ClinVar Miner

List of variants in gene NEBL studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 576
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HGVS dbSNP gnomAD frequency
NM_006393.3(NEBL):c.1008+5A>G rs703089 0.98186
NM_006393.3(NEBL):c.1671+9T>C rs10491056 0.42572
NM_006393.3(NEBL):c.2031G>A (p.Arg677=) rs1006363 0.22278
NM_006393.3(NEBL):c.2997A>G (p.Thr999=) rs2296614 0.08806
NM_006393.3(NEBL):c.1051A>G (p.Met351Val) rs4025981 0.05741
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys) rs4748728 0.05648
NM_006393.3(NEBL):c.1132G>C (p.Asp378His) rs41277370 0.05503
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp) rs2296610 0.01272
NM_213569.2(NEBL):c.-7C>T rs141707642 0.00974
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg) rs71578975 0.00786
NM_213569.2(NEBL):c.357T>C (p.Asn119=) rs115708584 0.00662
NM_006393.3(NEBL):c.1008+4C>T rs71534253 0.00540
NM_006393.3(NEBL):c.1117-6T>G rs71578938 0.00538
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val) rs79718972 0.00532
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858 0.00501
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_006393.3(NEBL):c.1450-9T>G rs45628140 0.00280
NM_006393.3(NEBL):c.2149-5G>A rs71578956 0.00272
NM_006393.3(NEBL):c.154-11C>A rs41277376 0.00252
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663 0.00231
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883 0.00213
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00204
NM_006393.3(NEBL):c.1869+8C>G rs188529864 0.00182
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_006393.3(NEBL):c.2685C>T (p.Asp895=) rs140245727 0.00135
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val) rs143930021 0.00132
NM_006393.3(NEBL):c.624C>T (p.Pro208=) rs111854914 0.00106
NM_006393.3(NEBL):c.994G>A (p.Val332Ile) rs150518045 0.00066
NM_006393.3(NEBL):c.1008+8C>G rs376842299 0.00054
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val) rs146218038 0.00051
NM_006393.3(NEBL):c.-47C>T rs368463931 0.00047
NM_006393.3(NEBL):c.1962+7A>G rs371630900 0.00034
NM_006393.3(NEBL):c.1728T>C (p.Asp576=) rs1528182 0.00029
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu) rs143644290 0.00029
NM_006393.3(NEBL):c.827T>C (p.Met276Thr) rs141285752 0.00027
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) rs146198369 0.00022
NM_006393.3(NEBL):c.1449+14G>A rs373699154 0.00022
NM_006393.3(NEBL):c.2964C>T (p.Asp988=) rs144946187 0.00022
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met) rs202112717 0.00021
NM_006393.3(NEBL):c.2673A>G (p.Thr891=) rs202127185 0.00021
NM_006393.3(NEBL):c.82-4A>G rs368268112 0.00021
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273 0.00020
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter) rs146471913 0.00019
NM_006393.3(NEBL):c.2724A>T (p.Ser908=) rs146673676 0.00019
NM_006393.3(NEBL):c.369+5G>A rs200249470 0.00019
NM_006393.3(NEBL):c.69T>C (p.Asn23=) rs746405718 0.00018
NM_006393.3(NEBL):c.14T>C (p.Val5Ala) rs145770601 0.00017
NM_006393.3(NEBL):c.2307T>C (p.Ala769=) rs144815863 0.00017
NM_006393.3(NEBL):c.258+1G>A rs139581346 0.00016
NM_006393.3(NEBL):c.2775C>T (p.Pro925=) rs199887353 0.00015
NM_006393.3(NEBL):c.2913C>T (p.Asp971=) rs575423101 0.00015
NM_006393.3(NEBL):c.109_110del (p.Leu37fs) rs762005342 0.00014
NM_006393.3(NEBL):c.240C>T (p.Ile80=) rs727503337 0.00014
NM_006393.3(NEBL):c.480+11G>A rs769167750 0.00014
NM_006393.3(NEBL):c.489T>C (p.Tyr163=) rs141153708 0.00014
NM_006393.3(NEBL):c.2868+9C>T rs377236750 0.00012
NM_006393.3(NEBL):c.1008+14C>T rs369037243 0.00011
NM_006393.3(NEBL):c.214C>A (p.Pro72Thr) rs150000482 0.00011
NM_213569.2(NEBL):c.69+15G>T rs377648518 0.00011
NM_006393.3(NEBL):c.2344A>G (p.Met782Val) rs200574474 0.00010
NM_006393.3(NEBL):c.2848A>G (p.Met950Val) rs201838351 0.00010
NM_213569.2(NEBL):c.165-6C>G rs201869237 0.00010
NM_006393.3(NEBL):c.120A>G (p.Glu40=) rs397517203 0.00009
NM_006393.3(NEBL):c.1652C>T (p.Thr551Ile) rs191012363 0.00009
NM_006393.3(NEBL):c.1870G>C (p.Val624Leu) rs186851083 0.00009
NM_006393.3(NEBL):c.2820C>T (p.His940=) rs532565487 0.00009
NM_006393.3(NEBL):c.2889C>T (p.Tyr963=) rs202184399 0.00009
NM_006393.3(NEBL):c.537A>G (p.Arg179=) rs562815398 0.00009
NM_006393.3(NEBL):c.582+9T>C rs185873503 0.00009
NM_213569.2(NEBL):c.305C>T (p.Thr102Met) rs377492976 0.00009
NM_213569.2(NEBL):c.31G>C (p.Val11Leu) rs371100252 0.00009
NM_006393.3(NEBL):c.2619G>A (p.Ala873=) rs140803920 0.00008
NM_006393.3(NEBL):c.1366A>G (p.Ile456Val) rs144402571 0.00007
NM_006393.3(NEBL):c.259-13T>G rs923819811 0.00007
NM_006393.3(NEBL):c.2612-11C>T rs200934881 0.00007
NM_213569.2(NEBL):c.204A>T (p.Thr68=) rs563150056 0.00007
NM_006393.3(NEBL):c.1116+17G>C rs370094745 0.00006
NM_006393.3(NEBL):c.1225G>A (p.Glu409Lys) rs767565380 0.00006
NM_006393.3(NEBL):c.1272A>G (p.Gly424=) rs727504866 0.00006
NM_006393.3(NEBL):c.1339-20T>C rs370957821 0.00006
NM_006393.3(NEBL):c.1721T>C (p.Ile574Thr) rs754884291 0.00006
NM_006393.3(NEBL):c.1776+15C>G rs373748632 0.00006
NM_006393.3(NEBL):c.1878C>T (p.Tyr626=) rs551329782 0.00006
NM_006393.3(NEBL):c.2346+6G>A rs201822024 0.00006
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile) rs367986765 0.00006
NM_006393.3(NEBL):c.367G>A (p.Glu123Lys) rs189440246 0.00006
NM_006393.3(NEBL):c.740A>G (p.Asn247Ser) rs147901148 0.00006
NM_006393.3(NEBL):c.777T>G (p.Leu259=) rs377624818 0.00006
NM_006393.3(NEBL):c.1077A>G (p.Ser359=) rs776764153 0.00005
NM_006393.3(NEBL):c.1671+12A>C rs77445663 0.00005
NM_006393.3(NEBL):c.1833C>T (p.Ile611=) rs747672592 0.00005
NM_006393.3(NEBL):c.1893A>G (p.Lys631=) rs532807680 0.00005
NM_006393.3(NEBL):c.2346+19A>G rs376097780 0.00005
NM_006393.3(NEBL):c.2406C>T (p.Asp802=) rs748203517 0.00005
NM_006393.3(NEBL):c.241G>A (p.Gly81Ser) rs369862013 0.00005
NM_006393.3(NEBL):c.2445G>A (p.Val815=) rs578252294 0.00005
NM_006393.3(NEBL):c.2748G>A (p.Pro916=) rs778128527 0.00005
NM_006393.3(NEBL):c.2761+15C>T rs760162209 0.00005
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu) rs727503338 0.00005
NM_006393.3(NEBL):c.993C>T (p.Ala331=) rs375117092 0.00005
NM_006393.3(NEBL):c.1008+15G>A rs375728589 0.00004
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser) rs375569591 0.00004
NM_006393.3(NEBL):c.1316G>A (p.Arg439Gln) rs755916272 0.00004
NM_006393.3(NEBL):c.158G>A (p.Arg53His) rs1472255941 0.00004
NM_006393.3(NEBL):c.1667G>C (p.Ser556Thr) rs373244101 0.00004
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe) rs543765307 0.00004
NM_006393.3(NEBL):c.1834G>A (p.Glu612Lys) rs778658096 0.00004
NM_006393.3(NEBL):c.1997C>T (p.Pro666Leu) rs771905060 0.00004
NM_006393.3(NEBL):c.2006T>C (p.Met669Thr) rs375197621 0.00004
NM_006393.3(NEBL):c.2012C>T (p.Pro671Leu) rs770107953 0.00004
NM_006393.3(NEBL):c.201T>C (p.Phe67=) rs962189496 0.00004
NM_006393.3(NEBL):c.2190T>C (p.Ser730=) rs371975934 0.00004
NM_006393.3(NEBL):c.2347-9C>T rs750957531 0.00004
NM_006393.3(NEBL):c.2518+14G>A rs551568597 0.00004
NM_006393.3(NEBL):c.2518+20C>T rs755901579 0.00004
NM_006393.3(NEBL):c.2718C>A (p.Ser906Arg) rs768402237 0.00004
NM_006393.3(NEBL):c.2943C>T (p.Ile981=) rs201105598 0.00004
NM_006393.3(NEBL):c.561G>C (p.Gln187His) rs75301590 0.00004
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr) rs142138590 0.00004
NM_006393.3(NEBL):c.792G>A (p.Ala264=) rs375771045 0.00004
NM_006393.3(NEBL):c.815A>G (p.Asp272Gly) rs778861859 0.00004
NM_006393.3(NEBL):c.903C>T (p.Gly301=) rs200799762 0.00004
NM_006393.3(NEBL):c.-50G>T rs1426428551 0.00003
NM_006393.3(NEBL):c.113G>T (p.Ser38Ile) rs375265257 0.00003
NM_006393.3(NEBL):c.1457A>G (p.Tyr486Cys) rs200177229 0.00003
NM_006393.3(NEBL):c.153+15T>G rs397517204 0.00003
NM_006393.3(NEBL):c.154A>G (p.Ile52Val) rs762385273 0.00003
NM_006393.3(NEBL):c.1723G>A (p.Ala575Thr) rs150413689 0.00003
NM_006393.3(NEBL):c.1776+18C>G rs373474665 0.00003
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu) rs200756166 0.00003
NM_006393.3(NEBL):c.1987A>C (p.Lys663Gln) rs751064460 0.00003
NM_006393.3(NEBL):c.2013G>A (p.Pro671=) rs781677922 0.00003
NM_006393.3(NEBL):c.218T>C (p.Met73Thr) rs374218451 0.00003
NM_006393.3(NEBL):c.2301A>T (p.Thr767=) rs762555413 0.00003
NM_006393.3(NEBL):c.2401G>A (p.Val801Met) rs772136984 0.00003
NM_006393.3(NEBL):c.250A>T (p.Ile84Phe) rs759094054 0.00003
NM_006393.3(NEBL):c.2529T>G (p.Val843=) rs199821922 0.00003
NM_006393.3(NEBL):c.2547C>T (p.Gly849=) rs180850975 0.00003
NM_006393.3(NEBL):c.2599C>T (p.His867Tyr) rs753961523 0.00003
NM_006393.3(NEBL):c.2667C>T (p.Phe889=) rs780103943 0.00003
NM_006393.3(NEBL):c.2841G>A (p.Met947Ile) rs745574506 0.00003
NM_006393.3(NEBL):c.498C>T (p.Asp166=) rs371105861 0.00003
NM_006393.3(NEBL):c.536G>A (p.Arg179Gln) rs750476653 0.00003
NM_006393.3(NEBL):c.57G>C (p.Gly19=) rs764290131 0.00003
NM_006393.3(NEBL):c.670A>G (p.Lys224Glu) rs148079637 0.00003
NM_006393.3(NEBL):c.721G>A (p.Asp241Asn) rs372364915 0.00003
NM_006393.3(NEBL):c.795C>G (p.Ser265Arg) rs368513995 0.00003
NM_213569.2(NEBL):c.125A>G (p.Asn42Ser) rs727503340 0.00003
NM_006393.3(NEBL):c.*4T>A rs727504947 0.00002
NM_006393.3(NEBL):c.1110A>C (p.Gln370His) rs1267119039 0.00002
NM_006393.3(NEBL):c.1228-7C>T rs200231082 0.00002
NM_006393.3(NEBL):c.161A>G (p.Tyr54Cys) rs145025995 0.00002
NM_006393.3(NEBL):c.16T>C (p.Phe6Leu) rs777445403 0.00002
NM_006393.3(NEBL):c.1963-13C>T rs727504904 0.00002
NM_006393.3(NEBL):c.2043G>A (p.Glu681=) rs763968575 0.00002
NM_006393.3(NEBL):c.2044C>T (p.Gln682Ter) rs763512999 0.00002
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala) rs780384504 0.00002
NM_006393.3(NEBL):c.2267A>C (p.Gln756Pro) rs1043619687 0.00002
NM_006393.3(NEBL):c.2273A>G (p.Lys758Arg) rs375635703 0.00002
NM_006393.3(NEBL):c.2310G>A (p.Met770Ile) rs200334335 0.00002
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter) rs752922937 0.00002
NM_006393.3(NEBL):c.2395C>T (p.Pro799Ser) rs566320226 0.00002
NM_006393.3(NEBL):c.2397C>T (p.Pro799=) rs766216481 0.00002
NM_006393.3(NEBL):c.2412T>C (p.Pro804=) rs749572741 0.00002
NM_006393.3(NEBL):c.2485G>A (p.Val829Met) rs727504979 0.00002
NM_006393.3(NEBL):c.2623C>A (p.His875Asn) rs1025119284 0.00002
NM_006393.3(NEBL):c.2645G>A (p.Arg882Gln) rs758877499 0.00002
NM_006393.3(NEBL):c.2757A>G (p.Glu919=) rs878854903 0.00002
NM_006393.3(NEBL):c.2890G>A (p.Asp964Asn) rs746529858 0.00002
NM_006393.3(NEBL):c.3021G>A (p.Ala1007=) rs757304354 0.00002
NM_006393.3(NEBL):c.455T>C (p.Met152Thr) rs746638649 0.00002
NM_006393.3(NEBL):c.571A>T (p.Ile191Phe) rs746403443 0.00002
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala) rs727503336 0.00002
NM_006393.3(NEBL):c.807C>G (p.Tyr269Ter) rs748781067 0.00002
NM_006393.3(NEBL):c.905G>A (p.Arg302Gln) rs372726051 0.00002
NM_006393.3(NEBL):c.-9A>G rs772236141 0.00001
NM_006393.3(NEBL):c.1003A>C (p.Ser335Arg) rs771769135 0.00001
NM_006393.3(NEBL):c.1033A>G (p.Lys345Glu) rs1842399389 0.00001
NM_006393.3(NEBL):c.1071A>G (p.Thr357=) rs759498064 0.00001
NM_006393.3(NEBL):c.1074A>G (p.Pro358=) rs1180113998 0.00001
NM_006393.3(NEBL):c.1130A>G (p.Glu377Gly) rs373129570 0.00001
NM_006393.3(NEBL):c.1144G>A (p.Glu382Lys) rs749629919 0.00001
NM_006393.3(NEBL):c.1194A>G (p.Leu398=) rs1841798713 0.00001
NM_006393.3(NEBL):c.1198G>A (p.Val400Ile) rs1436278860 0.00001
NM_006393.3(NEBL):c.1207A>G (p.Ile403Val) rs200534792 0.00001
NM_006393.3(NEBL):c.1208T>C (p.Ile403Thr) rs766378863 0.00001
NM_006393.3(NEBL):c.1232A>C (p.Glu411Ala) rs753584108 0.00001
NM_006393.3(NEBL):c.1234T>A (p.Tyr412Asn) rs1349601521 0.00001
NM_006393.3(NEBL):c.1244A>C (p.Asp415Ala) rs766254363 0.00001
NM_006393.3(NEBL):c.1246T>G (p.Leu416Val) rs1473800986 0.00001
NM_006393.3(NEBL):c.1252A>G (p.Asn418Asp) rs1295436667 0.00001
NM_006393.3(NEBL):c.1279C>G (p.Leu427Val) rs770142870 0.00001
NM_006393.3(NEBL):c.1287A>C (p.Ser429=) rs759895408 0.00001
NM_006393.3(NEBL):c.1307G>A (p.Arg436Lys) rs1477559434 0.00001
NM_006393.3(NEBL):c.1319C>A (p.Ala440Asp) rs1284618007 0.00001
NM_006393.3(NEBL):c.1332A>C (p.Ala444=) rs750268422 0.00001
NM_006393.3(NEBL):c.1339-11G>A rs777696844 0.00001
NM_006393.3(NEBL):c.1346A>G (p.Tyr449Cys) rs535927510 0.00001
NM_006393.3(NEBL):c.1347C>T (p.Tyr449=) rs765401440 0.00001
NM_006393.3(NEBL):c.1367T>C (p.Ile456Thr) rs761169055 0.00001
NM_006393.3(NEBL):c.137C>T (p.Thr46Met) rs758542974 0.00001
NM_006393.3(NEBL):c.1398T>C (p.Thr466=) rs1182619125 0.00001
NM_006393.3(NEBL):c.1416G>T (p.Gln472His) rs1464910693 0.00001
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val) rs1237891829 0.00001
NM_006393.3(NEBL):c.1447G>A (p.Glu483Lys) rs755141650 0.00001
NM_006393.3(NEBL):c.1461A>C (p.Lys487Asn) rs764678922 0.00001
NM_006393.3(NEBL):c.1466A>T (p.Asp489Val) rs753415890 0.00001
NM_006393.3(NEBL):c.149G>A (p.Ser50Asn) rs1207801626 0.00001
NM_006393.3(NEBL):c.1518T>C (p.Leu506=) rs1184309799 0.00001
NM_006393.3(NEBL):c.1541C>T (p.Ala514Val) rs1256153819 0.00001
NM_006393.3(NEBL):c.1545C>T (p.Ser515=) rs1001767826 0.00001
NM_006393.3(NEBL):c.157C>T (p.Arg53Cys) rs759216770 0.00001
NM_006393.3(NEBL):c.1602A>G (p.Lys534=) rs1840386584 0.00001
NM_006393.3(NEBL):c.1608G>T (p.Met536Ile) rs794729078 0.00001
NM_006393.3(NEBL):c.1611A>C (p.Gln537His) rs865956162 0.00001
NM_006393.3(NEBL):c.1613T>A (p.Val538Glu) rs534382445 0.00001
NM_006393.3(NEBL):c.1617del (p.Ser539fs) rs727504917 0.00001
NM_006393.3(NEBL):c.1621G>T (p.Asp541Tyr) rs922495834 0.00001
NM_006393.3(NEBL):c.1732C>T (p.Pro578Ser) rs767675377 0.00001
NM_006393.3(NEBL):c.1764A>T (p.Gln588His) rs112545336 0.00001
NM_006393.3(NEBL):c.1778T>C (p.Val593Ala) rs763267239 0.00001
NM_006393.3(NEBL):c.1810G>A (p.Ala604Thr) rs1367114613 0.00001
NM_006393.3(NEBL):c.1826C>G (p.Pro609Arg) rs942030467 0.00001
NM_006393.3(NEBL):c.187G>A (p.Asp63Asn) rs1307043925 0.00001
NM_006393.3(NEBL):c.1895A>G (p.His632Arg) rs763630411 0.00001
NM_006393.3(NEBL):c.1904C>T (p.Ala635Val) rs727503335 0.00001
NM_006393.3(NEBL):c.1942A>C (p.Asn648His) rs1256851317 0.00001
NM_006393.3(NEBL):c.1961A>T (p.Asn654Ile) rs1839521789 0.00001
NM_006393.3(NEBL):c.1993A>C (p.Thr665Pro) rs936216558 0.00001
NM_006393.3(NEBL):c.1994C>T (p.Thr665Ile) rs760424917 0.00001
NM_006393.3(NEBL):c.1996C>T (p.Pro666Ser) rs772963438 0.00001
NM_006393.3(NEBL):c.2010C>T (p.Thr670=) rs1445378269 0.00001
NM_006393.3(NEBL):c.2016G>A (p.Glu672=) rs757626106 0.00001
NM_006393.3(NEBL):c.2033G>A (p.Arg678Gln) rs774294999 0.00001
NM_006393.3(NEBL):c.2050A>C (p.Ser684Arg) rs1270239939 0.00001
NM_006393.3(NEBL):c.2151T>C (p.Val717=) rs776066812 0.00001
NM_006393.3(NEBL):c.2174G>C (p.Arg725Thr) rs772956028 0.00001
NM_006393.3(NEBL):c.2241+17A>G rs368494211 0.00001
NM_006393.3(NEBL):c.2275G>C (p.Gly759Arg) rs148179937 0.00001
NM_006393.3(NEBL):c.2297A>T (p.Asp766Val) rs1479921102 0.00001
NM_006393.3(NEBL):c.2308A>G (p.Met770Val) rs745738658 0.00001
NM_006393.3(NEBL):c.2315A>T (p.His772Leu) rs770946136 0.00001
NM_006393.3(NEBL):c.2343A>C (p.Ser781=) rs1470960724 0.00001
NM_006393.3(NEBL):c.2358T>C (p.His786=) rs1359473218 0.00001
NM_006393.3(NEBL):c.2370A>G (p.Glu790=) rs1838316388 0.00001
NM_006393.3(NEBL):c.2386G>A (p.Gly796Ser) rs757859244 0.00001
NM_006393.3(NEBL):c.23A>G (p.Asp8Gly) rs758081493 0.00001
NM_006393.3(NEBL):c.2428A>G (p.Arg810Gly) rs746326308 0.00001
NM_006393.3(NEBL):c.2451C>T (p.Ser817=) rs375714953 0.00001
NM_006393.3(NEBL):c.2484C>T (p.Ile828=) rs1315850585 0.00001
NM_006393.3(NEBL):c.2507G>A (p.Gly836Glu) rs768915725 0.00001
NM_006393.3(NEBL):c.2518+10C>T rs747607700 0.00001
NM_006393.3(NEBL):c.255T>C (p.Ser85=) rs727504471 0.00001
NM_006393.3(NEBL):c.2563G>T (p.Asp855Tyr) rs1354870289 0.00001
NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys) rs150152361 0.00001
NM_006393.3(NEBL):c.2602A>G (p.Met868Val) rs908360300 0.00001
NM_006393.3(NEBL):c.2607C>G (p.Leu869=) rs773544548 0.00001
NM_006393.3(NEBL):c.2618C>T (p.Ala873Val) rs776191648 0.00001
NM_006393.3(NEBL):c.2653T>C (p.Ser885Pro) rs768620205 0.00001
NM_006393.3(NEBL):c.2668G>A (p.Gly890Ser) rs756192561 0.00001
NM_006393.3(NEBL):c.2680G>A (p.Gly894Arg) rs757509884 0.00001
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu) rs876657926 0.00001
NM_006393.3(NEBL):c.2684A>C (p.Asp895Ala) rs751930228 0.00001
NM_006393.3(NEBL):c.2686G>A (p.Asp896Asn) rs763508486 0.00001
NM_006393.3(NEBL):c.2699T>A (p.Ile900Asn) rs765927067 0.00001
NM_006393.3(NEBL):c.2725T>C (p.Cys909Arg) rs749985830 0.00001
NM_006393.3(NEBL):c.272G>A (p.Gly91Asp) rs768721125 0.00001
NM_006393.3(NEBL):c.275C>G (p.Thr92Ser) rs1447912777 0.00001
NM_006393.3(NEBL):c.2761G>C (p.Ala921Pro) rs1057518516 0.00001
NM_006393.3(NEBL):c.276C>T (p.Thr92=) rs1256058724 0.00001
NM_006393.3(NEBL):c.2796T>C (p.His932=) rs2491380089 0.00001
NM_006393.3(NEBL):c.2830G>A (p.Val944Met) rs1015724447 0.00001
NM_006393.3(NEBL):c.2897G>T (p.Ser966Ile) rs760526573 0.00001
NM_006393.3(NEBL):c.28A>G (p.Lys10Glu) rs1297711109 0.00001
NM_006393.3(NEBL):c.2903A>G (p.Gln968Arg) rs750379406 0.00001
NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys) rs1554769095 0.00001
NM_006393.3(NEBL):c.2931C>T (p.Asp977=) rs375982678 0.00001
NM_006393.3(NEBL):c.2944G>A (p.Val982Ile) rs867653069 0.00001
NM_006393.3(NEBL):c.2949C>T (p.Asn983=) rs775709930 0.00001
NM_006393.3(NEBL):c.2959A>G (p.Ile987Val) rs746298728 0.00001
NM_006393.3(NEBL):c.2966A>G (p.Asp989Gly) rs771530665 0.00001
NM_006393.3(NEBL):c.2979C>T (p.Tyr993=) rs139156783 0.00001
NM_006393.3(NEBL):c.297T>C (p.Asn99=) rs1363794425 0.00001
NM_006393.3(NEBL):c.2985A>G (p.Thr995=) rs534621300 0.00001
NM_006393.3(NEBL):c.2T>C (p.Met1Thr) rs972622200 0.00001
NM_006393.3(NEBL):c.3028A>G (p.Ile1010Val) rs1400947444 0.00001
NM_006393.3(NEBL):c.340G>T (p.Ala114Ser) rs996144249 0.00001
NM_006393.3(NEBL):c.36A>C (p.Glu12Asp) rs368491819 0.00001
NM_006393.3(NEBL):c.435C>T (p.Pro145=) rs202130632 0.00001
NM_006393.3(NEBL):c.438T>C (p.Pro146=) rs780880217 0.00001
NM_006393.3(NEBL):c.463A>G (p.Asn155Asp) rs1344682606 0.00001
NM_006393.3(NEBL):c.471C>G (p.His157Gln) rs754927300 0.00001
NM_006393.3(NEBL):c.48A>G (p.Glu16=) rs967421212 0.00001
NM_006393.3(NEBL):c.511C>T (p.His171Tyr) rs1844732788 0.00001
NM_006393.3(NEBL):c.516G>A (p.Thr172=) rs143962290 0.00001
NM_006393.3(NEBL):c.528A>G (p.Glu176=) rs149490493 0.00001
NM_006393.3(NEBL):c.611T>C (p.Met204Thr) rs200875519 0.00001
NM_006393.3(NEBL):c.652C>T (p.His218Tyr) rs139016784 0.00001
NM_006393.3(NEBL):c.657C>T (p.Ala219=) rs140943705 0.00001
NM_006393.3(NEBL):c.676T>C (p.Ser226Pro) rs768861339 0.00001
NM_006393.3(NEBL):c.686T>C (p.Ile229Thr) rs774523404 0.00001
NM_006393.3(NEBL):c.729A>T (p.Lys243Asn) rs1268841293 0.00001
NM_006393.3(NEBL):c.738C>T (p.Tyr246=) rs778455217 0.00001
NM_006393.3(NEBL):c.801G>T (p.Val267=) rs1185944637 0.00001
NM_006393.3(NEBL):c.837A>G (p.Pro279=) rs1211641825 0.00001
NM_006393.3(NEBL):c.838G>A (p.Val280Ile) rs1370027424 0.00001
NM_006393.3(NEBL):c.846T>G (p.Asp282Glu) rs1195431616 0.00001
NM_006393.3(NEBL):c.959A>G (p.Asp320Gly) rs1046589298 0.00001
NM_006393.3(NEBL):c.972T>C (p.His324=) rs764659096 0.00001
NM_006393.3(NEBL):c.986G>T (p.Gly329Val) rs776185255 0.00001
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser) rs876657927 0.00001
NM_213569.2(NEBL):c.250-10T>G rs727503339 0.00001
NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del
NM_006393.3(NEBL):c.-20A>G rs766280453
NM_006393.3(NEBL):c.1002A>G (p.Gln334=)
NM_006393.3(NEBL):c.1008+18C>T rs75903914
NM_006393.3(NEBL):c.1008+4_1008+5inv
NM_006393.3(NEBL):c.1009G>T (p.Val337Leu) rs763750199
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys) rs876657925
NM_006393.3(NEBL):c.1037del (p.Asn346fs) rs767349615
NM_006393.3(NEBL):c.1055T>C (p.Leu352Pro) rs2491980896
NM_006393.3(NEBL):c.1067A>G (p.Glu356Gly) rs1842395344
NM_006393.3(NEBL):c.1071A>C (p.Thr357=) rs759498064
NM_006393.3(NEBL):c.1088C>T (p.Ser363Leu) rs747086170
NM_006393.3(NEBL):c.1099C>G (p.Gln367Glu) rs772445046
NM_006393.3(NEBL):c.1108C>G (p.Gln370Glu)
NM_006393.3(NEBL):c.112A>C (p.Ser38Arg)
NM_006393.3(NEBL):c.113G>A (p.Ser38Asn) rs375265257
NM_006393.3(NEBL):c.1156A>G (p.Arg386Gly)
NM_006393.3(NEBL):c.115A>G (p.Met39Val)
NM_006393.3(NEBL):c.1206C>T (p.Tyr402=) rs754740044
NM_006393.3(NEBL):c.1212C>T (p.Thr404=) rs931654806
NM_006393.3(NEBL):c.1216C>T (p.Leu406Phe) rs2491938417
NM_006393.3(NEBL):c.1221G>A (p.Leu407=) rs2131006177
NM_006393.3(NEBL):c.1225G>C (p.Glu409Gln) rs767565380
NM_006393.3(NEBL):c.1243G>A (p.Asp415Asn) rs1015396131
NM_006393.3(NEBL):c.1250A>G (p.Glu417Gly) rs750380902
NM_006393.3(NEBL):c.1269A>G (p.Lys423=) rs138932199
NM_006393.3(NEBL):c.1270G>C (p.Gly424Arg) rs2491889067
NM_006393.3(NEBL):c.1279C>T (p.Leu427Phe) rs770142870
NM_006393.3(NEBL):c.1305A>G (p.Gln435=)
NM_006393.3(NEBL):c.1311A>G (p.Ala437=) rs901799820
NM_006393.3(NEBL):c.1348A>C (p.Lys450Gln) rs2491830324
NM_006393.3(NEBL):c.135C>T (p.Cys45=) rs757156256
NM_006393.3(NEBL):c.136A>G (p.Thr46Ala) rs751607557
NM_006393.3(NEBL):c.1380A>G (p.Lys460=) rs1840801226
NM_006393.3(NEBL):c.1401C>G (p.Asp467Glu) rs769479569
NM_006393.3(NEBL):c.1403C>T (p.Thr468Ile) rs745497796
NM_006393.3(NEBL):c.1427A>C (p.Lys476Thr) rs2491827593
NM_006393.3(NEBL):c.142C>T (p.Leu48Phe)
NM_006393.3(NEBL):c.1434A>G (p.Ala478=) rs2130934253
NM_006393.3(NEBL):c.1442C>A (p.Ala481Glu) rs1237891829
NM_006393.3(NEBL):c.1442C>G (p.Ala481Gly) rs1237891829
NM_006393.3(NEBL):c.1443G>A (p.Ala481=)
NM_006393.3(NEBL):c.144C>T (p.Leu48=) rs1847556443
NM_006393.3(NEBL):c.1460A>G (p.Lys487Arg) rs2130909810
NM_006393.3(NEBL):c.1481T>G (p.Ile494Ser) rs761599878
NM_006393.3(NEBL):c.1496T>G (p.Met499Arg) rs727504620
NM_006393.3(NEBL):c.1498C>A (p.Gln500Lys)
NM_006393.3(NEBL):c.1515T>A (p.Thr505=) rs546593564
NM_006393.3(NEBL):c.1517T>C (p.Leu506Pro) rs2491776843
NM_006393.3(NEBL):c.1521T>A (p.Asp507Glu)
NM_006393.3(NEBL):c.1526A>G (p.Gln509Arg) rs2491776572
NM_006393.3(NEBL):c.152A>T (p.Asp51Val) rs2492660234
NM_006393.3(NEBL):c.1549A>T (p.Met517Leu) rs1430856878
NM_006393.3(NEBL):c.1567T>C (p.Tyr523His)
NM_006393.3(NEBL):c.1568A>C (p.Tyr523Ser) rs1840389351
NM_006393.3(NEBL):c.1580T>C (p.Leu527Ser) rs754388372
NM_006393.3(NEBL):c.1582G>C (p.Glu528Gln) rs2491772124
NM_006393.3(NEBL):c.1597G>A (p.Gly533Arg) rs541364544
NM_006393.3(NEBL):c.1608G>A (p.Met536Ile) rs794729078
NM_006393.3(NEBL):c.1612G>T (p.Val538Leu) rs75324054
NM_006393.3(NEBL):c.1620G>C (p.Met540Ile)
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln) rs747238199
NM_006393.3(NEBL):c.1640G>C (p.Arg547Pro) rs747238199
NM_006393.3(NEBL):c.1644C>T (p.Ala548=) rs1840379916
NM_006393.3(NEBL):c.1655C>A (p.Ser552Tyr) rs2491770540
NM_006393.3(NEBL):c.1670A>T (p.Gln557Leu) rs2491770277
NM_006393.3(NEBL):c.1672A>C (p.Arg558=) rs944343501
NM_006393.3(NEBL):c.169G>C (p.Glu57Gln) rs2492569182
NM_006393.3(NEBL):c.1703T>C (p.Leu568Pro)
NM_006393.3(NEBL):c.170A>G (p.Glu57Gly) rs1486952071
NM_006393.3(NEBL):c.1712A>G (p.Tyr571Cys) rs2491742466
NM_006393.3(NEBL):c.1719C>T (p.Thr573=) rs2491742367
NM_006393.3(NEBL):c.1734T>C (p.Pro578=) rs2491742102
NM_006393.3(NEBL):c.1743G>A (p.Gln581=)
NM_006393.3(NEBL):c.1764A>G (p.Gln588=)
NM_006393.3(NEBL):c.1767C>G (p.Asn589Lys) rs199587783
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.1775C>T (p.Ala592Val) rs146275785
NM_006393.3(NEBL):c.1779A>T (p.Val593=) rs775804733
NM_006393.3(NEBL):c.1800A>G (p.Gly600=) rs2491722773
NM_006393.3(NEBL):c.1831A>G (p.Ile611Val) rs2491722013
NM_006393.3(NEBL):c.1837C>A (p.Arg613=) rs146471913
NM_006393.3(NEBL):c.1862T>C (p.Ile621Thr)
NM_006393.3(NEBL):c.1872G>A (p.Val624=) rs755252752
NM_006393.3(NEBL):c.1939G>C (p.Glu647Gln) rs2491697728
NM_006393.3(NEBL):c.1961A>G (p.Asn654Ser) rs1839521789
NM_006393.3(NEBL):c.1962+14T>G rs1292029849
NM_006393.3(NEBL):c.1963-3C>T rs727504683
NM_006393.3(NEBL):c.1971T>C (p.Tyr657=)
NM_006393.3(NEBL):c.1976A>G (p.Glu659Gly) rs1382109831
NM_006393.3(NEBL):c.1983C>G (p.Asn661Lys) rs2491665889
NM_006393.3(NEBL):c.1985A>G (p.Tyr662Cys)
NM_006393.3(NEBL):c.2009C>A (p.Thr670Asn)
NM_006393.3(NEBL):c.2020G>A (p.Glu674Lys) rs747479121
NM_006393.3(NEBL):c.2035A>G (p.Asn679Asp) rs1418438128
NM_006393.3(NEBL):c.2048T>C (p.Leu683Pro)
NM_006393.3(NEBL):c.2053G>A (p.Ala685Thr)
NM_006393.3(NEBL):c.2055+7C>A rs368793318
NM_006393.3(NEBL):c.2149G>A (p.Val717Ile) rs2491629070
NM_006393.3(NEBL):c.2155T>G (p.Tyr719Asp) rs1427758049
NM_006393.3(NEBL):c.216T>C (p.Pro72=) rs2492567753
NM_006393.3(NEBL):c.2173A>G (p.Arg725Gly) rs1838655909
NM_006393.3(NEBL):c.2176G>A (p.Ala726Thr) rs397517205
NM_006393.3(NEBL):c.2181C>T (p.Thr727=) rs1838655042
NM_006393.3(NEBL):c.2215A>G (p.Lys739Glu)
NM_006393.3(NEBL):c.2225A>C (p.Gln742Pro) rs2491628052
NM_006393.3(NEBL):c.2260C>G (p.His754Asp) rs876661379
NM_006393.3(NEBL):c.2268G>A (p.Gln756=) rs754465399
NM_006393.3(NEBL):c.2281C>G (p.Pro761Ala) rs1157921869
NM_006393.3(NEBL):c.2283A>C (p.Pro761=)
NM_006393.3(NEBL):c.2289G>C (p.Leu763=) rs1196603745
NM_006393.3(NEBL):c.228T>C (p.His76=) rs1057523090
NM_006393.3(NEBL):c.2301A>G (p.Thr767=) rs762555413
NM_006393.3(NEBL):c.2303C>A (p.Pro768His)
NM_006393.3(NEBL):c.2306C>T (p.Ala769Val)
NM_006393.3(NEBL):c.2326G>A (p.Ala776Thr)
NM_006393.3(NEBL):c.232A>G (p.Lys78Glu)
NM_006393.3(NEBL):c.2340T>G (p.Ile780Met)
NM_006393.3(NEBL):c.2344A>T (p.Met782Leu) rs200574474
NM_006393.3(NEBL):c.236A>C (p.Asn79Thr) rs2492567124
NM_006393.3(NEBL):c.236A>G (p.Asn79Ser) rs2492567124
NM_006393.3(NEBL):c.2375C>A (p.Thr792Lys)
NM_006393.3(NEBL):c.2381G>A (p.Gly794Glu)
NM_006393.3(NEBL):c.2393C>T (p.Thr798Ile)
NM_006393.3(NEBL):c.2395C>G (p.Pro799Ala) rs566320226
NM_006393.3(NEBL):c.2400C>T (p.Val800=)
NM_006393.3(NEBL):c.2401G>C (p.Val801Leu) rs772136984
NM_006393.3(NEBL):c.2409T>C (p.Asp803=)
NM_006393.3(NEBL):c.2423G>A (p.Arg808Lys)
NM_006393.3(NEBL):c.2424A>C (p.Arg808Ser) rs1838303082
NM_006393.3(NEBL):c.2426T>C (p.Val809Ala)
NM_006393.3(NEBL):c.2430G>A (p.Arg810=)
NM_006393.3(NEBL):c.2432A>G (p.Lys811Arg)
NM_006393.3(NEBL):c.2439C>A (p.Thr813=) rs757884238
NM_006393.3(NEBL):c.2439C>T (p.Thr813=) rs757884238
NM_006393.3(NEBL):c.2448C>T (p.Val816=) rs764774216
NM_006393.3(NEBL):c.2450G>A (p.Ser817Asn) rs2491599636
NM_006393.3(NEBL):c.2467G>A (p.Gly823Arg) rs146601168
NM_006393.3(NEBL):c.2469G>T (p.Gly823=)
NM_006393.3(NEBL):c.2472C>T (p.Val824=)
NM_006393.3(NEBL):c.2475C>T (p.His825=) rs727503334
NM_006393.3(NEBL):c.2485G>C (p.Val829Leu)
NM_006393.3(NEBL):c.2492T>C (p.Met831Thr)
NM_006393.3(NEBL):c.2493G>A (p.Met831Ile)
NM_006393.3(NEBL):c.2497A>G (p.Arg833Gly)
NM_006393.3(NEBL):c.2499G>C (p.Arg833Ser)
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser) rs727505285
NM_006393.3(NEBL):c.2503C>A (p.Pro835Thr) rs1838292307
NM_006393.3(NEBL):c.2515G>A (p.Val839Ile) rs2491598558
NM_006393.3(NEBL):c.2517T>G (p.Val839=) rs770234424
NM_006393.3(NEBL):c.2534G>A (p.Arg845His) rs761052528
NM_006393.3(NEBL):c.2535C>T (p.Arg845=)
NM_006393.3(NEBL):c.2567C>T (p.Pro856Leu)
NM_006393.3(NEBL):c.2571G>A (p.Leu857=) rs756960377
NM_006393.3(NEBL):c.2578A>T (p.Asn860Tyr)
NM_006393.3(NEBL):c.259-21_259-15delinsCCTGG rs1554799332
NM_006393.3(NEBL):c.2591G>C (p.Arg864Thr) rs1163758141
NM_006393.3(NEBL):c.2594G>C (p.Ser865Thr) rs1392657113
NM_006393.3(NEBL):c.2598C>T (p.Leu866=) rs1180771006
NM_006393.3(NEBL):c.2600A>G (p.His867Arg)
NM_006393.3(NEBL):c.2614A>G (p.Lys872Glu) rs2491562340
NM_006393.3(NEBL):c.2616G>T (p.Lys872Asn) rs869025491
NM_006393.3(NEBL):c.2624A>T (p.His875Leu)
NM_006393.3(NEBL):c.2631G>A (p.Arg877=) rs2491562137
NM_006393.3(NEBL):c.2638T>G (p.Trp880Gly)
NM_006393.3(NEBL):c.2645G>T (p.Arg882Leu) rs758877499
NM_006393.3(NEBL):c.264A>C (p.Lys88Asn) rs767402814
NM_006393.3(NEBL):c.2658C>T (p.Ser886=) rs1367210165
NM_006393.3(NEBL):c.2660G>C (p.Ser887Thr) rs2491561507
NM_006393.3(NEBL):c.2682A>G (p.Gly894=) rs1334949712
NM_006393.3(NEBL):c.2691G>A (p.Arg897=) rs2491560957
NM_006393.3(NEBL):c.26T>C (p.Ile9Thr)
NM_006393.3(NEBL):c.2700C>A (p.Ile900=) rs760282483
NM_006393.3(NEBL):c.2740A>G (p.Thr914Ala)
NM_006393.3(NEBL):c.2748G>T (p.Pro916=) rs778128527
NM_006393.3(NEBL):c.2781C>G (p.Ala927=)
NM_006393.3(NEBL):c.2785C>G (p.Gln929Glu) rs2491380244
NM_006393.3(NEBL):c.2813A>G (p.Tyr938Cys) rs1024719266
NM_006393.3(NEBL):c.2815A>G (p.Met939Val)
NM_006393.3(NEBL):c.2816T>A (p.Met939Lys) rs1186569120
NM_006393.3(NEBL):c.2847A>G (p.Ser949=) rs1060504994
NM_006393.3(NEBL):c.2943C>A (p.Ile981=) rs201105598
NM_006393.3(NEBL):c.2945T>C (p.Val982Ala) rs2491367132
NM_006393.3(NEBL):c.2956C>T (p.Pro986Ser) rs2491366972
NM_006393.3(NEBL):c.2958T>A (p.Pro986=) rs2131613649
NM_006393.3(NEBL):c.2985A>C (p.Thr995=) rs534621300
NM_006393.3(NEBL):c.299C>A (p.Ser100Tyr) rs1846693156
NM_006393.3(NEBL):c.3020C>A (p.Ala1007Glu) rs769728098
NM_006393.3(NEBL):c.3031G>A (p.Glu1011Lys) rs375208825
NM_006393.3(NEBL):c.3036T>G (p.Phe1012Leu) rs139338531
NM_006393.3(NEBL):c.32A>G (p.Asp11Gly)
NM_006393.3(NEBL):c.342A>G (p.Ala114=) rs898778284
NM_006393.3(NEBL):c.347A>C (p.Glu116Ala) rs2492541751
NM_006393.3(NEBL):c.352A>T (p.Thr118Ser) rs2492541595
NM_006393.3(NEBL):c.358C>T (p.Leu120Phe)
NM_006393.3(NEBL):c.362A>G (p.Gln121Arg) rs1846686479
NM_006393.3(NEBL):c.369+18T>C rs771142727
NM_006393.3(NEBL):c.381G>A (p.Lys127=) rs2492439761
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu) rs139809958
NM_006393.3(NEBL):c.389A>G (p.His130Arg)
NM_006393.3(NEBL):c.403G>A (p.Gly135Arg)
NM_006393.3(NEBL):c.424A>G (p.Met142Val) rs773460701
NM_006393.3(NEBL):c.441G>A (p.Glu147=) rs1400126623
NM_006393.3(NEBL):c.441G>T (p.Glu147Asp) rs1400126623
NM_006393.3(NEBL):c.442G>T (p.Val148Phe)
NM_006393.3(NEBL):c.450T>G (p.His150Gln)
NM_006393.3(NEBL):c.456G>A (p.Met152Ile) rs1238447316
NM_006393.3(NEBL):c.470A>T (p.His157Leu) rs765163262
NM_006393.3(NEBL):c.476G>A (p.Ser159Asn) rs2492436765
NM_006393.3(NEBL):c.479A>G (p.Asn160Ser) rs773420259
NM_006393.3(NEBL):c.480+10C>A rs377230358
NM_006393.3(NEBL):c.480+15_480+16del rs1064794541
NM_006393.3(NEBL):c.481-14C>G rs1844740327
NM_006393.3(NEBL):c.483T>G (p.Ile161Met) rs1844738214
NM_006393.3(NEBL):c.498C>A (p.Asp166Glu) rs371105861
NM_006393.3(NEBL):c.509C>T (p.Thr170Ile) rs1564404256
NM_006393.3(NEBL):c.519C>T (p.Tyr173=) rs778673892
NM_006393.3(NEBL):c.521G>C (p.Ser174Thr) rs2492265412
NM_006393.3(NEBL):c.549G>A (p.Lys183=) rs2492264519
NM_006393.3(NEBL):c.55G>A (p.Gly19Arg)
NM_006393.3(NEBL):c.55G>C (p.Gly19Arg) rs2492664808
NM_006393.3(NEBL):c.561G>A (p.Gln187=) rs75301590
NM_006393.3(NEBL):c.578G>A (p.Ser193Asn) rs2492264030
NM_006393.3(NEBL):c.589T>C (p.Tyr197His)
NM_006393.3(NEBL):c.599G>A (p.Gly200Glu)
NM_006393.3(NEBL):c.607A>T (p.Ile203Leu) rs1003011762
NM_006393.3(NEBL):c.614A>G (p.Asn205Ser) rs794729077
NM_006393.3(NEBL):c.625G>T (p.Ala209Ser) rs142138590
NM_006393.3(NEBL):c.631A>T (p.Ile211Phe) rs2492245956
NM_006393.3(NEBL):c.640C>A (p.Pro214Thr) rs1392632186
NM_006393.3(NEBL):c.644A>G (p.Asp215Gly)
NM_006393.3(NEBL):c.647T>C (p.Phe216Ser) rs1844583506
NM_006393.3(NEBL):c.655G>A (p.Ala219Thr) rs2492245217
NM_006393.3(NEBL):c.658G>A (p.Val220Met) rs571563897
NM_006393.3(NEBL):c.658G>T (p.Val220Leu) rs571563897
NM_006393.3(NEBL):c.665C>T (p.Ala222Val)
NM_006393.3(NEBL):c.675T>C (p.Leu225=) rs2492244659
NM_006393.3(NEBL):c.683A>G (p.Gln228Arg)
NM_006393.3(NEBL):c.718A>G (p.Lys240Glu) rs1213415930
NM_006393.3(NEBL):c.729A>G (p.Lys243=) rs1268841293
NM_006393.3(NEBL):c.765G>A (p.Arg255=)
NM_006393.3(NEBL):c.766C>A (p.Gln256Lys)
NM_006393.3(NEBL):c.78C>T (p.Asp26=)
NM_006393.3(NEBL):c.797A>T (p.Asn266Ile)
NM_006393.3(NEBL):c.810G>A (p.Lys270=)
NM_006393.3(NEBL):c.816C>T (p.Asp272=) rs1843304012
NM_006393.3(NEBL):c.84C>A (p.Val28=) rs2492661908
NM_006393.3(NEBL):c.853A>G (p.Asn285Asp) rs1843299381
NM_006393.3(NEBL):c.863T>A (p.Phe288Tyr) rs2492052293
NM_006393.3(NEBL):c.914A>G (p.Lys305Arg)
NM_006393.3(NEBL):c.918G>A (p.Lys306=) rs2492001489
NM_006393.3(NEBL):c.940A>G (p.Met314Val) rs1001198907
NM_006393.3(NEBL):c.960T>C (p.Asp320=)
NM_006393.3(NEBL):c.966G>A (p.Val322=) rs1312966475
NM_006393.3(NEBL):c.971A>G (p.His324Arg) rs2492000773
NM_006393.3(NEBL):c.971A>T (p.His324Leu)
NM_006393.3(NEBL):c.976C>A (p.His326Asn) rs1232048555
NM_006393.3(NEBL):c.997C>T (p.Leu333Phe) rs2492000409
NM_213569.2(NEBL):c.357+73449dup rs57918610
NM_213569.2(NEBL):c.357+73457del rs57918610
NM_213569.2(NEBL):c.65A>T (p.Asp22Val) rs727503341
NM_213569.2(NEBL):c.70-5dup rs11413698

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