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: 457
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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 0.01104
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 0.00720
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 0.00245
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883 0.00213
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_006393.3(NEBL):c.1869+8C>G rs188529864 0.00188
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 0.00124
NM_006393.3(NEBL):c.994G>A (p.Val332Ile) rs150518045 0.00065
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 0.00036
NM_006393.3(NEBL):c.827T>C (p.Met276Thr) rs141285752 0.00033
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu) rs143644290 0.00030
NM_006393.3(NEBL):c.1449+14G>A rs373699154 0.00022
NM_006393.3(NEBL):c.2673A>G (p.Thr891=) rs202127185 0.00022
NM_006393.3(NEBL):c.2964C>T (p.Asp988=) rs144946187 0.00022
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.14T>C (p.Val5Ala) rs145770601 0.00019
NM_006393.3(NEBL):c.1728T>C (p.Asp576=) rs1528182 0.00019
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 0.00019
NM_006393.3(NEBL):c.2307T>C (p.Ala769=) rs144815863 0.00018
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met) rs202112717 0.00016
NM_006393.3(NEBL):c.258+1G>A rs139581346 0.00016
NM_006393.3(NEBL):c.2775C>T (p.Pro925=) rs199887353 0.00016
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.2868+9C>T rs377236750 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.1008+14C>T rs369037243 0.00012
NM_006393.3(NEBL):c.214C>A (p.Pro72Thr) rs150000482 0.00012
NM_213569.2(NEBL):c.69+15G>T rs377648518 0.00011
NM_006393.3(NEBL):c.2344A>G (p.Met782Val) rs200574474 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.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_006393.3(NEBL):c.259-13T>G rs923819811 0.00008
NM_006393.3(NEBL):c.2612-11C>T rs200934881 0.00008
NM_213569.2(NEBL):c.204A>T (p.Thr68=) rs563150056 0.00008
NM_006393.3(NEBL):c.1366A>G (p.Ile456Val) rs144402571 0.00007
NM_006393.3(NEBL):c.2848A>G (p.Met950Val) rs201838351 0.00007
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.1870G>C (p.Val624Leu) rs186851083 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.2619G>A (p.Ala873=) rs140803920 0.00006
NM_006393.3(NEBL):c.367G>A (p.Glu123Lys) rs189440246 0.00006
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu) rs727503338 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.2346+19A>G rs376097780 0.00005
NM_006393.3(NEBL):c.2406C>T (p.Asp802=) rs748203517 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.792G>A (p.Ala264=) rs375771045 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.1108C>A (p.Gln370Lys) rs146198369 0.00004
NM_006393.3(NEBL):c.1116+17G>C rs370094745 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.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.1893A>G (p.Lys631=) rs532807680 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.2013G>A (p.Pro671=) rs781677922 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.2445G>A (p.Val815=) rs578252294 0.00004
NM_006393.3(NEBL):c.2518+14G>A rs551568597 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.57G>C (p.Gly19=) rs764290131 0.00004
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr) rs142138590 0.00004
NM_006393.3(NEBL):c.815A>G (p.Asp272Gly) rs778861859 0.00004
NM_213569.2(NEBL):c.125A>G (p.Asn42Ser) rs727503340 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.153+15T>G rs397517204 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.2401G>A (p.Val801Met) rs772136984 0.00003
NM_006393.3(NEBL):c.2518+20C>T rs755901579 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.48A>G (p.Glu16=) rs967421212 0.00003
NM_006393.3(NEBL):c.498C>T (p.Asp166=) rs371105861 0.00003
NM_006393.3(NEBL):c.670A>G (p.Lys224Glu) rs148079637 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.1279C>T (p.Leu427Phe) rs770142870 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.2044C>T (p.Gln682Ter) rs763512999 0.00002
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala) rs780384504 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.2529T>G (p.Val843=) rs199821922 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.36A>C (p.Glu12Asp) rs368491819 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.1003A>C (p.Ser335Arg) rs771769135 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.1207A>G (p.Ile403Val) rs200534792 0.00001
NM_006393.3(NEBL):c.1208T>C (p.Ile403Thr) rs766378863 0.00001
NM_006393.3(NEBL):c.1228-7C>T rs200231082 0.00001
NM_006393.3(NEBL):c.1246T>G (p.Leu416Val) rs1473800986 0.00001
NM_006393.3(NEBL):c.1346A>G (p.Tyr449Cys) rs535927510 0.00001
NM_006393.3(NEBL):c.1367T>C (p.Ile456Thr) rs761169055 0.00001
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val) rs1237891829 0.00001
NM_006393.3(NEBL):c.149G>A (p.Ser50Asn) rs1207801626 0.00001
NM_006393.3(NEBL):c.157C>T (p.Arg53Cys) rs759216770 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.1826C>G (p.Pro609Arg) rs942030467 0.00001
NM_006393.3(NEBL):c.1904C>T (p.Ala635Val) rs727503335 0.00001
NM_006393.3(NEBL):c.1961A>T (p.Asn654Ile) rs1839521789 0.00001
NM_006393.3(NEBL):c.1996C>T (p.Pro666Ser) rs772963438 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.2174G>C (p.Arg725Thr) rs772956028 0.00001
NM_006393.3(NEBL):c.2241+17A>G rs368494211 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.2451C>T (p.Ser817=) rs375714953 0.00001
NM_006393.3(NEBL):c.2518+10C>T rs747607700 0.00001
NM_006393.3(NEBL):c.2547C>T (p.Gly849=) rs180850975 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.2668G>A (p.Gly890Ser) rs756192561 0.00001
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu) rs876657926 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.2820C>T (p.His940=) rs532565487 0.00001
NM_006393.3(NEBL):c.2913C>T (p.Asp971=) rs575423101 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.2T>C (p.Met1Thr) rs972622200 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.686T>C (p.Ile229Thr) rs774523404 0.00001
NM_006393.3(NEBL):c.738C>T (p.Tyr246=) rs778455217 0.00001
NM_006393.3(NEBL):c.837A>G (p.Pro279=) rs1211641825 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_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del
NM_006393.3(NEBL):c.-20A>G rs766280453
NM_006393.3(NEBL):c.-9A>G rs772236141
NM_006393.3(NEBL):c.1008+18C>T rs75903914
NM_006393.3(NEBL):c.1008+4_1008+5inv
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys) rs876657925
NM_006393.3(NEBL):c.1033A>G (p.Lys345Glu)
NM_006393.3(NEBL):c.1037del (p.Asn346fs) rs767349615
NM_006393.3(NEBL):c.1055T>C (p.Leu352Pro)
NM_006393.3(NEBL):c.1067A>G (p.Glu356Gly)
NM_006393.3(NEBL):c.1071A>C (p.Thr357=)
NM_006393.3(NEBL):c.1071A>G (p.Thr357=)
NM_006393.3(NEBL):c.1088C>T (p.Ser363Leu) rs747086170
NM_006393.3(NEBL):c.1099C>G (p.Gln367Glu)
NM_006393.3(NEBL):c.113G>A (p.Ser38Asn)
NM_006393.3(NEBL):c.1194A>G (p.Leu398=)
NM_006393.3(NEBL):c.1198G>A (p.Val400Ile)
NM_006393.3(NEBL):c.1206C>T (p.Tyr402=)
NM_006393.3(NEBL):c.1216C>T (p.Leu406Phe)
NM_006393.3(NEBL):c.1221G>A (p.Leu407=) rs2131006177
NM_006393.3(NEBL):c.1225G>C (p.Glu409Gln)
NM_006393.3(NEBL):c.1232A>C (p.Glu411Ala)
NM_006393.3(NEBL):c.1234T>A (p.Tyr412Asn)
NM_006393.3(NEBL):c.1243G>A (p.Asp415Asn)
NM_006393.3(NEBL):c.1250A>G (p.Glu417Gly)
NM_006393.3(NEBL):c.1252A>G (p.Asn418Asp)
NM_006393.3(NEBL):c.1269A>G (p.Lys423=) rs138932199
NM_006393.3(NEBL):c.1270G>C (p.Gly424Arg)
NM_006393.3(NEBL):c.1279C>G (p.Leu427Val)
NM_006393.3(NEBL):c.1287A>C (p.Ser429=)
NM_006393.3(NEBL):c.1307G>A (p.Arg436Lys)
NM_006393.3(NEBL):c.1311A>G (p.Ala437=) rs901799820
NM_006393.3(NEBL):c.1332A>C (p.Ala444=)
NM_006393.3(NEBL):c.1339-11G>A
NM_006393.3(NEBL):c.1347C>T (p.Tyr449=)
NM_006393.3(NEBL):c.1348A>C (p.Lys450Gln)
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.137C>T (p.Thr46Met)
NM_006393.3(NEBL):c.1380A>G (p.Lys460=)
NM_006393.3(NEBL):c.1398T>C (p.Thr466=)
NM_006393.3(NEBL):c.1403C>T (p.Thr468Ile)
NM_006393.3(NEBL):c.1416G>T (p.Gln472His)
NM_006393.3(NEBL):c.1427A>C (p.Lys476Thr)
NM_006393.3(NEBL):c.1434A>G (p.Ala478=) rs2130934253
NM_006393.3(NEBL):c.1442C>A (p.Ala481Glu)
NM_006393.3(NEBL):c.1442C>G (p.Ala481Gly)
NM_006393.3(NEBL):c.1447G>A (p.Glu483Lys)
NM_006393.3(NEBL):c.144C>T (p.Leu48=)
NM_006393.3(NEBL):c.1457A>G (p.Tyr486Cys)
NM_006393.3(NEBL):c.1460A>G (p.Lys487Arg)
NM_006393.3(NEBL):c.1461A>C (p.Lys487Asn)
NM_006393.3(NEBL):c.1466A>T (p.Asp489Val)
NM_006393.3(NEBL):c.1481T>G (p.Ile494Ser)
NM_006393.3(NEBL):c.1496T>G (p.Met499Arg) rs727504620
NM_006393.3(NEBL):c.1515T>A (p.Thr505=)
NM_006393.3(NEBL):c.1517T>C (p.Leu506Pro)
NM_006393.3(NEBL):c.1518T>C (p.Leu506=)
NM_006393.3(NEBL):c.1526A>G (p.Gln509Arg)
NM_006393.3(NEBL):c.152A>T (p.Asp51Val)
NM_006393.3(NEBL):c.1545C>T (p.Ser515=)
NM_006393.3(NEBL):c.154A>G (p.Ile52Val)
NM_006393.3(NEBL):c.1568A>C (p.Tyr523Ser)
NM_006393.3(NEBL):c.1580T>C (p.Leu527Ser)
NM_006393.3(NEBL):c.1582G>C (p.Glu528Gln)
NM_006393.3(NEBL):c.158G>A (p.Arg53His)
NM_006393.3(NEBL):c.1597G>A (p.Gly533Arg) rs541364544
NM_006393.3(NEBL):c.1602A>G (p.Lys534=)
NM_006393.3(NEBL):c.1608G>A (p.Met536Ile)
NM_006393.3(NEBL):c.1612G>T (p.Val538Leu)
NM_006393.3(NEBL):c.1621G>T (p.Asp541Tyr)
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln) rs747238199
NM_006393.3(NEBL):c.1640G>C (p.Arg547Pro)
NM_006393.3(NEBL):c.1644C>T (p.Ala548=)
NM_006393.3(NEBL):c.1655C>A (p.Ser552Tyr)
NM_006393.3(NEBL):c.1670A>T (p.Gln557Leu)
NM_006393.3(NEBL):c.1672A>C (p.Arg558=) rs944343501
NM_006393.3(NEBL):c.169G>C (p.Glu57Gln)
NM_006393.3(NEBL):c.170A>G (p.Glu57Gly)
NM_006393.3(NEBL):c.1712A>G (p.Tyr571Cys)
NM_006393.3(NEBL):c.1719C>T (p.Thr573=)
NM_006393.3(NEBL):c.1723G>A (p.Ala575Thr)
NM_006393.3(NEBL):c.1732C>T (p.Pro578Ser)
NM_006393.3(NEBL):c.1764A>T (p.Gln588His)
NM_006393.3(NEBL):c.1767C>G (p.Asn589Lys)
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.1778T>C (p.Val593Ala)
NM_006393.3(NEBL):c.1779A>T (p.Val593=)
NM_006393.3(NEBL):c.1800A>G (p.Gly600=)
NM_006393.3(NEBL):c.1831A>G (p.Ile611Val)
NM_006393.3(NEBL):c.1833C>T (p.Ile611=)
NM_006393.3(NEBL):c.1872G>A (p.Val624=)
NM_006393.3(NEBL):c.187G>A (p.Asp63Asn)
NM_006393.3(NEBL):c.1895A>G (p.His632Arg)
NM_006393.3(NEBL):c.1939G>C (p.Glu647Gln)
NM_006393.3(NEBL):c.1942A>C (p.Asn648His)
NM_006393.3(NEBL):c.1961A>G (p.Asn654Ser)
NM_006393.3(NEBL):c.1962+14T>G rs1292029849
NM_006393.3(NEBL):c.1963-3C>T rs727504683
NM_006393.3(NEBL):c.1976A>G (p.Glu659Gly)
NM_006393.3(NEBL):c.1983C>G (p.Asn661Lys)
NM_006393.3(NEBL):c.1994C>T (p.Thr665Ile)
NM_006393.3(NEBL):c.2010C>T (p.Thr670=)
NM_006393.3(NEBL):c.201T>C (p.Phe67=)
NM_006393.3(NEBL):c.2020G>A (p.Glu674Lys)
NM_006393.3(NEBL):c.2035A>G (p.Asn679Asp)
NM_006393.3(NEBL):c.2050A>C (p.Ser684Arg)
NM_006393.3(NEBL):c.2055+7C>A rs368793318
NM_006393.3(NEBL):c.2149G>A (p.Val717Ile)
NM_006393.3(NEBL):c.2151T>C (p.Val717=)
NM_006393.3(NEBL):c.2155T>G (p.Tyr719Asp) rs1427758049
NM_006393.3(NEBL):c.216T>C (p.Pro72=)
NM_006393.3(NEBL):c.2173A>G (p.Arg725Gly)
NM_006393.3(NEBL):c.2176G>A (p.Ala726Thr) rs397517205
NM_006393.3(NEBL):c.2181C>T (p.Thr727=)
NM_006393.3(NEBL):c.2225A>C (p.Gln742Pro)
NM_006393.3(NEBL):c.2260C>G (p.His754Asp) rs876661379
NM_006393.3(NEBL):c.2267A>C (p.Gln756Pro)
NM_006393.3(NEBL):c.2268G>A (p.Gln756=)
NM_006393.3(NEBL):c.2273A>G (p.Lys758Arg)
NM_006393.3(NEBL):c.2281C>G (p.Pro761Ala)
NM_006393.3(NEBL):c.228T>C (p.His76=) rs1057523090
NM_006393.3(NEBL):c.2301A>G (p.Thr767=)
NM_006393.3(NEBL):c.2301A>T (p.Thr767=)
NM_006393.3(NEBL):c.2315A>T (p.His772Leu)
NM_006393.3(NEBL):c.2343A>C (p.Ser781=)
NM_006393.3(NEBL):c.2344A>T (p.Met782Leu)
NM_006393.3(NEBL):c.2358T>C (p.His786=)
NM_006393.3(NEBL):c.236A>C (p.Asn79Thr)
NM_006393.3(NEBL):c.236A>G (p.Asn79Ser)
NM_006393.3(NEBL):c.2370A>G (p.Glu790=)
NM_006393.3(NEBL):c.2386G>A (p.Gly796Ser)
NM_006393.3(NEBL):c.2395C>G (p.Pro799Ala)
NM_006393.3(NEBL):c.23A>G (p.Asp8Gly)
NM_006393.3(NEBL):c.2401G>C (p.Val801Leu)
NM_006393.3(NEBL):c.2424A>C (p.Arg808Ser)
NM_006393.3(NEBL):c.2428A>G (p.Arg810Gly)
NM_006393.3(NEBL):c.2439C>A (p.Thr813=) rs757884238
NM_006393.3(NEBL):c.2439C>T (p.Thr813=)
NM_006393.3(NEBL):c.2448C>T (p.Val816=)
NM_006393.3(NEBL):c.2450G>A (p.Ser817Asn)
NM_006393.3(NEBL):c.2467G>A (p.Gly823Arg)
NM_006393.3(NEBL):c.2475C>T (p.His825=) rs727503334
NM_006393.3(NEBL):c.2484C>T (p.Ile828=) rs1315850585
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser) rs727505285
NM_006393.3(NEBL):c.2503C>A (p.Pro835Thr)
NM_006393.3(NEBL):c.250A>T (p.Ile84Phe)
NM_006393.3(NEBL):c.2515G>A (p.Val839Ile)
NM_006393.3(NEBL):c.2517T>G (p.Val839=)
NM_006393.3(NEBL):c.255T>C (p.Ser85=) rs727504471
NM_006393.3(NEBL):c.2563G>T (p.Asp855Tyr)
NM_006393.3(NEBL):c.2571G>A (p.Leu857=)
NM_006393.3(NEBL):c.259-21_259-15delinsCCTGG rs1554799332
NM_006393.3(NEBL):c.2591G>C (p.Arg864Thr)
NM_006393.3(NEBL):c.2594G>C (p.Ser865Thr)
NM_006393.3(NEBL):c.2598C>T (p.Leu866=)
NM_006393.3(NEBL):c.2599C>T (p.His867Tyr)
NM_006393.3(NEBL):c.2614A>G (p.Lys872Glu)
NM_006393.3(NEBL):c.2616G>T (p.Lys872Asn) rs869025491
NM_006393.3(NEBL):c.2623C>A (p.His875Asn)
NM_006393.3(NEBL):c.2631G>A (p.Arg877=)
NM_006393.3(NEBL):c.264A>C (p.Lys88Asn)
NM_006393.3(NEBL):c.2653T>C (p.Ser885Pro)
NM_006393.3(NEBL):c.2658C>T (p.Ser886=)
NM_006393.3(NEBL):c.2660G>C (p.Ser887Thr)
NM_006393.3(NEBL):c.2680G>A (p.Gly894Arg)
NM_006393.3(NEBL):c.2682A>G (p.Gly894=) rs1334949712
NM_006393.3(NEBL):c.2684A>C (p.Asp895Ala)
NM_006393.3(NEBL):c.2686G>A (p.Asp896Asn)
NM_006393.3(NEBL):c.2691G>A (p.Arg897=)
NM_006393.3(NEBL):c.2699T>A (p.Ile900Asn)
NM_006393.3(NEBL):c.2700C>A (p.Ile900=)
NM_006393.3(NEBL):c.2725T>C (p.Cys909Arg)
NM_006393.3(NEBL):c.272G>A (p.Gly91Asp)
NM_006393.3(NEBL):c.2748G>T (p.Pro916=) rs778128527
NM_006393.3(NEBL):c.2785C>G (p.Gln929Glu)
NM_006393.3(NEBL):c.2796T>C (p.His932=)
NM_006393.3(NEBL):c.2813A>G (p.Tyr938Cys) rs1024719266
NM_006393.3(NEBL):c.2830G>A (p.Val944Met)
NM_006393.3(NEBL):c.2847A>G (p.Ser949=)
NM_006393.3(NEBL):c.2903A>G (p.Gln968Arg)
NM_006393.3(NEBL):c.2943C>A (p.Ile981=)
NM_006393.3(NEBL):c.2944G>A (p.Val982Ile)
NM_006393.3(NEBL):c.2945T>C (p.Val982Ala)
NM_006393.3(NEBL):c.2949C>T (p.Asn983=)
NM_006393.3(NEBL):c.2956C>T (p.Pro986Ser)
NM_006393.3(NEBL):c.2958T>A (p.Pro986=)
NM_006393.3(NEBL):c.2966A>G (p.Asp989Gly)
NM_006393.3(NEBL):c.2979C>T (p.Tyr993=)
NM_006393.3(NEBL):c.297T>C (p.Asn99=)
NM_006393.3(NEBL):c.2985A>C (p.Thr995=)
NM_006393.3(NEBL):c.2985A>G (p.Thr995=) rs534621300
NM_006393.3(NEBL):c.299C>A (p.Ser100Tyr)
NM_006393.3(NEBL):c.3020C>A (p.Ala1007Glu)
NM_006393.3(NEBL):c.3021G>A (p.Ala1007=)
NM_006393.3(NEBL):c.3031G>A (p.Glu1011Lys) rs375208825
NM_006393.3(NEBL):c.3036T>G (p.Phe1012Leu)
NM_006393.3(NEBL):c.342A>G (p.Ala114=)
NM_006393.3(NEBL):c.347A>C (p.Glu116Ala)
NM_006393.3(NEBL):c.352A>T (p.Thr118Ser)
NM_006393.3(NEBL):c.362A>G (p.Gln121Arg)
NM_006393.3(NEBL):c.369+18T>C rs771142727
NM_006393.3(NEBL):c.381G>A (p.Lys127=)
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu) rs139809958
NM_006393.3(NEBL):c.424A>G (p.Met142Val)
NM_006393.3(NEBL):c.441G>A (p.Glu147=)
NM_006393.3(NEBL):c.441G>T (p.Glu147Asp)
NM_006393.3(NEBL):c.470A>T (p.His157Leu)
NM_006393.3(NEBL):c.471C>G (p.His157Gln)
NM_006393.3(NEBL):c.476G>A (p.Ser159Asn)
NM_006393.3(NEBL):c.480+10C>A rs377230358
NM_006393.3(NEBL):c.480+15_480+16del rs1064794541
NM_006393.3(NEBL):c.483T>G (p.Ile161Met)
NM_006393.3(NEBL):c.498C>A (p.Asp166Glu) rs371105861
NM_006393.3(NEBL):c.511C>T (p.His171Tyr)
NM_006393.3(NEBL):c.519C>T (p.Tyr173=)
NM_006393.3(NEBL):c.521G>C (p.Ser174Thr)
NM_006393.3(NEBL):c.528A>G (p.Glu176=)
NM_006393.3(NEBL):c.549G>A (p.Lys183=)
NM_006393.3(NEBL):c.55G>C (p.Gly19Arg)
NM_006393.3(NEBL):c.561G>A (p.Gln187=)
NM_006393.3(NEBL):c.578G>A (p.Ser193Asn)
NM_006393.3(NEBL):c.607A>T (p.Ile203Leu)
NM_006393.3(NEBL):c.611T>C (p.Met204Thr)
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)
NM_006393.3(NEBL):c.640C>A (p.Pro214Thr)
NM_006393.3(NEBL):c.647T>C (p.Phe216Ser)
NM_006393.3(NEBL):c.652C>T (p.His218Tyr)
NM_006393.3(NEBL):c.655G>A (p.Ala219Thr)
NM_006393.3(NEBL):c.657C>T (p.Ala219=)
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.675T>C (p.Leu225=)
NM_006393.3(NEBL):c.718A>G (p.Lys240Glu)
NM_006393.3(NEBL):c.729A>G (p.Lys243=)
NM_006393.3(NEBL):c.729A>T (p.Lys243Asn)
NM_006393.3(NEBL):c.801G>T (p.Val267=)
NM_006393.3(NEBL):c.816C>T (p.Asp272=)
NM_006393.3(NEBL):c.838G>A (p.Val280Ile)
NM_006393.3(NEBL):c.846T>G (p.Asp282Glu)
NM_006393.3(NEBL):c.84C>A (p.Val28=)
NM_006393.3(NEBL):c.863T>A (p.Phe288Tyr)
NM_006393.3(NEBL):c.905G>A (p.Arg302Gln)
NM_006393.3(NEBL):c.918G>A (p.Lys306=)
NM_006393.3(NEBL):c.959A>G (p.Asp320Gly)
NM_006393.3(NEBL):c.966G>A (p.Val322=)
NM_006393.3(NEBL):c.971A>G (p.His324Arg)
NM_006393.3(NEBL):c.976C>A (p.His326Asn)
NM_006393.3(NEBL):c.997C>T (p.Leu333Phe)
NM_213569.2(NEBL):c.250-10T>G rs727503339
NM_213569.2(NEBL):c.31G>C (p.Val11Leu)
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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