383Lys) rs772909239 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.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser) rs529340553 0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs) rs587781891 0.00001
NM_002485.5(NBN):c.1248G>T (p.Met416Ile) rs756572268 0.00001
NM_002485.5(NBN):c.1281A>G (p.Pro427=) rs1554559167 0.00001
NM_002485.5(NBN):c.1299A>G (p.Pro433=) rs1161505808 0.00001
NM_002485.5(NBN):c.1351C>G (p.Gln451Glu) rs1011573169 0.00001
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr) rs587780774 0.00001
NM_002485.5(NBN):c.1383G>A (p.Pro461=) rs886063169 0.00001
NM_002485.5(NBN):c.1398-17T>G rs561077201 0.00001
NM_002485.5(NBN):c.1398-9A>T rs773093849 0.00001
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser) rs730881851 0.00001
NM_002485.5(NBN):c.1415A>G (p.Asn472Ser) rs750711786 0.00001
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys) rs776900339 0.00001
NM_002485.5(NBN):c.153C>A (p.Asn51Lys) rs876661214 0.00001
NM_002485.5(NBN):c.1549A>G (p.Asn517Asp) rs1040315184 0.00001
NM_002485.5(NBN):c.1559A>G (p.Asn520Ser) rs750981708 0.00001
NM_002485.5(NBN):c.1563C>T (p.Asn521=) rs765959451 0.00001
NM_002485.5(NBN):c.1619A>G (p.His540Arg) rs730881852 0.00001
NM_002485.5(NBN):c.1657A>G (p.Met553Val) rs746347634 0.00001
NM_002485.5(NBN):c.1659G>A (p.Met553Ile) rs876659960 0.00001
NM_002485.5(NBN):c.1671C>A (p.Ala557=) rs1057521670 0.00001
NM_002485.5(NBN):c.1684G>A (p.Val562Ile) rs754651655 0.00001
NM_002485.5(NBN):c.1703A>G (p.Lys568Arg) rs1488036998 0.00001
NM_002485.5(NBN):c.171+12A>G rs922134221 0.00001
NM_002485.5(NBN):c.171+14T>C rs1432243629 0.00001
NM_002485.5(NBN):c.171+4T>C rs587782290 0.00001
NM_002485.5(NBN):c.1716dup (p.Glu573fs) rs1060503483 0.00001
NM_002485.5(NBN):c.172-3C>T rs587781620 0.00001
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) rs763926389 0.00001
NM_002485.5(NBN):c.1761C>T (p.Val587=) rs769773789 0.00001
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser) rs876658681 0.00001
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro) rs746632073 0.00001
NM_002485.5(NBN):c.1915-8C>T rs368132097 0.00001
NM_002485.5(NBN):c.1919A>G (p.Asn640Ser) rs748073091 0.00001
NM_002485.5(NBN):c.1932G>A (p.Gln644=) rs754783870 0.00001
NM_002485.5(NBN):c.1973A>G (p.Glu658Gly) rs587782155 0.00001
NM_002485.5(NBN):c.1989G>A (p.Val663=) rs757753217 0.00001
NM_002485.5(NBN):c.2037T>C (p.Tyr679=) rs864622555 0.00001
NM_002485.5(NBN):c.2070+15T>G rs764467759 0.00001
NM_002485.5(NBN):c.2070+7A>G rs757339440 0.00001
NM_002485.5(NBN):c.2071-4A>G rs746994234 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2134C>A (p.His712Asn) rs781520763 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) rs587780093 0.00001
NM_002485.5(NBN):c.2151A>G (p.Thr717=) rs760687282 0.00001
NM_002485.5(NBN):c.2165G>C (p.Trp722Ser) rs786204181 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.2185-15T>C rs1259580674 0.00001
NM_002485.5(NBN):c.2196A>G (p.Gln732=) rs587780780 0.00001
NM_002485.5(NBN):c.2234+2T>G rs142301194 0.00001
NM_002485.5(NBN):c.2235-19C>T rs1057524430 0.00001
NM_002485.5(NBN):c.2235-8C>T rs369037495 0.00001
NM_002485.5(NBN):c.2247T>C (p.Tyr749=) rs762740478 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 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.323T>C (p.Ile108Thr) rs775217949 0.00001
NM_002485.5(NBN):c.332A>G (p.Glu111Gly) rs876659320 0.00001
NM_002485.5(NBN):c.333G>A (p.Glu111=) rs376455714 0.00001
NM_002485.5(NBN):c.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.38-5C>T rs775244752 0.00001
NM_002485.5(NBN):c.38-7A>G rs863224392 0.00001
NM_002485.5(NBN):c.38-8T>C rs62531987 0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) rs543852763 0.00001
NM_002485.5(NBN):c.420A>G (p.Val140=) rs767296279 0.00001
NM_002485.5(NBN):c.448C>T (p.Leu150Phe) rs773119929 0.00001
NM_002485.5(NBN):c.45A>G (p.Pro15=) rs577332041 0.00001
NM_002485.5(NBN):c.468A>C (p.Lys156Asn) rs730881858 0.00001
NM_002485.5(NBN):c.481-18_481-17del rs778286254 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.483A>G (p.Thr161=) rs758276775 0.00001
NM_002485.5(NBN):c.493C>A (p.Leu165Ile) rs776810966 0.00001
NM_002485.5(NBN):c.525A>G (p.Glu175=) rs769400631 0.00001
NM_002485.5(NBN):c.584+3A>G rs587782407 0.00001
NM_002485.5(NBN):c.584+9T>C rs746913991 0.00001
NM_002485.5(NBN):c.585-15T>C rs746465355 0.00001
NM_002485.5(NBN):c.588T>C (p.Phe196=) rs745821999 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.601G>A (p.Asp201Asn) rs757186245 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002485.5(NBN):c.620G>T (p.Ser207Ile) rs587780099 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 0.00001
NM_002485.5(NBN):c.649G>C (p.Glu217Gln) rs760275251 0.00001
NM_002485.5(NBN):c.658C>G (p.Gln220Glu) rs876659811 0.00001
NM_002485.5(NBN):c.660A>G (p.Gln220=) rs876658674 0.00001
NM_002485.5(NBN):c.666C>T (p.Phe222=) rs876661098 0.00001
NM_002485.5(NBN):c.692A>G (p.Asn231Ser) rs1309274168 0.00001
NM_002485.5(NBN):c.696C>T (p.Ala232=) rs566091759 0.00001
NM_002485.5(NBN):c.703-14C>T rs1411178267 0.00001
NM_002485.5(NBN):c.703-17T>C rs1057523604 0.00001
NM_002485.5(NBN):c.72C>T (p.Tyr24=) rs1001590969 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.798G>A (p.Pro266=) rs368786672 0.00001
NM_002485.5(NBN):c.815A>G (p.Asp272Gly) rs730881847 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.938C>T (p.Ala313Val) rs730881862 0.00001
NC_000008.11:g.89984913_89984916del rs36226237
NM_002485.4:c.703-20insA
NM_002485.5(NBN):c.*2_*3del rs1064795633
NM_002485.5(NBN):c.*316A>G rs13312976
NM_002485.5(NBN):c.-2C>A rs202104448
NM_002485.5(NBN):c.-37G>A rs543890002
NM_002485.5(NBN):c.-37G>C rs543890002
NM_002485.5(NBN):c.-38C>G rs1057522006
NM_002485.5(NBN):c.-40C>T rs730881843
NM_002485.5(NBN):c.-46C>G rs751549166
NM_002485.5(NBN):c.-48C>G rs202115031
NM_002485.5(NBN):c.-49C>T rs919235957
NM_002485.5(NBN):c.1000A>G (p.Lys334Glu) rs2129747101
NM_002485.5(NBN):c.1005AAC[3] (p.Thr337dup) rs770500095
NM_002485.5(NBN):c.1008A>T (p.Thr336=) rs786201619
NM_002485.5(NBN):c.105T>A (p.Ile35=) rs78870221
NM_002485.5(NBN):c.105T>G (p.Ile35Met) rs78870221
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser) rs1064794336
NM_002485.5(NBN):c.1079C>G (p.Thr360Ser) rs879020505
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1095T>C (p.Ala365=) rs1554560368
NM_002485.5(NBN):c.1107A>G (p.Ser369=) rs1586065630
NM_002485.5(NBN):c.1113A>T (p.Gln371His) rs1810848534
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile) rs1174990974
NM_002485.5(NBN):c.1124+11_1124+13del rs747584990
NM_002485.5(NBN):c.1124+12T>C rs1057521099
NM_002485.5(NBN):c.1124+5A>T rs587782108
NM_002485.5(NBN):c.1124+91C>A rs1805818
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.116A>G (p.Gln39Arg)
NM_002485.5(NBN):c.1170A>G (p.Glu390=) rs1554559326
NM_002485.5(NBN):c.117G>A (p.Gln39=) rs1057524429
NM_002485.5(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr)
NM_002485.5(NBN):c.11T>C (p.Leu4Pro) 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.1207G>A (p.Val403Ile)
NM_002485.5(NBN):c.120G>A (p.Ser40=) rs774989816
NM_002485.5(NBN):c.1228A>C (p.Ser410Arg) rs1185542329
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.5(NBN):c.1245T>C (p.Ser415=) rs776180689
NM_002485.5(NBN):c.1255A>G (p.Asn419Asp) rs730881849
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1260T>A (p.Thr420=) rs1554559199
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys) rs1060503478
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile) rs757452107
NM_002485.5(NBN):c.1303A>G (p.Lys435Glu) rs749512960
NM_002485.5(NBN):c.1314T>C (p.Ser438=) rs1057521491
NM_002485.5(NBN):c.1336G>A (p.Ala446Thr) rs1586058411
NM_002485.5(NBN):c.1338T>C (p.Ala446=) rs1373132755
NM_002485.5(NBN):c.1352_1353delinsCC (p.Gln451Pro) rs1554559065
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser) rs876659312
NM_002485.5(NBN):c.1397+12A>T rs1057521287
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.1397+2T>A rs730881850
NM_002485.5(NBN):c.1397+33dup rs13312923
NM_002485.5(NBN):c.1397+42_1397+43insA rs2129715697
NM_002485.5(NBN):c.1397+46del rs13312924
NM_002485.5(NBN):c.1397+4T>C rs770699381
NM_002485.5(NBN):c.1398-10dup rs587780555
NM_002485.5(NBN):c.1410A>G (p.Glu470=) rs1554558592
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys) rs755805461
NM_002485.5(NBN):c.141_142del (p.Leu48fs) rs750375741
NM_002485.5(NBN):c.1427C>G (p.Ser476Cys) rs2129703826
NM_002485.5(NBN):c.1443A>G (p.Ala481=) rs751121403
NM_002485.5(NBN):c.1448T>C (p.Ile483Thr) rs876658347
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro) rs587781380
NM_002485.5(NBN):c.145A>C (p.Thr49Pro) rs1064794807
NM_002485.5(NBN):c.1466_1492del (p.Leu489_Thr497del)
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1486G>A (p.Ala496Thr) rs730881863
NM_002485.5(NBN):c.1492C>A (p.Pro498Thr) rs915825113
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro) rs1554558483
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.5(NBN):c.1509T>C (p.Asn503=) rs876660751
NM_002485.5(NBN):c.1509T>G (p.Asn503Lys) rs876660751
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp) rs1283330641
NM_002485.5(NBN):c.153_155delinsGTG (p.Asn51_Phe52delinsLysCys) rs1064794651
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1587A>G (p.Lys529=) rs1057521983
NM_002485.5(NBN):c.158C>G (p.Ser53Cys) rs876660243
NM_002485.5(NBN):c.1594G>A (p.Val532Met) rs545435120
NM_002485.5(NBN):c.1598A>G (p.Lys533Arg)
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1649A>G (p.Lys550Arg) rs2129699455
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln) rs1064793213
NM_002485.5(NBN):c.1660G>C (p.Asp554His) rs1554558349
NM_002485.5(NBN):c.1661A>T (p.Asp554Val)
NM_002485.5(NBN):c.1675G>A (p.Glu559Lys) rs2129698794
NM_002485.5(NBN):c.169C>G (p.Leu57Val)
NM_002485.5(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.5(NBN):c.1701C>G (p.Phe567Leu) rs730881853
NM_002485.5(NBN):c.1707C>T (p.Asp569=) rs1057522522
NM_002485.5(NBN):c.1708A>G (p.Thr570Ala) rs730881854
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.171+9C>T rs1057522123
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.172-303_172-302del rs13312857
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.175C>G (p.Gln59Glu) rs1554568427
NM_002485.5(NBN):c.1783A>G (p.Met595Val) rs2129696684
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly) rs1005715125
NM_002485.5(NBN):c.1789A>T (p.Ile597Leu) rs864622167
NM_002485.5(NBN):c.1791A>G (p.Ile597Met) rs1810523727
NM_002485.5(NBN):c.1808T>C (p.Phe603Ser) rs1810522468
NM_002485.5(NBN):c.1833T>C (p.Ser611=) rs1554558203
NM_002485.5(NBN):c.1842A>G (p.Ile614Met) rs770345026
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.1915-6T>C rs1586040852
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.1941T>A (p.Ser647Arg) rs1477953712
NM_002485.5(NBN):c.1952C>G (p.Pro651Arg) rs1554556572
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.1998C>T (p.Asn666=) rs1057523508
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln) rs587780092
NM_002485.5(NBN):c.2070+18A>G rs756636190
NM_002485.5(NBN):c.2070+1G>T rs1554556454
NM_002485.5(NBN):c.2071-1G>A rs786201965
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.2074A>G (p.Thr692Ala)
NM_002485.5(NBN):c.2075C>T (p.Thr692Ile) rs1060503474
NM_002485.5(NBN):c.2083G>A (p.Gly695Arg) rs1554555835
NM_002485.5(NBN):c.2102A>G (p.His701Arg) rs2130755980
NM_002485.5(NBN):c.2108_2109dup (p.Gly704fs) rs876661189
NM_002485.5(NBN):c.2122C>T (p.Leu708=) rs756580887
NM_002485.5(NBN):c.212_215del (p.Asn71fs) rs1064795634
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.5(NBN):c.2149A>G (p.Thr717Ala) rs587780093
NM_002485.5(NBN):c.2155_2157dup (p.Leu719dup) rs864622241
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.5(NBN):c.2172G>A (p.Arg724=) rs1057523944
NM_002485.5(NBN):c.2183A>G (p.Glu728Gly) rs1060503487
NM_002485.5(NBN):c.2184+200_2184+201dup rs10631091
NM_002485.5(NBN):c.2184+200dup rs10631091
NM_002485.5(NBN):c.2184+209_2184+214del rs10631091
NM_002485.5(NBN):c.2184+214del rs10631091
NM_002485.5(NBN):c.2187A>G (p.Val729=) rs1057523526
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.21C>G (p.Ala7=) rs370050587
NM_002485.5(NBN):c.21C>T (p.Ala7=) rs370050587
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.2210_2211del (p.Glu737fs) rs774508816
NM_002485.5(NBN):c.2217T>C (p.Leu739=) rs760207156
NM_002485.5(NBN):c.2234+12T>C rs1057523867
NM_002485.5(NBN):c.2234+14C>T rs763071338
NM_002485.5(NBN):c.2234+17C>T rs1057524773
NM_002485.5(NBN):c.2235-220_2235-218del rs527762933
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.224del (p.Gly75fs) rs1554568344
NM_002485.5(NBN):c.2260A>C (p.Arg754=) rs2130735641
NM_002485.5(NBN):c.227C>T (p.Thr76Ile) rs587781412
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.241G>A (p.Glu81Lys) rs1064795037
NM_002485.5(NBN):c.247A>T (p.Met83Leu) rs955258267
NM_002485.5(NBN):c.249G>A (p.Met83Ile) rs1438838735
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.27C>T (p.Gly9=) rs1554569662
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.2T>C (p.Met1Thr) rs746422391
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.320+8A>G rs1057523296
NM_002485.5(NBN):c.325G>C (p.Glu109Gln) rs587780096
NM_002485.5(NBN):c.325G>T (p.Glu109Ter) rs587780096
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.340G>T (p.Val114Phe) rs771034958
NM_002485.5(NBN):c.348C>T (p.Cys116=) rs1057520332
NM_002485.5(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) rs730881841
NM_002485.5(NBN):c.35G>C (p.Gly12Ala) rs730881860
NM_002485.5(NBN):c.37+12A>C rs771196279
NM_002485.5(NBN):c.37+6G>C rs540868733
NM_002485.5(NBN):c.37+8C>T rs1554569655
NM_002485.5(NBN):c.375A>G (p.Lys125=) rs1554567977
NM_002485.5(NBN):c.376A>T (p.Thr126Ser) rs1484120047
NM_002485.5(NBN):c.38-11A>T rs770165601
NM_002485.5(NBN):c.38-11del rs752004731
NM_002485.5(NBN):c.38-11dup rs752004731
NM_002485.5(NBN):c.38-20dup rs757737980
NM_002485.5(NBN):c.38-3C>G rs876661099
NM_002485.5(NBN):c.393T>G (p.Ala131=) rs372061224
NM_002485.5(NBN):c.397T>C (p.Leu133=) rs1229464840
NM_002485.5(NBN):c.40G>A (p.Glu14Lys) rs745439506
NM_002485.5(NBN):c.428G>A (p.Trp143Ter) rs2129908974
NM_002485.5(NBN):c.436G>C (p.Glu146Gln) rs1812023357
NM_002485.5(NBN):c.442A>T (p.Thr148Ser) rs1060503479
NM_002485.5(NBN):c.453C>T (p.Val151=) rs1176879721
NM_002485.5(NBN):c.459A>G (p.Val153=) rs566630862
NM_002485.5(NBN):c.477dup (p.Lys160Ter) rs1554567847
NM_002485.5(NBN):c.480+3A>G rs756817252
NM_002485.5(NBN):c.481-2A>G rs751567476
NM_002485.5(NBN):c.481-5T>C rs2129890359
NM_002485.5(NBN):c.504A>C (p.Gly168=) rs1057521464
NM_002485.5(NBN):c.519G>C (p.Lys173Asn)
NM_002485.5(NBN):c.523G>A (p.Glu175Lys) rs730881861
NM_002485.5(NBN):c.530T>C (p.Phe177Ser) rs1064796090
NM_002485.5(NBN):c.536A>T (p.Glu179Val) rs864622578
NM_002485.5(NBN):c.544A>G (p.Lys182Glu) rs1064793211
NM_002485.5(NBN):c.55_56del (p.Leu19fs) rs876659305
NM_002485.5(NBN):c.572C>T (p.Pro191Leu) rs876661071
NM_002485.5(NBN):c.580G>T (p.Glu194Ter) rs1554566610
NM_002485.5(NBN):c.584+6T>C rs1554566602
NM_002485.5(NBN):c.584+7T>A rs1057523869
NM_002485.5(NBN):c.584+9T>A rs746913991
NM_002485.5(NBN):c.585-1G>A rs1394578008
NM_002485.5(NBN):c.585-1_585delinsC rs786203662
NM_002485.5(NBN):c.589del (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.589dup (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.593C>T (p.Pro198Leu) rs951997505
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.618A>G (p.Gly206=) rs1554564281
NM_002485.5(NBN):c.63C>T (p.Gly21=) rs1064795458
NM_002485.5(NBN):c.640G>C (p.Gly214Arg) rs1554564269
NM_002485.5(NBN):c.655A>C (p.Lys219Gln) rs730881846
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.680T>C (p.Phe227Ser) rs749025721
NM_002485.5(NBN):c.684A>G (p.Ile228Met) rs1064793416
NM_002485.5(NBN):c.693T>G (p.Asn231Lys)
NM_002485.5(NBN):c.697A>T (p.Lys233Ter) rs1554564205
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.6G>A (p.Trp2Ter) rs876661130
NM_002485.5(NBN):c.702+1G>T rs1057517104
NM_002485.5(NBN):c.703-3T>C rs876659566
NM_002485.5(NBN):c.706A>G (p.Lys236Glu) rs1060503482
NM_002485.5(NBN):c.712T>C (p.Leu238=) rs748400884
NM_002485.5(NBN):c.715A>C (p.Ser239Arg) rs587781868
NM_002485.5(NBN):c.721G>C (p.Ala241Pro) rs587781333
NM_002485.5(NBN):c.724G>C (p.Val242Leu) rs1434146100
NM_002485.5(NBN):c.736G>A (p.Gly246Ser) rs1064793212
NM_002485.5(NBN):c.741G>A (p.Gly247=) rs747021126
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.5(NBN):c.745G>A (p.Ala249Thr) rs2129830740
NM_002485.5(NBN):c.746C>A (p.Ala249Asp) rs2129830699
NM_002485.5(NBN):c.750G>A (p.Arg250=) rs758852942
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.5(NBN):c.75dup (p.Val26fs) rs1199711768
NM_002485.5(NBN):c.765G>C (p.Glu255Asp) rs2129830286
NM_002485.5(NBN):c.778C>T (p.His260Tyr) rs767013459
NM_002485.5(NBN):c.782A>T (p.Asn261Ile) rs1811461476
NM_002485.5(NBN):c.800dup (p.Thr268fs) rs1554563955
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002485.5(NBN):c.817_848dup (p.Pro283_Asp284insGlnGluTer) rs876661254
NM_002485.5(NBN):c.817dup (p.Thr273fs) rs730881839
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.864A>G (p.Lys288=) rs1554563842
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.5(NBN):c.873G>A (p.Gln291=) rs786202939
NM_002485.5(NBN):c.880A>T (p.Met294Leu) rs746381477
NM_002485.5(NBN):c.888G>A (p.Met296Ile)
NM_002485.5(NBN):c.896+10dup rs763938484
NM_002485.5(NBN):c.896+13T>C rs376695206
NM_002485.5(NBN):c.896+24dup rs13312882
NM_002485.5(NBN):c.896+30_896+31insA rs2129826487
NM_002485.5(NBN):c.897-18dup rs957902993
NM_002485.5(NBN):c.897G>T (p.Arg299Ser) rs779798363
NM_002485.5(NBN):c.902G>T (p.Gly301Val) rs749857140
NM_002485.5(NBN):c.914T>C (p.Ile305Thr) rs1586076225
NM_002485.5(NBN):c.924A>G (p.Ala308=) rs1554562173
NM_002485.5(NBN):c.925G>A (p.Glu309Lys) rs587780101
NM_002485.5(NBN):c.932G>A (p.Gly311Glu) rs1563548856
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.942G>A (p.Val314=) rs749757928
NM_002485.5(NBN):c.955A>G (p.Thr319Ala) rs876659969
NM_002485.5(NBN):c.956del (p.Thr319fs) rs1586075954
NM_002485.5(NBN):c.968G>A (p.Cys323Tyr) rs730881848
NM_002485.5(NBN):c.974del (p.Pro325fs) rs1554562110
NM_002485.5(NBN):c.976C>G (p.Gln326Glu) rs121908973
NM_002485.5(NBN):c.994+1G>T rs1554562083
NM_002485.5(NBN):c.994+3A>C
NM_002485.5(NBN):c.995-2A>G rs876659521

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