NM_006393.3(NEBL):c.2869-232C>G
|
rs2765844
|
0.98655
|
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.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.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.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.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.2242-302G>T
|
rs61146312
|
0.05724
|
NM_006393.3(NEBL):c.799-338T>G
|
rs45513591
|
0.05697
|
NM_006393.3(NEBL):c.1962+213T>C
|
rs75938474
|
0.05513
|
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.1227+79A>G
|
rs12260966
|
0.00977
|
NM_006393.3(NEBL):c.1008+68C>T
|
rs11012360
|
0.00975
|
NM_213569.2(NEBL):c.250-214A>G
|
rs116187316
|
0.00914
|
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.370-228A>G
|
rs71578981
|
0.00540
|
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.2242-316C>G
|
rs185746282
|
0.00507
|
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.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.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
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.2054C>T (p.Ala685Val)
|
rs146218038
|
0.00051
|
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.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.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.2775C>T (p.Pro925=)
|
rs199887353
|
0.00016
|
NM_006393.3(NEBL):c.1227+5G>A
|
rs370026081
|
0.00014
|
NM_006393.3(NEBL):c.240C>T (p.Ile80=)
|
rs727503337
|
0.00014
|
NM_006393.3(NEBL):c.214C>A (p.Pro72Thr)
|
rs150000482
|
0.00012
|
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.1540G>T (p.Ala514Ser)
|
rs781572930
|
0.00008
|
NM_006393.3(NEBL):c.1946A>G (p.Gln649Arg)
|
rs770416802
|
0.00008
|
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.1721T>C (p.Ile574Thr)
|
rs754884291
|
0.00006
|
NM_006393.3(NEBL):c.1998G>A (p.Pro666=)
|
rs761798662
|
0.00006
|
NM_006393.3(NEBL):c.326T>C (p.Ile109Thr)
|
rs371620771
|
0.00006
|
NM_006393.3(NEBL):c.1077A>G (p.Ser359=)
|
rs776764153
|
0.00005
|
NM_006393.3(NEBL):c.2406C>T (p.Asp802=)
|
rs748203517
|
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.1108C>A (p.Gln370Lys)
|
rs146198369
|
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.1997C>T (p.Pro666Leu)
|
rs771905060
|
0.00004
|
NM_006393.3(NEBL):c.2013G>A (p.Pro671=)
|
rs781677922
|
0.00004
|
NM_006393.3(NEBL):c.2347-9C>T
|
rs750957531
|
0.00004
|
NM_006393.3(NEBL):c.2612-27C>T
|
rs568587887
|
0.00004
|
NM_006393.3(NEBL):c.311G>A (p.Arg104Gln)
|
rs537661572
|
0.00004
|
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr)
|
rs142138590
|
0.00004
|
NM_006393.3(NEBL):c.872A>G (p.His291Arg)
|
rs147853594
|
0.00004
|
NM_006393.3(NEBL):c.1639C>T (p.Arg547Ter)
|
rs149647815
|
0.00003
|
NM_006393.3(NEBL):c.1776+10_1776+11insGCT
|
rs752802559
|
0.00003
|
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu)
|
rs200756166
|
0.00003
|
NM_006393.3(NEBL):c.2149-11T>C
|
rs369297283
|
0.00003
|
NM_006393.3(NEBL):c.2644C>T (p.Arg882Ter)
|
rs151012132
|
0.00003
|
NM_006393.3(NEBL):c.798+1G>A
|
rs746179839
|
0.00003
|
NM_006393.3(NEBL):c.16T>C (p.Phe6Leu)
|
rs777445403
|
0.00002
|
NM_006393.3(NEBL):c.1346A>G (p.Tyr449Cys)
|
rs535927510
|
0.00001
|
NM_006393.3(NEBL):c.154-10T>C
|
rs1057521303
|
0.00001
|
NM_006393.3(NEBL):c.1608G>T (p.Met536Ile)
|
rs794729078
|
0.00001
|
NM_006393.3(NEBL):c.1613T>A (p.Val538Glu)
|
rs534382445
|
0.00001
|
NM_006393.3(NEBL):c.1776G>A (p.Ala592=)
|
rs113406843
|
0.00001
|
NM_006393.3(NEBL):c.2547C>T (p.Gly849=)
|
rs180850975
|
0.00001
|
NM_006393.3(NEBL):c.2704G>A (p.Glu902Lys)
|
rs761425280
|
0.00001
|
NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys)
|
rs1554769095
|
0.00001
|
NM_006393.3(NEBL):c.676T>C (p.Ser226Pro)
|
rs768861339
|
0.00001
|
NM_006393.3(NEBL):c.738C>T (p.Tyr246=)
|
rs778455217
|
0.00001
|
NM_006393.3(NEBL):c.900C>T (p.Ser300=)
|
rs1476548617
|
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
|
|
|
NM_006393.3(NEBL):c.1008+33del
|
rs3831100
|
|
NM_006393.3(NEBL):c.1119A>G (p.Lys373=)
|
rs1381516485
|
|
NM_006393.3(NEBL):c.1156dup (p.Arg386fs)
|
rs1554784067
|
|
NM_006393.3(NEBL):c.1174G>A (p.Asp392Asn)
|
rs1588767821
|
|
NM_006393.3(NEBL):c.1365_1366del (p.Ile456fs)
|
rs1554781158
|
|
NM_006393.3(NEBL):c.1377G>T (p.Gly459=)
|
rs1310607610
|
|
NM_006393.3(NEBL):c.1475C>G (p.Thr492Ser)
|
rs1299663441
|
|
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln)
|
rs747238199
|
|
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.1672-133_1672-132insCC
|
rs35213426
|
|
NM_006393.3(NEBL):c.1672-149CT[10]
|
rs10631047
|
|
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.1790A>C (p.Lys597Thr)
|
|
|
NM_006393.3(NEBL):c.1827A>G (p.Pro609=)
|
rs1588701613
|
|
NM_006393.3(NEBL):c.1963-216CAA[7]
|
rs143964236
|
|
NM_006393.3(NEBL):c.2241+1G>A
|
|
|
NM_006393.3(NEBL):c.2271G>A (p.Met757Ile)
|
rs794729079
|
|
NM_006393.3(NEBL):c.2519-209G>T
|
rs80182205
|
|
NM_006393.3(NEBL):c.2519-2del
|
rs754453916
|
|
NM_006393.3(NEBL):c.259-21del
|
rs67288319
|
|
NM_006393.3(NEBL):c.2612-6A>G
|
rs377317796
|
|
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.294T>A (p.Ser98=)
|
rs771269408
|
|
NM_006393.3(NEBL):c.348dup (p.Val117fs)
|
rs1356025751
|
|
NM_006393.3(NEBL):c.370-264del
|
rs370456204
|
|
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.480+10C>A
|
rs377230358
|
|
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.658G>A (p.Val220Met)
|
rs571563897
|
|
NM_006393.3(NEBL):c.67_72del (p.Asn23_Glu24del)
|
rs778962398
|
|
NM_006393.3(NEBL):c.685-260G>C
|
rs703094
|
|
NM_006393.3(NEBL):c.685-305T>A
|
rs71541567
|
|
NM_006393.3(NEBL):c.904-274G>C
|
rs703090
|
|
NM_213569.2(NEBL):c.-138GC[1]
|
rs778464499
|
|
NM_213569.2(NEBL):c.-241GAGCCG[2]
|
rs545718319
|
|
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
|
|