ClinVar Miner

List of variants in gene NEBL

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1061
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HGVS dbSNP gnomAD frequency
NM_006393.3(NEBL):c.2869-232C>G rs2765844 0.98655
NM_006393.3(NEBL):c.1008+5A>G rs703089 0.98186
NM_006393.3(NEBL):c.153+66T>G rs788971 0.95593
NM_006393.3(NEBL):c.258+200C>T rs697161 0.89860
NM_006393.3(NEBL):c.369+81C>T rs703100 0.89640
NM_006393.3(NEBL):c.154-282T>A rs703102 0.88361
NM_006393.3(NEBL):c.684+101A>G rs2296609 0.74121
NM_006393.3(NEBL):c.799-247A>G rs1409272 0.66571
NM_006393.3(NEBL):c.799-97A>T rs1409273 0.58862
NM_006393.3(NEBL):c.798+58G>T rs4748729 0.56332
NM_006393.3(NEBL):c.480+3069G>A rs3858198 0.55160
NM_006393.3(NEBL):c.2518+275A>G rs10828136 0.50610
NM_006393.3(NEBL):c.2612-181T>C rs3758601 0.48814
NM_006393.3(NEBL):c.2149-48T>A rs4748727 0.47211
NM_006393.3(NEBL):c.1869+44A>G rs1409348 0.46365
NM_006393.3(NEBL):c.2055+106G>A rs1006362 0.46359
NM_006393.3(NEBL):c.1671+9T>C rs10491056 0.42572
NM_006393.3(NEBL):c.1777-140T>G rs10828139 0.32838
NM_006393.3(NEBL):c.2762-70G>A rs2296607 0.27310
NM_006393.3(NEBL):c.153+226C>T rs788970 0.25562
NM_006393.3(NEBL):c.1962+26T>A rs11012353 0.25343
NM_006393.3(NEBL):c.*221A>G rs2296613 0.24930
NM_006393.3(NEBL):c.1009-252T>A rs2274361 0.22473
NM_006393.3(NEBL):c.2031G>A (p.Arg677=) rs1006363 0.22278
NM_006393.3(NEBL):c.1228-103G>T rs2281881 0.21953
NM_006393.3(NEBL):c.799-145C>T rs703093 0.21297
NM_213569.2(NEBL):c.164+80C>T rs35856892 0.17625
NM_006393.3(NEBL):c.2868+31G>T rs2296606 0.14746
NM_006393.3(NEBL):c.370-90A>C rs16921213 0.11904
NM_006393.3(NEBL):c.2997A>G (p.Thr999=) rs2296614 0.08806
NM_006393.3(NEBL):c.2761+318C>T rs76261504 0.07638
NM_213569.2(NEBL):c.357+63863C>T rs12251227 0.07211
NM_213569.2(NEBL):c.357+63739C>T rs12251286 0.07209
NM_006393.3(NEBL):c.258+244T>C rs71578977 0.06900
NM_006393.3(NEBL):c.1338+80A>G rs41277368 0.06837
NM_213569.2(NEBL):c.357+285A>G rs12411671 0.06709
NM_006393.3(NEBL):c.1051A>G (p.Met351Val) rs4025981 0.05741
NM_006393.3(NEBL):c.2242-302G>T rs61146312 0.05724
NM_006393.3(NEBL):c.799-338T>G rs45513591 0.05697
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys) rs4748728 0.05648
NM_006393.3(NEBL):c.1962+213T>C rs75938474 0.05513
NM_006393.3(NEBL):c.1132G>C (p.Asp378His) rs41277370 0.05503
NM_006393.3(NEBL):c.1963-261A>G rs71578949 0.05312
NM_006393.3(NEBL):c.1962+279A>C rs74120668 0.04187
NM_006393.3(NEBL):c.369+266G>A rs16921225 0.03719
NM_006393.3(NEBL):c.1009-97C>T rs10160126 0.03532
NM_006393.3(NEBL):c.1008+76C>T rs41277372 0.03061
NM_213569.2(NEBL):c.250-215T>G rs73607559 0.03054
NM_213569.2(NEBL):c.-107G>T rs113394390 0.03009
NM_006393.3(NEBL):c.799-339A>G rs75391344 0.02500
NM_006393.3(NEBL):c.1449+158A>T rs12098681 0.02309
NM_213569.2(NEBL):c.357+64301C>G rs74960967 0.02087
NM_006393.3(NEBL):c.2149-186C>T rs12267369 0.01998
NM_006393.3(NEBL):c.1339-210T>C rs74120695 0.01861
NM_006393.3(NEBL):c.798+237G>T rs45586736 0.01795
NM_006393.3(NEBL):c.154-70T>A rs74123535 0.01676
NM_006393.3(NEBL):c.1671+288T>C rs113640261 0.01589
NM_006393.3(NEBL):c.582+171G>T rs11012367 0.01489
NM_213569.2(NEBL):c.250-231C>T rs11012421 0.01485
NM_006393.3(NEBL):c.2762-263T>A rs2296608 0.01475
NM_006393.3(NEBL):c.2762-296G>A rs115922291 0.01468
NM_006393.3(NEBL):c.2761+280T>A rs73607518 0.01410
NM_006393.3(NEBL):c.2611+87del rs145642401 0.01363
NM_006393.3(NEBL):c.2762-64T>A rs7101127 0.01312
NM_006393.3(NEBL):c.1962+203T>G rs112412623 0.01295
NM_006393.3(NEBL):c.2762-328A>C rs145715141 0.01220
NM_006393.3(NEBL):c.903+25C>T rs2281883 0.01163
NM_006393.3(NEBL):c.903+26G>A rs58005377 0.01130
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp) rs2296610 0.01104
NM_006393.3(NEBL):c.1227+79A>G rs12260966 0.00977
NM_006393.3(NEBL):c.1008+68C>T rs11012360 0.00975
NM_213569.2(NEBL):c.-7C>T rs141707642 0.00974
NM_213569.2(NEBL):c.250-214A>G rs116187316 0.00914
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
NM_006393.3(NEBL):c.2242-278G>T rs77352066 0.00843
NM_006393.3(NEBL):c.1869+29T>C rs71578946 0.00823
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg) rs71578975 0.00786
NM_006393.3(NEBL):c.2241+68C>T rs71578958 0.00773
NM_001377326.1(NEBL):c.-39-2001G>A rs73609218 0.00752
NM_006393.3(NEBL):c.1962+250G>A rs140434528 0.00734
NM_213569.2(NEBL):c.357T>C (p.Asn119=) rs115708584 0.00720
NM_213569.2(NEBL):c.69+282A>G rs373746635 0.00682
NM_006393.3(NEBL):c.2611+60G>A rs71578969 0.00627
NM_006393.3(NEBL):c.370-261G>A rs115523390 0.00582
NM_006393.3(NEBL):c.1963-98G>A rs141224763 0.00544
NM_006393.3(NEBL):c.799-252A>G rs71541568 0.00542
NM_006393.3(NEBL):c.1008+4C>T rs71534253 0.00540
NM_006393.3(NEBL):c.370-228A>G rs71578981 0.00540
NM_006393.3(NEBL):c.1117-6T>G rs71578938 0.00538
NM_006393.3(NEBL):c.258+183A>C rs144066723 0.00538
NM_006393.3(NEBL):c.1339-262A>G rs148765147 0.00537
NM_006393.3(NEBL):c.1560+75C>T rs71578942 0.00533
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val) rs79718972 0.00532
NM_006393.3(NEBL):c.2242-316C>G rs185746282 0.00507
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858 0.00501
NM_006393.3(NEBL):c.1672-54C>A rs115751438 0.00501
NM_006393.3(NEBL):c.1117-70C>G rs141306151 0.00478
NM_006393.3(NEBL):c.154-154T>C rs146260489 0.00477
NM_006393.3(NEBL):c.903+260C>T rs71524337 0.00476
NM_006393.3(NEBL):c.481-157A>C rs151106272 0.00455
NM_006393.3(NEBL):c.903+71A>G rs373462989 0.00426
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_006393.3(NEBL):c.2242-307G>A rs193128932 0.00381
NM_006393.3(NEBL):c.2242-250T>G rs147581181 0.00374
NM_006393.3(NEBL):c.1671+104A>G rs79358035 0.00351
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_006393.3(NEBL):c.1449+190A>G rs71578941 0.00318
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.2346+44G>C rs71578962 0.00230
NM_006393.3(NEBL):c.1870-29T>G rs145229370 0.00220
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883 0.00213
NM_006393.3(NEBL):c.154-49A>T rs77136151 0.00212
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.1008+28C>A rs181687672 0.00084
NM_006393.3(NEBL):c.1838G>A (p.Arg613Gln) rs151035799 0.00074
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.277A>G (p.Ile93Val) rs762884881 0.00044
NM_006393.3(NEBL):c.1962+7A>G rs371630900 0.00036
NM_006393.3(NEBL):c.908A>G (p.Glu303Gly) rs139610204 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.27A>C (p.Ile9=) rs536400111 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.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.1227+5G>A rs370026081 0.00014
NM_006393.3(NEBL):c.1864A>C (p.Ser622Arg) rs142157051 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.393T>C (p.Asp131=) rs759593690 0.00013
NM_006393.3(NEBL):c.1008+14C>T rs369037243 0.00012
NM_006393.3(NEBL):c.214C>A (p.Pro72Thr) rs150000482 0.00012
NM_006393.3(NEBL):c.2650C>T (p.His884Tyr) rs191259903 0.00011
NM_006393.3(NEBL):c.523G>A (p.Ala175Thr) rs71541562 0.00011
NM_213569.2(NEBL):c.69+15G>T rs377648518 0.00011
NM_006393.3(NEBL):c.1674A>C (p.Arg558Ser) rs376405982 0.00010
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.1255G>T (p.Glu419Ter) rs201103536 0.00008
NM_006393.3(NEBL):c.1540G>T (p.Ala514Ser) rs781572930 0.00008
NM_006393.3(NEBL):c.1946A>G (p.Gln649Arg) rs770416802 0.00008
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.535C>T (p.Arg179Ter) rs370153729 0.00007
NM_006393.3(NEBL):c.1225G>A (p.Glu409Lys) rs767565380 0.00006
NM_006393.3(NEBL):c.1258A>G (p.Ile420Val) rs761905318 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.1715C>T (p.Ser572Phe) rs778833975 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.1998G>A (p.Pro666=) rs761798662 0.00006
NM_006393.3(NEBL):c.2055G>A (p.Ala685=) rs746081261 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.326T>C (p.Ile109Thr) rs371620771 0.00006
NM_006393.3(NEBL):c.367G>A (p.Glu123Lys) rs189440246 0.00006
NM_006393.3(NEBL):c.430G>C (p.Glu144Gln) rs147430943 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.1117-3C>T rs376080967 0.00005
NM_006393.3(NEBL):c.1671+12A>C rs77445663 0.00005
NM_006393.3(NEBL):c.2055+7C>T rs368793318 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.259-2A>T rs904604682 0.00005
NM_006393.3(NEBL):c.259-8T>C rs753391210 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.720G>A (p.Lys240=) rs746237029 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.1227+4C>T rs373813159 0.00004
NM_006393.3(NEBL):c.1316G>A (p.Arg439Gln) rs755916272 0.00004
NM_006393.3(NEBL):c.1339-19_1339-18insC rs762491132 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.2240C>T (p.Ser747Leu) rs71578957 0.00004
NM_006393.3(NEBL):c.2323del (p.Glu775fs) rs776502857 0.00004
NM_006393.3(NEBL):c.2347-9C>T rs750957531 0.00004
NM_006393.3(NEBL):c.241G>A (p.Gly81Ser) rs369862013 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.2612-27C>T rs568587887 0.00004
NM_006393.3(NEBL):c.2703C>T (p.Ser901=) rs374451899 0.00004
NM_006393.3(NEBL):c.2718C>A (p.Ser906Arg) rs768402237 0.00004
NM_006393.3(NEBL):c.2868+20G>A rs780451303 0.00004
NM_006393.3(NEBL):c.2943C>T (p.Ile981=) rs201105598 0.00004
NM_006393.3(NEBL):c.310C>T (p.Arg104Trp) rs548671032 0.00004
NM_006393.3(NEBL):c.311G>A (p.Arg104Gln) rs537661572 0.00004
NM_006393.3(NEBL):c.412G>C (p.Asp138His) rs561316471 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.715A>G (p.Met239Val) rs1037792824 0.00004
NM_006393.3(NEBL):c.721G>A (p.Asp241Asn) rs372364915 0.00004
NM_006393.3(NEBL):c.798+7T>A rs771324301 0.00004
NM_006393.3(NEBL):c.815A>G (p.Asp272Gly) rs778861859 0.00004
NM_006393.3(NEBL):c.872A>G (p.His291Arg) rs147853594 0.00004
NM_006393.3(NEBL):c.903+12A>G rs745380674 0.00004
NM_006393.3(NEBL):c.903C>T (p.Gly301=) rs200799762 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.1639C>T (p.Arg547Ter) rs149647815 0.00003
NM_006393.3(NEBL):c.1689A>G (p.Glu563=) rs1423516014 0.00003
NM_006393.3(NEBL):c.1776+10_1776+11insGCT rs752802559 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.2041G>A (p.Glu681Lys) rs1060503679 0.00003
NM_006393.3(NEBL):c.2149-11T>C rs369297283 0.00003
NM_006393.3(NEBL):c.2149-17G>T rs750555294 0.00003
NM_006393.3(NEBL):c.2206G>T (p.Glu736Ter) rs780056247 0.00003
NM_006393.3(NEBL):c.2394T>C (p.Thr798=) rs764897449 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.2518+6C>G rs771316603 0.00003
NM_006393.3(NEBL):c.2533C>T (p.Arg845Cys) rs776914197 0.00003
NM_006393.3(NEBL):c.2596C>T (p.Leu866Phe) rs373721327 0.00003
NM_006393.3(NEBL):c.2644C>T (p.Arg882Ter) rs151012132 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.536G>A (p.Arg179Gln) rs750476653 0.00003
NM_006393.3(NEBL):c.670A>G (p.Lys224Glu) rs148079637 0.00003
NM_006393.3(NEBL):c.795C>G (p.Ser265Arg) rs368513995 0.00003
NM_006393.3(NEBL):c.798+1G>A rs746179839 0.00003
NM_006393.3(NEBL):c.81+8A>G rs371780063 0.00003
NM_006393.3(NEBL):c.903+1G>T rs775057540 0.00003
NM_006393.3(NEBL):c.904C>T (p.Arg302Ter) rs149737043 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.1429G>C (p.Ala477Pro) rs758358892 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.1978C>A (p.Gln660Lys) rs11012351 0.00002
NM_006393.3(NEBL):c.2026G>A (p.Val676Met) rs149878829 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.218T>C (p.Met73Thr) rs374218451 0.00002
NM_006393.3(NEBL):c.2241G>A (p.Ser747=) rs377702958 0.00002
NM_006393.3(NEBL):c.2242-16A>G rs757332145 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.2577C>T (p.Asp859=) rs746553915 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.2868A>G (p.Leu956=) rs779415582 0.00002
NM_006393.3(NEBL):c.2869-10C>G rs373167913 0.00002
NM_006393.3(NEBL):c.36A>C (p.Glu12Asp) rs368491819 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.650A>G (p.Glu217Gly) rs755291598 0.00002
NM_006393.3(NEBL):c.807C>G (p.Tyr269Ter) rs748781067 0.00002
NM_006393.3(NEBL):c.82-16C>A rs199531054 0.00002
NM_006393.3(NEBL):c.903+15T>C rs770515409 0.00002
NM_006393.3(NEBL):c.978C>T (p.His326=) rs1479545854 0.00002
NM_006393.3(NEBL):c.1003A>C (p.Ser335Arg) rs771769135 0.00001
NM_006393.3(NEBL):c.103G>A (p.Glu35Lys) rs878854902 0.00001
NM_006393.3(NEBL):c.1074A>G (p.Pro358=) rs1180113998 0.00001
NM_006393.3(NEBL):c.1079A>T (p.Tyr360Phe) rs1317887456 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.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.1441G>A (p.Ala481Thr) rs1291010559 0.00001
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val) rs1237891829 0.00001
NM_006393.3(NEBL):c.1449+8G>C rs754000768 0.00001
NM_006393.3(NEBL):c.149G>A (p.Ser50Asn) rs1207801626 0.00001
NM_006393.3(NEBL):c.153+5G>A rs766864066 0.00001
NM_006393.3(NEBL):c.154-10T>C rs1057521303 0.00001
NM_006393.3(NEBL):c.1541C>T (p.Ala514Val) rs1256153819 0.00001
NM_006393.3(NEBL):c.1543T>A (p.Ser515Thr) rs990217100 0.00001
NM_006393.3(NEBL):c.1546G>A (p.Glu516Lys) rs45461595 0.00001
NM_006393.3(NEBL):c.1549A>G (p.Met517Val) rs1430856878 0.00001
NM_006393.3(NEBL):c.1560+10C>A rs753190648 0.00001
NM_006393.3(NEBL):c.1560+15A>T rs190353004 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.1632T>C (p.Asp544=) rs1308048675 0.00001
NM_006393.3(NEBL):c.1773T>G (p.Ser591Arg) rs1206155356 0.00001
NM_006393.3(NEBL):c.1776G>A (p.Ala592=) rs113406843 0.00001
NM_006393.3(NEBL):c.1826C>G (p.Pro609Arg) rs942030467 0.00001
NM_006393.3(NEBL):c.1879A>G (p.Lys627Glu) rs766695780 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.1993A>C (p.Thr665Pro) rs936216558 0.00001
NM_006393.3(NEBL):c.1996C>T (p.Pro666Ser) rs772963438 0.00001
NM_006393.3(NEBL):c.2002A>G (p.Ser668Gly) rs774221912 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.2055+8G>A rs747359685 0.00001
NM_006393.3(NEBL):c.2174G>C (p.Arg725Thr) rs772956028 0.00001
NM_006393.3(NEBL):c.2232T>C (p.Asn744=) rs1588672485 0.00001
NM_006393.3(NEBL):c.2241+17A>G rs368494211 0.00001
NM_006393.3(NEBL):c.2241+6T>C rs757456889 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.2390T>C (p.Phe797Ser) rs1838312385 0.00001
NM_006393.3(NEBL):c.2407G>A (p.Asp803Asn) rs774594552 0.00001
NM_006393.3(NEBL):c.242G>C (p.Gly81Ala) rs1442801795 0.00001
NM_006393.3(NEBL):c.2451C>T (p.Ser817=) rs375714953 0.00001
NM_006393.3(NEBL):c.2507G>A (p.Gly836Glu) rs768915725 0.00001
NM_006393.3(NEBL):c.2513T>C (p.Ile838Thr) rs749452317 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.2611+6A>G rs762305537 0.00001
NM_006393.3(NEBL):c.2668G>A (p.Gly890Ser) rs756192561 0.00001
NM_006393.3(NEBL):c.2679C>T (p.Leu893=) rs1437022892 0.00001
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu) rs876657926 0.00001
NM_006393.3(NEBL):c.2704G>A (p.Glu902Lys) rs761425280 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.2868+19C>T rs41277364 0.00001
NM_006393.3(NEBL):c.2869-15T>A rs746451058 0.00001
NM_006393.3(NEBL):c.2869-16C>T rs192193707 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.2959A>G (p.Ile987Val) rs746298728 0.00001
NM_006393.3(NEBL):c.2T>C (p.Met1Thr) rs972622200 0.00001
NM_006393.3(NEBL):c.300T>C (p.Ser100=) rs747440079 0.00001
NM_006393.3(NEBL):c.3028A>G (p.Ile1010Val) rs1400947444 0.00001
NM_006393.3(NEBL):c.325A>G (p.Ile109Val) rs750081149 0.00001
NM_006393.3(NEBL):c.340G>T (p.Ala114Ser) rs996144249 0.00001
NM_006393.3(NEBL):c.360C>T (p.Leu120=) rs1253834442 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.450T>C (p.His150=) rs1291636433 0.00001
NM_006393.3(NEBL):c.463A>G (p.Asn155Asp) rs1344682606 0.00001
NM_006393.3(NEBL):c.503A>T (p.Gln168Leu) rs730880171 0.00001
NM_006393.3(NEBL):c.516G>A (p.Thr172=) rs143962290 0.00001
NM_006393.3(NEBL):c.534C>T (p.Asp178=) rs374344424 0.00001
NM_006393.3(NEBL):c.583-15A>G rs561521823 0.00001
NM_006393.3(NEBL):c.591C>T (p.Tyr197=) rs773877708 0.00001
NM_006393.3(NEBL):c.640C>G (p.Pro214Ala) rs1392632186 0.00001
NM_006393.3(NEBL):c.676T>C (p.Ser226Pro) rs768861339 0.00001
NM_006393.3(NEBL):c.684A>G (p.Gln228=) rs533225203 0.00001
NM_006393.3(NEBL):c.685-1G>C rs1843486814 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.743C>T (p.Pro248Leu) rs1409547551 0.00001
NM_006393.3(NEBL):c.798T>C (p.Asn266=) rs770019579 0.00001
NM_006393.3(NEBL):c.799-4A>G rs773699320 0.00001
NM_006393.3(NEBL):c.834T>A (p.Asp278Glu) rs562939997 0.00001
NM_006393.3(NEBL):c.837A>G (p.Pro279=) rs1211641825 0.00001
NM_006393.3(NEBL):c.857T>A (p.Leu286Ter) rs752717041 0.00001
NM_006393.3(NEBL):c.900C>T (p.Ser300=) rs1476548617 0.00001
NM_006393.3(NEBL):c.901G>A (p.Gly301Ser) rs773469997 0.00001
NM_006393.3(NEBL):c.903+18C>T rs993846016 0.00001
NM_006393.3(NEBL):c.903+2dup rs1473850704 0.00001
NM_006393.3(NEBL):c.921C>A (p.Leu307=) rs369291648 0.00001
NM_006393.3(NEBL):c.96T>C (p.Pro32=) rs1210614574 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
GRCh37/hg19 10p12.31(chr10:20648237-21129533)x3
GRCh37/hg19 10p12.31(chr10:21159723-21284409)x3
GRCh37/hg19 10p12.31(chr10:21164208-21184413)x3
GRCh38/hg38 10p12.31(chr10:20906254-20910631)x1
NC_000010.10:g.(?_21074676)_(21076257_?)dup
NC_000010.11:g.(?_20828510)_(20828654_?)del
NC_000010.11:g.(?_20828520)_(20828644_?)del
NC_000010.11:g.(?_20840719)_(20840869_?)del
NC_000010.11:g.(?_20840729)_(20840859_?)del
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.1004G>T (p.Ser335Ile) rs1842654577
NM_006393.3(NEBL):c.1008+18C>T rs75903914
NM_006393.3(NEBL):c.1008+1G>C
NM_006393.3(NEBL):c.1008+33del rs3831100
NM_006393.3(NEBL):c.1008+4_1008+5inv
NM_006393.3(NEBL):c.1008+5A>T
NM_006393.3(NEBL):c.1008+8C>T rs376842299
NM_006393.3(NEBL):c.1009-10T>C rs1842402338
NM_006393.3(NEBL):c.1009-6A>G
NM_006393.3(NEBL):c.1009-9C>A rs761381479
NM_006393.3(NEBL):c.1009G>T (p.Val337Leu)
NM_006393.3(NEBL):c.1020del (p.Glu341fs) rs2131052910
NM_006393.3(NEBL):c.1021GAA[1] (p.Glu342del)
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.1039A>G (p.Lys347Glu) rs1842398385
NM_006393.3(NEBL):c.1062T>G (p.Phe354Leu) rs996916612
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.1076C>T (p.Ser359Leu) rs1842393771
NM_006393.3(NEBL):c.1088C>T (p.Ser363Leu) rs747086170
NM_006393.3(NEBL):c.1099C>G (p.Gln367Glu)
NM_006393.3(NEBL):c.1104G>C (p.Lys368Asn) rs2131051844
NM_006393.3(NEBL):c.1112G>A (p.Ser371Asn)
NM_006393.3(NEBL):c.1117-17G>T
NM_006393.3(NEBL):c.1119A>G (p.Lys373=) rs1381516485
NM_006393.3(NEBL):c.1123del (p.Tyr375fs)
NM_006393.3(NEBL):c.1125C>T (p.Tyr375=)
NM_006393.3(NEBL):c.1129G>T (p.Glu377Ter)
NM_006393.3(NEBL):c.113G>A (p.Ser38Asn)
NM_006393.3(NEBL):c.1156dup (p.Arg386fs) rs1554784067
NM_006393.3(NEBL):c.116T>C (p.Met39Thr)
NM_006393.3(NEBL):c.1174G>A (p.Asp392Asn) rs1588767821
NM_006393.3(NEBL):c.1189T>G (p.Phe397Val)
NM_006393.3(NEBL):c.1195C>T (p.His399Tyr)
NM_006393.3(NEBL):c.1197T>G (p.His399Gln) rs903764018
NM_006393.3(NEBL):c.1198G>A (p.Val400Ile)
NM_006393.3(NEBL):c.1206C>T (p.Tyr402=)
NM_006393.3(NEBL):c.1212C>T (p.Thr404=)
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.1227+1G>A rs1841789797
NM_006393.3(NEBL):c.1227+5G>C rs370026081
NM_006393.3(NEBL):c.1228-1338del rs1841465820
NM_006393.3(NEBL):c.1228-13T>A rs2130972710
NM_006393.3(NEBL):c.1228-3T>C rs1588750815
NM_006393.3(NEBL):c.1228-4A>G
NM_006393.3(NEBL):c.1228-4A>T
NM_006393.3(NEBL):c.1228-6_1228-5del
NM_006393.3(NEBL):c.1232A>C (p.Glu411Ala)
NM_006393.3(NEBL):c.1234T>A (p.Tyr412Asn)
NM_006393.3(NEBL):c.1234T>C (p.Tyr412His)
NM_006393.3(NEBL):c.1241A>C (p.Lys414Thr)
NM_006393.3(NEBL):c.1243G>A (p.Asp415Asn)
NM_006393.3(NEBL):c.1244A>C (p.Asp415Ala)
NM_006393.3(NEBL):c.1246T>A (p.Leu416Met)
NM_006393.3(NEBL):c.1250A>G (p.Glu417Gly)
NM_006393.3(NEBL):c.1252A>G (p.Asn418Asp)
NM_006393.3(NEBL):c.1253del (p.Asn418fs) rs768079285
NM_006393.3(NEBL):c.1259T>C (p.Ile420Thr) rs1841346894
NM_006393.3(NEBL):c.1269A>G (p.Lys423=) rs138932199
NM_006393.3(NEBL):c.1269A>T (p.Lys423Asn) rs138932199
NM_006393.3(NEBL):c.1274T>C (p.Met425Thr)
NM_006393.3(NEBL):c.1279C>G (p.Leu427Val)
NM_006393.3(NEBL):c.1287A>C (p.Ser429=)
NM_006393.3(NEBL):c.1300A>C (p.Ile434Leu)
NM_006393.3(NEBL):c.1307G>A (p.Arg436Lys)
NM_006393.3(NEBL):c.1308A>G (p.Arg436=)
NM_006393.3(NEBL):c.1311A>G (p.Ala437=) rs901799820
NM_006393.3(NEBL):c.1315C>T (p.Arg439Ter)
NM_006393.3(NEBL):c.1318G>A (p.Ala440Thr)
NM_006393.3(NEBL):c.1319C>A (p.Ala440Asp)
NM_006393.3(NEBL):c.1322C>G (p.Ser441Cys) rs1841337096
NM_006393.3(NEBL):c.1332A>C (p.Ala444=)
NM_006393.3(NEBL):c.1338+19C>T rs2130970836
NM_006393.3(NEBL):c.1338+2377C>T
NM_006393.3(NEBL):c.1339-11G>A
NM_006393.3(NEBL):c.1339-3C>G
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.1365_1366del (p.Ile456fs) rs1554781158
NM_006393.3(NEBL):c.136A>G (p.Thr46Ala) rs751607557
NM_006393.3(NEBL):c.1377G>T (p.Gly459=) rs1310607610
NM_006393.3(NEBL):c.1378A>G (p.Lys460Glu)
NM_006393.3(NEBL):c.137C>T (p.Thr46Met)
NM_006393.3(NEBL):c.1391_1392delinsGG (p.Ala464Gly) rs2130934659
NM_006393.3(NEBL):c.1401C>G (p.Asp467Glu) rs769479569
NM_006393.3(NEBL):c.1414C>T (p.Gln472Ter)
NM_006393.3(NEBL):c.1424A>G (p.Lys475Arg)
NM_006393.3(NEBL):c.1429G>A (p.Ala477Thr)
NM_006393.3(NEBL):c.1431_1437del (p.Ala477_Ala478insTer)
NM_006393.3(NEBL):c.1434A>G (p.Ala478=) rs2130934253
NM_006393.3(NEBL):c.1439T>C (p.Ile480Thr)
NM_006393.3(NEBL):c.1442C>A (p.Ala481Glu)
NM_006393.3(NEBL):c.1444A>C (p.Ser482Arg)
NM_006393.3(NEBL):c.1447G>A (p.Glu483Lys)
NM_006393.3(NEBL):c.1449+12G>A
NM_006393.3(NEBL):c.144C>T (p.Leu48=)
NM_006393.3(NEBL):c.1450-11A>G rs749398135
NM_006393.3(NEBL):c.1450-18A>T
NM_006393.3(NEBL):c.1450-4G>A rs756328675
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.1469T>C (p.Leu490Pro) rs1840423988
NM_006393.3(NEBL):c.1473G>A (p.Glu491=)
NM_006393.3(NEBL):c.1473G>T (p.Glu491Asp)
NM_006393.3(NEBL):c.1475C>G (p.Thr492Ser) rs1299663441
NM_006393.3(NEBL):c.1478A>G (p.Glu493Gly)
NM_006393.3(NEBL):c.1481T>G (p.Ile494Ser)
NM_006393.3(NEBL):c.1491A>G (p.Lys497=)
NM_006393.3(NEBL):c.1496T>G (p.Met499Arg) rs727504620
NM_006393.3(NEBL):c.1508_1509del (p.Thr503fs)
NM_006393.3(NEBL):c.150C>T (p.Ser50=) rs1465019438
NM_006393.3(NEBL):c.1510_1513del (p.Asp504fs) rs745728544
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.151G>A (p.Asp51Asn) rs1269179367
NM_006393.3(NEBL):c.1526A>G (p.Gln509Arg)
NM_006393.3(NEBL):c.152A>T (p.Asp51Val)
NM_006393.3(NEBL):c.153+12G>T rs761120845
NM_006393.3(NEBL):c.153+1G>A
NM_006393.3(NEBL):c.153+8G>C rs1588971724
NM_006393.3(NEBL):c.1533T>G (p.Ala511=)
NM_006393.3(NEBL):c.1536G>A (p.Lys512=)
NM_006393.3(NEBL):c.154-13T>G
NM_006393.3(NEBL):c.154-3dup rs751577413
NM_006393.3(NEBL):c.1545C>T (p.Ser515=)
NM_006393.3(NEBL):c.1549A>T (p.Met517Leu) rs1430856878
NM_006393.3(NEBL):c.154A>G (p.Ile52Val)
NM_006393.3(NEBL):c.1560+18T>A rs1210297527
NM_006393.3(NEBL):c.1560+18T>C
NM_006393.3(NEBL):c.1560+2T>C
NM_006393.3(NEBL):c.1560+7C>G
NM_006393.3(NEBL):c.1560+9G>A
NM_006393.3(NEBL):c.1561-12C>A
NM_006393.3(NEBL):c.1561-5T>C
NM_006393.3(NEBL):c.1563del (p.Lys521fs) rs1840390408
NM_006393.3(NEBL):c.1566A>G (p.Gln522=)
NM_006393.3(NEBL):c.1572del (p.Lys525fs) rs879600856
NM_006393.3(NEBL):c.1580T>C (p.Leu527Ser)
NM_006393.3(NEBL):c.1584A>C (p.Glu528Asp) rs1840387740
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.1604G>A (p.Gly535Glu)
NM_006393.3(NEBL):c.1608G>A (p.Met536Ile)
NM_006393.3(NEBL):c.1612G>T (p.Val538Leu)
NM_006393.3(NEBL):c.1614G>A (p.Val538=) rs1840384699
NM_006393.3(NEBL):c.1616G>A (p.Ser539Asn)
NM_006393.3(NEBL):c.1618A>G (p.Met540Val)
NM_006393.3(NEBL):c.161A>G (p.Tyr54Cys)
NM_006393.3(NEBL):c.161A>T (p.Tyr54Phe)
NM_006393.3(NEBL):c.1621G>T (p.Asp541Tyr)
NM_006393.3(NEBL):c.1636C>T (p.Leu546Phe)
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln) rs747238199
NM_006393.3(NEBL):c.1640G>C (p.Arg547Pro)
NM_006393.3(NEBL):c.1643C>G (p.Ala548Gly) rs2130907056
NM_006393.3(NEBL):c.1644C>T (p.Ala548=)
NM_006393.3(NEBL):c.1670A>T (p.Gln557Leu)
NM_006393.3(NEBL):c.1671+18A>G
NM_006393.3(NEBL):c.1671+20G>A
NM_006393.3(NEBL):c.1671+261_1671+262dup rs371760760
NM_006393.3(NEBL):c.1671+261_1671+263dup rs371760760
NM_006393.3(NEBL):c.1671+261_1671+264dup rs371760760
NM_006393.3(NEBL):c.1671+279_1671+283dup rs371760760
NM_006393.3(NEBL):c.1671+283del rs371760760
NM_006393.3(NEBL):c.1671+4G>A rs528164655
NM_006393.3(NEBL):c.1671+5G>C
NM_006393.3(NEBL):c.1672-133_1672-132insCC rs35213426
NM_006393.3(NEBL):c.1672-149CT[10] rs10631047
NM_006393.3(NEBL):c.1672-15T>C
NM_006393.3(NEBL):c.1672-3T>C rs1554779376
NM_006393.3(NEBL):c.1672-5T>G
NM_006393.3(NEBL):c.1672A>C (p.Arg558=) rs944343501
NM_006393.3(NEBL):c.1677G>T (p.Lys559Asn) rs1013844942
NM_006393.3(NEBL):c.1691C>T (p.Ala564Val) rs1840109648
NM_006393.3(NEBL):c.1696A>C (p.Lys566Gln) rs1060503680
NM_006393.3(NEBL):c.169G>C (p.Glu57Gln)
NM_006393.3(NEBL):c.1712A>G (p.Tyr571Cys)
NM_006393.3(NEBL):c.1722A>G (p.Ile574Met)
NM_006393.3(NEBL):c.1723G>A (p.Ala575Thr)
NM_006393.3(NEBL):c.1732C>T (p.Pro578Ser)
NM_006393.3(NEBL):c.173_174del (p.Glu57_Phe58insTer) rs1846880633
NM_006393.3(NEBL):c.1756A>G (p.Thr586Ala)
NM_006393.3(NEBL):c.1758_1762del (p.Gln587fs) rs758450195
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.1777-19T>A
NM_006393.3(NEBL):c.1777-19T>C
NM_006393.3(NEBL):c.1779A>T (p.Val593=)
NM_006393.3(NEBL):c.1783T>G (p.Tyr595Asp) rs2130874323
NM_006393.3(NEBL):c.1785T>C (p.Tyr595=)
NM_006393.3(NEBL):c.1790A>C (p.Lys597Thr)
NM_006393.3(NEBL):c.1800A>G (p.Gly600=)
NM_006393.3(NEBL):c.1803T>C (p.Ala601=) rs2130874098
NM_006393.3(NEBL):c.1810G>A (p.Ala604Thr)
NM_006393.3(NEBL):c.1821T>C (p.Asp607=)
NM_006393.3(NEBL):c.1827A>G (p.Pro609=) rs1588701613
NM_006393.3(NEBL):c.1831A>G (p.Ile611Val)
NM_006393.3(NEBL):c.1833C>T (p.Ile611=)
NM_006393.3(NEBL):c.1837C>A (p.Arg613=) rs146471913
NM_006393.3(NEBL):c.1837C>G (p.Arg613Gly)
NM_006393.3(NEBL):c.1859A>G (p.Asn620Ser)
NM_006393.3(NEBL):c.1860T>C (p.Asn620=)
NM_006393.3(NEBL):c.1869+10C>G
NM_006393.3(NEBL):c.1869+11T>C
NM_006393.3(NEBL):c.1869+16C>A rs758601320
NM_006393.3(NEBL):c.1869+5G>A rs1346776842
NM_006393.3(NEBL):c.1869A>G (p.Ser623=)
NM_006393.3(NEBL):c.1870-19A>G
NM_006393.3(NEBL):c.1870-1G>T rs112010030
NM_006393.3(NEBL):c.1870-20T>G
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.1906A>G (p.Ile636Val) rs1564356559
NM_006393.3(NEBL):c.1916C>T (p.Pro639Leu)
NM_006393.3(NEBL):c.1928del (p.Lys643fs) rs754334553
NM_006393.3(NEBL):c.1933G>A (p.Val645Ile) rs1169892636
NM_006393.3(NEBL):c.1940A>G (p.Glu647Gly)
NM_006393.3(NEBL):c.1942A>C (p.Asn648His)
NM_006393.3(NEBL):c.1943dup (p.Asn648fs)
NM_006393.3(NEBL):c.1948A>G (p.Lys650Glu)
NM_006393.3(NEBL):c.1952A>C (p.Asn651Thr)
NM_006393.3(NEBL):c.1953C>T (p.Asn651=) rs1180920699
NM_006393.3(NEBL):c.1961A>G (p.Asn654Ser)
NM_006393.3(NEBL):c.1962+10T>A
NM_006393.3(NEBL):c.1962+14T>G rs1292029849
NM_006393.3(NEBL):c.1963-18T>C rs2130828306
NM_006393.3(NEBL):c.1963-216CAA[7] rs143964236
NM_006393.3(NEBL):c.1963-3C>T rs727504683
NM_006393.3(NEBL):c.1963-7C>G
NM_006393.3(NEBL):c.1965C>G (p.Leu655=)
NM_006393.3(NEBL):c.1976A>G (p.Glu659Gly)
NM_006393.3(NEBL):c.1983C>G (p.Asn661Lys)
NM_006393.3(NEBL):c.1987A>C (p.Lys663Gln) rs751064460
NM_006393.3(NEBL):c.198A>C (p.Thr66=)
NM_006393.3(NEBL):c.1990G>T (p.Ala664Ser) rs2130827997
NM_006393.3(NEBL):c.1994C>T (p.Thr665Ile)
NM_006393.3(NEBL):c.2010C>T (p.Thr670=)
NM_006393.3(NEBL):c.2015A>T (p.Glu672Val)
NM_006393.3(NEBL):c.201T>C (p.Phe67=)
NM_006393.3(NEBL):c.2020G>A (p.Glu674Lys)
NM_006393.3(NEBL):c.2024G>A (p.Arg675Lys) rs1839060822
NM_006393.3(NEBL):c.2032C>T (p.Arg678Ter)
NM_006393.3(NEBL):c.2041_2043dup (p.Glu681_Gln682insGlu)
NM_006393.3(NEBL):c.2050A>C (p.Ser684Arg)
NM_006393.3(NEBL):c.2051G>A (p.Ser684Asn)
NM_006393.3(NEBL):c.2055+12_2055+13del
NM_006393.3(NEBL):c.2055+15T>C rs2130827080
NM_006393.3(NEBL):c.2055+7C>A rs368793318
NM_006393.3(NEBL):c.2149-2A>C rs367588562
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.2164C>A (p.Gln722Lys) rs1459943747
NM_006393.3(NEBL):c.2176G>A (p.Ala726Thr) rs397517205
NM_006393.3(NEBL):c.2177C>A (p.Ala726Asp)
NM_006393.3(NEBL):c.2181C>T (p.Thr727=)
NM_006393.3(NEBL):c.2183C>T (p.Thr728Ile)
NM_006393.3(NEBL):c.2191G>A (p.Val731Ile)
NM_006393.3(NEBL):c.2192dup (p.Thr732fs)
NM_006393.3(NEBL):c.2196T>G (p.Thr732=)
NM_006393.3(NEBL):c.21G>A (p.Glu7=) rs1767961581
NM_006393.3(NEBL):c.2225A>C (p.Gln742Pro)
NM_006393.3(NEBL):c.2230A>C (p.Asn744His) rs2130804609
NM_006393.3(NEBL):c.2237G>C (p.Ser746Thr)
NM_006393.3(NEBL):c.2241+18T>C
NM_006393.3(NEBL):c.2241+1G>A
NM_006393.3(NEBL):c.2242-1G>A
NM_006393.3(NEBL):c.2242-4G>T
NM_006393.3(NEBL):c.2252C>T (p.Thr751Ile)
NM_006393.3(NEBL):c.2260C>G (p.His754Asp) rs876661379
NM_006393.3(NEBL):c.2262_2275del (p.His754fs)
NM_006393.3(NEBL):c.2266C>T (p.Gln756Ter)
NM_006393.3(NEBL):c.2267A>C (p.Gln756Pro)
NM_006393.3(NEBL):c.2268G>A (p.Gln756=)
NM_006393.3(NEBL):c.2271G>A (p.Met757Ile) rs794729079
NM_006393.3(NEBL):c.2273A>G (p.Lys758Arg)
NM_006393.3(NEBL):c.2275G>C (p.Gly759Arg)
NM_006393.3(NEBL):c.2281C>G (p.Pro761Ala)
NM_006393.3(NEBL):c.2287C>G (p.Leu763Val) rs768389033
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=)
NM_006393.3(NEBL):c.2301A>T (p.Thr767=)
NM_006393.3(NEBL):c.2313A>T (p.Arg771Ser)
NM_006393.3(NEBL):c.2315A>T (p.His772Leu)
NM_006393.3(NEBL):c.2332A>T (p.Asn778Tyr)
NM_006393.3(NEBL):c.2335C>A (p.His779Asn) rs1438423663
NM_006393.3(NEBL):c.2343A>C (p.Ser781=)
NM_006393.3(NEBL):c.2344A>T (p.Met782Leu)
NM_006393.3(NEBL):c.2346+18C>A
NM_006393.3(NEBL):c.2346+5G>A
NM_006393.3(NEBL):c.2347-18T>C rs2130788646
NM_006393.3(NEBL):c.2347G>A (p.Val783Ile)
NM_006393.3(NEBL):c.2358T>C (p.His786=)
NM_006393.3(NEBL):c.2363A>G (p.Asp788Gly)
NM_006393.3(NEBL):c.2364T>C (p.Asp788=) rs1838317526
NM_006393.3(NEBL):c.2365T>A (p.Phe789Ile) rs1564345984
NM_006393.3(NEBL):c.2370A>G (p.Glu790=)
NM_006393.3(NEBL):c.2386G>A (p.Gly796Ser)
NM_006393.3(NEBL):c.2391T>G (p.Phe797Leu) rs1060503681
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.2418A>G (p.Thr806=) rs2130787886
NM_006393.3(NEBL):c.241G>T (p.Gly81Cys) rs369862013
NM_006393.3(NEBL):c.2424A>C (p.Arg808Ser)
NM_006393.3(NEBL):c.2428A>G (p.Arg810Gly)
NM_006393.3(NEBL):c.242G>A (p.Gly81Asp) rs1442801795
NM_006393.3(NEBL):c.242del (p.Gly81fs)
NM_006393.3(NEBL):c.2433G>A (p.Lys811=)
NM_006393.3(NEBL):c.2439C>A (p.Thr813=) rs757884238
NM_006393.3(NEBL):c.2439C>T (p.Thr813=)
NM_006393.3(NEBL):c.2446G>A (p.Val816Ile) rs2130787684
NM_006393.3(NEBL):c.2448C>T (p.Val816=)
NM_006393.3(NEBL):c.2452G>A (p.Asp818Asn)
NM_006393.3(NEBL):c.2465A>T (p.Lys822Ile)
NM_006393.3(NEBL):c.2467G>A (p.Gly823Arg)
NM_006393.3(NEBL):c.2468G>A (p.Gly823Glu) rs2130787472
NM_006393.3(NEBL):c.2470G>C (p.Val824Leu)
NM_006393.3(NEBL):c.2473C>T (p.His825Tyr) rs1554774990
NM_006393.3(NEBL):c.2475C>T (p.His825=) rs727503334
NM_006393.3(NEBL):c.2480A>G (p.His827Arg) rs372763596
NM_006393.3(NEBL):c.2481C>G (p.His827Gln)
NM_006393.3(NEBL):c.2483T>A (p.Ile828Asn) rs2130787312
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.2501G>A (p.Arg834Lys)
NM_006393.3(NEBL):c.2503C>A (p.Pro835Thr)
NM_006393.3(NEBL):c.250A>T (p.Ile84Phe)
NM_006393.3(NEBL):c.2511C>T (p.Ile837=)
NM_006393.3(NEBL):c.2515G>A (p.Val839Ile)
NM_006393.3(NEBL):c.2517T>G (p.Val839=)
NM_006393.3(NEBL):c.2518+10C>A rs747607700
NM_006393.3(NEBL):c.2518+13C>T
NM_006393.3(NEBL):c.2519-1G>A
NM_006393.3(NEBL):c.2519-1G>T
NM_006393.3(NEBL):c.2519-209G>T rs80182205
NM_006393.3(NEBL):c.2519-2A>G
NM_006393.3(NEBL):c.2519-2del rs754453916
NM_006393.3(NEBL):c.2519-3A>G rs1396613955
NM_006393.3(NEBL):c.2534G>A (p.Arg845His) rs761052528
NM_006393.3(NEBL):c.2543C>T (p.Pro848Leu) rs1837961214
NM_006393.3(NEBL):c.2556C>T (p.Phe852=)
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.258+3A>G
NM_006393.3(NEBL):c.259-10T>C
NM_006393.3(NEBL):c.259-19C>G
NM_006393.3(NEBL):c.259-21_259-15delinsCCTGG rs1554799332
NM_006393.3(NEBL):c.259-21del rs67288319
NM_006393.3(NEBL):c.259-2A>G
NM_006393.3(NEBL):c.259-6_259-5insT
NM_006393.3(NEBL):c.259-7C>G rs201590910
NM_006393.3(NEBL):c.259-7C>T
NM_006393.3(NEBL):c.259-9_259-8dup
NM_006393.3(NEBL):c.2591G>C (p.Arg864Thr)
NM_006393.3(NEBL):c.2598C>T (p.Leu866=)
NM_006393.3(NEBL):c.2599C>T (p.His867Tyr)
NM_006393.3(NEBL):c.259G>A (p.Ala87Thr) rs368856187
NM_006393.3(NEBL):c.2607C>T (p.Leu869=) rs773544548
NM_006393.3(NEBL):c.2611+20T>C
NM_006393.3(NEBL):c.2611+7C>T rs2130768866
NM_006393.3(NEBL):c.2611+8T>G rs2130768850
NM_006393.3(NEBL):c.2612-6A>G rs377317796
NM_006393.3(NEBL):c.2614A>G (p.Lys872Glu)
NM_006393.3(NEBL):c.2616G>T (p.Lys872Asn) rs869025491
NM_006393.3(NEBL):c.2618C>T (p.Ala873Val)
NM_006393.3(NEBL):c.2631G>A (p.Arg877=)
NM_006393.3(NEBL):c.2643T>C (p.Ser881=)
NM_006393.3(NEBL):c.2645G>T (p.Arg882Leu) rs758877499
NM_006393.3(NEBL):c.2653T>C (p.Ser885Pro)
NM_006393.3(NEBL):c.2658C>G (p.Ser886Arg)
NM_006393.3(NEBL):c.2658C>T (p.Ser886=)
NM_006393.3(NEBL):c.2660G>C (p.Ser887Thr)
NM_006393.3(NEBL):c.2674G>T (p.Gly892Cys)
NM_006393.3(NEBL):c.2680G>A (p.Gly894Arg)
NM_006393.3(NEBL):c.2682A>G (p.Gly894=) rs1334949712
NM_006393.3(NEBL):c.2683GAC[1] (p.Asp896del) rs1837836867
NM_006393.3(NEBL):c.2684A>C (p.Asp895Ala)
NM_006393.3(NEBL):c.2686G>A (p.Asp896Asn)
NM_006393.3(NEBL):c.2686dup (p.Asp896fs) rs766320208
NM_006393.3(NEBL):c.2689A>G (p.Arg897Gly) rs2130760889
NM_006393.3(NEBL):c.2691G>A (p.Arg897=)
NM_006393.3(NEBL):c.2699T>A (p.Ile900Asn)
NM_006393.3(NEBL):c.2699_2700delinsAA (p.Ile900Lys)
NM_006393.3(NEBL):c.2700C>A (p.Ile900=)
NM_006393.3(NEBL):c.2725T>C (p.Cys909Arg)
NM_006393.3(NEBL):c.2726G>A (p.Cys909Tyr)
NM_006393.3(NEBL):c.272G>A (p.Gly91Asp)
NM_006393.3(NEBL):c.2734G>A (p.Glu912Lys)
NM_006393.3(NEBL):c.2737G>A (p.Val913Ile) rs1564341986
NM_006393.3(NEBL):c.2740A>T (p.Thr914Ser) rs1369499702
NM_006393.3(NEBL):c.2747C>T (p.Pro916Leu) rs143149169
NM_006393.3(NEBL):c.2748G>T (p.Pro916=) rs778128527
NM_006393.3(NEBL):c.275C>G (p.Thr92Ser)
NM_006393.3(NEBL):c.2761+160dup rs1187450894
NM_006393.3(NEBL):c.2761+227C>G rs10828135
NM_006393.3(NEBL):c.2762-279del rs3215820
NM_006393.3(NEBL):c.2762-48G>C rs2697027
NM_006393.3(NEBL):c.2762-7C>T rs1588590374
NM_006393.3(NEBL):c.276del (p.Ile93fs) rs1554799292
NM_006393.3(NEBL):c.2771T>A (p.Leu924His)
NM_006393.3(NEBL):c.2776G>A (p.Gly926Arg)
NM_006393.3(NEBL):c.2777G>C (p.Gly926Ala)
NM_006393.3(NEBL):c.2778A>T (p.Gly926=) rs1835500948
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.2814C>T (p.Tyr938=)
NM_006393.3(NEBL):c.2816T>A (p.Met939Lys)
NM_006393.3(NEBL):c.2823G>A (p.Gln941=)
NM_006393.3(NEBL):c.2830G>A (p.Val944Met)
NM_006393.3(NEBL):c.2833_2841del (p.Ser945_Met947del)
NM_006393.3(NEBL):c.2839A>C (p.Met947Leu)
NM_006393.3(NEBL):c.2847A>G (p.Ser949=)
NM_006393.3(NEBL):c.2847A>T (p.Ser949=) rs1060504994
NM_006393.3(NEBL):c.2849T>C (p.Met950Thr) rs1835493262
NM_006393.3(NEBL):c.284C>G (p.Ala95Gly) rs769868347
NM_006393.3(NEBL):c.2851C>T (p.Gln951Ter) rs2131619034
NM_006393.3(NEBL):c.2864dup (p.Asn955fs) rs2131618949
NM_006393.3(NEBL):c.2868+11A>C rs2131618868
NM_006393.3(NEBL):c.2869-9C>T
NM_006393.3(NEBL):c.2876A>G (p.Tyr959Cys)
NM_006393.3(NEBL):c.2890G>A (p.Asp964Asn)
NM_006393.3(NEBL):c.2895C>T (p.Tyr965=) rs2131613989
NM_006393.3(NEBL):c.2897G>T (p.Ser966Ile)
NM_006393.3(NEBL):c.28A>G (p.Lys10Glu)
NM_006393.3(NEBL):c.2903A>G (p.Gln968Arg)
NM_006393.3(NEBL):c.2905G>T (p.Asp969Tyr) rs1588586303
NM_006393.3(NEBL):c.2906A>G (p.Asp969Gly) rs2131613917
NM_006393.3(NEBL):c.2932G>A (p.Gly978Ser) rs1835362564
NM_006393.3(NEBL):c.2934C>T (p.Gly978=)
NM_006393.3(NEBL):c.2935G>A (p.Asp979Asn)
NM_006393.3(NEBL):c.2943C>A (p.Ile981=)
NM_006393.3(NEBL):c.2944G>A (p.Val982Ile)
NM_006393.3(NEBL):c.2947A>G (p.Asn983Asp) rs1835360345
NM_006393.3(NEBL):c.2949C>T (p.Asn983=)
NM_006393.3(NEBL):c.294T>A (p.Ser98=) rs771269408
NM_006393.3(NEBL):c.2955G>T (p.Gln985His) rs201571938
NM_006393.3(NEBL):c.2965G>A (p.Asp989Asn)
NM_006393.3(NEBL):c.2966A>G (p.Asp989Gly)
NM_006393.3(NEBL):c.2979C>T (p.Tyr993=)
NM_006393.3(NEBL):c.297T>G (p.Asn99Lys) rs1363794425
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.3013C>T (p.Leu1005Phe)
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>C (p.Phe1012=)
NM_006393.3(NEBL):c.3036T>G (p.Phe1012Leu)
NM_006393.3(NEBL):c.3043T>C (p.Ter1015Gln) rs763015983
NM_006393.3(NEBL):c.311G>T (p.Arg104Leu)
NM_006393.3(NEBL):c.312G>T (p.Arg104=)
NM_006393.3(NEBL):c.327T>C (p.Ile109=)
NM_006393.3(NEBL):c.342A>G (p.Ala114=)
NM_006393.3(NEBL):c.344_346del (p.Gly115del) rs773042028
NM_006393.3(NEBL):c.347A>C (p.Glu116Ala)
NM_006393.3(NEBL):c.348dup (p.Val117fs) rs1356025751
NM_006393.3(NEBL):c.352A>T (p.Thr118Ser)
NM_006393.3(NEBL):c.359T>C (p.Leu120Pro)
NM_006393.3(NEBL):c.366T>A (p.Ser122Arg)
NM_006393.3(NEBL):c.369+12C>T
NM_006393.3(NEBL):c.369+18T>C rs771142727
NM_006393.3(NEBL):c.369+1G>A
NM_006393.3(NEBL):c.369+4G>A
NM_006393.3(NEBL):c.370-10T>C
NM_006393.3(NEBL):c.370-19A>C
NM_006393.3(NEBL):c.370-264del rs370456204
NM_006393.3(NEBL):c.370-2A>G
NM_006393.3(NEBL):c.373G>A (p.Ala125Thr)
NM_006393.3(NEBL):c.383A>G (p.Gln128Arg) rs139809958
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu) rs139809958
NM_006393.3(NEBL):c.390T>C (p.His130=) rs1462163062
NM_006393.3(NEBL):c.405A>C (p.Gly135=) rs1588924846
NM_006393.3(NEBL):c.408C>T (p.Phe136=)
NM_006393.3(NEBL):c.418G>C (p.Ala140Pro) rs2131316427
NM_006393.3(NEBL):c.419C>G (p.Ala140Gly)
NM_006393.3(NEBL):c.424A>G (p.Met142Val)
NM_006393.3(NEBL):c.434C>T (p.Pro145Leu) rs1845953617
NM_006393.3(NEBL):c.439G>A (p.Glu147Lys)
NM_006393.3(NEBL):c.448C>T (p.His150Tyr)
NM_006393.3(NEBL):c.451G>A (p.Ala151Thr)
NM_006393.3(NEBL):c.454A>G (p.Met152Val)
NM_006393.3(NEBL):c.455T>C (p.Met152Thr)
NM_006393.3(NEBL):c.456G>A (p.Met152Ile) rs1238447316
NM_006393.3(NEBL):c.464A>G (p.Asn155Ser)
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.479A>G (p.Asn160Ser)
NM_006393.3(NEBL):c.480+10C>A rs377230358
NM_006393.3(NEBL):c.480+10C>T rs377230358
NM_006393.3(NEBL):c.480+15_480+16del rs1064794541
NM_006393.3(NEBL):c.480+9G>A rs2131315618
NM_006393.3(NEBL):c.480T>G (p.Asn160Lys)
NM_006393.3(NEBL):c.481-10C>T
NM_006393.3(NEBL):c.481-14C>G
NM_006393.3(NEBL):c.481-18A>T
NM_006393.3(NEBL):c.481-6G>A rs1286250524
NM_006393.3(NEBL):c.496G>C (p.Asp166His) rs780036701
NM_006393.3(NEBL):c.498C>A (p.Asp166Glu) rs371105861
NM_006393.3(NEBL):c.502C>G (p.Gln168Glu)
NM_006393.3(NEBL):c.505_526dup (p.Glu176fs)
NM_006393.3(NEBL):c.509C>T (p.Thr170Ile) rs1564404256
NM_006393.3(NEBL):c.515C>T (p.Thr172Met) rs548438161
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.53T>C (p.Ile18Thr)
NM_006393.3(NEBL):c.540A>G (p.Pro180=) rs2131238828
NM_006393.3(NEBL):c.549G>A (p.Lys183=)
NM_006393.3(NEBL):c.558C>A (p.Thr186=) rs1844724636
NM_006393.3(NEBL):c.55G>C (p.Gly19Arg)
NM_006393.3(NEBL):c.574A>G (p.Ile192Val) rs758465790
NM_006393.3(NEBL):c.582+14C>T
NM_006393.3(NEBL):c.582+15T>C
NM_006393.3(NEBL):c.583-70del rs5783755
NM_006393.3(NEBL):c.583-84_583-81del rs201628197
NM_006393.3(NEBL):c.583-84_583-83del rs375190077
NM_006393.3(NEBL):c.58G>A (p.Glu20Lys) rs2131413901
NM_006393.3(NEBL):c.590A>G (p.Tyr197Cys)
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.640C>A (p.Pro214Thr)
NM_006393.3(NEBL):c.641C>T (p.Pro214Leu)
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.658G>A (p.Val220Met) rs571563897
NM_006393.3(NEBL):c.658G>T (p.Val220Leu) rs571563897
NM_006393.3(NEBL):c.65A>G (p.Glu22Gly)
NM_006393.3(NEBL):c.675T>C (p.Leu225=)
NM_006393.3(NEBL):c.67_72del (p.Asn23_Glu24del) rs778962398
NM_006393.3(NEBL):c.685-11T>C
NM_006393.3(NEBL):c.685-15T>G
NM_006393.3(NEBL):c.685-260G>C rs703094
NM_006393.3(NEBL):c.685-305T>A rs71541567
NM_006393.3(NEBL):c.687T>G (p.Ile229Met) rs768661641
NM_006393.3(NEBL):c.692A>T (p.Tyr231Phe) rs920640841
NM_006393.3(NEBL):c.700A>G (p.Lys234Glu) rs568662113
NM_006393.3(NEBL):c.709A>G (p.Asn237Asp) rs1588846853
NM_006393.3(NEBL):c.711T>C (p.Asn237=) rs2131147146
NM_006393.3(NEBL):c.718A>G (p.Lys240Glu)
NM_006393.3(NEBL):c.722A>T (p.Asp241Val)
NM_006393.3(NEBL):c.729A>G (p.Lys243=)
NM_006393.3(NEBL):c.72AGA[1] (p.Glu25del) rs794729080
NM_006393.3(NEBL):c.732T>A (p.His244Gln) rs1843479030
NM_006393.3(NEBL):c.738C>G (p.Tyr246Ter) rs778455217
NM_006393.3(NEBL):c.755C>T (p.Ala252Val) rs2131146354
NM_006393.3(NEBL):c.765_766delinsAA (p.Gln256Lys) rs1843470481
NM_006393.3(NEBL):c.773A>G (p.Gln258Arg) rs924565857
NM_006393.3(NEBL):c.791C>T (p.Ala264Val) rs548922223
NM_006393.3(NEBL):c.798+12T>A
NM_006393.3(NEBL):c.798+14C>T rs968358305
NM_006393.3(NEBL):c.798+17A>G rs1021328811
NM_006393.3(NEBL):c.799-12T>C
NM_006393.3(NEBL):c.799-15A>C
NM_006393.3(NEBL):c.801G>T (p.Val267=)
NM_006393.3(NEBL):c.81+16_81+17del rs2131413510
NM_006393.3(NEBL):c.81+18_81+23del
NM_006393.3(NEBL):c.81+20C>T
NM_006393.3(NEBL):c.814G>C (p.Asp272His)
NM_006393.3(NEBL):c.816C>T (p.Asp272=)
NM_006393.3(NEBL):c.82-15T>C rs2131413042
NM_006393.3(NEBL):c.82-8dup
NM_006393.3(NEBL):c.822A>G (p.Gln274=)
NM_006393.3(NEBL):c.826A>G (p.Met276Val) rs1373986579
NM_006393.3(NEBL):c.828G>A (p.Met276Ile)
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.853A>G (p.Asn285Asp) rs1843299381
NM_006393.3(NEBL):c.858G>C (p.Leu286Phe)
NM_006393.3(NEBL):c.858G>T (p.Leu286Phe) rs765274802
NM_006393.3(NEBL):c.858GTT[1] (p.Leu287del) rs757466908
NM_006393.3(NEBL):c.863T>A (p.Phe288Tyr)
NM_006393.3(NEBL):c.863T>C (p.Phe288Ser)
NM_006393.3(NEBL):c.870C>T (p.Asp290=) rs1843296570
NM_006393.3(NEBL):c.903+13T>A rs780937421
NM_006393.3(NEBL):c.903+18C>A
NM_006393.3(NEBL):c.903+1G>A rs775057540
NM_006393.3(NEBL):c.903+2del rs1588839902
NM_006393.3(NEBL):c.903+4dup rs1564391383
NM_006393.3(NEBL):c.904-274G>C rs703090
NM_006393.3(NEBL):c.905G>A (p.Arg302Gln)
NM_006393.3(NEBL):c.918G>A (p.Lys306=)
NM_006393.3(NEBL):c.940A>G (p.Met314Val)
NM_006393.3(NEBL):c.942G>A (p.Met314Ile)
NM_006393.3(NEBL):c.959A>G (p.Asp320Gly)
NM_006393.3(NEBL):c.962C>T (p.Ala321Val) rs1842659148
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.976C>T (p.His326Tyr) rs1232048555
NM_006393.3(NEBL):c.980A>G (p.His327Arg)
NM_006393.3(NEBL):c.997C>T (p.Leu333Phe)
NM_213569.2(NEBL):c.-138GC[1] rs778464499
NM_213569.2(NEBL):c.-241GAGCCG[2] rs545718319
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.70-5del rs11413698
NM_213569.2(NEBL):c.70-5dup rs11413698
NM_213569.2(NEBL):c.70-6_70-5dup rs11413698

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