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.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
NM_006393.3(NEBL):c.277A>G (p.Ile93Val)
|
rs762884881
|
0.00044
|
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.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.1837C>T (p.Arg613Ter)
|
rs146471913
|
0.00019
|
NM_006393.3(NEBL):c.369+5G>A
|
rs200249470
|
0.00019
|
NM_006393.3(NEBL):c.258+1G>A
|
rs139581346
|
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.214C>A (p.Pro72Thr)
|
rs150000482
|
0.00012
|
NM_006393.3(NEBL):c.523G>A (p.Ala175Thr)
|
rs71541562
|
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_006393.3(NEBL):c.1652C>T (p.Thr551Ile)
|
rs191012363
|
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.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.1715C>T (p.Ser572Phe)
|
rs778833975
|
0.00006
|
NM_006393.3(NEBL):c.1721T>C (p.Ile574Thr)
|
rs754884291
|
0.00006
|
NM_006393.3(NEBL):c.1870G>C (p.Val624Leu)
|
rs186851083
|
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.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.1117-3C>T
|
rs376080967
|
0.00005
|
NM_006393.3(NEBL):c.259-2A>T
|
rs904604682
|
0.00005
|
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys)
|
rs146198369
|
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.1667G>C (p.Ser556Thr)
|
rs373244101
|
0.00004
|
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe)
|
rs543765307
|
0.00004
|
NM_006393.3(NEBL):c.1834G>A (p.Glu612Lys)
|
rs778658096
|
0.00004
|
NM_006393.3(NEBL):c.1997C>T (p.Pro666Leu)
|
rs771905060
|
0.00004
|
NM_006393.3(NEBL):c.2006T>C (p.Met669Thr)
|
rs375197621
|
0.00004
|
NM_006393.3(NEBL):c.2012C>T (p.Pro671Leu)
|
rs770107953
|
0.00004
|
NM_006393.3(NEBL):c.2323del (p.Glu775fs)
|
rs776502857
|
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.2718C>A (p.Ser906Arg)
|
rs768402237
|
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.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.815A>G (p.Asp272Gly)
|
rs778861859
|
0.00004
|
NM_006393.3(NEBL):c.872A>G (p.His291Arg)
|
rs147853594
|
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.113G>T (p.Ser38Ile)
|
rs375265257
|
0.00003
|
NM_006393.3(NEBL):c.1639C>T (p.Arg547Ter)
|
rs149647815
|
0.00003
|
NM_006393.3(NEBL):c.2041G>A (p.Glu681Lys)
|
rs1060503679
|
0.00003
|
NM_006393.3(NEBL):c.2401G>A (p.Val801Met)
|
rs772136984
|
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.2841G>A (p.Met947Ile)
|
rs745574506
|
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.903+1G>T
|
rs775057540
|
0.00003
|
NM_006393.3(NEBL):c.904C>T (p.Arg302Ter)
|
rs149737043
|
0.00003
|
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.2026G>A (p.Val676Met)
|
rs149878829
|
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.2310G>A (p.Met770Ile)
|
rs200334335
|
0.00002
|
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter)
|
rs752922937
|
0.00002
|
NM_006393.3(NEBL):c.2485G>A (p.Val829Met)
|
rs727504979
|
0.00002
|
NM_006393.3(NEBL):c.2645G>A (p.Arg882Gln)
|
rs758877499
|
0.00002
|
NM_006393.3(NEBL):c.2868A>G (p.Leu956=)
|
rs779415582
|
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.1003A>C (p.Ser335Arg)
|
rs771769135
|
0.00001
|
NM_006393.3(NEBL):c.103G>A (p.Glu35Lys)
|
rs878854902
|
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.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.149G>A (p.Ser50Asn)
|
rs1207801626
|
0.00001
|
NM_006393.3(NEBL):c.153+5G>A
|
rs766864066
|
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.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.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.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+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.2507G>A (p.Gly836Glu)
|
rs768915725
|
0.00001
|
NM_006393.3(NEBL):c.2513T>C (p.Ile838Thr)
|
rs749452317
|
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.2611+6A>G
|
rs762305537
|
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.2704G>A (p.Glu902Lys)
|
rs761425280
|
0.00001
|
NM_006393.3(NEBL):c.2761G>C (p.Ala921Pro)
|
rs1057518516
|
0.00001
|
NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys)
|
rs1554769095
|
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.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.463A>G (p.Asn155Asp)
|
rs1344682606
|
0.00001
|
NM_006393.3(NEBL):c.503A>T (p.Gln168Leu)
|
rs730880171
|
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.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.857T>A (p.Leu286Ter)
|
rs752717041
|
0.00001
|
NM_006393.3(NEBL):c.901G>A (p.Gly301Ser)
|
rs773469997
|
0.00001
|
NM_006393.3(NEBL):c.903+2dup
|
rs1473850704
|
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
|
|
|
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.1004G>T (p.Ser335Ile)
|
rs1842654577
|
|
NM_006393.3(NEBL):c.1008+1G>C
|
|
|
NM_006393.3(NEBL):c.1008+5A>T
|
|
|
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.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.1123del (p.Tyr375fs)
|
|
|
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.1212C>T (p.Thr404=)
|
|
|
NM_006393.3(NEBL):c.1216C>T (p.Leu406Phe)
|
|
|
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.1228-3T>C
|
rs1588750815
|
|
NM_006393.3(NEBL):c.1228-4A>T
|
|
|
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.1259T>C (p.Ile420Thr)
|
rs1841346894
|
|
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.1300A>C (p.Ile434Leu)
|
|
|
NM_006393.3(NEBL):c.1307G>A (p.Arg436Lys)
|
|
|
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.1338+2377C>T
|
|
|
NM_006393.3(NEBL):c.1339-3C>G
|
|
|
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.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.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>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.1496T>G (p.Met499Arg)
|
rs727504620
|
|
NM_006393.3(NEBL):c.1508_1509del (p.Thr503fs)
|
|
|
NM_006393.3(NEBL):c.1510_1513del (p.Asp504fs)
|
rs745728544
|
|
NM_006393.3(NEBL):c.1517T>C (p.Leu506Pro)
|
|
|
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+1G>A
|
|
|
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+2T>C
|
|
|
NM_006393.3(NEBL):c.1563del (p.Lys521fs)
|
rs1840390408
|
|
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.1597G>A (p.Gly533Arg)
|
rs541364544
|
|
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.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.1670A>T (p.Gln557Leu)
|
|
|
NM_006393.3(NEBL):c.1671+4G>A
|
rs528164655
|
|
NM_006393.3(NEBL):c.1671+5G>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.1783T>G (p.Tyr595Asp)
|
rs2130874323
|
|
NM_006393.3(NEBL):c.1790A>C (p.Lys597Thr)
|
|
|
NM_006393.3(NEBL):c.1810G>A (p.Ala604Thr)
|
|
|
NM_006393.3(NEBL):c.1831A>G (p.Ile611Val)
|
|
|
NM_006393.3(NEBL):c.1837C>G (p.Arg613Gly)
|
|
|
NM_006393.3(NEBL):c.1859A>G (p.Asn620Ser)
|
|
|
NM_006393.3(NEBL):c.1869+5G>A
|
rs1346776842
|
|
NM_006393.3(NEBL):c.1869A>G (p.Ser623=)
|
|
|
NM_006393.3(NEBL):c.1870-1G>T
|
rs112010030
|
|
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.1961A>G (p.Asn654Ser)
|
|
|
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.1987A>C (p.Lys663Gln)
|
rs751064460
|
|
NM_006393.3(NEBL):c.1990G>T (p.Ala664Ser)
|
rs2130827997
|
|
NM_006393.3(NEBL):c.1994C>T (p.Thr665Ile)
|
|
|
NM_006393.3(NEBL):c.2015A>T (p.Glu672Val)
|
|
|
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.2149-2A>C
|
rs367588562
|
|
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.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.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+1G>A
|
|
|
NM_006393.3(NEBL):c.2242-1G>A
|
|
|
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.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.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.2344A>T (p.Met782Leu)
|
|
|
NM_006393.3(NEBL):c.2346+5G>A
|
|
|
NM_006393.3(NEBL):c.2347G>A (p.Val783Ile)
|
|
|
NM_006393.3(NEBL):c.2363A>G (p.Asp788Gly)
|
|
|
NM_006393.3(NEBL):c.2365T>A (p.Phe789Ile)
|
rs1564345984
|
|
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.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.2446G>A (p.Val816Ile)
|
rs2130787684
|
|
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.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.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.2515G>A (p.Val839Ile)
|
|
|
NM_006393.3(NEBL):c.2517T>G (p.Val839=)
|
|
|
NM_006393.3(NEBL):c.2519-1G>A
|
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|
NM_006393.3(NEBL):c.2519-1G>T
|
|
|
NM_006393.3(NEBL):c.2519-2A>G
|
|
|
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.2563G>T (p.Asp855Tyr)
|
|
|
NM_006393.3(NEBL):c.258+3A>G
|
|
|
NM_006393.3(NEBL):c.259-2A>G
|
|
|
NM_006393.3(NEBL):c.259-7C>G
|
rs201590910
|
|
NM_006393.3(NEBL):c.2591G>C (p.Arg864Thr)
|
|
|
NM_006393.3(NEBL):c.2599C>T (p.His867Tyr)
|
|
|
NM_006393.3(NEBL):c.259G>A (p.Ala87Thr)
|
rs368856187
|
|
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.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.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.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.2699T>A (p.Ile900Asn)
|
|
|
NM_006393.3(NEBL):c.2699_2700delinsAA (p.Ile900Lys)
|
|
|
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.275C>G (p.Thr92Ser)
|
|
|
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.2813A>G (p.Tyr938Cys)
|
rs1024719266
|
|
NM_006393.3(NEBL):c.2816T>A (p.Met939Lys)
|
|
|
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.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.2876A>G (p.Tyr959Cys)
|
|
|
NM_006393.3(NEBL):c.2890G>A (p.Asp964Asn)
|
|
|
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.2935G>A (p.Asp979Asn)
|
|
|
NM_006393.3(NEBL):c.2944G>A (p.Val982Ile)
|
|
|
NM_006393.3(NEBL):c.2947A>G (p.Asn983Asp)
|
rs1835360345
|
|
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.297T>G (p.Asn99Lys)
|
rs1363794425
|
|
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.3031G>A (p.Glu1011Lys)
|
rs375208825
|
|
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.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+1G>A
|
|
|
NM_006393.3(NEBL):c.369+4G>A
|
|
|
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.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.480T>G (p.Asn160Lys)
|
|
|
NM_006393.3(NEBL):c.481-14C>G
|
|
|
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.521G>C (p.Ser174Thr)
|
|
|
NM_006393.3(NEBL):c.53T>C (p.Ile18Thr)
|
|
|
NM_006393.3(NEBL):c.55G>C (p.Gly19Arg)
|
|
|
NM_006393.3(NEBL):c.574A>G (p.Ile192Val)
|
rs758465790
|
|
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.67_72del (p.Asn23_Glu24del)
|
rs778962398
|
|
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.718A>G (p.Lys240Glu)
|
|
|
NM_006393.3(NEBL):c.722A>T (p.Asp241Val)
|
|
|
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.801G>T (p.Val267=)
|
|
|
NM_006393.3(NEBL):c.814G>C (p.Asp272His)
|
|
|
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.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.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.905G>A (p.Arg302Gln)
|
|
|
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.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.250-10T>G
|
rs727503339
|
|
NM_213569.2(NEBL):c.31G>C (p.Val11Leu)
|
|
|
NM_213569.2(NEBL):c.65A>T (p.Asp22Val)
|
rs727503341
|
|