ClinVar Miner

List of variants reported as likely benign for Microcephaly, normal intelligence and immunodeficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 915
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.*2129G>T rs117807915 0.01258
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_002485.5(NBN):c.*1222A>C rs13312985 0.00662
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_002485.5(NBN):c.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.939G>A (p.Ala313=) rs145750430 0.00025
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.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.266G>C (p.Arg89Pro) rs747315554 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
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.1198G>A (p.Ala400Thr) rs551602980 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.819A>T (p.Thr273=) rs147660518 0.00006
NM_002485.5(NBN):c.930T>A (p.Ile310=) rs142813526 0.00006
NM_002485.5(NBN):c.994+11C>T rs377076593 0.00006
NM_002485.5(NBN):c.1454C>T (p.Thr485Met) rs200891292 0.00005
NM_002485.5(NBN):c.2070+13A>G rs558868023 0.00005
NM_002485.5(NBN):c.-10A>T rs759094270 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.147T>G (p.Thr49=) rs749206453 0.00004
NM_002485.5(NBN):c.481-4G>A rs754864893 0.00004
NM_002485.5(NBN):c.720C>T (p.Ser240=) rs781323381 0.00004
NM_002485.5(NBN):c.994+9A>G rs559438888 0.00004
NM_002485.5(NBN):c.1419A>G (p.Gln473=) rs587780535 0.00003
NM_002485.5(NBN):c.207A>G (p.Lys69=) rs754352569 0.00003
NM_002485.5(NBN):c.2235-18C>T rs138106214 0.00003
NM_002485.5(NBN):c.480+20C>G rs371204291 0.00003
NM_002485.5(NBN):c.495C>G (p.Leu165=) rs764290829 0.00003
NM_002485.5(NBN):c.702+9G>A rs748373099 0.00003
NM_002485.5(NBN):c.896+13T>G rs376695206 0.00003
NM_002485.5(NBN):c.936G>A (p.Leu312=) rs148517156 0.00003
NM_002485.5(NBN):c.994+20A>G rs756077531 0.00003
NM_002485.5(NBN):c.995-12T>C rs1057521081 0.00003
NM_002485.5(NBN):c.995-18T>G rs1165001297 0.00003
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.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.177A>G (p.Gln59=) rs758457183 0.00002
NM_002485.5(NBN):c.1893A>G (p.Leu631=) rs778364604 0.00002
NM_002485.5(NBN):c.1914+16T>C rs755194571 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.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.38-20T>A rs774709748 0.00002
NM_002485.5(NBN):c.549A>T (p.Ala183=) rs780661058 0.00002
NM_002485.5(NBN):c.657A>G (p.Lys219=) rs745768664 0.00002
NM_002485.5(NBN):c.663C>T (p.Ile221=) rs372705975 0.00002
NM_002485.5(NBN):c.702+13T>C rs781303760 0.00002
NM_002485.5(NBN):c.702+15A>G rs900872637 0.00002
NM_002485.5(NBN):c.896+14C>A rs1468311992 0.00002
NM_002485.5(NBN):c.966C>T (p.Tyr322=) rs748453607 0.00002
NM_002485.5(NBN):c.995-16C>T rs777288661 0.00002
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_002485.5(NBN):c.1056A>G (p.Leu352=) rs369092711 0.00001
NM_002485.5(NBN):c.1065C>T (p.Ser355=) rs876659205 0.00001
NM_002485.5(NBN):c.1122A>G (p.Thr374=) rs876660925 0.00001
NM_002485.5(NBN):c.1124+7C>T rs1060504929 0.00001
NM_002485.5(NBN):c.1124+9T>G rs864622466 0.00001
NM_002485.5(NBN):c.1125-11T>G rs1373365760 0.00001
NM_002485.5(NBN):c.1125-12C>G rs1810676263 0.00001
NM_002485.5(NBN):c.1173A>G (p.Gln391=) rs780602705 0.00001
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser) rs529340553 0.00001
NM_002485.5(NBN):c.1239T>C (p.Asn413=) rs1563531944 0.00001
NM_002485.5(NBN):c.1281A>G (p.Pro427=) rs1554559167 0.00001
NM_002485.5(NBN):c.1299A>G (p.Pro433=) rs1161505808 0.00001
NM_002485.5(NBN):c.1315A>G (p.Ile439Val) rs752837508 0.00001
NM_002485.5(NBN):c.1383G>A (p.Pro461=) rs886063169 0.00001
NM_002485.5(NBN):c.1397+3C>G rs876660481 0.00001
NM_002485.5(NBN):c.1397+7T>G rs1554558986 0.00001
NM_002485.5(NBN):c.1398-14T>A rs774489464 0.00001
NM_002485.5(NBN):c.1398-17T>G rs561077201 0.00001
NM_002485.5(NBN):c.1398-9A>T rs773093849 0.00001
NM_002485.5(NBN):c.1455G>A (p.Thr485=) rs772864909 0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) rs143948240 0.00001
NM_002485.5(NBN):c.1494C>T (p.Pro498=) rs1554558484 0.00001
NM_002485.5(NBN):c.1563C>T (p.Asn521=) rs765959451 0.00001
NM_002485.5(NBN):c.156T>C (p.Phe52=) rs777925415 0.00001
NM_002485.5(NBN):c.15G>A (p.Leu5=) rs1363180098 0.00001
NM_002485.5(NBN):c.15G>C (p.Leu5=) rs1363180098 0.00001
NM_002485.5(NBN):c.1671C>A (p.Ala557=) rs1057521670 0.00001
NM_002485.5(NBN):c.1695G>A (p.Gln565=) rs557356152 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.172-12C>G rs1363297893 0.00001
NM_002485.5(NBN):c.1737A>G (p.Lys579=) rs753582962 0.00001
NM_002485.5(NBN):c.1761C>T (p.Val587=) rs769773789 0.00001
NM_002485.5(NBN):c.1845+13T>C rs1339779522 0.00001
NM_002485.5(NBN):c.1890A>C (p.Ser630=) rs587780778 0.00001
NM_002485.5(NBN):c.1902T>G (p.Ala634=) rs876660052 0.00001
NM_002485.5(NBN):c.1915-8C>T rs368132097 0.00001
NM_002485.5(NBN):c.1932G>A (p.Gln644=) rs754783870 0.00001
NM_002485.5(NBN):c.195A>G (p.Val65=) rs1385971118 0.00001
NM_002485.5(NBN):c.1989G>A (p.Val663=) rs757753217 0.00001
NM_002485.5(NBN):c.2007C>T (p.Ser669=) rs200399787 0.00001
NM_002485.5(NBN):c.2037T>C (p.Tyr679=) rs864622555 0.00001
NM_002485.5(NBN):c.2061A>G (p.Lys687=) rs758675398 0.00001
NM_002485.5(NBN):c.2070+15T>G rs764467759 0.00001
NM_002485.5(NBN):c.2070+7A>G rs757339440 0.00001
NM_002485.5(NBN):c.2073C>T (p.Val691=) rs876658178 0.00001
NM_002485.5(NBN):c.2115A>G (p.Gly705=) rs1173178388 0.00001
NM_002485.5(NBN):c.2136T>C (p.His712=) rs1429343146 0.00001
NM_002485.5(NBN):c.2151A>G (p.Thr717=) rs760687282 0.00001
NM_002485.5(NBN):c.2184+7A>G rs200812782 0.00001
NM_002485.5(NBN):c.2185-12T>G rs373516568 0.00001
NM_002485.5(NBN):c.2185-15T>C rs1259580674 0.00001
NM_002485.5(NBN):c.2211G>A (p.Glu737=) rs753596803 0.00001
NM_002485.5(NBN):c.2234+14C>G rs763071338 0.00001
NM_002485.5(NBN):c.2234+9T>G rs1446505128 0.00001
NM_002485.5(NBN):c.2235-19C>T rs1057524430 0.00001
NM_002485.5(NBN):c.2235-8C>T rs369037495 0.00001
NM_002485.5(NBN):c.2235-9T>C rs1162154079 0.00001
NM_002485.5(NBN):c.2244T>A (p.Pro748=) rs1554553884 0.00001
NM_002485.5(NBN):c.2247T>C (p.Tyr749=) rs762740478 0.00001
NM_002485.5(NBN):c.243A>G (p.Glu81=) rs786203921 0.00001
NM_002485.5(NBN):c.286G>A (p.Gly96Ser) rs730882133 0.00001
NM_002485.5(NBN):c.297T>C (p.Phe99=) rs1563580668 0.00001
NM_002485.5(NBN):c.306T>C (p.Phe102=) rs1554568276 0.00001
NM_002485.5(NBN):c.320+16A>G rs1461131932 0.00001
NM_002485.5(NBN):c.321-17C>G rs763878712 0.00001
NM_002485.5(NBN):c.321-8A>G rs1586107521 0.00001
NM_002485.5(NBN):c.333G>A (p.Glu111=) rs376455714 0.00001
NM_002485.5(NBN):c.33A>C (p.Ala11=) rs1554569661 0.00001
NM_002485.5(NBN):c.366C>T (p.Val122=) rs748684665 0.00001
NM_002485.5(NBN):c.37+13G>A rs1275233507 0.00001
NM_002485.5(NBN):c.37+17A>G rs749712282 0.00001
NM_002485.5(NBN):c.37+3A>G rs764356392 0.00001
NM_002485.5(NBN):c.37+7G>A rs372850559 0.00001
NM_002485.5(NBN):c.38-5C>T rs775244752 0.00001
NM_002485.5(NBN):c.38-7A>G rs863224392 0.00001
NM_002485.5(NBN):c.38-8T>C rs62531987 0.00001
NM_002485.5(NBN):c.384A>G (p.Leu128=) rs587780782 0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_002485.5(NBN):c.415A>G (p.Thr139Ala) rs543852763 0.00001
NM_002485.5(NBN):c.420A>G (p.Val140=) rs767296279 0.00001
NM_002485.5(NBN):c.432A>G (p.Thr144=) rs886043003 0.00001
NM_002485.5(NBN):c.45A>G (p.Pro15=) rs577332041 0.00001
NM_002485.5(NBN):c.474C>T (p.Thr158=) rs1563578527 0.00001
NM_002485.5(NBN):c.480+18T>C rs1459034801 0.00001
NM_002485.5(NBN):c.481-18_481-17del rs778286254 0.00001
NM_002485.5(NBN):c.481-19C>T rs1563574425 0.00001
NM_002485.5(NBN):c.481-9T>A rs1563574400 0.00001
NM_002485.5(NBN):c.483A>G (p.Thr161=) rs758276775 0.00001
NM_002485.5(NBN):c.510A>G (p.Pro170=) rs772311947 0.00001
NM_002485.5(NBN):c.522A>G (p.Pro174=) rs1489530490 0.00001
NM_002485.5(NBN):c.525A>G (p.Glu175=) rs769400631 0.00001
NM_002485.5(NBN):c.567G>A (p.Gln189=) rs1203807404 0.00001
NM_002485.5(NBN):c.57G>A (p.Leu19=) rs1434720352 0.00001
NM_002485.5(NBN):c.584+19A>G rs1187374555 0.00001
NM_002485.5(NBN):c.584+9T>C rs746913991 0.00001
NM_002485.5(NBN):c.585-15T>C rs746465355 0.00001
NM_002485.5(NBN):c.585-5T>C rs1586088968 0.00001
NM_002485.5(NBN):c.588T>C (p.Phe196=) rs745821999 0.00001
NM_002485.5(NBN):c.621T>C (p.Ser207=) rs876658177 0.00001
NM_002485.5(NBN):c.627T>C (p.Asn209=) rs767520591 0.00001
NM_002485.5(NBN):c.646C>A (p.Gln216Lys) rs769416 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.696C>T (p.Ala232=) rs566091759 0.00001
NM_002485.5(NBN):c.69G>A (p.Glu23=) rs876659411 0.00001
NM_002485.5(NBN):c.703-14C>T rs1411178267 0.00001
NM_002485.5(NBN):c.703-17T>C rs1057523604 0.00001
NM_002485.5(NBN):c.72C>T (p.Tyr24=) rs1001590969 0.00001
NM_002485.5(NBN):c.75T>G (p.Val25=) rs1000181272 0.00001
NM_002485.5(NBN):c.777A>G (p.Glu259=) rs876660469 0.00001
NM_002485.5(NBN):c.810T>G (p.Val270=) rs1431420897 0.00001
NM_002485.5(NBN):c.897G>A (p.Arg299=) rs779798363 0.00001
NM_002485.5(NBN):c.954T>A (p.Thr318=) rs1554562137 0.00001
NM_002485.5(NBN):c.957A>G (p.Thr319=) rs1586075933 0.00001
NM_002485.5(NBN):c.990T>C (p.Ser330=) rs1482013266 0.00001
NM_002485.5(NBN):c.994+10G>A rs753761865 0.00001
NM_002485.5(NBN):c.994+15A>G rs1282981376 0.00001
NM_002485.5(NBN):c.994+5T>C rs778254433 0.00001
NM_002485.5(NBN):c.995-15T>G rs1563539377 0.00001
NM_002485.5(NBN):c.*1583G>A rs139384734
NM_002485.5(NBN):c.1005A>G (p.Thr335=)
NM_002485.5(NBN):c.1008A>C (p.Thr336=)
NM_002485.5(NBN):c.1008A>T (p.Thr336=) rs786201619
NM_002485.5(NBN):c.1011T>C (p.Thr337=)
NM_002485.5(NBN):c.1017A>C (p.Gly339=) rs2129746806
NM_002485.5(NBN):c.102G>T (p.Leu34=)
NM_002485.5(NBN):c.1032A>G (p.Gln344=) rs1159161073
NM_002485.5(NBN):c.1035C>A (p.Gly345=) rs146605798
NM_002485.5(NBN):c.1041A>C (p.Ser347=) rs1586065991
NM_002485.5(NBN):c.1050A>G (p.Glu350=)
NM_002485.5(NBN):c.1053A>G (p.Lys351=) rs1810854037
NM_002485.5(NBN):c.1054C>T (p.Leu352=) rs1586065915
NM_002485.5(NBN):c.105T>A (p.Ile35=) rs78870221
NM_002485.5(NBN):c.105T>C (p.Ile35=) rs78870221
NM_002485.5(NBN):c.1071A>C (p.Pro357=)
NM_002485.5(NBN):c.1071A>G (p.Pro357=) rs1810852191
NM_002485.5(NBN):c.1077C>T (p.Asn359=) rs2129745426
NM_002485.5(NBN):c.1080T>C (p.Thr360=) rs876660415
NM_002485.5(NBN):c.1086A>C (p.Thr362=) rs876659734
NM_002485.5(NBN):c.1092A>G (p.Val364=)
NM_002485.5(NBN):c.1095T>C (p.Ala365=) rs1554560368
NM_002485.5(NBN):c.10C>T (p.Leu4=) rs1426394881
NM_002485.5(NBN):c.1104A>G (p.Glu368=)
NM_002485.5(NBN):c.1107A>C (p.Ser369=) rs1586065630
NM_002485.5(NBN):c.1107A>G (p.Ser369=) rs1586065630
NM_002485.5(NBN):c.1110G>A (p.Glu370=) rs1586065611
NM_002485.5(NBN):c.1113A>G (p.Gln371=)
NM_002485.5(NBN):c.1116A>G (p.Ala372=) rs1810848142
NM_002485.5(NBN):c.1124+10C>T rs2129744144
NM_002485.5(NBN):c.1124+11_1124+13del rs747584990
NM_002485.5(NBN):c.1124+12T>C rs1057521099
NM_002485.5(NBN):c.1124+13C>T
NM_002485.5(NBN):c.1124+14A>G
NM_002485.5(NBN):c.1124+15T>C
NM_002485.5(NBN):c.1124+16del
NM_002485.5(NBN):c.1124+17_1124+18delinsTT rs2129744080
NM_002485.5(NBN):c.1124+18C>G
NM_002485.5(NBN):c.1124+20G>C
NM_002485.5(NBN):c.1124+20G>T
NM_002485.5(NBN):c.1124+5A>T rs587782108
NM_002485.5(NBN):c.1124+8T>G
NM_002485.5(NBN):c.1124+9T>C
NM_002485.5(NBN):c.1125-12C>A
NM_002485.5(NBN):c.1125-13T>A rs2129722556
NM_002485.5(NBN):c.1125-15T>C rs2129722592
NM_002485.5(NBN):c.1125-16T>G
NM_002485.5(NBN):c.1125-17C>G rs772466522
NM_002485.5(NBN):c.1125-20A>G
NM_002485.5(NBN):c.1125-22_1125-15del rs2129722609
NM_002485.5(NBN):c.1125-4A>G rs1554559375
NM_002485.5(NBN):c.1125-7T>A
NM_002485.5(NBN):c.1140G>A (p.Arg380=) rs762590883
NM_002485.5(NBN):c.1143A>G (p.Pro381=) rs1554559361
NM_002485.5(NBN):c.1146A>G (p.Lys382=) rs1554559357
NM_002485.5(NBN):c.1161C>T (p.Ser387=) rs1042756575
NM_002485.5(NBN):c.1170A>G (p.Glu390=) rs1554559326
NM_002485.5(NBN):c.1176A>G (p.Lys392=)
NM_002485.5(NBN):c.1180A>C (p.Arg394=)
NM_002485.5(NBN):c.1182A>G (p.Arg394=) rs1586059412
NM_002485.5(NBN):c.1188T>C (p.Leu396=) rs1554559312
NM_002485.5(NBN):c.1191A>G (p.Ser397=) rs2129721280
NM_002485.5(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.5(NBN):c.1200A>G (p.Ala400=) rs2129720998
NM_002485.5(NBN):c.1206T>C (p.Thr402=) rs1810667513
NM_002485.5(NBN):c.120G>A (p.Ser40=) rs774989816
NM_002485.5(NBN):c.120G>C (p.Ser40=) rs774989816
NM_002485.5(NBN):c.1212G>A (p.Lys404=) rs753212974
NM_002485.5(NBN):c.1215G>A (p.Glu405=)
NM_002485.5(NBN):c.1218C>T (p.Ser406=)
NM_002485.5(NBN):c.1227A>G (p.Thr409=) rs1554559251
NM_002485.5(NBN):c.1230C>T (p.Ser410=) rs878854504
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.5(NBN):c.123C>A (p.Ile41=) rs887413615
NM_002485.5(NBN):c.123C>T (p.Ile41=) rs887413615
NM_002485.5(NBN):c.1242T>C (p.Asn414=) rs864622135
NM_002485.5(NBN):c.1245T>C (p.Ser415=) rs776180689
NM_002485.5(NBN):c.1251A>G (p.Val417=) rs749316300
NM_002485.5(NBN):c.1254A>G (p.Ser418=) rs2129719709
NM_002485.5(NBN):c.1257T>C (p.Asn419=) rs1586058905
NM_002485.5(NBN):c.1260T>A (p.Thr420=) rs1554559199
NM_002485.5(NBN):c.1261T>C (p.Leu421=) rs2129719531
NM_002485.5(NBN):c.1266T>C (p.Ala422=) rs2129719439
NM_002485.5(NBN):c.1269G>A (p.Lys423=) rs2129719377
NM_002485.5(NBN):c.126C>T (p.Ser42=) rs2129924815
NM_002485.5(NBN):c.1273A>C (p.Arg425=) rs1554559177
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys) rs1060503478
NM_002485.5(NBN):c.1293T>A (p.Leu431=) rs2129718873
NM_002485.5(NBN):c.1296A>G (p.Ser432=) rs1554559144
NM_002485.5(NBN):c.129A>C (p.Arg43=) rs1327270687
NM_002485.5(NBN):c.129A>G (p.Arg43=) rs1327270687
NM_002485.5(NBN):c.12G>A (p.Leu4=) rs1812243844
NM_002485.5(NBN):c.1308G>A (p.Leu436=) rs756208277
NM_002485.5(NBN):c.1311A>G (p.Pro437=)
NM_002485.5(NBN):c.1314T>C (p.Ser438=) rs1057521491
NM_002485.5(NBN):c.1323A>G (p.Lys441=)
NM_002485.5(NBN):c.1332T>C (p.Asp444=) rs1810653364
NM_002485.5(NBN):c.1335G>A (p.Arg445=) rs1554559085
NM_002485.5(NBN):c.1338T>C (p.Ala446=) rs1373132755
NM_002485.5(NBN):c.1338T>G (p.Ala446=) rs1373132755
NM_002485.5(NBN):c.1347G>A (p.Gln449=) rs761492204
NM_002485.5(NBN):c.1350G>A (p.Gln450=) rs2129717669
NM_002485.5(NBN):c.1353G>A (p.Gln451=) rs1554559063
NM_002485.5(NBN):c.1356C>T (p.Thr452=) rs1402518842
NM_002485.5(NBN):c.135T>C (p.His45=) rs770618624
NM_002485.5(NBN):c.1362C>T (p.Ser454=) rs587780775
NM_002485.5(NBN):c.1368A>G (p.Arg456=) rs1554559036
NM_002485.5(NBN):c.1374C>T (p.Tyr458=) rs2129717018
NM_002485.5(NBN):c.1386T>C (p.Ser462=) rs772094384
NM_002485.5(NBN):c.1392A>G (p.Lys464=) rs2129716580
NM_002485.5(NBN):c.1395A>G (p.Lys465=) rs1213870507
NM_002485.5(NBN):c.1397+10T>C rs1554558985
NM_002485.5(NBN):c.1397+11G>A
NM_002485.5(NBN):c.1397+11G>T
NM_002485.5(NBN):c.1397+15A>G rs2129716128
NM_002485.5(NBN):c.1397+16C>T rs2129716112
NM_002485.5(NBN):c.1397+19C>T
NM_002485.5(NBN):c.1397+8T>C rs2129716281
NM_002485.5(NBN):c.1397+9T>C rs1810644919
NM_002485.5(NBN):c.1398-10T>C rs539960851
NM_002485.5(NBN):c.1398-10del rs587780555
NM_002485.5(NBN):c.1398-13_1398-10del rs587780555
NM_002485.5(NBN):c.1398-15T>A
NM_002485.5(NBN):c.1398-17T>C
NM_002485.5(NBN):c.1398-19C>G
NM_002485.5(NBN):c.1398-19_1398-17del rs1297354269
NM_002485.5(NBN):c.1398-19del
NM_002485.5(NBN):c.1398-4dup rs2129704523
NM_002485.5(NBN):c.1398-5C>T
NM_002485.5(NBN):c.1398-8A>T rs2129704576
NM_002485.5(NBN):c.1398-9A>G rs773093849
NM_002485.5(NBN):c.1401A>G (p.Glu467=) rs2129704446
NM_002485.5(NBN):c.1413A>G (p.Glu471=) rs1554558584
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys) rs755805461
NM_002485.5(NBN):c.141G>C (p.Val47=) rs2129924554
NM_002485.5(NBN):c.1431A>G (p.Ser477=) rs759060729
NM_002485.5(NBN):c.1443A>G (p.Ala481=) rs751121403
NM_002485.5(NBN):c.144A>G (p.Leu48=) rs1563584056
NM_002485.5(NBN):c.1455G>T (p.Thr485=)
NM_002485.5(NBN):c.1464T>C (p.Ser488=) rs2129703123
NM_002485.5(NBN):c.1479A>G (p.Thr493=)
NM_002485.5(NBN):c.147T>A (p.Thr49=) rs749206453
NM_002485.5(NBN):c.1488T>C (p.Ala496=) rs2129702580
NM_002485.5(NBN):c.1488T>G (p.Ala496=)
NM_002485.5(NBN):c.1491A>G (p.Thr497=) rs1554558489
NM_002485.5(NBN):c.1494C>G (p.Pro498=) rs1554558484
NM_002485.5(NBN):c.1497A>G (p.Ser499=) rs774032674
NM_002485.5(NBN):c.1498T>C (p.Leu500=) rs779116935
NM_002485.5(NBN):c.1500G>A (p.Leu500=) rs1586054284
NM_002485.5(NBN):c.1509T>C (p.Asn503=) rs876660751
NM_002485.5(NBN):c.150T>C (p.Ala50=) rs1586111590
NM_002485.5(NBN):c.1512G>A (p.Lys504=)
NM_002485.5(NBN):c.1515G>A (p.Glu505=) rs2129702018
NM_002485.5(NBN):c.1524A>G (p.Leu508=) rs1266314359
NM_002485.5(NBN):c.1524A>T (p.Leu508=) rs1266314359
NM_002485.5(NBN):c.1527T>C (p.Ser509=)
NM_002485.5(NBN):c.1533T>C (p.Asn511=)
NM_002485.5(NBN):c.1536G>A (p.Glu512=) rs754267250
NM_002485.5(NBN):c.1545C>T (p.Asp515=)
NM_002485.5(NBN):c.1551C>T (p.Asn517=) rs876658744
NM_002485.5(NBN):c.1554A>C (p.Ser518=) rs2129701132
NM_002485.5(NBN):c.1560T>C (p.Asn520=) rs2129701011
NM_002485.5(NBN):c.1578A>G (p.Thr526=) rs2129700754
NM_002485.5(NBN):c.1582T>C (p.Leu528=) rs2129700664
NM_002485.5(NBN):c.1587A>G (p.Lys529=) rs1057521983
NM_002485.5(NBN):c.1623T>C (p.Ala541=) rs1209398379
NM_002485.5(NBN):c.1626A>G (p.Ala542=) rs1563526123
NM_002485.5(NBN):c.1635A>G (p.Leu545=) rs1353578845
NM_002485.5(NBN):c.1647A>G (p.Lys549=) rs988523294
NM_002485.5(NBN):c.1653G>A (p.Arg551=)
NM_002485.5(NBN):c.165C>T (p.Thr55=) rs1812127469
NM_002485.5(NBN):c.1665T>C (p.Asp555=)
NM_002485.5(NBN):c.1671C>T (p.Ala557=) rs1057521670
NM_002485.5(NBN):c.1686A>G (p.Val562=)
NM_002485.5(NBN):c.1687T>C (p.Leu563=) rs1466493008
NM_002485.5(NBN):c.168C>T (p.Asn56=) rs1586111516
NM_002485.5(NBN):c.1692A>G (p.Glu564=) rs2129698510
NM_002485.5(NBN):c.169C>T (p.Leu57=) rs1586111504
NM_002485.5(NBN):c.1701C>T (p.Phe567=) rs730881853
NM_002485.5(NBN):c.1707C>T (p.Asp569=) rs1057522522
NM_002485.5(NBN):c.171+11A>C
NM_002485.5(NBN):c.171+19T>C
NM_002485.5(NBN):c.171+7T>A
NM_002485.5(NBN):c.171+8A>G
NM_002485.5(NBN):c.171+8dup rs2129923970
NM_002485.5(NBN):c.171+9C>T rs1057522123
NM_002485.5(NBN):c.1710A>G (p.Thr570=) rs1586053313
NM_002485.5(NBN):c.1713A>G (p.Lys571=) rs2129698120
NM_002485.5(NBN):c.1716A>C (p.Pro572=) rs1586053267
NM_002485.5(NBN):c.1716A>G (p.Pro572=) rs1586053267
NM_002485.5(NBN):c.1719G>A (p.Glu573=) rs1586053258
NM_002485.5(NBN):c.172-10A>C
NM_002485.5(NBN):c.172-11T>C
NM_002485.5(NBN):c.172-12C>T
NM_002485.5(NBN):c.172-15T>G
NM_002485.5(NBN):c.172-16T>C rs2129916835
NM_002485.5(NBN):c.172-17A>G rs368471581
NM_002485.5(NBN):c.172-17del
NM_002485.5(NBN):c.172-19T>A rs2129916862
NM_002485.5(NBN):c.172-28_172-20del rs774151023
NM_002485.5(NBN):c.172-529G>A rs104895039
NM_002485.5(NBN):c.172-8C>A rs1335357045
NM_002485.5(NBN):c.1722A>G (p.Leu574=)
NM_002485.5(NBN):c.1731T>C (p.Asp577=) rs2129697808
NM_002485.5(NBN):c.1734G>C (p.Val578=)
NM_002485.5(NBN):c.1743A>G (p.Gln581=) rs2129697558
NM_002485.5(NBN):c.1746A>G (p.Lys582=) rs1586053134
NM_002485.5(NBN):c.174T>C (p.Ser58=)
NM_002485.5(NBN):c.1752G>A (p.Glu584=) rs1554558267
NM_002485.5(NBN):c.1755A>G (p.Glu585=)
NM_002485.5(NBN):c.1764T>C (p.Asn588=) rs1554558253
NM_002485.5(NBN):c.1770A>G (p.Arg590=) rs1586053003
NM_002485.5(NBN):c.1779A>G (p.Pro593=) rs2129696801
NM_002485.5(NBN):c.1782G>A (p.Arg594=) rs1810524788
NM_002485.5(NBN):c.1797A>G (p.Thr599=) rs1810523208
NM_002485.5(NBN):c.1806T>A (p.Thr602=) rs1477618624
NM_002485.5(NBN):c.1809C>T (p.Phe603=)
NM_002485.5(NBN):c.180A>T (p.Thr60=)
NM_002485.5(NBN):c.1812T>C (p.Ser604=) rs1586052747
NM_002485.5(NBN):c.1818A>G (p.Glu606=)
NM_002485.5(NBN):c.1821A>G (p.Ala607=) rs1554558213
NM_002485.5(NBN):c.1830A>G (p.Glu610=) rs2129695896
NM_002485.5(NBN):c.1833T>C (p.Ser611=) rs1554558203
NM_002485.5(NBN):c.183T>C (p.Asp61=) rs2129916430
NM_002485.5(NBN):c.1845+10A>G rs570914185
NM_002485.5(NBN):c.1845+17A>G rs1810518657
NM_002485.5(NBN):c.1845+19G>A rs1810518461
NM_002485.5(NBN):c.1845+7A>T
NM_002485.5(NBN):c.1845+8A>G rs757994058
NM_002485.5(NBN):c.1845+9C>G
NM_002485.5(NBN):c.1845+9C>T rs1586052588
NM_002485.5(NBN):c.1846-10A>G rs2129660939
NM_002485.5(NBN):c.1846-10A>T rs2129660939
NM_002485.5(NBN):c.1846-11_1846-7del rs1060504925
NM_002485.5(NBN):c.1846-12T>C
NM_002485.5(NBN):c.1846-14T>C rs2129661007
NM_002485.5(NBN):c.1846-6C>T rs1586043853
NM_002485.5(NBN):c.1846-7T>C
NM_002485.5(NBN):c.1846-7T>G rs2129660876
NM_002485.5(NBN):c.1846-9T>C rs1554556966
NM_002485.5(NBN):c.1851A>G (p.Glu617=)
NM_002485.5(NBN):c.1854T>C (p.Asn618=) rs2129660657
NM_002485.5(NBN):c.1860T>C (p.Ile620=) rs1060504927
NM_002485.5(NBN):c.1863G>A (p.Gly621=) rs773909162
NM_002485.5(NBN):c.1869A>G (p.Lys623=) rs2129660412
NM_002485.5(NBN):c.1884A>G (p.Glu628=) rs771709611
NM_002485.5(NBN):c.1891C>G (p.Leu631Val) rs1064793477
NM_002485.5(NBN):c.1891C>T (p.Leu631=) rs1064793477
NM_002485.5(NBN):c.189C>A (p.Ile63=) rs1554568383
NM_002485.5(NBN):c.189C>T (p.Ile63=) rs1554568383
NM_002485.5(NBN):c.18C>G (p.Pro6=) rs786201394
NM_002485.5(NBN):c.18C>T (p.Pro6=) rs786201394
NM_002485.5(NBN):c.1902T>C (p.Ala634=) rs876660052
NM_002485.5(NBN):c.1908A>G (p.Glu636=)
NM_002485.5(NBN):c.1914+11T>C
NM_002485.5(NBN):c.1914+13T>A
NM_002485.5(NBN):c.1914+14T>C
NM_002485.5(NBN):c.1914+16_1914+18del rs1437396256
NM_002485.5(NBN):c.1914+17T>C rs1275235372
NM_002485.5(NBN):c.1914+18A>G rs2129659249
NM_002485.5(NBN):c.1914+18_1914+21del rs773894616
NM_002485.5(NBN):c.1914+19A>C rs2129659201
NM_002485.5(NBN):c.1914+20T>G rs1459013677
NM_002485.5(NBN):c.1914+7A>T
NM_002485.5(NBN):c.1914+8A>G rs2129659430
NM_002485.5(NBN):c.1915-11C>T rs1053297568
NM_002485.5(NBN):c.1915-15T>G rs2129649793
NM_002485.5(NBN):c.1915-16C>G
NM_002485.5(NBN):c.1915-18A>G
NM_002485.5(NBN):c.1915-19C>T rs1810190195
NM_002485.5(NBN):c.1915-3dup rs2129649518
NM_002485.5(NBN):c.1915-5T>G rs1554556608
NM_002485.5(NBN):c.1915-8_1915-7inv
NM_002485.5(NBN):c.1915-9C>T
NM_002485.5(NBN):c.1920T>C (p.Asn640=) rs1554556602
NM_002485.5(NBN):c.1929T>G (p.Leu643=)
NM_002485.5(NBN):c.192T>C (p.Pro64=) rs1554568378
NM_002485.5(NBN):c.1941T>C (p.Ser647=) rs1477953712
NM_002485.5(NBN):c.1950T>C (p.Leu650=) rs2129648687
NM_002485.5(NBN):c.1959G>A (p.Lys653=) rs2129648549
NM_002485.5(NBN):c.1963T>C (p.Leu655=) rs2129648442
NM_002485.5(NBN):c.1966T>C (p.Leu656=) rs878854508
NM_002485.5(NBN):c.1971T>C (p.Thr657=)
NM_002485.5(NBN):c.1977T>C (p.Phe659=) rs2129648097
NM_002485.5(NBN):c.1980A>G (p.Arg660=) rs2129648040
NM_002485.5(NBN):c.1983A>G (p.Ser661=) rs876658655
NM_002485.5(NBN):c.198G>A (p.Leu66=) rs757735005
NM_002485.5(NBN):c.1992T>A (p.Ile664=) rs1810182762
NM_002485.5(NBN):c.1992T>C (p.Ile664=) rs1810182762
NM_002485.5(NBN):c.1998C>T (p.Asn666=) rs1057523508
NM_002485.5(NBN):c.2001T>C (p.Ser667=) rs1586040479
NM_002485.5(NBN):c.2004T>C (p.Thr668=) rs1563513242
NM_002485.5(NBN):c.2004T>G (p.Thr668=) rs1563513242
NM_002485.5(NBN):c.2013T>C (p.Asn671=) rs1586040407
NM_002485.5(NBN):c.2016A>C (p.Pro672=) rs1061302
NM_002485.5(NBN):c.2016A>T (p.Pro672=)
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser) rs1563513091
NM_002485.5(NBN):c.2022C>T (p.Gly674=) rs1554556503
NM_002485.5(NBN):c.2034T>C (p.Asp678=) rs769252040
NM_002485.5(NBN):c.2040T>C (p.Gly680=)
NM_002485.5(NBN):c.2044C>T (p.Leu682=) rs1554556483
NM_002485.5(NBN):c.2046A>G (p.Leu682=) rs1554556481
NM_002485.5(NBN):c.204A>G (p.Leu68=) rs786201800
NM_002485.5(NBN):c.2058G>A (p.Lys686=) rs2130763599
NM_002485.5(NBN):c.2067A>G (p.Lys689=)
NM_002485.5(NBN):c.2070+11C>T
NM_002485.5(NBN):c.2070+14C>T
NM_002485.5(NBN):c.2070+15T>C
NM_002485.5(NBN):c.2070+16G>A rs1554556450
NM_002485.5(NBN):c.2070+16_2070+17del
NM_002485.5(NBN):c.2070+17dup
NM_002485.5(NBN):c.2070+18A>G rs756636190
NM_002485.5(NBN):c.2070+19del
NM_002485.5(NBN):c.2070+8T>C
NM_002485.5(NBN):c.2070+9T>C rs2130763437
NM_002485.5(NBN):c.2071-12A>G rs2130756398
NM_002485.5(NBN):c.2071-14T>C rs2130756415
NM_002485.5(NBN):c.2071-16T>A
NM_002485.5(NBN):c.2071-17C>T rs776240552
NM_002485.5(NBN):c.2071-18A>G rs2130756448
NM_002485.5(NBN):c.2071-20C>G rs2130756452
NM_002485.5(NBN):c.2071-4A>T rs746994234
NM_002485.5(NBN):c.2071-6C>A rs768670249
NM_002485.5(NBN):c.2071-8T>C rs1178683426
NM_002485.5(NBN):c.2073C>A (p.Val691=) rs876658178
NM_002485.5(NBN):c.2076A>G (p.Thr692=) rs2130756258
NM_002485.5(NBN):c.2079T>C (p.Tyr693=)
NM_002485.5(NBN):c.2082T>C (p.Pro694=) rs7823648
NM_002485.5(NBN):c.2085A>G (p.Gly695=) rs2130756163
NM_002485.5(NBN):c.2088A>G (p.Ala696=)
NM_002485.5(NBN):c.2091A>T (p.Gly697=)
NM_002485.5(NBN):c.2094A>G (p.Lys698=) rs878854509
NM_002485.5(NBN):c.2097T>C (p.Leu699=) rs1810038889
NM_002485.5(NBN):c.2100A>G (p.Pro700=) rs2130756024
NM_002485.5(NBN):c.2103C>T (p.His701=) rs753991062
NM_002485.5(NBN):c.2106C>A (p.Ile702=) rs1398694666
NM_002485.5(NBN):c.2106C>T (p.Ile702=) rs1398694666
NM_002485.5(NBN):c.210T>C (p.Asp70=)
NM_002485.5(NBN):c.2118A>C (p.Ser706=) rs2130755820
NM_002485.5(NBN):c.2122C>T (p.Leu708=) rs756580887
NM_002485.5(NBN):c.2133T>C (p.His711=) rs2130755705
NM_002485.5(NBN):c.2140C>A (p.Arg714=) rs730881864
NM_002485.5(NBN):c.2154A>G (p.Glu718=) rs2130755446
NM_002485.5(NBN):c.2160A>G (p.Glu720=)
NM_002485.5(NBN):c.2172G>A (p.Arg724=) rs1057523944
NM_002485.5(NBN):c.2184+12G>A rs1402547304
NM_002485.5(NBN):c.2184+12del
NM_002485.5(NBN):c.2184+13T>A rs1341774597
NM_002485.5(NBN):c.2184+16G>A
NM_002485.5(NBN):c.2184+18C>G
NM_002485.5(NBN):c.2184+19C>A
NM_002485.5(NBN):c.2184+19C>G rs1007353959
NM_002485.5(NBN):c.2184+19C>T rs1007353959
NM_002485.5(NBN):c.2184+20C>A
NM_002485.5(NBN):c.2184+8G>A rs730881842
NM_002485.5(NBN):c.2185-13T>C rs1285279553
NM_002485.5(NBN):c.2185-14G>C rs2130739480
NM_002485.5(NBN):c.2185-16A>G
NM_002485.5(NBN):c.2185-17T>C
NM_002485.5(NBN):c.2185-20A>C
NM_002485.5(NBN):c.2185-5G>A
NM_002485.5(NBN):c.2185-7T>C rs1563497932
NM_002485.5(NBN):c.2185-7T>G rs1563497932
NM_002485.5(NBN):c.219G>A (p.Lys73=) rs1586108899
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.2214T>A (p.Ser738=)
NM_002485.5(NBN):c.2214T>C (p.Ser738=)
NM_002485.5(NBN):c.2217T>C (p.Leu739=) rs760207156
NM_002485.5(NBN):c.222T>C (p.Tyr74=) rs1563581193
NM_002485.5(NBN):c.2232T>C (p.Phe744=)
NM_002485.5(NBN):c.2234+12T>C rs1057523867
NM_002485.5(NBN):c.2234+12T>G
NM_002485.5(NBN):c.2234+13T>C rs2130739022
NM_002485.5(NBN):c.2234+14C>T rs763071338
NM_002485.5(NBN):c.2234+16C>A rs1563497498
NM_002485.5(NBN):c.2234+16C>T rs1563497498
NM_002485.5(NBN):c.2234+17C>T rs1057524773
NM_002485.5(NBN):c.2234+9T>C rs1446505128
NM_002485.5(NBN):c.2235-11T>C
NM_002485.5(NBN):c.2235-12C>A
NM_002485.5(NBN):c.2235-12C>G
NM_002485.5(NBN):c.2235-12C>T rs1554553904
NM_002485.5(NBN):c.2235-13del
NM_002485.5(NBN):c.2235-16A>C rs1405688125
NM_002485.5(NBN):c.2235-16A>G rs1405688125
NM_002485.5(NBN):c.2235-18C>G
NM_002485.5(NBN):c.2235-20C>T
NM_002485.5(NBN):c.2235-5T>G rs2130735796
NM_002485.5(NBN):c.2235-6T>C
NM_002485.5(NBN):c.2235-8_2235-5del rs2130735801
NM_002485.5(NBN):c.2238C>T (p.Tyr746=) rs751570713
NM_002485.5(NBN):c.2256G>A (p.Arg752=)
NM_002485.5(NBN):c.2259A>G (p.Arg753=) rs765391308
NM_002485.5(NBN):c.225T>C (p.Gly75=)
NM_002485.5(NBN):c.2260A>C (p.Arg754=) rs2130735641
NM_002485.5(NBN):c.228C>T (p.Thr76=) rs1586108833
NM_002485.5(NBN):c.234T>C (p.Val78=)
NM_002485.5(NBN):c.240G>A (p.Glu80=) rs2129915401
NM_002485.5(NBN):c.24G>T (p.Ala8=) rs779543740
NM_002485.5(NBN):c.258C>T (p.Gly86=)
NM_002485.5(NBN):c.264C>T (p.Ser88=) rs2129914967
NM_002485.5(NBN):c.267A>C (p.Arg89=) rs1554568316
NM_002485.5(NBN):c.267A>G (p.Arg89=) rs1554568316
NM_002485.5(NBN):c.270T>A (p.Thr90=) rs776469548
NM_002485.5(NBN):c.270T>G (p.Thr90=) rs776469548
NM_002485.5(NBN):c.273G>A (p.Leu91=) rs1586108624
NM_002485.5(NBN):c.27C>T (p.Gly9=) rs1554569662
NM_002485.5(NBN):c.282G>C (p.Gly94=) rs2129914580
NM_002485.5(NBN):c.303G>A (p.Val101=)
NM_002485.5(NBN):c.303G>T (p.Val101=) rs1554568287
NM_002485.5(NBN):c.309A>T (p.Gly103=) rs2129914059
NM_002485.5(NBN):c.30G>A (p.Pro10=) rs750391983
NM_002485.5(NBN):c.30G>C (p.Pro10=) rs750391983
NM_002485.5(NBN):c.30G>T (p.Pro10=) rs750391983
NM_002485.5(NBN):c.320+12T>A
NM_002485.5(NBN):c.320+14A>G
NM_002485.5(NBN):c.320+18del
NM_002485.5(NBN):c.320+19G>T rs1298984330
NM_002485.5(NBN):c.320+19_320+20insTCC
NM_002485.5(NBN):c.320+40G>T rs749797574
NM_002485.5(NBN):c.320+7C>A
NM_002485.5(NBN):c.320+7C>T
NM_002485.5(NBN):c.320+8A>G rs1057523296
NM_002485.5(NBN):c.321-12T>C rs1782883619
NM_002485.5(NBN):c.321-13T>C rs1563579693
NM_002485.5(NBN):c.321-14A>C
NM_002485.5(NBN):c.321-16T>G
NM_002485.5(NBN):c.321-20T>A
NM_002485.5(NBN):c.321-6T>C
NM_002485.5(NBN):c.321-9C>T rs760664393
NM_002485.5(NBN):c.327G>A (p.Glu109=) rs1554568031
NM_002485.5(NBN):c.337T>C (p.Leu113=) rs2129910690
NM_002485.5(NBN):c.339G>A (p.Leu113=) rs774622977
NM_002485.5(NBN):c.33A>G (p.Ala11=) rs1554569661
NM_002485.5(NBN):c.342T>G (p.Val114=) rs1563579495
NM_002485.5(NBN):c.351T>G (p.Ser117=) rs1163807799
NM_002485.5(NBN):c.357T>C (p.Cys119=) rs2129910339
NM_002485.5(NBN):c.360A>G (p.Leu120=) rs1563579373
NM_002485.5(NBN):c.36A>C (p.Gly12=) rs1554569658
NM_002485.5(NBN):c.37+10G>A rs369408590
NM_002485.5(NBN):c.37+12A>C rs771196279
NM_002485.5(NBN):c.37+12A>T rs771196279
NM_002485.5(NBN):c.37+12dup rs1563588481
NM_002485.5(NBN):c.37+13G>C
NM_002485.5(NBN):c.37+14G>A
NM_002485.5(NBN):c.37+14G>T rs1275597923
NM_002485.5(NBN):c.37+16A>G
NM_002485.5(NBN):c.37+18G>A
NM_002485.5(NBN):c.37+18G>T rs1812238225
NM_002485.5(NBN):c.37+19C>A
NM_002485.5(NBN):c.37+19C>T rs1340137425
NM_002485.5(NBN):c.37+20C>T rs2129937606
NM_002485.5(NBN):c.37+4A>C rs1586115968
NM_002485.5(NBN):c.37+8C>A rs1554569655
NM_002485.5(NBN):c.37+8C>G
NM_002485.5(NBN):c.37+8C>T rs1554569655
NM_002485.5(NBN):c.375A>G (p.Lys125=) rs1554567977
NM_002485.5(NBN):c.378T>G (p.Thr126=) rs1586107111
NM_002485.5(NBN):c.38-10T>C rs556807466
NM_002485.5(NBN):c.38-10_38-9dup rs2129926374
NM_002485.5(NBN):c.38-11A>T rs770165601
NM_002485.5(NBN):c.38-11_38-10del rs1812142541
NM_002485.5(NBN):c.38-12A>C
NM_002485.5(NBN):c.38-13A>T
NM_002485.5(NBN):c.38-14A>C
NM_002485.5(NBN):c.38-14A>T
NM_002485.5(NBN):c.38-14_38-11del rs752004731
NM_002485.5(NBN):c.38-15A>C
NM_002485.5(NBN):c.38-19A>G rs766849651
NM_002485.5(NBN):c.38-4T>C
NM_002485.5(NBN):c.38-6T>C rs2129926315
NM_002485.5(NBN):c.38-7A>T
NM_002485.5(NBN):c.38-8T>A rs62531987
NM_002485.5(NBN):c.38-9T>G rs191514058
NM_002485.5(NBN):c.393T>C (p.Ala131=)
NM_002485.5(NBN):c.393T>G (p.Ala131=) rs372061224
NM_002485.5(NBN):c.396A>G (p.Ile132Met) rs1060503462
NM_002485.5(NBN):c.396A>T (p.Ile132=) rs1060503462
NM_002485.5(NBN):c.397T>C (p.Leu133=) rs1229464840
NM_002485.5(NBN):c.399G>A (p.Leu133=) rs2129909551
NM_002485.5(NBN):c.39A>C (p.Gly13=) rs876660470
NM_002485.5(NBN):c.39A>G (p.Gly13=) rs876660470
NM_002485.5(NBN):c.402A>G (p.Gln134=) rs2129909448
NM_002485.5(NBN):c.405T>G (p.Leu135=) rs1554567937
NM_002485.5(NBN):c.411A>T (p.Gly137=)
NM_002485.5(NBN):c.414T>C (p.Phe138=) rs1554567933
NM_002485.5(NBN):c.417T>C (p.Thr139=) rs760586161
NM_002485.5(NBN):c.42A>G (p.Glu14=) rs957561936
NM_002485.5(NBN):c.432A>C (p.Thr144=) rs886043003
NM_002485.5(NBN):c.438A>G (p.Glu146=) rs2129908816
NM_002485.5(NBN):c.447C>T (p.His149=) rs868089138
NM_002485.5(NBN):c.453C>T (p.Val151=) rs1176879721
NM_002485.5(NBN):c.456G>T (p.Met152Ile)
NM_002485.5(NBN):c.459A>C (p.Val153=) rs566630862
NM_002485.5(NBN):c.459A>G (p.Val153=) rs566630862
NM_002485.5(NBN):c.45A>C (p.Pro15=) rs577332041
NM_002485.5(NBN):c.462A>G (p.Ser154=) rs1214415718
NM_002485.5(NBN):c.462A>T (p.Ser154=) rs1214415718
NM_002485.5(NBN):c.468A>G (p.Lys156=)
NM_002485.5(NBN):c.471T>C (p.Val157=) rs864622275
NM_002485.5(NBN):c.471T>G (p.Val157=) rs864622275
NM_002485.5(NBN):c.480+10A>G rs878854512
NM_002485.5(NBN):c.480+10del rs1812019032
NM_002485.5(NBN):c.480+12G>A rs755689211
NM_002485.5(NBN):c.480+14C>A
NM_002485.5(NBN):c.480+14C>G
NM_002485.5(NBN):c.480+15T>C rs1554567838
NM_002485.5(NBN):c.480+18T>A
NM_002485.5(NBN):c.480+7T>C rs1554567841
NM_002485.5(NBN):c.480+7T>G rs1554567841
NM_002485.5(NBN):c.480+8G>A rs777117690
NM_002485.5(NBN):c.480+8G>T
NM_002485.5(NBN):c.480+9A>G
NM_002485.5(NBN):c.481-11C>T rs2129890419
NM_002485.5(NBN):c.481-17T>C
NM_002485.5(NBN):c.481-18A>T
NM_002485.5(NBN):c.481-5T>C rs2129890359
NM_002485.5(NBN):c.481-7A>C rs2129890380
NM_002485.5(NBN):c.481-7A>G rs2129890380
NM_002485.5(NBN):c.483A>C (p.Thr161=)
NM_002485.5(NBN):c.48C>T (p.Tyr16=) rs2129926091
NM_002485.5(NBN):c.492A>G (p.Ala164=) rs765493509
NM_002485.5(NBN):c.495C>A (p.Leu165=)
NM_002485.5(NBN):c.495C>T (p.Leu165=) rs764290829
NM_002485.5(NBN):c.498T>C (p.Ile166=)
NM_002485.5(NBN):c.504A>C (p.Gly168=) rs1057521464
NM_002485.5(NBN):c.504A>G (p.Gly168=) rs1057521464
NM_002485.5(NBN):c.504A>T (p.Gly168=)
NM_002485.5(NBN):c.516A>G (p.Val172=) rs2129889397
NM_002485.5(NBN):c.51A>G (p.Arg17=)
NM_002485.5(NBN):c.528T>C (p.Tyr176=) rs2129889177
NM_002485.5(NBN):c.534T>A (p.Thr178=) rs2129888979
NM_002485.5(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_002485.5(NBN):c.541C>T (p.Leu181=) rs1060504930
NM_002485.5(NBN):c.543G>A (p.Leu181=) rs876660833
NM_002485.5(NBN):c.549A>G (p.Ala183=) rs780661058
NM_002485.5(NBN):c.55T>C (p.Leu19=) rs1586112097
NM_002485.5(NBN):c.570T>A (p.Pro190=)
NM_002485.5(NBN):c.570T>C (p.Pro190=) rs1811863524
NM_002485.5(NBN):c.576A>G (p.Gln192=) rs2129887922
NM_002485.5(NBN):c.579T>C (p.Ile193=)
NM_002485.5(NBN):c.582A>G (p.Glu194=) rs2129887820
NM_002485.5(NBN):c.584+10G>A rs780093985
NM_002485.5(NBN):c.584+14T>G
NM_002485.5(NBN):c.584+15T>G
NM_002485.5(NBN):c.584+17A>G
NM_002485.5(NBN):c.584+19A>T rs1187374555
NM_002485.5(NBN):c.584+20T>C rs2129887517
NM_002485.5(NBN):c.584+6T>C rs1554566602
NM_002485.5(NBN):c.584+7T>A rs1057523869
NM_002485.5(NBN):c.584+7_584+9del rs1586101102
NM_002485.5(NBN):c.584+8A>G rs1554566597
NM_002485.5(NBN):c.584+8A>T
NM_002485.5(NBN):c.584+9T>A rs746913991
NM_002485.5(NBN):c.585-13A>G rs980972703
NM_002485.5(NBN):c.585-16T>A rs2129840149
NM_002485.5(NBN):c.585-18C>T rs1811509460
NM_002485.5(NBN):c.585-18del
NM_002485.5(NBN):c.585-20T>C rs1162395270
NM_002485.5(NBN):c.585-5T>A rs1586088968
NM_002485.5(NBN):c.585-7T>C
NM_002485.5(NBN):c.591C>T (p.Tyr197=)
NM_002485.5(NBN):c.606A>G (p.Glu202=) rs1554564292
NM_002485.5(NBN):c.609A>G (p.Pro203=) rs778083915
NM_002485.5(NBN):c.60T>C (p.Thr20=)
NM_002485.5(NBN):c.615T>C (p.Ile205=) rs2129839117
NM_002485.5(NBN):c.618A>G (p.Gly206=) rs1554564281
NM_002485.5(NBN):c.630T>A (p.Val210=) rs2129838835
NM_002485.5(NBN):c.630T>C (p.Val210=)
NM_002485.5(NBN):c.633T>C (p.Asp211=) rs377700348
NM_002485.5(NBN):c.636G>A (p.Leu212=)
NM_002485.5(NBN):c.636G>C (p.Leu212=) rs1811504066
NM_002485.5(NBN):c.639A>C (p.Ser213=) rs1335414652
NM_002485.5(NBN):c.63C>A (p.Gly21=)
NM_002485.5(NBN):c.63C>G (p.Gly21=)
NM_002485.5(NBN):c.63C>T (p.Gly21=) rs1064795458
NM_002485.5(NBN):c.642A>G (p.Gly214=) rs763363235
NM_002485.5(NBN):c.645G>T (p.Arg215=) rs2129838464
NM_002485.5(NBN):c.648G>A (p.Gln216=) rs786201883
NM_002485.5(NBN):c.654A>G (p.Arg218=)
NM_002485.5(NBN):c.672G>A (p.Gly224=) rs1554564220
NM_002485.5(NBN):c.675A>G (p.Lys225=) rs2129837838
NM_002485.5(NBN):c.678A>G (p.Thr226=) rs878854513
NM_002485.5(NBN):c.690G>A (p.Leu230=) rs2129837575
NM_002485.5(NBN):c.693T>C (p.Asn231=) rs878854514
NM_002485.5(NBN):c.702+13T>A
NM_002485.5(NBN):c.702+16_702+17delinsAA rs2129836999
NM_002485.5(NBN):c.702+7A>C rs864622602
NM_002485.5(NBN):c.702+7A>G rs864622602
NM_002485.5(NBN):c.702+8T>C rs1563561325
NM_002485.5(NBN):c.702+8T>G
NM_002485.5(NBN):c.702+9_702+13del
NM_002485.5(NBN):c.703-12T>A
NM_002485.5(NBN):c.703-13C>A rs2129832119
NM_002485.5(NBN):c.703-13C>T rs2129832119
NM_002485.5(NBN):c.703-17T>A
NM_002485.5(NBN):c.703-3T>C rs876659566
NM_002485.5(NBN):c.703-4T>C rs2129832051
NM_002485.5(NBN):c.703-7T>C
NM_002485.5(NBN):c.703-8A>T rs1563560271
NM_002485.5(NBN):c.703-9C>T rs1586087235
NM_002485.5(NBN):c.703-9del
NM_002485.5(NBN):c.711A>G (p.Lys237=)
NM_002485.5(NBN):c.712T>C (p.Leu238=) rs748400884
NM_002485.5(NBN):c.723A>C (p.Ala241=) rs1554564031
NM_002485.5(NBN):c.729C>G (p.Val243=)
NM_002485.5(NBN):c.729C>T (p.Val243=)
NM_002485.5(NBN):c.738T>C (p.Gly246=) rs2129830935
NM_002485.5(NBN):c.741G>A (p.Gly247=) rs747021126
NM_002485.5(NBN):c.744A>G (p.Glu248=) rs1554564012
NM_002485.5(NBN):c.747T>A (p.Ala249=) rs780134747
NM_002485.5(NBN):c.750G>A (p.Arg250=) rs758852942
NM_002485.5(NBN):c.751T>C (p.Leu251=) rs1811463703
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.5(NBN):c.762A>G (p.Glu254=)
NM_002485.5(NBN):c.765G>A (p.Glu255=)
NM_002485.5(NBN):c.774A>G (p.Glu258=) rs1586086940
NM_002485.5(NBN):c.783T>C (p.Asn261=) rs375336614
NM_002485.5(NBN):c.790T>C (p.Leu264=) rs2129829667
NM_002485.5(NBN):c.798G>T (p.Pro266=) rs368786672
NM_002485.5(NBN):c.804G>C (p.Thr268=) rs141443872
NM_002485.5(NBN):c.804G>T (p.Thr268=) rs141443872
NM_002485.5(NBN):c.813T>C (p.Val271=) rs1811458034
NM_002485.5(NBN):c.816T>C (p.Asp272=) rs1811457608
NM_002485.5(NBN):c.819A>G (p.Thr273=) rs147660518
NM_002485.5(NBN):c.822A>C (p.Gly274=) rs1270883453
NM_002485.5(NBN):c.822A>G (p.Gly274=) rs1270883453
NM_002485.5(NBN):c.831C>T (p.Asn277=)
NM_002485.5(NBN):c.834A>T (p.Ser278=) rs2129828382
NM_002485.5(NBN):c.837G>A (p.Gln279=) rs896641519
NM_002485.5(NBN):c.840C>T (p.Thr280=) rs876659147
NM_002485.5(NBN):c.843A>G (p.Leu281=) rs1586086525
NM_002485.5(NBN):c.855T>C (p.Cys285=)
NM_002485.5(NBN):c.864A>G (p.Lys288=) rs1554563842
NM_002485.5(NBN):c.873G>A (p.Gln291=) rs786202939
NM_002485.5(NBN):c.876A>C (p.Ser292=) rs2129827371
NM_002485.5(NBN):c.876A>G (p.Ser292=)
NM_002485.5(NBN):c.885T>C (p.Asp295=) rs2129827145
NM_002485.5(NBN):c.891C>T (p.Leu297=) rs1554563793
NM_002485.5(NBN):c.894A>G (p.Gln298=)
NM_002485.5(NBN):c.896+10dup rs763938484
NM_002485.5(NBN):c.896+12T>C
NM_002485.5(NBN):c.896+13T>C rs376695206
NM_002485.5(NBN):c.896+17del
NM_002485.5(NBN):c.896+18A>G
NM_002485.5(NBN):c.896+19T>C
NM_002485.5(NBN):c.896+6G>A rs1811448021
NM_002485.5(NBN):c.896+7A>G rs1060504926
NM_002485.5(NBN):c.896+7_896+12dup
NM_002485.5(NBN):c.896+8A>G rs2129826754
NM_002485.5(NBN):c.897-10A>G rs1563549139
NM_002485.5(NBN):c.897-10A>T
NM_002485.5(NBN):c.897-12T>C
NM_002485.5(NBN):c.897-14T>C rs2129787557
NM_002485.5(NBN):c.897-16T>C
NM_002485.5(NBN):c.897-17C>A
NM_002485.5(NBN):c.897-17C>T
NM_002485.5(NBN):c.897-18dup rs957902993
NM_002485.5(NBN):c.897-19_897-15del
NM_002485.5(NBN):c.897-23_897-20del rs2129787608
NM_002485.5(NBN):c.897-5A>C
NM_002485.5(NBN):c.897-5A>G rs1586076321
NM_002485.5(NBN):c.897-7del rs2129787510
NM_002485.5(NBN):c.897-8T>C rs2129787526
NM_002485.5(NBN):c.900A>G (p.Gln300=) rs1811152792
NM_002485.5(NBN):c.906T>C (p.Leu302=) rs2129787176
NM_002485.5(NBN):c.921A>G (p.Glu307=) rs1554562180
NM_002485.5(NBN):c.924A>G (p.Ala308=) rs1554562173
NM_002485.5(NBN):c.927A>G (p.Glu309=)
NM_002485.5(NBN):c.930T>C (p.Ile310=) rs142813526
NM_002485.5(NBN):c.933A>T (p.Gly311=) rs2129786626
NM_002485.5(NBN):c.934T>C (p.Leu312=) rs1811149387
NM_002485.5(NBN):c.939G>T (p.Ala313=) rs145750430
NM_002485.5(NBN):c.942G>A (p.Val314=) rs749757928
NM_002485.5(NBN):c.942G>C (p.Val314=) rs749757928
NM_002485.5(NBN):c.948C>T (p.Phe316=) rs1429467104
NM_002485.5(NBN):c.954T>C (p.Thr318=) rs1554562137
NM_002485.5(NBN):c.960G>A (p.Lys320=) rs1554562125
NM_002485.5(NBN):c.969T>C (p.Cys323=) rs773860553
NM_002485.5(NBN):c.975T>G (p.Pro325=) rs2129785634
NM_002485.5(NBN):c.978G>A (p.Gln326=)
NM_002485.5(NBN):c.987C>G (p.Pro329=)
NM_002485.5(NBN):c.987C>T (p.Pro329=) rs1586075751
NM_002485.5(NBN):c.994+14T>C
NM_002485.5(NBN):c.994+16T>C
NM_002485.5(NBN):c.994+7G>T rs2129785123
NM_002485.5(NBN):c.994+8A>T rs2129785103
NM_002485.5(NBN):c.995-13G>A rs1329972460
NM_002485.5(NBN):c.995-13G>C rs1329972460
NM_002485.5(NBN):c.995-14T>C rs1563539369
NM_002485.5(NBN):c.995-19C>A rs2129747549
NM_002485.5(NBN):c.995-19C>G
NM_002485.5(NBN):c.995-20T>C rs1810861105
NM_002485.5(NBN):c.995-29TTCT[2]
NM_002485.5(NBN):c.995-4A>G rs2129747280
NM_002485.5(NBN):c.995-5T>C rs2129747292
NM_002485.5(NBN):c.995-6T>G
NM_002485.5(NBN):c.995-8A>C rs2129747346
NM_002485.5(NBN):c.995-9G>A rs1586066252
NM_002485.5(NBN):c.995-9G>T
NM_002485.5(NBN):c.996A>G (p.Gly332=) rs2129747152
NM_002485.5(NBN):c.999A>G (p.Leu333=)
NM_002485.5(NBN):c.99T>A (p.Ile33=) rs1172365532
NM_002485.5(NBN):c.9A>G (p.Lys3=)

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