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=)
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rs534621300
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NM_006393.3(NEBL):c.299C>A (p.Ser100Tyr)
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NM_006393.3(NEBL):c.3020C>A (p.Ala1007Glu)
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NM_006393.3(NEBL):c.3021G>A (p.Ala1007=)
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NM_006393.3(NEBL):c.3031G>A (p.Glu1011Lys)
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rs375208825
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NM_006393.3(NEBL):c.3036T>G (p.Phe1012Leu)
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NM_006393.3(NEBL):c.342A>G (p.Ala114=)
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NM_006393.3(NEBL):c.347A>C (p.Glu116Ala)
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NM_006393.3(NEBL):c.352A>T (p.Thr118Ser)
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NM_006393.3(NEBL):c.362A>G (p.Gln121Arg)
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NM_006393.3(NEBL):c.369+18T>C
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rs771142727
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NM_006393.3(NEBL):c.381G>A (p.Lys127=)
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NM_006393.3(NEBL):c.383A>T (p.Gln128Leu)
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rs139809958
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NM_006393.3(NEBL):c.424A>G (p.Met142Val)
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NM_006393.3(NEBL):c.441G>A (p.Glu147=)
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NM_006393.3(NEBL):c.441G>T (p.Glu147Asp)
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NM_006393.3(NEBL):c.470A>T (p.His157Leu)
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NM_006393.3(NEBL):c.471C>G (p.His157Gln)
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NM_006393.3(NEBL):c.476G>A (p.Ser159Asn)
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NM_006393.3(NEBL):c.480+10C>A
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rs377230358
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NM_006393.3(NEBL):c.480+15_480+16del
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rs1064794541
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NM_006393.3(NEBL):c.483T>G (p.Ile161Met)
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NM_006393.3(NEBL):c.498C>A (p.Asp166Glu)
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rs371105861
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NM_006393.3(NEBL):c.511C>T (p.His171Tyr)
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NM_006393.3(NEBL):c.519C>T (p.Tyr173=)
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NM_006393.3(NEBL):c.521G>C (p.Ser174Thr)
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NM_006393.3(NEBL):c.528A>G (p.Glu176=)
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NM_006393.3(NEBL):c.549G>A (p.Lys183=)
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NM_006393.3(NEBL):c.55G>C (p.Gly19Arg)
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NM_006393.3(NEBL):c.561G>A (p.Gln187=)
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NM_006393.3(NEBL):c.578G>A (p.Ser193Asn)
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NM_006393.3(NEBL):c.607A>T (p.Ile203Leu)
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NM_006393.3(NEBL):c.611T>C (p.Met204Thr)
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NM_006393.3(NEBL):c.614A>G (p.Asn205Ser)
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rs794729077
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NM_006393.3(NEBL):c.625G>T (p.Ala209Ser)
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rs142138590
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NM_006393.3(NEBL):c.631A>T (p.Ile211Phe)
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NM_006393.3(NEBL):c.640C>A (p.Pro214Thr)
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NM_006393.3(NEBL):c.647T>C (p.Phe216Ser)
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NM_006393.3(NEBL):c.652C>T (p.His218Tyr)
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NM_006393.3(NEBL):c.655G>A (p.Ala219Thr)
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NM_006393.3(NEBL):c.657C>T (p.Ala219=)
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NM_006393.3(NEBL):c.658G>A (p.Val220Met)
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rs571563897
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NM_006393.3(NEBL):c.658G>T (p.Val220Leu)
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rs571563897
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NM_006393.3(NEBL):c.675T>C (p.Leu225=)
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NM_006393.3(NEBL):c.718A>G (p.Lys240Glu)
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NM_006393.3(NEBL):c.729A>G (p.Lys243=)
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NM_006393.3(NEBL):c.729A>T (p.Lys243Asn)
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NM_006393.3(NEBL):c.801G>T (p.Val267=)
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NM_006393.3(NEBL):c.816C>T (p.Asp272=)
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NM_006393.3(NEBL):c.838G>A (p.Val280Ile)
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NM_006393.3(NEBL):c.846T>G (p.Asp282Glu)
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NM_006393.3(NEBL):c.84C>A (p.Val28=)
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NM_006393.3(NEBL):c.863T>A (p.Phe288Tyr)
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NM_006393.3(NEBL):c.905G>A (p.Arg302Gln)
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NM_006393.3(NEBL):c.918G>A (p.Lys306=)
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NM_006393.3(NEBL):c.959A>G (p.Asp320Gly)
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NM_006393.3(NEBL):c.966G>A (p.Val322=)
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NM_006393.3(NEBL):c.971A>G (p.His324Arg)
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NM_006393.3(NEBL):c.976C>A (p.His326Asn)
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NM_006393.3(NEBL):c.997C>T (p.Leu333Phe)
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NM_213569.2(NEBL):c.250-10T>G
|
rs727503339
|
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NM_213569.2(NEBL):c.31G>C (p.Val11Leu)
|
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NM_213569.2(NEBL):c.357+73449dup
|
rs57918610
|
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NM_213569.2(NEBL):c.357+73457del
|
rs57918610
|
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NM_213569.2(NEBL):c.65A>T (p.Asp22Val)
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rs727503341
|
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NM_213569.2(NEBL):c.70-5dup
|
rs11413698
|
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