NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg)
|
rs6710212
|
0.97529
|
NM_001164508.2(NEB):c.294+52T>G
|
rs4664499
|
0.85425
|
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His)
|
rs6711382
|
0.81103
|
NM_001164508.2(NEB):c.402+101A>G
|
rs4300824
|
0.78142
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69255
|
NM_001164508.2(NEB):c.771T>C (p.Ala257=)
|
rs4611637
|
0.68008
|
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)
|
rs2288210
|
0.66332
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
NM_001164508.2(NEB):c.24580-81A>G
|
rs4664455
|
0.65048
|
NM_001164508.2(NEB):c.24766-18C>T
|
rs2288195
|
0.64910
|
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)
|
rs7575451
|
0.64120
|
NM_001164508.2(NEB):c.20158-42G>A
|
rs2288201
|
0.63566
|
NM_001164508.2(NEB):c.1674+30T>G
|
rs6433569
|
0.62430
|
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=)
|
rs6709886
|
0.62301
|
NM_001164508.2(NEB):c.21840+82A>G
|
rs2288198
|
0.61992
|
NM_001164508.2(NEB):c.22162-108C>T
|
rs2288196
|
0.59579
|
NM_001164508.2(NEB):c.22800+32C>T
|
rs16830136
|
0.59551
|
NM_001164508.2(NEB):c.20368-57G>A
|
rs4664486
|
0.59006
|
NM_001164508.2(NEB):c.20998-44A>C
|
rs3732310
|
0.56531
|
NM_001164508.2(NEB):c.19731+103G>T
|
rs4575719
|
0.55813
|
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)
|
rs4664475
|
0.55659
|
NM_001164508.2(NEB):c.21522+78C>G
|
rs60806638
|
0.55600
|
NM_001164508.2(NEB):c.10452+71T>C
|
rs10186482
|
0.50955
|
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)
|
rs1061305
|
0.40617
|
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)
|
rs13013209
|
0.34676
|
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=)
|
rs774726264
|
0.33333
|
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)
|
rs6713162
|
0.31314
|
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)
|
rs10170273
|
0.30371
|
NM_001164508.2(NEB):c.6807+6T>G
|
rs10930723
|
0.29833
|
NM_001164508.2(NEB):c.1675-67C>T
|
rs10193188
|
0.29744
|
NM_001164508.2(NEB):c.5763+35T>C
|
rs12620077
|
0.29408
|
NM_001164508.2(NEB):c.8160+84G>A
|
rs4664494
|
0.29054
|
NM_001164508.2(NEB):c.19314+42C>T
|
rs2288206
|
0.27894
|
NM_001164508.2(NEB):c.18366+78T>C
|
rs7602715
|
0.27138
|
NM_001164508.2(NEB):c.5763+281G>A
|
rs12616767
|
0.26661
|
NM_001164508.2(NEB):c.16705-18C>T
|
rs61254943
|
0.26527
|
NM_001164508.2(NEB):c.16909-168C>T
|
rs3771901
|
0.26318
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_001164508.2(NEB):c.24393+60A>C
|
rs10497081
|
0.26227
|
NM_001164508.2(NEB):c.24874-47A>T
|
rs2288193
|
0.26026
|
NM_001164508.2(NEB):c.25405-34T>C
|
rs16830090
|
0.25362
|
NM_001164508.2(NEB):c.17535+90A>G
|
rs3732312
|
0.24731
|
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)
|
rs2288211
|
0.24726
|
NM_001164508.2(NEB):c.18156+222T>A
|
rs12052998
|
0.24703
|
NM_001164508.2(NEB):c.11077-19T>C
|
rs4303716
|
0.21438
|
NM_001164508.2(NEB):c.4611+70T>C
|
rs58903550
|
0.20373
|
NM_001164508.2(NEB):c.13628A>C (p.Lys4543Thr)
|
rs200125713
|
0.20353
|
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)
|
rs34577613
|
0.20341
|
NM_001164508.2(NEB):c.11289+99G>A
|
rs62174707
|
0.19979
|
NM_001164508.2(NEB):c.3901= (p.Tyr1301=)
|
rs6711382
|
0.18897
|
NM_001164508.2(NEB):c.5031+48A>G
|
rs4664496
|
0.18844
|
NM_001164508.2(NEB):c.8161-118A>T
|
rs35172004
|
0.18143
|
NM_001164508.2(NEB):c.3879+20G>T
|
rs12618063
|
0.17493
|
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)
|
rs33988153
|
0.17490
|
NM_001164508.2(NEB):c.7957-152C>T
|
rs28375835
|
0.12498
|
NM_001164508.2(NEB):c.12018+29G>A
|
rs11902616
|
0.11589
|
NM_001164508.2(NEB):c.11077-4G>T
|
rs878924060
|
0.11336
|
NM_001164508.2(NEB):c.2944-9G>A
|
rs13427102
|
0.10205
|
NM_001164508.2(NEB):c.6184-14T>A
|
rs10173335
|
0.09664
|
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=)
|
rs6717213
|
0.08304
|
NM_001164508.2(NEB):c.16450G>A (p.Ala5484Thr)
|
rs536508687
|
0.08083
|
NM_001164508.2(NEB):c.25150+12G>A
|
rs4414676
|
0.07283
|
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr)
|
rs886038435
|
0.07143
|
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)
|
rs75807392
|
0.04908
|
NM_001164508.2(NEB):c.20467-4T>A
|
rs199791504
|
0.04348
|
NM_001164508.2(NEB):c.20192A>T (p.Asp6731Val)
|
rs2288200
|
0.04316
|
NM_001164508.2(NEB):c.20598C>G (p.Gly6866=)
|
rs16830192
|
0.04050
|
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=)
|
rs13031275
|
0.03886
|
NM_001164508.2(NEB):c.16762T>A (p.Ser5588Thr)
|
rs35227368
|
0.03610
|
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=)
|
rs61730765
|
0.03096
|
NM_001164508.2(NEB):c.19102-6C>T
|
rs145127681
|
0.03008
|
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp)
|
rs34800215
|
0.02813
|
NM_001164508.2(NEB):c.21382T>C (p.Leu7128=)
|
rs114218081
|
0.02752
|
NM_001164508.2(NEB):c.19732-6C>T
|
rs11894996
|
0.02589
|
NM_001164508.2(NEB):c.612+8T>C
|
rs113095802
|
0.02379
|
NM_001164508.2(NEB):c.8466C>T (p.His2822=)
|
rs61730771
|
0.02236
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln)
|
rs35974308
|
0.01764
|
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu)
|
rs41270201
|
0.01730
|
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn)
|
rs35625617
|
0.01691
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)
|
rs35740585
|
0.01429
|
NM_001164508.2(NEB):c.11148G>C (p.Met3716Ile)
|
rs149025191
|
0.01369
|
NM_001164508.2(NEB):c.195G>A (p.Pro65=)
|
rs79524813
|
0.01367
|
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=)
|
rs61730772
|
0.01264
|
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)
|
rs34555492
|
0.01234
|
NM_001164508.2(NEB):c.3775-6T>C
|
rs80232472
|
0.01222
|
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=)
|
rs35808744
|
0.01201
|
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser)
|
rs16830236
|
0.01192
|
NM_001164508.2(NEB):c.8646C>T (p.Asp2882=)
|
rs61730773
|
0.01142
|
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile)
|
rs34368668
|
0.01129
|
NM_001164508.2(NEB):c.3147+5G>A
|
rs74859201
|
0.01118
|
NM_001164508.2(NEB):c.5772C>T (p.Tyr1924=)
|
rs77547727
|
0.01117
|
NM_001164508.2(NEB):c.6717T>G (p.Ile2239Met)
|
rs78733601
|
0.01102
|
NM_001164508.2(NEB):c.5763+4C>T
|
rs78916288
|
0.01075
|
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln)
|
rs141930814
|
0.01071
|
NM_001164508.2(NEB):c.8995-14T>C
|
rs79875240
|
0.00977
|
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=)
|
rs145252235
|
0.00972
|
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=)
|
rs16830170
|
0.00961
|
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)
|
rs62167164
|
0.00935
|
NM_001164508.2(NEB):c.8335A>G (p.Ile2779Val)
|
rs114853127
|
0.00920
|
NM_001164508.2(NEB):c.11769T>C (p.Ile3923=)
|
rs80320923
|
0.00914
|
NM_001164508.2(NEB):c.19311C>T (p.Ser6437=)
|
rs16830216
|
0.00914
|
NM_001164508.2(NEB):c.10338T>C (p.Asn3446=)
|
rs147569843
|
0.00870
|
NM_001164508.2(NEB):c.10344C>T (p.Asn3448=)
|
rs145052299
|
0.00870
|
NM_001164508.2(NEB):c.10347+6C>T
|
rs141088433
|
0.00870
|
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=)
|
rs140186806
|
0.00856
|
NM_001164508.2(NEB):c.*212T>C
|
rs1061317
|
0.00811
|
NM_001164508.2(NEB):c.24208-7C>T
|
rs113048349
|
0.00793
|
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)
|
rs35707762
|
0.00734
|
NM_001164508.2(NEB):c.2832C>T (p.Ser944=)
|
rs114076205
|
0.00714
|
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys)
|
rs187343008
|
0.00681
|
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile)
|
rs184262608
|
0.00672
|
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly)
|
rs76767949
|
0.00646
|
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His)
|
rs34532796
|
0.00550
|
NM_001164508.2(NEB):c.5802C>T (p.Gly1934=)
|
rs139963368
|
0.00547
|
NM_001164508.2(NEB):c.17304G>A (p.Leu5768=)
|
rs35273905
|
0.00526
|
NM_001164508.2(NEB):c.17049G>T (p.Ala5683=)
|
rs140688592
|
0.00517
|
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser)
|
rs75639119
|
0.00460
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=)
|
rs149639365
|
0.00441
|
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr)
|
rs12998234
|
0.00437
|
NM_001164508.2(NEB):c.24264G>A (p.Met8088Ile)
|
rs144709880
|
0.00436
|
NM_001164508.2(NEB):c.2640C>T (p.Arg880=)
|
rs114959904
|
0.00433
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
NM_001164508.2(NEB):c.1856A>G (p.Lys619Arg)
|
rs147305883
|
0.00426
|
NM_001164508.2(NEB):c.11077-20_11077-19insC
|
rs1553905611
|
0.00400
|
NM_001164508.2(NEB):c.1981C>T (p.Leu661=)
|
rs146460133
|
0.00395
|
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg)
|
rs73967567
|
0.00393
|
NM_001164508.2(NEB):c.6166A>G (p.Arg2056Gly)
|
rs115350357
|
0.00379
|
NM_001164508.2(NEB):c.1413C>T (p.Phe471=)
|
rs112958786
|
0.00363
|
NM_001164508.2(NEB):c.612+15C>T
|
rs112288851
|
0.00360
|
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)
|
rs115631125
|
0.00354
|
NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu)
|
rs3732309
|
0.00351
|
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala)
|
rs117271684
|
0.00348
|
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp)
|
rs117048449
|
0.00346
|
NM_001164508.2(NEB):c.1257+13A>T
|
rs75320668
|
0.00345
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu)
|
rs192402741
|
0.00334
|
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=)
|
rs144376972
|
0.00333
|
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr)
|
rs34234609
|
0.00327
|
NM_001164508.2(NEB):c.1675-9T>G
|
rs75118047
|
0.00324
|
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys)
|
rs146310692
|
0.00320
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_001164508.2(NEB):c.*201A>T
|
rs190132249
|
0.00311
|
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu)
|
rs35292878
|
0.00292
|
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=)
|
rs146294986
|
0.00286
|
NM_001164508.2(NEB):c.24056C>T (p.Pro8019Leu)
|
rs189655274
|
0.00280
|
NM_001164508.2(NEB):c.5032-15T>C
|
rs201180226
|
0.00277
|
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys)
|
rs202017360
|
0.00261
|
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile)
|
rs139798654
|
0.00257
|
NM_001164508.2(NEB):c.19944+3G>A
|
rs115142419
|
0.00250
|
NM_001164508.2(NEB):c.2523+20C>G
|
rs186473611
|
0.00245
|
NM_001164508.2(NEB):c.20682+13G>A
|
rs189918704
|
0.00244
|
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)
|
rs142074817
|
0.00242
|
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln)
|
rs201176993
|
0.00238
|
NM_001164508.2(NEB):c.18653G>A (p.Gly6218Asp)
|
rs34471889
|
0.00237
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_001164508.2(NEB):c.6615C>G (p.Arg2205=)
|
rs200018782
|
0.00226
|
NM_001164508.2(NEB):c.675G>A (p.Pro225=)
|
rs138528093
|
0.00225
|
NM_001164508.2(NEB):c.13369-13T>C
|
rs1289487534
|
0.00217
|
NM_001164508.2(NEB):c.3348C>T (p.Asn1116=)
|
rs149162847
|
0.00217
|
NM_001164508.2(NEB):c.13779A>G (p.Leu4593=)
|
rs1057522591
|
0.00209
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_001164508.2(NEB):c.20466+11A>G
|
rs181826071
|
0.00206
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
NM_001164508.2(NEB):c.22050+13C>T
|
rs113403461
|
0.00197
|
NM_001164508.2(NEB):c.10452+9A>G
|
rs117270796
|
0.00190
|
NM_001164508.2(NEB):c.11004G>A (p.Thr3668=)
|
rs117018177
|
0.00190
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_001164508.2(NEB):c.11076+12A>G
|
rs201250579
|
0.00186
|
NM_001164508.2(NEB):c.25542C>T (p.Thr8514=)
|
rs3821324
|
0.00183
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr)
|
rs149752325
|
0.00181
|
NM_001164508.2(NEB):c.18579+6T>C
|
rs116189169
|
0.00180
|
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp)
|
rs139636644
|
0.00178
|
NM_001164508.2(NEB):c.22800+9A>G
|
rs144303545
|
0.00177
|
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)
|
rs143602832
|
0.00177
|
NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln)
|
rs118191309
|
0.00171
|
NM_001164508.2(NEB):c.5718C>T (p.Ala1906=)
|
rs115379999
|
0.00169
|
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp)
|
rs74482326
|
0.00166
|
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)
|
rs34718443
|
0.00165
|
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys)
|
rs201169452
|
0.00165
|
NM_001164508.2(NEB):c.3639C>T (p.Val1213=)
|
rs74320183
|
0.00164
|
NM_001164508.2(NEB):c.18464A>C (p.Tyr6155Ser)
|
rs201971223
|
0.00162
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu)
|
rs143473183
|
0.00158
|
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=)
|
rs187211085
|
0.00156
|
NM_001164508.2(NEB):c.8072G>A (p.Arg2691His)
|
rs35555631
|
0.00156
|
NM_001164508.2(NEB):c.16449C>T (p.Ser5483=)
|
rs546992311
|
0.00148
|
NM_001164508.2(NEB):c.19836+10C>G
|
rs148814261
|
0.00148
|
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)
|
rs36105240
|
0.00148
|
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His)
|
rs576918934
|
0.00147
|
NM_001164508.2(NEB):c.2318A>G (p.Tyr773Cys)
|
rs77151072
|
0.00146
|
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)
|
rs185574478
|
0.00145
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_001164508.2(NEB):c.19665T>C (p.Ile6555=)
|
rs150842230
|
0.00138
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00137
|
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=)
|
rs143456239
|
0.00136
|
NM_001164508.2(NEB):c.1206C>T (p.Cys402=)
|
rs199695976
|
0.00134
|
NM_001164508.2(NEB):c.24874-8C>T
|
rs200902944
|
0.00134
|
NM_001164508.2(NEB):c.2637+17A>G
|
rs145112154
|
0.00133
|
NM_001164508.2(NEB):c.1035+16C>A
|
rs141976907
|
0.00131
|
NM_001164508.2(NEB):c.4463T>C (p.Met1488Thr)
|
rs201545521
|
0.00131
|
NM_001164508.2(NEB):c.16788C>T (p.Asn5596=)
|
rs186902443
|
0.00128
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_001164508.2(NEB):c.9072G>A (p.Ala3024=)
|
rs369897667
|
0.00125
|
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)
|
rs201825451
|
0.00123
|
NM_001164508.2(NEB):c.12640-4A>G
|
rs549888246
|
0.00122
|
NM_001164508.2(NEB):c.12C>T (p.Asp4=)
|
rs117178114
|
0.00119
|
NM_001164508.2(NEB):c.17601G>A (p.Val5867=)
|
rs58263509
|
0.00118
|
NM_001164508.2(NEB):c.8202C>T (p.Val2734=)
|
rs144595998
|
0.00117
|
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=)
|
rs6709752
|
0.00116
|
NM_001164508.2(NEB):c.469A>G (p.Ile157Val)
|
rs188718613
|
0.00115
|
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg)
|
rs201962649
|
0.00114
|
NM_001164508.2(NEB):c.177G>A (p.Gln59=)
|
rs200990309
|
0.00112
|
NM_001164508.2(NEB):c.*57C>T
|
rs566096042
|
0.00111
|
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr)
|
rs142540692
|
0.00111
|
NM_001164508.2(NEB):c.2283C>T (p.Ala761=)
|
rs373946448
|
0.00109
|
NM_001164508.2(NEB):c.10269G>A (p.Pro3423=)
|
rs368719373
|
0.00108
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
NM_001164508.2(NEB):c.2604G>T (p.Leu868=)
|
rs201698008
|
0.00108
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
NM_001164508.2(NEB):c.13078C>G (p.Leu4360Val)
|
rs761799512
|
0.00107
|
NM_001164508.2(NEB):c.21673A>T (p.Thr7225Ser)
|
rs187977960
|
0.00107
|
NM_001164508.2(NEB):c.6808-11T>C
|
rs199804593
|
0.00106
|
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)
|
rs201707021
|
0.00106
|
NM_001164508.2(NEB):c.8373+13G>A
|
rs199564399
|
0.00105
|
NM_001164508.2(NEB):c.21840+13A>C
|
rs75515097
|
0.00104
|
NM_001164508.2(NEB):c.18262-13C>T
|
rs374553944
|
0.00102
|
NM_001164508.2(NEB):c.8553G>A (p.Gly2851=)
|
rs200624735
|
0.00101
|
NM_001164508.2(NEB):c.8643C>T (p.Ser2881=)
|
rs150135749
|
0.00100
|
NM_001164508.2(NEB):c.3801T>C (p.Asp1267=)
|
rs182725059
|
0.00096
|
NM_001164508.2(NEB):c.9315C>A (p.Val3105=)
|
rs371174518
|
0.00096
|
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)
|
rs115986826
|
0.00095
|
NM_001164508.2(NEB):c.3987+11A>T
|
rs116903097
|
0.00092
|
NM_001164508.2(NEB):c.1897-16A>G
|
rs186001008
|
0.00091
|
NM_001164508.2(NEB):c.9354A>G (p.Thr3118=)
|
rs187637065
|
0.00089
|
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=)
|
rs375543045
|
0.00088
|
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro)
|
rs143123053
|
0.00083
|
NM_001164508.2(NEB):c.18783G>A (p.Gln6261=)
|
rs148095660
|
0.00081
|
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn)
|
rs192098032
|
0.00081
|
NM_001164508.2(NEB):c.17887G>A (p.Val5963Ile)
|
rs138217960
|
0.00079
|
NM_001164508.2(NEB):c.19219G>A (p.Glu6407Lys)
|
rs144539316
|
0.00078
|
NM_001164508.2(NEB):c.1258-7C>G
|
rs371265681
|
0.00077
|
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr)
|
rs200112795
|
0.00077
|
NM_001164508.2(NEB):c.25161G>A (p.Gln8387=)
|
rs376897146
|
0.00076
|
NM_001164508.2(NEB):c.25289T>C (p.Val8430Ala)
|
rs151338614
|
0.00075
|
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)
|
rs200425929
|
0.00075
|
NM_001164508.2(NEB):c.5763+15C>T
|
rs148455519
|
0.00073
|
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)
|
rs201400523
|
0.00072
|
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu)
|
rs192117840
|
0.00071
|
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys)
|
rs189553632
|
0.00071
|
NM_001164508.2(NEB):c.4720-18C>T
|
rs79402065
|
0.00071
|
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile)
|
rs199890298
|
0.00069
|
NM_001164508.2(NEB):c.2416-6G>T
|
rs185433570
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)
|
rs201886728
|
0.00066
|
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg)
|
rs138217855
|
0.00066
|
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp)
|
rs77994592
|
0.00065
|
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)
|
rs200963111
|
0.00064
|
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe)
|
rs200251444
|
0.00063
|
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg)
|
rs34504204
|
0.00061
|
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe)
|
rs182866658
|
0.00061
|
NM_001164508.2(NEB):c.23241+16C>T
|
rs75221580
|
0.00061
|
NM_001164508.2(NEB):c.23451+14A>C
|
rs190098609
|
0.00061
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001164508.2(NEB):c.2524-15G>T
|
rs151206071
|
0.00059
|
NM_001164508.2(NEB):c.20367+16G>C
|
rs145636096
|
0.00058
|
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=)
|
rs186244044
|
0.00058
|
NM_001164508.2(NEB):c.8499G>A (p.Lys2833=)
|
rs183998406
|
0.00058
|
NM_001164508.2(NEB):c.19284C>T (p.His6428=)
|
rs201005449
|
0.00056
|
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)
|
rs150874422
|
0.00055
|
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)
|
rs202209668
|
0.00054
|
NM_001164508.2(NEB):c.984C>T (p.Thr328=)
|
rs199969138
|
0.00052
|
NM_001164508.2(NEB):c.3468C>T (p.Val1156=)
|
rs373258662
|
0.00051
|
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)
|
rs184516994
|
0.00050
|
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr)
|
rs199847072
|
0.00049
|
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys)
|
rs200239095
|
0.00049
|
NM_001164508.2(NEB):c.19315-10T>C
|
rs201473873
|
0.00048
|
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=)
|
rs368625295
|
0.00048
|
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln)
|
rs373587647
|
0.00048
|
NM_001164508.2(NEB):c.20263-18G>A
|
rs377143618
|
0.00047
|
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr)
|
rs113174390
|
0.00047
|
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln)
|
rs369153778
|
0.00046
|
NM_001164508.2(NEB):c.12905A>T (p.Asn4302Ile)
|
rs886038429
|
0.00046
|
NM_001164508.2(NEB):c.1974T>C (p.Asp658=)
|
rs199528953
|
0.00046
|
NM_001164508.2(NEB):c.11067C>T (p.Asn3689=)
|
rs200427401
|
0.00044
|
NM_001164508.2(NEB):c.18891+17G>A
|
rs376129412
|
0.00044
|
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His)
|
rs765789028
|
0.00044
|
NM_001164508.2(NEB):c.23557-3C>G
|
rs374499643
|
0.00044
|
NM_001164508.2(NEB):c.2589C>T (p.Asp863=)
|
rs370176216
|
0.00043
|
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn)
|
rs200729207
|
0.00043
|
NM_001164508.2(NEB):c.2107-8C>T
|
rs369441230
|
0.00042
|
NM_001164508.2(NEB):c.5031+4T>C
|
rs370999716
|
0.00041
|
NM_001164508.2(NEB):c.6435C>T (p.Ile2145=)
|
rs375014703
|
0.00040
|
NM_001164508.2(NEB):c.9820G>A (p.Val3274Ile)
|
rs201288341
|
0.00040
|
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp)
|
rs199694315
|
0.00039
|
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)
|
rs200307392
|
0.00039
|
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His)
|
rs772352938
|
0.00038
|
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys)
|
rs201419564
|
0.00038
|
NM_001164508.2(NEB):c.4299+7A>G
|
rs373926259
|
0.00038
|
NM_001164508.2(NEB):c.18897G>T (p.Val6299=)
|
rs568599013
|
0.00037
|
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile)
|
rs189609282
|
0.00037
|
NM_001164508.2(NEB):c.11911-17T>C
|
rs144836165
|
0.00036
|
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val)
|
rs532986882
|
0.00036
|
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His)
|
rs368915047
|
0.00035
|
NM_001164508.2(NEB):c.20466+7G>A
|
rs201684605
|
0.00035
|
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)
|
rs373946758
|
0.00035
|
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)
|
rs142454476
|
0.00035
|
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)
|
rs201714437
|
0.00035
|
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His)
|
rs147159176
|
0.00034
|
NM_001164508.2(NEB):c.5712T>C (p.Pro1904=)
|
rs35946547
|
0.00034
|
NM_001164508.2(NEB):c.6183+17C>T
|
rs371738434
|
0.00034
|
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu)
|
rs185496567
|
0.00034
|
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile)
|
rs368637389
|
0.00033
|
NM_001164508.2(NEB):c.18742C>T (p.Pro6248Ser)
|
rs189541265
|
0.00032
|
NM_001164508.2(NEB):c.6278T>C (p.Val2093Ala)
|
rs147476634
|
0.00032
|
NM_001164508.2(NEB):c.22548G>C (p.Gln7516His)
|
rs200776925
|
0.00031
|
NM_001164508.2(NEB):c.6704A>C (p.His2235Pro)
|
rs372800812
|
0.00031
|
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)
|
rs199700878
|
0.00031
|
NM_001164508.2(NEB):c.12597G>A (p.Pro4199=)
|
rs763783436
|
0.00030
|
NM_001164508.2(NEB):c.20946A>G (p.Lys6982=)
|
rs371201870
|
0.00030
|
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=)
|
rs1462106212
|
0.00029
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514
|
0.00029
|
NM_001164508.2(NEB):c.21522T>C (p.Asp7174=)
|
rs185169373
|
0.00029
|
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=)
|
rs201688876
|
0.00029
|
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)
|
rs370873040
|
0.00029
|
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile)
|
rs202234374
|
0.00029
|
NM_001164508.2(NEB):c.20853C>T (p.Ile6951=)
|
rs199730497
|
0.00028
|
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn)
|
rs200945025
|
0.00028
|
NM_001164508.2(NEB):c.24487-12G>T
|
rs534797175
|
0.00028
|
NM_001164508.2(NEB):c.9126C>T (p.Cys3042=)
|
rs373453206
|
0.00028
|
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=)
|
rs372540293
|
0.00027
|
NM_001164508.2(NEB):c.78+18G>C
|
rs375533560
|
0.00027
|
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly)
|
rs183354017
|
0.00027
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
NM_001164508.2(NEB):c.1257+14C>T
|
rs377047616
|
0.00026
|
NM_001164508.2(NEB):c.12966C>T (p.Asp4322=)
|
rs1334385911
|
0.00026
|
NM_001164508.2(NEB):c.2049C>G (p.Gly683=)
|
rs372609682
|
0.00026
|
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp)
|
rs202145313
|
0.00026
|
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly)
|
rs375894183
|
0.00026
|
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu)
|
rs149471462
|
0.00026
|
NM_001164508.2(NEB):c.17838G>A (p.Gln5946=)
|
rs376199241
|
0.00025
|
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu)
|
rs370206339
|
0.00025
|
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly)
|
rs200056050
|
0.00025
|
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala)
|
rs200304547
|
0.00024
|
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu)
|
rs202191938
|
0.00024
|
NM_001164508.2(NEB):c.25141A>C (p.Met8381Leu)
|
rs147872436
|
0.00024
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00024
|
NM_001164508.2(NEB):c.7228-20C>T
|
rs185977475
|
0.00024
|
NM_001164507.2(NEB):c.21387G>C (p.Leu7129=)
|
rs200792421
|
0.00023
|
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser)
|
rs77826191
|
0.00023
|
NM_001164508.2(NEB):c.2343G>A (p.Lys781=)
|
rs191610670
|
0.00023
|
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=)
|
rs35016946
|
0.00023
|
NM_001164508.2(NEB):c.5520C>T (p.Asp1840=)
|
rs555782688
|
0.00023
|
NM_001164508.2(NEB):c.17845-5G>A
|
rs373390654
|
0.00022
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val)
|
rs200637566
|
0.00022
|
NM_001164508.2(NEB):c.4398A>G (p.Ala1466=)
|
rs368136951
|
0.00022
|
NM_001164508.2(NEB):c.492G>A (p.Ser164=)
|
rs371015050
|
0.00022
|
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn)
|
rs147168910
|
0.00022
|
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile)
|
rs189232206
|
0.00021
|
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr)
|
rs191722579
|
0.00021
|
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)
|
rs202050860
|
0.00021
|
NM_001164508.2(NEB):c.23242-15G>A
|
rs370467068
|
0.00021
|
NM_001164508.2(NEB):c.9178A>G (p.Met3060Val)
|
rs538524863
|
0.00021
|
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=)
|
rs144673752
|
0.00020
|
NM_001164508.2(NEB):c.1569C>T (p.Asp523=)
|
rs200758495
|
0.00020
|
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu)
|
rs368912483
|
0.00020
|
NM_001164508.2(NEB):c.21371G>A (p.Arg7124His)
|
rs201094791
|
0.00020
|
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)
|
rs368302286
|
0.00020
|
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met)
|
rs201462794
|
0.00019
|
NM_001164508.2(NEB):c.19295A>G (p.Gln6432Arg)
|
rs189912759
|
0.00019
|
NM_001164508.2(NEB):c.19326G>C (p.Arg6442=)
|
rs779349365
|
0.00019
|
NM_001164508.2(NEB):c.19482C>T (p.Pro6494=)
|
rs200333206
|
0.00019
|
NM_001164508.2(NEB):c.25359A>C (p.Gln8453His)
|
rs377748897
|
0.00019
|
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser)
|
rs199903114
|
0.00019
|
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=)
|
rs148794372
|
0.00019
|
NM_001164508.2(NEB):c.5225T>G (p.Leu1742Arg)
|
rs202113159
|
0.00019
|
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met)
|
rs377375638
|
0.00019
|
NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp)
|
rs371490023
|
0.00019
|
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys)
|
rs201596787
|
0.00018
|
NM_001164508.2(NEB):c.17061C>G (p.Val5687=)
|
rs199756204
|
0.00018
|
NM_001164508.2(NEB):c.19550G>A (p.Arg6517His)
|
rs149596493
|
0.00018
|
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys)
|
rs115623365
|
0.00018
|
NM_001164508.2(NEB):c.21491G>A (p.Arg7164His)
|
rs16830171
|
0.00018
|
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu)
|
rs199957886
|
0.00018
|
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)
|
rs199937246
|
0.00018
|
NM_001164508.2(NEB):c.2638-19G>C
|
rs750188445
|
0.00018
|
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser)
|
rs376611641
|
0.00018
|
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro)
|
rs183667452
|
0.00018
|
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser)
|
rs543100735
|
0.00018
|
NM_001164508.2(NEB):c.144C>T (p.Ser48=)
|
rs373652428
|
0.00017
|
NM_001164508.2(NEB):c.20355C>T (p.Asp6785=)
|
rs140323673
|
0.00017
|
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys)
|
rs770023115
|
0.00017
|
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys)
|
rs200555425
|
0.00017
|
NM_001164508.2(NEB):c.6291A>G (p.Gln2097=)
|
rs753864118
|
0.00017
|
NM_001164508.2(NEB):c.6486A>G (p.Ile2162Met)
|
rs370994522
|
0.00017
|
NM_001164508.2(NEB):c.6807+10T>C
|
rs375723456
|
0.00017
|
NM_001164508.2(NEB):c.7778T>C (p.Phe2593Ser)
|
rs370615288
|
0.00017
|
NM_001164508.2(NEB):c.19745C>T (p.Ala6582Val)
|
rs375646776
|
0.00016
|
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys)
|
rs765806782
|
0.00016
|
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=)
|
rs368887173
|
0.00016
|
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)
|
rs367626762
|
0.00016
|
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)
|
rs200269437
|
0.00016
|
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp)
|
rs200165006
|
0.00016
|
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=)
|
rs375569766
|
0.00016
|
NM_001164508.2(NEB):c.3879+8G>A
|
rs376511134
|
0.00016
|
NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val)
|
rs373790988
|
0.00016
|
NM_001164508.2(NEB):c.7227+13T>G
|
rs373818296
|
0.00016
|
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)
|
rs375164626
|
0.00016
|
NM_001164508.2(NEB):c.8071C>T (p.Arg2691Cys)
|
rs202044707
|
0.00016
|
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=)
|
rs368217121
|
0.00016
|
NM_001164508.2(NEB):c.9867C>T (p.Gly3289=)
|
rs150283068
|
0.00016
|
NM_001164508.2(NEB):c.10347+18A>G
|
rs200915591
|
0.00015
|
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)
|
rs199584268
|
0.00015
|
NM_001164508.2(NEB):c.13539G>A (p.Lys4513=)
|
rs1418203010
|
0.00015
|
NM_001164508.2(NEB):c.20941G>A (p.Val6981Met)
|
rs374961597
|
0.00015
|
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile)
|
rs200523155
|
0.00015
|
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu)
|
rs376609115
|
0.00015
|
NM_001164508.2(NEB):c.4305G>A (p.Val1435=)
|
rs111241479
|
0.00015
|
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln)
|
rs568814745
|
0.00014
|
NM_001164508.2(NEB):c.11076+14C>T
|
rs374866390
|
0.00014
|
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val)
|
rs369957704
|
0.00014
|
NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser)
|
rs376194864
|
0.00014
|
NM_001164508.2(NEB):c.11971G>A (p.Ala3991Thr)
|
rs368328716
|
0.00014
|
NM_001164508.2(NEB):c.1281A>G (p.Leu427=)
|
rs752890513
|
0.00014
|
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg)
|
rs368150737
|
0.00014
|
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu)
|
rs202211102
|
0.00014
|
NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met)
|
rs370810654
|
0.00014
|
NM_001164508.2(NEB):c.19378G>A (p.Asp6460Asn)
|
rs562175196
|
0.00014
|
NM_001164508.2(NEB):c.21861G>A (p.Arg7287=)
|
rs372808358
|
0.00014
|
NM_001164508.2(NEB):c.2212-4C>G
|
rs781315546
|
0.00014
|
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu)
|
rs201976154
|
0.00014
|
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)
|
rs35194393
|
0.00014
|
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)
|
rs200719359
|
0.00014
|
NM_001164508.2(NEB):c.60C>T (p.Tyr20=)
|
rs768163455
|
0.00014
|
NM_001164508.2(NEB):c.6916-4T>G
|
rs745912237
|
0.00014
|
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)
|
rs576076237
|
0.00014
|
NM_001164508.2(NEB):c.10377C>T (p.Asp3459=)
|
rs373823362
|
0.00013
|
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg)
|
rs371568550
|
0.00013
|
NM_001164508.2(NEB):c.1119G>A (p.Arg373=)
|
rs200914626
|
0.00013
|
NM_001164508.2(NEB):c.12639+16A>G
|
rs752536032
|
0.00013
|
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)
|
rs199710125
|
0.00013
|
NM_001164508.2(NEB):c.16713C>T (p.Tyr5571=)
|
rs202142644
|
0.00013
|
NM_001164508.2(NEB):c.17898G>A (p.Pro5966=)
|
rs376655029
|
0.00013
|
NM_001164508.2(NEB):c.23742+11T>C
|
rs374368246
|
0.00013
|
NM_001164508.2(NEB):c.2639G>A (p.Arg880His)
|
rs202026890
|
0.00013
|
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys)
|
rs199907781
|
0.00013
|
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu)
|
rs373133009
|
0.00013
|
NM_001164508.2(NEB):c.6491G>A (p.Ser2164Asn)
|
rs780626863
|
0.00013
|
NM_001164508.2(NEB):c.7644+18G>C
|
rs772614356
|
0.00013
|
NM_001164508.2(NEB):c.8799T>C (p.Tyr2933=)
|
rs375997049
|
0.00013
|
NM_001164508.2(NEB):c.9195C>T (p.His3065=)
|
rs374734631
|
0.00013
|
NM_001164508.2(NEB):c.10348C>T (p.Arg3450Cys)
|
rs200462308
|
0.00012
|
NM_001164508.2(NEB):c.10609G>A (p.Ala3537Thr)
|
rs556492694
|
0.00012
|
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val)
|
rs149384863
|
0.00012
|
NM_001164508.2(NEB):c.12316G>A (p.Asp4106Asn)
|
rs192843524
|
0.00012
|
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr)
|
rs375294508
|
0.00012
|
NM_001164508.2(NEB):c.18342G>A (p.Lys6114=)
|
rs565998554
|
0.00012
|
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg)
|
rs199594449
|
0.00012
|
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro)
|
rs184723737
|
0.00012
|
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln)
|
rs372804439
|
0.00012
|
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu)
|
rs886038447
|
0.00012
|
NM_001164508.2(NEB):c.24108T>C (p.Phe8036=)
|
rs748169663
|
0.00012
|
NM_001164508.2(NEB):c.25055C>T (p.Thr8352Ile)
|
rs372762302
|
0.00012
|
NM_001164508.2(NEB):c.2823G>A (p.Ala941=)
|
rs376849181
|
0.00012
|
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu)
|
rs201473194
|
0.00012
|
NM_001164508.2(NEB):c.5249C>T (p.Thr1750Ile)
|
rs571713476
|
0.00012
|
NM_001164508.2(NEB):c.6624G>A (p.Pro2208=)
|
rs373278622
|
0.00012
|
NM_001164508.2(NEB):c.780A>G (p.Pro260=)
|
rs80255720
|
0.00012
|
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=)
|
rs377015178
|
0.00012
|
NM_001164508.2(NEB):c.8115C>T (p.Ser2705=)
|
rs755894828
|
0.00012
|
NM_001164508.2(NEB):c.853A>G (p.Ile285Val)
|
rs773114380
|
0.00012
|
NM_001164508.2(NEB):c.8890C>T (p.Arg2964Cys)
|
rs368965372
|
0.00012
|
NM_001164508.2(NEB):c.11077-62A>G
|
rs951123465
|
0.00011
|
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile)
|
rs200585609
|
0.00011
|
NM_001164508.2(NEB):c.12247C>T (p.Arg4083Cys)
|
rs368383341
|
0.00011
|
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu)
|
rs373829936
|
0.00011
|
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn)
|
rs1057522021
|
0.00011
|
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp)
|
rs546869744
|
0.00011
|
NM_001164508.2(NEB):c.17518G>A (p.Ala5840Thr)
|
rs376277385
|
0.00011
|
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val)
|
rs201529683
|
0.00011
|
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His)
|
rs200195063
|
0.00011
|
NM_001164508.2(NEB):c.19429-20A>G
|
rs372241831
|
0.00011
|
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn)
|
rs144168709
|
0.00011
|
NM_001164508.2(NEB):c.19944+14A>T
|
rs147106649
|
0.00011
|
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys)
|
rs527250558
|
0.00011
|
NM_001164508.2(NEB):c.20212G>A (p.Asp6738Asn)
|
rs201337732
|
0.00011
|
NM_001164508.2(NEB):c.21056G>A (p.Arg7019His)
|
rs377443184
|
0.00011
|
NM_001164508.2(NEB):c.21579C>T (p.His7193=)
|
rs372877088
|
0.00011
|
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu)
|
rs202137113
|
0.00011
|
NM_001164508.2(NEB):c.23928+14G>A
|
rs538314913
|
0.00011
|
NM_001164508.2(NEB):c.24207+17G>C
|
rs373742185
|
0.00011
|
NM_001164508.2(NEB):c.24615C>T (p.Pro8205=)
|
rs371270146
|
0.00011
|
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val)
|
rs551649582
|
0.00011
|
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)
|
rs373551215
|
0.00011
|
NM_001164508.2(NEB):c.2773A>G (p.Ser925Gly)
|
rs928041091
|
0.00011
|
NM_001164508.2(NEB):c.5554A>G (p.Met1852Val)
|
rs370172690
|
0.00011
|
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr)
|
rs369215974
|
0.00011
|
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)
|
rs201758329
|
0.00011
|
NM_001164508.2(NEB):c.6807+5A>G
|
rs746481799
|
0.00011
|
NM_001164508.2(NEB):c.6885A>G (p.Leu2295=)
|
rs369426786
|
0.00011
|
NM_001164508.2(NEB):c.8647G>A (p.Val2883Ile)
|
rs369283016
|
0.00011
|
NM_001164508.2(NEB):c.9620G>A (p.Arg3207His)
|
rs111841612
|
0.00011
|
NM_001164508.2(NEB):c.9854G>A (p.Arg3285His)
|
rs376932516
|
0.00011
|
NM_001164508.2(NEB):c.10141G>A (p.Asp3381Asn)
|
rs374760449
|
0.00010
|
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr)
|
rs376182104
|
0.00010
|
NM_001164508.2(NEB):c.1182A>C (p.Thr394=)
|
rs186233985
|
0.00010
|
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys)
|
rs374390581
|
0.00010
|
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)
|
rs773239926
|
0.00010
|
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro)
|
rs768813228
|
0.00010
|
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)
|
rs374606967
|
0.00010
|
NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln)
|
rs556624010
|
0.00010
|
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg)
|
rs190605644
|
0.00010
|
NM_001164508.2(NEB):c.20158-5C>T
|
rs376869270
|
0.00010
|
NM_001164508.2(NEB):c.21525C>T (p.Ile7175=)
|
rs369183371
|
0.00010
|
NM_001164508.2(NEB):c.23055G>A (p.Gly7685=)
|
rs563896790
|
0.00010
|
NM_001164508.2(NEB):c.24873G>A (p.Thr8291=)
|
rs779321695
|
0.00010
|
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile)
|
rs117861109
|
0.00010
|
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val)
|
rs372217127
|
0.00010
|
NM_001164508.2(NEB):c.2630A>G (p.Gln877Arg)
|
rs373892420
|
0.00010
|
NM_001164508.2(NEB):c.4032G>T (p.Val1344=)
|
rs373748794
|
0.00010
|
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile)
|
rs199662534
|
0.00010
|
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=)
|
rs765208384
|
0.00010
|
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr)
|
rs751494785
|
0.00010
|
NM_001164508.2(NEB):c.5967C>T (p.Asn1989=)
|
rs371151246
|
0.00010
|
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=)
|
rs540542570
|
0.00010
|
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His)
|
rs373589529
|
0.00010
|
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=)
|
rs755883171
|
0.00010
|
NM_001164508.2(NEB):c.9271G>A (p.Asp3091Asn)
|
rs764110936
|
0.00010
|
NM_001164508.2(NEB):c.9578A>G (p.Glu3193Gly)
|
rs369985728
|
0.00010
|
NM_001164508.2(NEB):c.10026G>C (p.Lys3342Asn)
|
rs117636679
|
0.00009
|
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys)
|
rs539139958
|
0.00009
|
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156
|
0.00009
|
NM_001164508.2(NEB):c.1152+5G>A
|
rs111404077
|
0.00009
|
NM_001164508.2(NEB):c.11540C>A (p.Thr3847Asn)
|
rs766876980
|
0.00009
|
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=)
|
rs369429046
|
0.00009
|
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=)
|
rs367638234
|
0.00009
|
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly)
|
rs1475846023
|
0.00009
|
NM_001164508.2(NEB):c.13638C>T (p.Ile4546=)
|
rs1225197770
|
0.00009
|
NM_001164508.2(NEB):c.17215G>A (p.Asp5739Asn)
|
rs200672818
|
0.00009
|
NM_001164508.2(NEB):c.17581G>A (p.Asp5861Asn)
|
rs375837416
|
0.00009
|
NM_001164508.2(NEB):c.17844+7C>T
|
rs373259828
|
0.00009
|
NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile)
|
rs370695020
|
0.00009
|
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln)
|
rs575958060
|
0.00009
|
NM_001164508.2(NEB):c.18870C>T (p.Asn6290=)
|
rs200122580
|
0.00009
|
NM_001164508.2(NEB):c.18939C>T (p.Tyr6313=)
|
rs201622661
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001164508.2(NEB):c.19803G>A (p.Val6601=)
|
rs374957115
|
0.00009
|
NM_001164508.2(NEB):c.20211C>T (p.Pro6737=)
|
rs771038288
|
0.00009
|
NM_001164508.2(NEB):c.2064A>G (p.Pro688=)
|
rs764952901
|
0.00009
|
NM_001164508.2(NEB):c.20893-11T>C
|
rs201173663
|
0.00009
|
NM_001164508.2(NEB):c.21027G>A (p.Gln7009=)
|
rs758282270
|
0.00009
|
NM_001164508.2(NEB):c.21418-17T>C
|
rs374003090
|
0.00009
|
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys)
|
rs745791097
|
0.00009
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
NM_001164508.2(NEB):c.23017-3T>C
|
rs111314898
|
0.00009
|
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)
|
rs201028196
|
0.00009
|
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser)
|
rs369602540
|
0.00009
|
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys)
|
rs372117694
|
0.00009
|
NM_001164508.2(NEB):c.23835+13A>G
|
rs368353531
|
0.00009
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
NM_001164508.2(NEB):c.24570C>T (p.Asn8190=)
|
rs201566336
|
0.00009
|
NM_001164508.2(NEB):c.24623T>G (p.Phe8208Cys)
|
rs376664167
|
0.00009
|
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His)
|
rs139333406
|
0.00009
|
NM_001164508.2(NEB):c.25405-7C>T
|
rs372113031
|
0.00009
|
NM_001164508.2(NEB):c.4607G>A (p.Ser1536Asn)
|
rs182143534
|
0.00009
|
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu)
|
rs78420579
|
0.00009
|
NM_001164508.2(NEB):c.7914C>T (p.Ser2638=)
|
rs373353657
|
0.00009
|
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys)
|
rs771598053
|
0.00009
|
NM_001164508.2(NEB):c.9345C>T (p.His3115=)
|
rs367739638
|
0.00009
|
NM_001164508.2(NEB):c.9832-7A>T
|
rs778183317
|
0.00009
|
NM_001164508.2(NEB):c.9878G>C (p.Gly3293Ala)
|
rs199890164
|
0.00009
|
NM_001164507.2(NEB):c.21396C>T (p.Thr7132=)
|
rs759637718
|
0.00008
|
NM_001164508.2(NEB):c.10196T>C (p.Ile3399Thr)
|
rs377734027
|
0.00008
|
NM_001164508.2(NEB):c.11277T>C (p.Asp3759=)
|
rs775887711
|
0.00008
|
NM_001164508.2(NEB):c.11911-20G>A
|
rs749556721
|
0.00008
|
NM_001164508.2(NEB):c.12511G>A (p.Ala4171Thr)
|
rs1420479305
|
0.00008
|
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr)
|
rs577939684
|
0.00008
|
NM_001164508.2(NEB):c.13059+14C>T
|
rs1456707041
|
0.00008
|
NM_001164508.2(NEB):c.16625A>G (p.His5542Arg)
|
rs773955783
|
0.00008
|
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr)
|
rs202111641
|
0.00008
|
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val)
|
rs541672313
|
0.00008
|
NM_001164508.2(NEB):c.17737-19T>C
|
rs367755687
|
0.00008
|
NM_001164508.2(NEB):c.19788T>C (p.Asp6596=)
|
rs974199168
|
0.00008
|
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser)
|
rs751724804
|
0.00008
|
NM_001164508.2(NEB):c.20565A>G (p.Thr6855=)
|
rs377243130
|
0.00008
|
NM_001164508.2(NEB):c.22341G>C (p.Lys7447Asn)
|
rs544200886
|
0.00008
|
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp)
|
rs200559481
|
0.00008
|
NM_001164508.2(NEB):c.24186C>A (p.His8062Gln)
|
rs557951728
|
0.00008
|
NM_001164508.2(NEB):c.3042+11A>G
|
rs758960950
|
0.00008
|
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met)
|
rs181244403
|
0.00008
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00008
|
NM_001164508.2(NEB):c.3918G>A (p.Lys1306=)
|
rs368682145
|
0.00008
|
NM_001164508.2(NEB):c.4431T>C (p.Asp1477=)
|
rs140558263
|
0.00008
|
NM_001164508.2(NEB):c.5724C>T (p.Ser1908=)
|
rs370965998
|
0.00008
|
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln)
|
rs201746137
|
0.00008
|
NM_001164508.2(NEB):c.8356A>G (p.Arg2786Gly)
|
rs201747395
|
0.00008
|
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn)
|
rs375811851
|
0.00008
|
NM_001164508.2(NEB):c.9619-9C>T
|
rs778009768
|
0.00008
|
NM_001164508.2(NEB):c.10005G>A (p.Met3335Ile)
|
rs375830667
|
0.00007
|
NM_001164508.2(NEB):c.10144-15G>A
|
rs375731546
|
0.00007
|
NM_001164508.2(NEB):c.105G>A (p.Thr35=)
|
rs368075131
|
0.00007
|
NM_001164508.2(NEB):c.10960G>A (p.Gly3654Arg)
|
rs754341838
|
0.00007
|
NM_001164508.2(NEB):c.11034G>A (p.Pro3678=)
|
rs528974814
|
0.00007
|
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val)
|
rs199551865
|
0.00007
|
NM_001164508.2(NEB):c.1362T>C (p.Ser454=)
|
rs747277167
|
0.00007
|
NM_001164508.2(NEB):c.16779A>G (p.Arg5593=)
|
rs369688367
|
0.00007
|
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys)
|
rs372049328
|
0.00007
|
NM_001164508.2(NEB):c.16875C>T (p.Val5625=)
|
rs757882235
|
0.00007
|
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys)
|
rs547231033
|
0.00007
|
NM_001164508.2(NEB):c.19732-8C>T
|
rs137934821
|
0.00007
|
NM_001164508.2(NEB):c.20019C>T (p.His6673=)
|
rs374881368
|
0.00007
|
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys)
|
rs772854423
|
0.00007
|
NM_001164508.2(NEB):c.20454G>C (p.Leu6818=)
|
rs374662309
|
0.00007
|
NM_001164508.2(NEB):c.21321T>C (p.Tyr7107=)
|
rs372326115
|
0.00007
|
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met)
|
rs767584361
|
0.00007
|
NM_001164508.2(NEB):c.22050+14G>A
|
rs542106802
|
0.00007
|
NM_001164508.2(NEB):c.22273-10C>T
|
rs781520817
|
0.00007
|
NM_001164508.2(NEB):c.23127+4G>A
|
rs764457781
|
0.00007
|
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr)
|
rs536677256
|
0.00007
|
NM_001164508.2(NEB):c.2475C>T (p.Asp825=)
|
rs180881237
|
0.00007
|
NM_001164508.2(NEB):c.368G>A (p.Arg123His)
|
rs546250852
|
0.00007
|
NM_001164508.2(NEB):c.3936C>T (p.Gly1312=)
|
rs753005851
|
0.00007
|
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr)
|
rs776231831
|
0.00007
|
NM_001164508.2(NEB):c.5160C>T (p.Pro1720=)
|
rs377168964
|
0.00007
|
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu)
|
rs200468391
|
0.00007
|
NM_001164508.2(NEB):c.5616G>A (p.Pro1872=)
|
rs368371414
|
0.00007
|
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys)
|
rs956309067
|
0.00007
|
NM_001164508.2(NEB):c.6184-19A>G
|
rs762124925
|
0.00007
|
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His)
|
rs373778424
|
0.00007
|
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr)
|
rs776759120
|
0.00007
|
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)
|
rs372284984
|
0.00006
|
NM_001164508.2(NEB):c.-114+3A>G
|
rs772077208
|
0.00006
|
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=)
|
rs727504033
|
0.00006
|
NM_001164508.2(NEB):c.10299C>G (p.Asp3433Glu)
|
rs180847025
|
0.00006
|
NM_001164508.2(NEB):c.10386A>G (p.Gln3462=)
|
rs749927128
|
0.00006
|
NM_001164508.2(NEB):c.10419G>A (p.Met3473Ile)
|
rs368842783
|
0.00006
|
NM_001164508.2(NEB):c.10821C>T (p.Pro3607=)
|
rs375814899
|
0.00006
|
NM_001164508.2(NEB):c.11199T>C (p.Ala3733=)
|
rs756871030
|
0.00006
|
NM_001164508.2(NEB):c.11221G>A (p.Gly3741Ser)
|
rs375657086
|
0.00006
|
NM_001164508.2(NEB):c.1152C>T (p.Asp384=)
|
rs767328072
|
0.00006
|
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)
|
rs556930902
|
0.00006
|
NM_001164508.2(NEB):c.11850C>T (p.His3950=)
|
rs777244382
|
0.00006
|
NM_001164508.2(NEB):c.12027C>T (p.Tyr4009=)
|
rs745881254
|
0.00006
|
NM_001164508.2(NEB):c.12074G>T (p.Ser4025Ile)
|
rs767858255
|
0.00006
|
NM_001164508.2(NEB):c.16983C>T (p.Leu5661=)
|
rs377481097
|
0.00006
|
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=)
|
rs769476760
|
0.00006
|
NM_001164508.2(NEB):c.17519C>T (p.Ala5840Val)
|
rs539856643
|
0.00006
|
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=)
|
rs377183242
|
0.00006
|
NM_001164508.2(NEB):c.18156+17T>G
|
rs200662106
|
0.00006
|
NM_001164508.2(NEB):c.18166A>G (p.Arg6056Gly)
|
rs779413062
|
0.00006
|
NM_001164508.2(NEB):c.18322C>T (p.Pro6108Ser)
|
rs750393216
|
0.00006
|
NM_001164508.2(NEB):c.18694-7A>T
|
rs373371474
|
0.00006
|
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser)
|
rs550191566
|
0.00006
|
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg)
|
rs757621444
|
0.00006
|
NM_001164508.2(NEB):c.19477G>A (p.Val6493Met)
|
rs1233717326
|
0.00006
|
NM_001164508.2(NEB):c.19535T>C (p.Ile6512Thr)
|
rs751483486
|
0.00006
|
NM_001164508.2(NEB):c.19557C>T (p.His6519=)
|
rs371785128
|
0.00006
|
NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn)
|
rs201731351
|
0.00006
|
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=)
|
rs201515651
|
0.00006
|
NM_001164508.2(NEB):c.19749C>T (p.His6583=)
|
rs768711941
|
0.00006
|
NM_001164508.2(NEB):c.20127C>T (p.His6709=)
|
rs368328496
|
0.00006
|
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile)
|
rs775553284
|
0.00006
|
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His)
|
rs755370356
|
0.00006
|
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His)
|
rs773584363
|
0.00006
|
NM_001164508.2(NEB):c.21215A>G (p.Tyr7072Cys)
|
rs763554121
|
0.00006
|
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val)
|
rs750039342
|
0.00006
|
NM_001164508.2(NEB):c.22037A>T (p.Asn7346Ile)
|
rs140982447
|
0.00006
|
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala)
|
rs754959175
|
0.00006
|
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg)
|
rs201548700
|
0.00006
|
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln)
|
rs766072117
|
0.00006
|
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr)
|
rs374941096
|
0.00006
|
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His)
|
rs372699411
|
0.00006
|
NM_001164508.2(NEB):c.23083C>A (p.Pro7695Thr)
|
rs757006805
|
0.00006
|
NM_001164508.2(NEB):c.2354A>G (p.His785Arg)
|
rs370296542
|
0.00006
|
NM_001164508.2(NEB):c.23742+2T>C
|
rs545937015
|
0.00006
|
NM_001164508.2(NEB):c.23967A>G (p.Leu7989=)
|
rs769117795
|
0.00006
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
NM_001164508.2(NEB):c.2415T>C (p.Asp805=)
|
rs566989836
|
0.00006
|
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile)
|
rs758996758
|
0.00006
|
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=)
|
rs754365974
|
0.00006
|
NM_001164508.2(NEB):c.2515A>G (p.Thr839Ala)
|
rs779630318
|
0.00006
|
NM_001164508.2(NEB):c.25260G>A (p.Ser8420=)
|
rs1390774664
|
0.00006
|
NM_001164508.2(NEB):c.25297+15C>T
|
rs10199238
|
0.00006
|
NM_001164508.2(NEB):c.25368G>A (p.Thr8456=)
|
rs200083849
|
0.00006
|
NM_001164508.2(NEB):c.3255+1G>A
|
rs375628303
|
0.00006
|
NM_001164508.2(NEB):c.3520G>A (p.Ala1174Thr)
|
rs756135837
|
0.00006
|
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His)
|
rs201984572
|
0.00006
|
NM_001164508.2(NEB):c.4251C>T (p.Asp1417=)
|
rs550832252
|
0.00006
|
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr)
|
rs554984749
|
0.00006
|
NM_001164508.2(NEB):c.507+9A>G
|
rs372645309
|
0.00006
|
NM_001164508.2(NEB):c.5247C>T (p.Tyr1749=)
|
rs777520288
|
0.00006
|
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu)
|
rs370000978
|
0.00006
|
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=)
|
rs150496369
|
0.00006
|
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr)
|
rs369275207
|
0.00006
|
NM_001164508.2(NEB):c.5551A>G (p.Lys1851Glu)
|
rs746409256
|
0.00006
|
NM_001164508.2(NEB):c.5925G>A (p.Ser1975=)
|
rs1206630690
|
0.00006
|
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)
|
rs375412223
|
0.00006
|
NM_001164508.2(NEB):c.6076-9T>C
|
rs765399302
|
0.00006
|
NM_001164508.2(NEB):c.6119A>G (p.Tyr2040Cys)
|
rs756926807
|
0.00006
|
NM_001164508.2(NEB):c.6368C>T (p.Thr2123Met)
|
rs371109129
|
0.00006
|
NM_001164508.2(NEB):c.738C>T (p.Leu246=)
|
rs368500993
|
0.00006
|
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)
|
rs149430473
|
0.00006
|
NM_001164508.2(NEB):c.7459G>A (p.Asp2487Asn)
|
rs764278567
|
0.00006
|
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp)
|
rs368232288
|
0.00006
|
NM_001164508.2(NEB):c.7737T>C (p.His2579=)
|
rs528614990
|
0.00006
|
NM_001164508.2(NEB):c.78+6G>A
|
rs376085885
|
0.00006
|
NM_001164508.2(NEB):c.7875G>A (p.Lys2625=)
|
rs577894144
|
0.00006
|
NM_001164508.2(NEB):c.7931G>A (p.Arg2644Gln)
|
rs557950249
|
0.00006
|
NM_001164508.2(NEB):c.7953C>T (p.Ser2651=)
|
rs183764569
|
0.00006
|
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)
|
rs201119402
|
0.00006
|
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr)
|
rs370738668
|
0.00006
|
NM_001164508.2(NEB):c.9360G>A (p.Leu3120=)
|
rs749865900
|
0.00006
|
NM_001164508.2(NEB):c.9369G>A (p.Gln3123=)
|
rs763454860
|
0.00006
|
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=)
|
rs751747575
|
0.00006
|
NM_001164508.2(NEB):c.9529C>T (p.Arg3177Cys)
|
rs758363933
|
0.00006
|
NM_001164508.2(NEB):c.9883C>T (p.Arg3295Trp)
|
rs750990726
|
0.00006
|
NM_001164508.2(NEB):c.10075G>A (p.Glu3359Lys)
|
rs374359052
|
0.00005
|
NM_001164508.2(NEB):c.10140C>T (p.Ser3380=)
|
rs199870629
|
0.00005
|
NM_001164508.2(NEB):c.10463G>A (p.Arg3488His)
|
rs371605774
|
0.00005
|
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu)
|
rs573693040
|
0.00005
|
NM_001164508.2(NEB):c.10653C>T (p.His3551=)
|
rs369508429
|
0.00005
|
NM_001164508.2(NEB):c.10675C>T (p.Arg3559Cys)
|
rs751938843
|
0.00005
|
NM_001164508.2(NEB):c.10988G>A (p.Arg3663His)
|
rs550715282
|
0.00005
|
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=)
|
rs199789085
|
0.00005
|
NM_001164508.2(NEB):c.11182-8T>A
|
rs183088493
|
0.00005
|
NM_001164508.2(NEB):c.11341C>T (p.Arg3781Trp)
|
rs533027587
|
0.00005
|
NM_001164508.2(NEB):c.11612A>G (p.Lys3871Arg)
|
rs761955993
|
0.00005
|
NM_001164508.2(NEB):c.11712G>A (p.Lys3904=)
|
rs767231395
|
0.00005
|
NM_001164508.2(NEB):c.12596C>T (p.Pro4199Leu)
|
rs1365594299
|
0.00005
|
NM_001164508.2(NEB):c.12769C>T (p.Arg4257Cys)
|
rs1376744526
|
0.00005
|
NM_001164508.2(NEB):c.1296A>T (p.Gly432=)
|
rs751665091
|
0.00005
|
NM_001164508.2(NEB):c.13044C>T (p.Tyr4348=)
|
rs1167279039
|
0.00005
|
NM_001164508.2(NEB):c.13059+4C>T
|
rs1253831275
|
0.00005
|
NM_001164508.2(NEB):c.1675-4C>G
|
rs369915027
|
0.00005
|
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His)
|
rs373850451
|
0.00005
|
NM_001164508.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle)
|
rs765184893
|
0.00005
|
NM_001164508.2(NEB):c.17832C>T (p.Asp5944=)
|
rs544453966
|
0.00005
|
NM_001164508.2(NEB):c.17900C>T (p.Thr5967Met)
|
rs778982089
|
0.00005
|
NM_001164508.2(NEB):c.18381A>G (p.Glu6127=)
|
rs1055886459
|
0.00005
|
NM_001164508.2(NEB):c.18694-3T>C
|
rs370200484
|
0.00005
|
NM_001164508.2(NEB):c.19315-4A>G
|
rs778306769
|
0.00005
|
NM_001164508.2(NEB):c.19899C>T (p.Thr6633=)
|
rs370742146
|
0.00005
|
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala)
|
rs371704528
|
0.00005
|
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln)
|
rs777069125
|
0.00005
|
NM_001164508.2(NEB):c.22428C>T (p.Leu7476=)
|
rs371431256
|
0.00005
|
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met)
|
rs757505325
|
0.00005
|
NM_001164508.2(NEB):c.23346+13G>A
|
rs564325749
|
0.00005
|
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met)
|
rs370108917
|
0.00005
|
NM_001164508.2(NEB):c.23555C>T (p.Ser7852Leu)
|
rs200454939
|
0.00005
|
NM_001164508.2(NEB):c.23742+9C>T
|
rs762973833
|
0.00005
|
NM_001164508.2(NEB):c.24044G>A (p.Gly8015Glu)
|
rs772083580
|
0.00005
|
NM_001164508.2(NEB):c.24820T>C (p.Leu8274=)
|
rs372203426
|
0.00005
|
NM_001164508.2(NEB):c.252C>T (p.Pro84=)
|
rs201735545
|
0.00005
|
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr)
|
rs753428817
|
0.00005
|
NM_001164508.2(NEB):c.2687C>T (p.Pro896Leu)
|
rs746502484
|
0.00005
|
NM_001164508.2(NEB):c.2739C>T (p.Ser913=)
|
rs185674525
|
0.00005
|
NM_001164508.2(NEB):c.2819A>G (p.Tyr940Cys)
|
rs369875205
|
0.00005
|
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile)
|
rs201541240
|
0.00005
|
NM_001164508.2(NEB):c.4481A>G (p.Gln1494Arg)
|
rs769642582
|
0.00005
|
NM_001164508.2(NEB):c.4612G>C (p.Ala1538Pro)
|
rs781263453
|
0.00005
|
NM_001164508.2(NEB):c.4748C>T (p.Ala1583Val)
|
rs761956085
|
0.00005
|
NM_001164508.2(NEB):c.5031+7A>T
|
rs767637405
|
0.00005
|
NM_001164508.2(NEB):c.5032-9A>G
|
rs1274542788
|
0.00005
|
NM_001164508.2(NEB):c.6488A>G (p.Gln2163Arg)
|
rs200813844
|
0.00005
|
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His)
|
rs752349680
|
0.00005
|
NM_001164508.2(NEB):c.7185C>T (p.Asn2395=)
|
rs775336786
|
0.00005
|
NM_001164508.2(NEB):c.7246C>G (p.Leu2416Val)
|
rs747337656
|
0.00005
|
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn)
|
rs781745506
|
0.00005
|
NM_001164508.2(NEB):c.8625A>G (p.Thr2875=)
|
rs200386897
|
0.00005
|
NM_001164508.2(NEB):c.863A>G (p.Lys288Arg)
|
rs202035863
|
0.00005
|
NM_001164508.2(NEB):c.9388C>T (p.Arg3130Trp)
|
rs779778326
|
0.00005
|
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=)
|
rs747458739
|
0.00005
|
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151
|
0.00004
|
NM_001164507.2(NEB):c.21345A>G (p.Lys7115=)
|
rs754506178
|
0.00004
|
NM_001164508.2(NEB):c.10074C>T (p.His3358=)
|
rs896373241
|
0.00004
|
NM_001164508.2(NEB):c.10083G>A (p.Thr3361=)
|
rs778762176
|
0.00004
|
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=)
|
rs768708852
|
0.00004
|
NM_001164508.2(NEB):c.10146C>G (p.Asn3382Lys)
|
rs374471394
|
0.00004
|
NM_001164508.2(NEB):c.1015G>A (p.Ala339Thr)
|
rs762993577
|
0.00004
|
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu)
|
rs753198978
|
0.00004
|
NM_001164508.2(NEB):c.10827G>A (p.Gln3609=)
|
rs775200475
|
0.00004
|
NM_001164508.2(NEB):c.10986C>T (p.Tyr3662=)
|
rs373365702
|
0.00004
|
NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met)
|
rs775362248
|
0.00004
|
NM_001164508.2(NEB):c.11082A>G (p.Leu3694=)
|
rs774349707
|
0.00004
|
NM_001164508.2(NEB):c.11697C>A (p.Ile3899=)
|
rs755871388
|
0.00004
|
NM_001164508.2(NEB):c.11763G>A (p.Pro3921=)
|
rs554366790
|
0.00004
|
NM_001164508.2(NEB):c.11851G>A (p.Val3951Met)
|
rs759624618
|
0.00004
|
NM_001164508.2(NEB):c.12018+20C>T
|
rs951202856
|
0.00004
|
NM_001164508.2(NEB):c.12062T>C (p.Ile4021Thr)
|
rs370068571
|
0.00004
|
NM_001164508.2(NEB):c.12537A>G (p.Lys4179=)
|
rs753569565
|
0.00004
|
NM_001164508.2(NEB):c.12594T>G (p.Thr4198=)
|
rs1253550964
|
0.00004
|
NM_001164508.2(NEB):c.12790A>G (p.Met4264Val)
|
rs1363996930
|
0.00004
|
NM_001164508.2(NEB):c.13047C>T (p.Asp4349=)
|
rs886038431
|
0.00004
|
NM_001164508.2(NEB):c.13179A>C (p.Ile4393=)
|
rs1314887624
|
0.00004
|
NM_001164508.2(NEB):c.1350A>G (p.Thr450=)
|
rs774227589
|
0.00004
|
NM_001164508.2(NEB):c.1386C>T (p.Tyr462=)
|
rs376911383
|
0.00004
|
NM_001164508.2(NEB):c.1602G>C (p.Lys534Asn)
|
rs777148695
|
0.00004
|
NM_001164508.2(NEB):c.16790C>G (p.Ala5597Gly)
|
rs777969701
|
0.00004
|
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val)
|
rs761829162
|
0.00004
|
NM_001164508.2(NEB):c.17113A>G (p.Ser5705Gly)
|
rs777639198
|
0.00004
|
NM_001164508.2(NEB):c.17160C>T (p.Tyr5720=)
|
rs768508081
|
0.00004
|
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val)
|
rs756098317
|
0.00004
|
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=)
|
rs555516831
|
0.00004
|
NM_001164508.2(NEB):c.17496C>T (p.Ser5832=)
|
rs746291431
|
0.00004
|
NM_001164508.2(NEB):c.1779C>T (p.Ser593=)
|
rs1212529440
|
0.00004
|
NM_001164508.2(NEB):c.17814T>C (p.His5938=)
|
rs776069270
|
0.00004
|
NM_001164508.2(NEB):c.17845-6C>T
|
rs376370460
|
0.00004
|
NM_001164508.2(NEB):c.1800C>T (p.Asp600=)
|
rs532710372
|
0.00004
|
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn)
|
rs377076154
|
0.00004
|
NM_001164508.2(NEB):c.18471+20A>G
|
rs202133044
|
0.00004
|
NM_001164508.2(NEB):c.18489G>A (p.Ala6163=)
|
rs371669095
|
0.00004
|
NM_001164508.2(NEB):c.18839T>C (p.Leu6280Pro)
|
rs372271428
|
0.00004
|
NM_001164508.2(NEB):c.18885G>A (p.Leu6295=)
|
rs141925015
|
0.00004
|
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=)
|
rs771969348
|
0.00004
|
NM_001164508.2(NEB):c.1914C>T (p.Asn638=)
|
rs901423026
|
0.00004
|
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys)
|
rs368240939
|
0.00004
|
NM_001164508.2(NEB):c.19386G>A (p.Pro6462=)
|
rs199835469
|
0.00004
|
NM_001164508.2(NEB):c.19430G>A (p.Arg6477His)
|
rs762108795
|
0.00004
|
NM_001164508.2(NEB):c.19476C>T (p.Ile6492=)
|
rs113068669
|
0.00004
|
NM_001164508.2(NEB):c.1953G>A (p.Glu651=)
|
rs367997645
|
0.00004
|
NM_001164508.2(NEB):c.19626+14_19626+15del
|
rs537345128
|
0.00004
|
NM_001164508.2(NEB):c.19722A>G (p.Leu6574=)
|
rs141526973
|
0.00004
|
NM_001164508.2(NEB):c.19737G>A (p.Lys6579=)
|
rs770882814
|
0.00004
|
NM_001164508.2(NEB):c.1998+9A>G
|
rs772240494
|
0.00004
|
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser)
|
rs755153044
|
0.00004
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)
|
rs781250495
|
0.00004
|
NM_001164508.2(NEB):c.20158-4G>T
|
rs568113302
|
0.00004
|
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys)
|
rs776334631
|
0.00004
|
NM_001164508.2(NEB):c.20346T>C (p.Tyr6782=)
|
rs767355230
|
0.00004
|
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro)
|
rs767873861
|
0.00004
|
NM_001164508.2(NEB):c.20577+6G>A
|
rs775513148
|
0.00004
|
NM_001164508.2(NEB):c.20577+8C>T
|
rs762136090
|
0.00004
|
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu)
|
rs376157878
|
0.00004
|
NM_001164508.2(NEB):c.20940G>A (p.Thr6980=)
|
rs369611234
|
0.00004
|
NM_001164508.2(NEB):c.20945A>T (p.Lys6982Ile)
|
rs776012642
|
0.00004
|
NM_001164508.2(NEB):c.20998-13T>C
|
rs375312685
|
0.00004
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
NM_001164508.2(NEB):c.21736-16C>T
|
rs746834957
|
0.00004
|
NM_001164508.2(NEB):c.21841-19T>C
|
rs763501109
|
0.00004
|
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly)
|
rs747282707
|
0.00004
|
NM_001164508.2(NEB):c.21875G>A (p.Gly7292Asp)
|
rs780278859
|
0.00004
|
NM_001164508.2(NEB):c.21892A>T (p.Thr7298Ser)
|
rs531618541
|
0.00004
|
NM_001164508.2(NEB):c.218G>A (p.Arg73Gln)
|
rs727504037
|
0.00004
|
NM_001164508.2(NEB):c.21993C>T (p.Ala7331=)
|
rs371611266
|
0.00004
|
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile)
|
rs1396168176
|
0.00004
|
NM_001164508.2(NEB):c.22264C>A (p.Gln7422Lys)
|
rs369642754
|
0.00004
|
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile)
|
rs575499014
|
0.00004
|
NM_001164508.2(NEB):c.22500C>T (p.Phe7500=)
|
rs772294501
|
0.00004
|
NM_001164508.2(NEB):c.2250G>A (p.Thr750=)
|
rs753965951
|
0.00004
|
NM_001164508.2(NEB):c.22591-6A>G
|
rs758209784
|
0.00004
|
NM_001164508.2(NEB):c.22890G>A (p.Gln7630=)
|
rs765598242
|
0.00004
|
NM_001164508.2(NEB):c.23199G>A (p.Pro7733=)
|
rs775027154
|
0.00004
|
NM_001164508.2(NEB):c.23346+5G>A
|
rs778663301
|
0.00004
|
NM_001164508.2(NEB):c.23347-13A>G
|
rs376065596
|
0.00004
|
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=)
|
rs770713773
|
0.00004
|
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His)
|
rs369514998
|
0.00004
|
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys)
|
rs758166991
|
0.00004
|
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn)
|
rs760905651
|
0.00004
|
NM_001164508.2(NEB):c.23854T>C (p.Leu7952=)
|
rs763873161
|
0.00004
|
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=)
|
rs558657964
|
0.00004
|
NM_001164508.2(NEB):c.24240C>T (p.Thr8080=)
|
rs935211033
|
0.00004
|
NM_001164508.2(NEB):c.24480T>A (p.Ile8160=)
|
rs746456810
|
0.00004
|
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu)
|
rs541908352
|
0.00004
|
NM_001164508.2(NEB):c.24574A>G (p.Ser8192Gly)
|
rs141240053
|
0.00004
|
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)
|
rs201291446
|
0.00004
|
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu)
|
rs746031384
|
0.00004
|
NM_001164508.2(NEB):c.24765+8C>T
|
rs374935839
|
0.00004
|
NM_001164508.2(NEB):c.24842G>A (p.Arg8281Gln)
|
rs770024830
|
0.00004
|
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile)
|
rs377336846
|
0.00004
|
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His)
|
rs778972474
|
0.00004
|
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His)
|
rs796797375
|
0.00004
|
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln)
|
rs369174368
|
0.00004
|
NM_001164508.2(NEB):c.25239A>G (p.Glu8413=)
|
rs576696191
|
0.00004
|
NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr)
|
rs563173814
|
0.00004
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His)
|
rs368346105
|
0.00004
|
NM_001164508.2(NEB):c.25449T>C (p.Asp8483=)
|
rs1425045342
|
0.00004
|
NM_001164508.2(NEB):c.255C>T (p.Tyr85=)
|
rs375749306
|
0.00004
|
NM_001164508.2(NEB):c.2657A>C (p.Tyr886Ser)
|
rs371105660
|
0.00004
|
NM_001164508.2(NEB):c.27G>A (p.Glu9=)
|
rs1197614931
|
0.00004
|
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln)
|
rs368642083
|
0.00004
|
NM_001164508.2(NEB):c.295-8C>T
|
rs767768026
|
0.00004
|
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val)
|
rs370976402
|
0.00004
|
NM_001164508.2(NEB):c.3567+7G>C
|
rs754580455
|
0.00004
|
NM_001164508.2(NEB):c.3570C>T (p.Asn1190=)
|
rs377168325
|
0.00004
|
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)
|
rs767493706
|
0.00004
|
NM_001164508.2(NEB):c.3923A>G (p.Asn1308Ser)
|
rs777962427
|
0.00004
|
NM_001164508.2(NEB):c.4072T>C (p.Tyr1358His)
|
rs377054979
|
0.00004
|
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys)
|
rs377653217
|
0.00004
|
NM_001164508.2(NEB):c.4127A>G (p.Asn1376Ser)
|
rs1309733626
|
0.00004
|
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met)
|
rs372694084
|
0.00004
|
NM_001164508.2(NEB):c.4300-4A>G
|
rs762231656
|
0.00004
|
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys)
|
rs771779312
|
0.00004
|
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His)
|
rs748121656
|
0.00004
|
NM_001164508.2(NEB):c.4434C>T (p.Thr1478=)
|
rs747503023
|
0.00004
|
NM_001164508.2(NEB):c.4509G>A (p.Leu1503=)
|
rs749368259
|
0.00004
|
NM_001164508.2(NEB):c.4593C>T (p.Asn1531=)
|
rs373328073
|
0.00004
|
NM_001164508.2(NEB):c.4680A>T (p.Pro1560=)
|
rs369222043
|
0.00004
|
NM_001164508.2(NEB):c.47A>T (p.Glu16Val)
|
rs748679499
|
0.00004
|
NM_001164508.2(NEB):c.486A>G (p.Lys162=)
|
rs768796648
|
0.00004
|
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu)
|
rs747225286
|
0.00004
|
NM_001164508.2(NEB):c.5043A>G (p.Lys1681=)
|
rs201968673
|
0.00004
|
NM_001164508.2(NEB):c.5073C>T (p.Ile1691=)
|
rs190322907
|
0.00004
|
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val)
|
rs1000847538
|
0.00004
|
NM_001164508.2(NEB):c.5161G>A (p.Glu1721Lys)
|
rs750732565
|
0.00004
|
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser)
|
rs368270996
|
0.00004
|
NM_001164508.2(NEB):c.5229C>T (p.Asn1743=)
|
rs769446481
|
0.00004
|
NM_001164508.2(NEB):c.5413A>G (p.Ile1805Val)
|
rs200412065
|
0.00004
|
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val)
|
rs752744680
|
0.00004
|
NM_001164508.2(NEB):c.5452-4A>G
|
rs376623225
|
0.00004
|
NM_001164508.2(NEB):c.5641G>A (p.Ala1881Thr)
|
rs547507758
|
0.00004
|
NM_001164508.2(NEB):c.5685C>T (p.Asn1895=)
|
rs767710041
|
0.00004
|
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg)
|
rs758655350
|
0.00004
|
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala)
|
rs764064217
|
0.00004
|
NM_001164508.2(NEB):c.6075+3A>C
|
rs986325764
|
0.00004
|
NM_001164508.2(NEB):c.6248A>G (p.Asp2083Gly)
|
rs368626849
|
0.00004
|
NM_001164508.2(NEB):c.6351C>T (p.Ala2117=)
|
rs756476348
|
0.00004
|
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=)
|
rs376535906
|
0.00004
|
NM_001164508.2(NEB):c.6916-20T>C
|
rs780933765
|
0.00004
|
NM_001164508.2(NEB):c.6932G>C (p.Gly2311Ala)
|
rs372655602
|
0.00004
|
NM_001164508.2(NEB):c.7134C>T (p.Asp2378=)
|
rs752098313
|
0.00004
|
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu)
|
rs777231395
|
0.00004
|
NM_001164508.2(NEB):c.7549A>G (p.Met2517Val)
|
rs577856870
|
0.00004
|
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn)
|
rs369496057
|
0.00004
|
NM_001164508.2(NEB):c.7677C>T (p.Leu2559=)
|
rs371565168
|
0.00004
|
NM_001164508.2(NEB):c.7758C>T (p.Asp2586=)
|
rs559846137
|
0.00004
|
NM_001164508.2(NEB):c.7864G>A (p.Val2622Met)
|
rs905660353
|
0.00004
|
NM_001164508.2(NEB):c.7905C>T (p.Pro2635=)
|
rs768623821
|
0.00004
|
NM_001164508.2(NEB):c.7906G>A (p.Asp2636Asn)
|
rs760643814
|
0.00004
|
NM_001164508.2(NEB):c.8104C>T (p.Leu2702Phe)
|
rs372248515
|
0.00004
|
NM_001164508.2(NEB):c.8265+3A>T
|
rs374475460
|
0.00004
|
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr)
|
rs990382620
|
0.00004
|
NM_001164508.2(NEB):c.8582T>C (p.Leu2861Ser)
|
rs529735446
|
0.00004
|
NM_001164508.2(NEB):c.8635G>A (p.Asp2879Asn)
|
rs767512294
|
0.00004
|
NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn)
|
rs779416595
|
0.00004
|
NM_001164508.2(NEB):c.8834T>C (p.Val2945Ala)
|
rs748120166
|
0.00004
|
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg)
|
rs760903716
|
0.00004
|
NM_001164508.2(NEB):c.8994+14C>T
|
rs769383205
|
0.00004
|
NM_001164508.2(NEB):c.8995-20T>A
|
rs769910108
|
0.00004
|
NM_001164508.2(NEB):c.9000G>A (p.Leu3000=)
|
rs755291072
|
0.00004
|
NM_001164508.2(NEB):c.9112A>G (p.Lys3038Glu)
|
rs780293943
|
0.00004
|
NM_001164508.2(NEB):c.9198A>G (p.Val3066=)
|
rs752327839
|
0.00004
|
NM_001164508.2(NEB):c.9564G>T (p.Val3188=)
|
rs769658110
|
0.00004
|
NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
NM_001164508.2(NEB):c.9813C>T (p.Ser3271=)
|
rs372239158
|
0.00004
|
NM_001164508.2(NEB):c.9864C>T (p.Leu3288=)
|
rs775810612
|
0.00004
|
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn)
|
rs183321773
|
0.00003
|
NM_001164508.2(NEB):c.10127A>G (p.Tyr3376Cys)
|
rs754298562
|
0.00003
|
NM_001164508.2(NEB):c.10231G>A (p.Ala3411Thr)
|
rs727504034
|
0.00003
|
NM_001164508.2(NEB):c.1035+7G>A
|
rs748388746
|
0.00003
|
NM_001164508.2(NEB):c.104C>T (p.Thr35Met)
|
rs749153659
|
0.00003
|
NM_001164508.2(NEB):c.10578A>G (p.Ala3526=)
|
rs760118695
|
0.00003
|
NM_001164508.2(NEB):c.10676G>A (p.Arg3559His)
|
rs376558062
|
0.00003
|
NM_001164508.2(NEB):c.10847G>A (p.Arg3616Gln)
|
rs774454536
|
0.00003
|
NM_001164508.2(NEB):c.10860C>A (p.Asp3620Glu)
|
rs748243107
|
0.00003
|
NM_001164508.2(NEB):c.10872C>T (p.Asp3624=)
|
rs781328083
|
0.00003
|
NM_001164508.2(NEB):c.10913G>T (p.Gly3638Val)
|
rs370161504
|
0.00003
|
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr)
|
rs201614105
|
0.00003
|
NM_001164508.2(NEB):c.11033C>T (p.Pro3678Leu)
|
rs752318455
|
0.00003
|
NM_001164508.2(NEB):c.11072A>G (p.Asn3691Ser)
|
rs1184035076
|
0.00003
|
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu)
|
rs765379397
|
0.00003
|
NM_001164508.2(NEB):c.11361G>A (p.Pro3787=)
|
rs200043736
|
0.00003
|
NM_001164508.2(NEB):c.11562C>T (p.Asp3854=)
|
rs376268872
|
0.00003
|
NM_001164508.2(NEB):c.11570A>G (p.Gln3857Arg)
|
rs760525587
|
0.00003
|
NM_001164508.2(NEB):c.11581G>T (p.Ala3861Ser)
|
rs750748717
|
0.00003
|
NM_001164508.2(NEB):c.11671G>A (p.Glu3891Lys)
|
rs753450456
|
0.00003
|
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly)
|
rs1015014078
|
0.00003
|
NM_001164508.2(NEB):c.11766A>T (p.Glu3922Asp)
|
rs368162982
|
0.00003
|
NM_001164508.2(NEB):c.11806-7C>A
|
rs779713133
|
0.00003
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
NM_001164508.2(NEB):c.11915T>G (p.Leu3972Arg)
|
rs769145449
|
0.00003
|
NM_001164508.2(NEB):c.12010G>A (p.Ala4004Thr)
|
rs750705899
|
0.00003
|
NM_001164508.2(NEB):c.12018+1G>A
|
rs762278237
|
0.00003
|
NM_001164508.2(NEB):c.12200T>C (p.Ile4067Thr)
|
rs746008098
|
0.00003
|
NM_001164508.2(NEB):c.12210C>G (p.Ala4070=)
|
rs749556191
|
0.00003
|
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His)
|
rs376019368
|
0.00003
|
NM_001164508.2(NEB):c.12288C>T (p.Asn4096=)
|
rs755521679
|
0.00003
|
NM_001164508.2(NEB):c.1230T>C (p.Asp410=)
|
rs78892743
|
0.00003
|
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys)
|
rs756162358
|
0.00003
|
NM_001164508.2(NEB):c.12639+11C>T
|
rs1057523954
|
0.00003
|
NM_001164508.2(NEB):c.12666C>T (p.Asp4222=)
|
rs1310326732
|
0.00003
|
NM_001164508.2(NEB):c.12747+4C>T
|
rs1436792470
|
0.00003
|
NM_001164508.2(NEB):c.1339A>G (p.Met447Val)
|
rs774284999
|
0.00003
|
NM_001164508.2(NEB):c.1365+14C>A
|
rs750849844
|
0.00003
|
NM_001164508.2(NEB):c.16791C>T (p.Ala5597=)
|
rs1424776223
|
0.00003
|
NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met)
|
rs200952733
|
0.00003
|
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val)
|
rs767425744
|
0.00003
|
NM_001164508.2(NEB):c.17101A>G (p.Arg5701Gly)
|
rs1332674015
|
0.00003
|
NM_001164508.2(NEB):c.17118+8G>A
|
rs767062620
|
0.00003
|
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg)
|
rs200501968
|
0.00003
|
NM_001164508.2(NEB):c.1713A>G (p.Lys571=)
|
rs753119399
|
0.00003
|
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser)
|
rs758068422
|
0.00003
|
NM_001164508.2(NEB):c.17445T>C (p.Ala5815=)
|
rs1446851456
|
0.00003
|
NM_001164508.2(NEB):c.17520G>A (p.Ala5840=)
|
rs372786852
|
0.00003
|
NM_001164508.2(NEB):c.17574G>A (p.Thr5858=)
|
rs780714195
|
0.00003
|
NM_001164508.2(NEB):c.17635-15_17635-14insG
|
rs1359883456
|
0.00003
|
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala)
|
rs762095177
|
0.00003
|
NM_001164508.2(NEB):c.17922G>T (p.Leu5974=)
|
rs1327308371
|
0.00003
|
NM_001164508.2(NEB):c.18012T>C (p.Ala6004=)
|
rs760396389
|
0.00003
|
NM_001164508.2(NEB):c.18033C>T (p.Ala6011=)
|
rs771890971
|
0.00003
|
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His)
|
rs751957350
|
0.00003
|
NM_001164508.2(NEB):c.18472-1G>C
|
rs1203257517
|
0.00003
|
NM_001164508.2(NEB):c.18693+5G>A
|
rs377482159
|
0.00003
|
NM_001164508.2(NEB):c.18737A>G (p.His6246Arg)
|
rs760552939
|
0.00003
|
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=)
|
rs374874999
|
0.00003
|
NM_001164508.2(NEB):c.18892-19T>C
|
rs777342340
|
0.00003
|
NM_001164508.2(NEB):c.1896T>A (p.Asp632Glu)
|
rs978952705
|
0.00003
|
NM_001164508.2(NEB):c.18981C>T (p.Tyr6327=)
|
rs761964375
|
0.00003
|
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn)
|
rs768390701
|
0.00003
|
NM_001164508.2(NEB):c.19101+4C>T
|
rs778716460
|
0.00003
|
NM_001164508.2(NEB):c.19245C>T (p.Thr6415=)
|
rs967486464
|
0.00003
|
NM_001164508.2(NEB):c.19272G>A (p.Leu6424=)
|
rs772134778
|
0.00003
|
NM_001164508.2(NEB):c.19625A>G (p.Asp6542Gly)
|
rs753830499
|
0.00003
|
NM_001164508.2(NEB):c.19699C>A (p.His6567Asn)
|
rs886054933
|
0.00003
|
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)
|
rs185999504
|
0.00003
|
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met)
|
rs553079055
|
0.00003
|
NM_001164508.2(NEB):c.19836+1G>A
|
rs1446930968
|
0.00003
|
NM_001164508.2(NEB):c.19836C>T (p.Asp6612=)
|
rs371194689
|
0.00003
|
NM_001164508.2(NEB):c.20154C>T (p.Ser6718=)
|
rs753253128
|
0.00003
|
NM_001164508.2(NEB):c.20227C>T (p.Arg6743Cys)
|
rs762552898
|
0.00003
|
NM_001164508.2(NEB):c.20367+15G>C
|
rs886054931
|
0.00003
|
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val)
|
rs370764959
|
0.00003
|
NM_001164508.2(NEB):c.20578-8A>G
|
rs368526624
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001164508.2(NEB):c.20670G>A (p.Lys6890=)
|
rs768041857
|
0.00003
|
NM_001164508.2(NEB):c.2074C>T (p.His692Tyr)
|
rs753761094
|
0.00003
|
NM_001164508.2(NEB):c.20847G>A (p.Thr6949=)
|
rs759425229
|
0.00003
|
NM_001164508.2(NEB):c.20966A>T (p.Tyr6989Phe)
|
rs537451022
|
0.00003
|
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His)
|
rs781020561
|
0.00003
|
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)
|
rs769345284
|
0.00003
|
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys)
|
rs755165133
|
0.00003
|
NM_001164508.2(NEB):c.21276T>C (p.Asn7092=)
|
rs780045200
|
0.00003
|
NM_001164508.2(NEB):c.21504del (p.Asn7169fs)
|
rs934955715
|
0.00003
|
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys)
|
rs200826420
|
0.00003
|
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg)
|
rs200250294
|
0.00003
|
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=)
|
rs539800267
|
0.00003
|
NM_001164508.2(NEB):c.22162-14C>G
|
rs377752982
|
0.00003
|
NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser)
|
rs764674361
|
0.00003
|
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His)
|
rs767207985
|
0.00003
|
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val)
|
rs374581669
|
0.00003
|
NM_001164508.2(NEB):c.22479+7del
|
rs750798983
|
0.00003
|
NM_001164508.2(NEB):c.22776A>G (p.Lys7592=)
|
rs757671458
|
0.00003
|
NM_001164508.2(NEB):c.22800+1G>A
|
rs1302373559
|
0.00003
|
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln)
|
rs766321668
|
0.00003
|
NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser)
|
rs775756899
|
0.00003
|
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu)
|
rs750689059
|
0.00003
|
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp)
|
rs762220487
|
0.00003
|
NM_001164508.2(NEB):c.23557-4C>T
|
rs368774294
|
0.00003
|
NM_001164508.2(NEB):c.23595C>T (p.Ile7865=)
|
rs370825760
|
0.00003
|
NM_001164508.2(NEB):c.23630C>T (p.Thr7877Ile)
|
rs772064998
|
0.00003
|
NM_001164508.2(NEB):c.24058A>G (p.Ile8020Val)
|
rs144634228
|
0.00003
|
NM_001164508.2(NEB):c.24275A>G (p.Lys8092Arg)
|
rs200761405
|
0.00003
|
NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu)
|
rs759261311
|
0.00003
|
NM_001164508.2(NEB):c.24350C>T (p.Pro8117Leu)
|
rs541150975
|
0.00003
|
NM_001164508.2(NEB):c.24457G>A (p.Val8153Ile)
|
rs1482662133
|
0.00003
|
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)
|
rs754272530
|
0.00003
|
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys)
|
rs200664592
|
0.00003
|
NM_001164508.2(NEB):c.24640A>G (p.Arg8214Gly)
|
rs772803200
|
0.00003
|
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys)
|
rs542275170
|
0.00003
|
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu)
|
rs571935637
|
0.00003
|
NM_001164508.2(NEB):c.24812C>T (p.Ala8271Val)
|
rs749977606
|
0.00003
|
NM_001164508.2(NEB):c.24827C>G (p.Thr8276Ser)
|
rs760442721
|
0.00003
|
NM_001164508.2(NEB):c.24999G>C (p.Gln8333His)
|
rs774663967
|
0.00003
|
NM_001164508.2(NEB):c.25117A>G (p.Asn8373Asp)
|
rs1416760785
|
0.00003
|
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys)
|
rs371600800
|
0.00003
|
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)
|
rs749034995
|
0.00003
|
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln)
|
rs779983347
|
0.00003
|
NM_001164508.2(NEB):c.25445C>G (p.Ala8482Gly)
|
rs774603877
|
0.00003
|
NM_001164508.2(NEB):c.25470A>G (p.Gly8490=)
|
rs778502509
|
0.00003
|
NM_001164508.2(NEB):c.2550G>A (p.Lys850=)
|
rs1012090134
|
0.00003
|
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr)
|
rs775823432
|
0.00003
|
NM_001164508.2(NEB):c.2780C>G (p.Pro927Arg)
|
rs201124975
|
0.00003
|
NM_001164508.2(NEB):c.2811G>A (p.Lys937=)
|
rs756495284
|
0.00003
|
NM_001164508.2(NEB):c.2944-16T>C
|
rs1057224357
|
0.00003
|
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=)
|
rs372664114
|
0.00003
|
NM_001164508.2(NEB):c.3399A>G (p.Thr1133=)
|
rs543961404
|
0.00003
|
NM_001164508.2(NEB):c.339C>T (p.Tyr113=)
|
rs546510007
|
0.00003
|
NM_001164508.2(NEB):c.340G>A (p.Ala114Thr)
|
rs779928749
|
0.00003
|
NM_001164508.2(NEB):c.3438C>T (p.Val1146=)
|
rs373118761
|
0.00003
|
NM_001164508.2(NEB):c.3567T>A (p.Asp1189Glu)
|
rs781515499
|
0.00003
|
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys)
|
rs764769462
|
0.00003
|
NM_001164508.2(NEB):c.3658G>A (p.Gly1220Ser)
|
rs1320792762
|
0.00003
|
NM_001164508.2(NEB):c.3696A>G (p.Pro1232=)
|
rs201420007
|
0.00003
|
NM_001164508.2(NEB):c.384A>G (p.Val128=)
|
rs1367507542
|
0.00003
|
NM_001164508.2(NEB):c.403G>A (p.Val135Ile)
|
rs373729655
|
0.00003
|
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp)
|
rs1219268531
|
0.00003
|
NM_001164508.2(NEB):c.4341C>T (p.Ile1447=)
|
rs576286059
|
0.00003
|
NM_001164508.2(NEB):c.4393G>A (p.Asp1465Asn)
|
rs745382279
|
0.00003
|
NM_001164508.2(NEB):c.448G>A (p.Val150Ile)
|
rs376288418
|
0.00003
|
NM_001164508.2(NEB):c.475C>T (p.His159Tyr)
|
rs776746330
|
0.00003
|
NM_001164508.2(NEB):c.4835G>A (p.Arg1612His)
|
rs534531948
|
0.00003
|
NM_001164508.2(NEB):c.5121A>G (p.Ala1707=)
|
rs371962475
|
0.00003
|
NM_001164508.2(NEB):c.5149C>T (p.Arg1717Cys)
|
rs769725005
|
0.00003
|
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr)
|
rs371639863
|
0.00003
|
NM_001164508.2(NEB):c.5581G>A (p.Gly1861Arg)
|
rs1413371715
|
0.00003
|
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val)
|
rs201940342
|
0.00003
|
NM_001164508.2(NEB):c.5671G>A (p.Ala1891Thr)
|
rs1553484895
|
0.00003
|
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro)
|
rs531692437
|
0.00003
|
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val)
|
rs200649387
|
0.00003
|
NM_001164508.2(NEB):c.586G>A (p.Val196Ile)
|
rs201433028
|
0.00003
|
NM_001164508.2(NEB):c.6067A>G (p.Met2023Val)
|
rs779481792
|
0.00003
|
NM_001164508.2(NEB):c.6075+18del
|
rs1444018232
|
0.00003
|
NM_001164508.2(NEB):c.6135T>C (p.Asp2045=)
|
rs886042654
|
0.00003
|
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys)
|
rs372667149
|
0.00003
|
NM_001164508.2(NEB):c.6315C>T (p.Asn2105=)
|
rs752114805
|
0.00003
|
NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala)
|
rs578023308
|
0.00003
|
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp)
|
rs751935179
|
0.00003
|
NM_001164508.2(NEB):c.6415C>G (p.His2139Asp)
|
rs886044641
|
0.00003
|
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val)
|
rs375256600
|
0.00003
|
NM_001164508.2(NEB):c.6495+6G>A
|
rs1022052250
|
0.00003
|
NM_001164508.2(NEB):c.65A>G (p.Glu22Gly)
|
rs1335474782
|
0.00003
|
NM_001164508.2(NEB):c.6613C>T (p.Arg2205Cys)
|
rs577410545
|
0.00003
|
NM_001164508.2(NEB):c.6631T>C (p.Phe2211Leu)
|
rs369374856
|
0.00003
|
NM_001164508.2(NEB):c.6807+11A>G
|
rs745490728
|
0.00003
|
NM_001164508.2(NEB):c.7167A>G (p.Thr2389=)
|
rs768429146
|
0.00003
|
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg)
|
rs780437384
|
0.00003
|
NM_001164508.2(NEB):c.7545C>T (p.Tyr2515=)
|
rs776265168
|
0.00003
|
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=)
|
rs371570995
|
0.00003
|
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp)
|
rs368148074
|
0.00003
|
NM_001164508.2(NEB):c.772G>A (p.Asp258Asn)
|
rs267598926
|
0.00003
|
NM_001164508.2(NEB):c.7808C>T (p.Pro2603Leu)
|
rs1259492469
|
0.00003
|
NM_001164508.2(NEB):c.7917T>C (p.Asp2639=)
|
rs745410848
|
0.00003
|
NM_001164508.2(NEB):c.7957-9C>A
|
rs747482412
|
0.00003
|
NM_001164508.2(NEB):c.8393A>G (p.Tyr2798Cys)
|
rs750799792
|
0.00003
|
NM_001164508.2(NEB):c.8738T>C (p.Ile2913Thr)
|
rs368373064
|
0.00003
|
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val)
|
rs768058972
|
0.00003
|
NM_001164508.2(NEB):c.9066C>T (p.Ile3022=)
|
rs751919085
|
0.00003
|
NM_001164508.2(NEB):c.9111T>C (p.Tyr3037=)
|
rs1488961406
|
0.00003
|
NM_001164508.2(NEB):c.9132A>G (p.Gln3044=)
|
rs1237001968
|
0.00003
|
NM_001164508.2(NEB):c.9135T>C (p.Leu3045=)
|
rs1443551422
|
0.00003
|
NM_001164508.2(NEB):c.9144T>C (p.His3048=)
|
rs1279204640
|
0.00003
|
NM_001164508.2(NEB):c.9151G>A (p.Ala3051Thr)
|
rs751613683
|
0.00003
|
NM_001164508.2(NEB):c.9154C>T (p.Arg3052Trp)
|
rs375216659
|
0.00003
|
NM_001164508.2(NEB):c.9285G>A (p.Val3095=)
|
rs1306359674
|
0.00003
|
NM_001164508.2(NEB):c.9366C>A (p.Asp3122Glu)
|
rs1271867113
|
0.00003
|
NM_001164508.2(NEB):c.9473C>G (p.Ser3158Cys)
|
rs377606986
|
0.00003
|
NM_001164508.2(NEB):c.9619-14A>G
|
rs374444328
|
0.00003
|
NM_001164508.2(NEB):c.9729A>G (p.Leu3243=)
|
rs767498749
|
0.00003
|
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser)
|
rs139548702
|
0.00003
|
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn)
|
rs780275367
|
0.00003
|
NM_001164508.2(NEB):c.9799G>T (p.Ala3267Ser)
|
rs751450878
|
0.00003
|
NM_001164508.2(NEB):c.9827G>A (p.Ser3276Asn)
|
rs1168444365
|
0.00003
|
NM_001164507.2(NEB):c.21315A>G (p.Lys7105=)
|
rs577494262
|
0.00002
|
NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn)
|
rs372827767
|
0.00002
|
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu)
|
rs199934793
|
0.00002
|
NM_001164508.2(NEB):c.10082C>T (p.Thr3361Met)
|
rs745706462
|
0.00002
|
NM_001164508.2(NEB):c.10171C>T (p.Leu3391=)
|
rs1447971037
|
0.00002
|
NM_001164508.2(NEB):c.10282T>C (p.Phe3428Leu)
|
rs766193154
|
0.00002
|
NM_001164508.2(NEB):c.10452+5G>A
|
rs370685957
|
0.00002
|
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val)
|
rs761174573
|
0.00002
|
NM_001164508.2(NEB):c.10544G>A (p.Arg3515Gln)
|
rs748799656
|
0.00002
|
NM_001164508.2(NEB):c.10743C>T (p.Ile3581=)
|
rs745748427
|
0.00002
|
NM_001164508.2(NEB):c.10923G>A (p.Pro3641=)
|
rs563836738
|
0.00002
|
NM_001164508.2(NEB):c.10977T>C (p.Asp3659=)
|
rs767853017
|
0.00002
|
NM_001164508.2(NEB):c.11077-18T>C
|
rs1055787776
|
0.00002
|
NM_001164508.2(NEB):c.11091A>C (p.Glu3697Asp)
|
rs1470685965
|
0.00002
|
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu)
|
rs551261559
|
0.00002
|
NM_001164508.2(NEB):c.11225A>G (p.Tyr3742Cys)
|
rs752598891
|
0.00002
|
NM_001164508.2(NEB):c.11310C>T (p.Tyr3770=)
|
rs1285651436
|
0.00002
|
NM_001164508.2(NEB):c.11413A>G (p.Lys3805Glu)
|
rs972557338
|
0.00002
|
NM_001164508.2(NEB):c.11418G>A (p.Lys3806=)
|
rs755477956
|
0.00002
|
NM_001164508.2(NEB):c.11457G>A (p.Val3819=)
|
rs780152095
|
0.00002
|
NM_001164508.2(NEB):c.11517C>T (p.Tyr3839=)
|
rs748370445
|
0.00002
|
NM_001164508.2(NEB):c.11575C>T (p.Arg3859Trp)
|
rs562669490
|
0.00002
|
NM_001164508.2(NEB):c.11602-17C>G
|
rs1383240433
|
0.00002
|
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)
|
rs776569219
|
0.00002
|
NM_001164508.2(NEB):c.11709G>A (p.Arg3903=)
|
rs570142622
|
0.00002
|
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys)
|
rs759419548
|
0.00002
|
NM_001164508.2(NEB):c.11754C>T (p.Thr3918=)
|
rs368230090
|
0.00002
|
NM_001164508.2(NEB):c.11806-4G>A
|
rs374477471
|
0.00002
|
NM_001164508.2(NEB):c.1213C>A (p.Pro405Thr)
|
rs1008850251
|
0.00002
|
NM_001164508.2(NEB):c.12143A>G (p.Lys4048Arg)
|
rs1284970605
|
0.00002
|
NM_001164508.2(NEB):c.12258G>C (p.Leu4086=)
|
rs371771414
|
0.00002
|
NM_001164508.2(NEB):c.12278C>T (p.Pro4093Leu)
|
rs749270501
|
0.00002
|
NM_001164508.2(NEB):c.12280G>C (p.Asp4094His)
|
rs748607410
|
0.00002
|
NM_001164508.2(NEB):c.12312C>T (p.Ala4104=)
|
rs1436769995
|
0.00002
|
NM_001164508.2(NEB):c.12330+4C>T
|
rs772068098
|
0.00002
|
NM_001164508.2(NEB):c.12331-5T>C
|
rs1171513278
|
0.00002
|
NM_001164508.2(NEB):c.12630A>G (p.Gln4210=)
|
rs755977726
|
0.00002
|
NM_001164508.2(NEB):c.12732A>G (p.Arg4244=)
|
rs1396568234
|
0.00002
|
NM_001164508.2(NEB):c.12947G>A (p.Cys4316Tyr)
|
rs1192654922
|
0.00002
|
NM_001164508.2(NEB):c.12961A>G (p.Ser4321Gly)
|
rs1447644538
|
0.00002
|
NM_001164508.2(NEB):c.12976C>T (p.Arg4326Cys)
|
rs1270122330
|
0.00002
|
NM_001164508.2(NEB):c.12999G>C (p.Thr4333=)
|
rs1384738774
|
0.00002
|
NM_001164508.2(NEB):c.13018G>A (p.Asp4340Asn)
|
rs1462818722
|
0.00002
|
NM_001164508.2(NEB):c.13221G>A (p.Pro4407=)
|
rs1240952464
|
0.00002
|
NM_001164508.2(NEB):c.1504T>C (p.Phe502Leu)
|
rs759653954
|
0.00002
|
NM_001164508.2(NEB):c.1512A>T (p.Gln504His)
|
rs774485087
|
0.00002
|
NM_001164508.2(NEB):c.16735C>T (p.Arg5579Cys)
|
rs762876022
|
0.00002
|
NM_001164508.2(NEB):c.1675-7T>C
|
rs757361284
|
0.00002
|
NM_001164508.2(NEB):c.16827T>C (p.Pro5609=)
|
rs764056031
|
0.00002
|
NM_001164508.2(NEB):c.16828G>T (p.Val5610Leu)
|
rs759755890
|
0.00002
|
NM_001164508.2(NEB):c.16845C>T (p.Tyr5615=)
|
rs375434588
|
0.00002
|
NM_001164508.2(NEB):c.16995T>C (p.Asn5665=)
|
rs761988373
|
0.00002
|
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met)
|
rs746737604
|
0.00002
|
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn)
|
rs374867405
|
0.00002
|
NM_001164508.2(NEB):c.17200T>C (p.Trp5734Arg)
|
rs369065324
|
0.00002
|
NM_001164508.2(NEB):c.17274C>T (p.Ile5758=)
|
rs372754098
|
0.00002
|
NM_001164508.2(NEB):c.17369C>T (p.Thr5790Ile)
|
rs752014573
|
0.00002
|
NM_001164508.2(NEB):c.17379C>T (p.Pro5793=)
|
rs750950248
|
0.00002
|
NM_001164508.2(NEB):c.17380G>A (p.Asp5794Asn)
|
rs765593110
|
0.00002
|
NM_001164508.2(NEB):c.17388C>T (p.Asn5796=)
|
rs368315700
|
0.00002
|
NM_001164508.2(NEB):c.17389G>A (p.Asp5797Asn)
|
rs375143141
|
0.00002
|
NM_001164508.2(NEB):c.17391T>C (p.Asp5797=)
|
rs775083049
|
0.00002
|
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr)
|
rs1204919597
|
0.00002
|
NM_001164508.2(NEB):c.17619C>A (p.Gly5873=)
|
rs767518298
|
0.00002
|
NM_001164508.2(NEB):c.17629G>A (p.Asp5877Asn)
|
rs771170217
|
0.00002
|
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr)
|
rs1267739726
|
0.00002
|
NM_001164508.2(NEB):c.18052C>T (p.Leu6018Phe)
|
rs1223624917
|
0.00002
|
NM_001164508.2(NEB):c.18063T>C (p.Asp6021=)
|
rs1445425739
|
0.00002
|
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys)
|
rs533393007
|
0.00002
|
NM_001164508.2(NEB):c.18157-20A>G
|
rs747415022
|
0.00002
|
NM_001164508.2(NEB):c.1818G>A (p.Gly606=)
|
rs560312070
|
0.00002
|
NM_001164508.2(NEB):c.18226G>C (p.Val6076Leu)
|
rs747222372
|
0.00002
|
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile)
|
rs553375465
|
0.00002
|
NM_001164508.2(NEB):c.1829G>A (p.Gly610Glu)
|
rs139125293
|
0.00002
|
NM_001164508.2(NEB):c.18366+9G>A
|
rs759834773
|
0.00002
|
NM_001164508.2(NEB):c.18411G>A (p.Thr6137=)
|
rs767659024
|
0.00002
|
NM_001164508.2(NEB):c.18519C>T (p.Thr6173=)
|
rs745448583
|
0.00002
|
NM_001164508.2(NEB):c.18567G>A (p.Leu6189=)
|
rs773819516
|
0.00002
|
NM_001164508.2(NEB):c.18622C>G (p.Leu6208Val)
|
rs374727099
|
0.00002
|
NM_001164508.2(NEB):c.18693+9_18693+10del
|
rs756671954
|
0.00002
|
NM_001164508.2(NEB):c.18694-7del
|
rs763587657
|
0.00002
|
NM_001164508.2(NEB):c.18720T>C (p.Asp6240=)
|
rs761648965
|
0.00002
|
NM_001164508.2(NEB):c.1872G>T (p.Leu624Phe)
|
rs775430225
|
0.00002
|
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met)
|
rs371689870
|
0.00002
|
NM_001164508.2(NEB):c.19121A>G (p.Tyr6374Cys)
|
rs1177490619
|
0.00002
|
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln)
|
rs375182306
|
0.00002
|
NM_001164508.2(NEB):c.19385C>T (p.Pro6462Leu)
|
rs369054525
|
0.00002
|
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys)
|
rs765363585
|
0.00002
|
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His)
|
rs757278862
|
0.00002
|
NM_001164508.2(NEB):c.1954A>G (p.Thr652Ala)
|
rs752227497
|
0.00002
|
NM_001164508.2(NEB):c.19596C>T (p.His6532=)
|
rs1182429085
|
0.00002
|
NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg)
|
rs779842159
|
0.00002
|
NM_001164508.2(NEB):c.19689T>C (p.Pro6563=)
|
rs1345707996
|
0.00002
|
NM_001164508.2(NEB):c.19704C>T (p.Ala6568=)
|
rs760335435
|
0.00002
|
NM_001164508.2(NEB):c.19861C>T (p.His6621Tyr)
|
rs1559832482
|
0.00002
|
NM_001164508.2(NEB):c.19913G>A (p.Arg6638Gln)
|
rs375307136
|
0.00002
|
NM_001164508.2(NEB):c.19926A>G (p.Ala6642=)
|
rs370185522
|
0.00002
|
NM_001164508.2(NEB):c.19978A>G (p.Thr6660Ala)
|
rs1027633106
|
0.00002
|
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro)
|
rs560109089
|
0.00002
|
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser)
|
rs536934629
|
0.00002
|
NM_001164508.2(NEB):c.20262+3G>A
|
rs763862179
|
0.00002
|
NM_001164508.2(NEB):c.20342G>A (p.Arg6781His)
|
rs752285938
|
0.00002
|
NM_001164508.2(NEB):c.20367+12_20367+13del
|
rs1438846790
|
0.00002
|
NM_001164508.2(NEB):c.20415C>T (p.Phe6805=)
|
rs760807907
|
0.00002
|
NM_001164508.2(NEB):c.20467-16T>G
|
rs750760976
|
0.00002
|
NM_001164508.2(NEB):c.20467-5T>A
|
rs762368980
|
0.00002
|
NM_001164508.2(NEB):c.20467-7T>G
|
rs1259953150
|
0.00002
|
NM_001164508.2(NEB):c.20610G>A (p.Lys6870=)
|
rs372199850
|
0.00002
|
NM_001164508.2(NEB):c.20655C>A (p.Ala6885=)
|
rs188280277
|
0.00002
|
NM_001164508.2(NEB):c.20683-9A>G
|
rs769188838
|
0.00002
|
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr)
|
rs750152377
|
0.00002
|
NM_001164508.2(NEB):c.20902A>G (p.Lys6968Glu)
|
rs376580237
|
0.00002
|
NM_001164508.2(NEB):c.21208-11G>A
|
rs1057522156
|
0.00002
|
NM_001164508.2(NEB):c.21261C>T (p.Ala7087=)
|
rs374884826
|
0.00002
|
NM_001164508.2(NEB):c.21266C>G (p.Ser7089Cys)
|
rs774297352
|
0.00002
|
NM_001164508.2(NEB):c.21310G>A (p.Glu7104Lys)
|
rs754354488
|
0.00002
|
NM_001164508.2(NEB):c.21313-655G>A
|
rs888033278
|
0.00002
|
NM_001164508.2(NEB):c.21313-781T>C
|
rs1484679285
|
0.00002
|
NM_001164508.2(NEB):c.21313-7T>C
|
rs916066756
|
0.00002
|
NM_001164508.2(NEB):c.21393C>T (p.Leu7131=)
|
rs760537153
|
0.00002
|
NM_001164508.2(NEB):c.21401C>T (p.Ser7134Leu)
|
rs1199851750
|
0.00002
|
NM_001164508.2(NEB):c.21402G>A (p.Ser7134=)
|
rs1042514269
|
0.00002
|
NM_001164508.2(NEB):c.21486C>T (p.His7162=)
|
rs146637177
|
0.00002
|
NM_001164508.2(NEB):c.21689C>T (p.Ala7230Val)
|
rs368315910
|
0.00002
|
NM_001164508.2(NEB):c.21837C>T (p.Ser7279=)
|
rs759583403
|
0.00002
|
NM_001164508.2(NEB):c.21862G>C (p.Glu7288Gln)
|
rs768693028
|
0.00002
|
NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr)
|
rs1289511955
|
0.00002
|
NM_001164508.2(NEB):c.22041G>A (p.Leu7347=)
|
rs371317825
|
0.00002
|
NM_001164508.2(NEB):c.22159G>C (p.Asp7387His)
|
rs770527289
|
0.00002
|
NM_001164508.2(NEB):c.22273-8C>A
|
rs1271025149
|
0.00002
|
NM_001164508.2(NEB):c.22276G>A (p.Ala7426Thr)
|
rs765921628
|
0.00002
|
NM_001164508.2(NEB):c.22414G>A (p.Gly7472Ser)
|
rs376101302
|
0.00002
|
NM_001164508.2(NEB):c.22582G>A (p.Ala7528Thr)
|
rs765109120
|
0.00002
|
NM_001164508.2(NEB):c.22617A>T (p.Lys7539Asn)
|
rs755199802
|
0.00002
|
NM_001164508.2(NEB):c.22671G>C (p.Leu7557=)
|
rs775154161
|
0.00002
|
NM_001164508.2(NEB):c.22785A>G (p.Thr7595=)
|
rs764672920
|
0.00002
|
NM_001164508.2(NEB):c.228G>A (p.Val76=)
|
rs755926462
|
0.00002
|
NM_001164508.2(NEB):c.22923T>C (p.Asp7641=)
|
rs1288580994
|
0.00002
|
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr)
|
rs373852098
|
0.00002
|
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu)
|
rs372387518
|
0.00002
|
NM_001164508.2(NEB):c.23326G>A (p.Val7776Ile)
|
rs779818222
|
0.00002
|
NM_001164508.2(NEB):c.23589G>A (p.Thr7863=)
|
rs762846826
|
0.00002
|
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu)
|
rs374029795
|
0.00002
|
NM_001164508.2(NEB):c.23650-5T>G
|
rs773618223
|
0.00002
|
NM_001164508.2(NEB):c.23727G>A (p.Gln7909=)
|
rs757122461
|
0.00002
|
NM_001164508.2(NEB):c.23754A>G (p.Lys7918=)
|
rs750445824
|
0.00002
|
NM_001164508.2(NEB):c.2382C>T (p.Ile794=)
|
rs532547534
|
0.00002
|
NM_001164508.2(NEB):c.23835+14T>G
|
rs754114947
|
0.00002
|
NM_001164508.2(NEB):c.23928+4T>C
|
rs768465696
|
0.00002
|
NM_001164508.2(NEB):c.24021G>A (p.Ser8007=)
|
rs557688789
|
0.00002
|
NM_001164508.2(NEB):c.24040G>A (p.Val8014Ile)
|
rs182325166
|
0.00002
|
NM_001164508.2(NEB):c.24115-5T>C
|
rs1428535709
|
0.00002
|
NM_001164508.2(NEB):c.24137G>A (p.Gly8046Glu)
|
rs766357828
|
0.00002
|
NM_001164508.2(NEB):c.24208-10T>C
|
rs1061322
|
0.00002
|
NM_001164508.2(NEB):c.24358G>A (p.Glu8120Lys)
|
rs969631939
|
0.00002
|
NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter)
|
rs758277406
|
0.00002
|
NM_001164508.2(NEB):c.24507G>A (p.Val8169=)
|
rs778385532
|
0.00002
|
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu)
|
rs751680308
|
0.00002
|
NM_001164508.2(NEB):c.24549A>G (p.Arg8183=)
|
rs758426581
|
0.00002
|
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)
|
rs759962661
|
0.00002
|
NM_001164508.2(NEB):c.24645G>A (p.Val8215=)
|
rs769610035
|
0.00002
|
NM_001164508.2(NEB):c.24681C>T (p.Tyr8227=)
|
rs898626861
|
0.00002
|
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys)
|
rs748561855
|
0.00002
|
NM_001164508.2(NEB):c.2490G>A (p.Leu830=)
|
rs1259136731
|
0.00002
|
NM_001164508.2(NEB):c.24967G>A (p.Asp8323Asn)
|
rs764260738
|
0.00002
|
NM_001164508.2(NEB):c.24970T>C (p.Phe8324Leu)
|
rs760635015
|
0.00002
|
NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln)
|
rs886054926
|
0.00002
|
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp)
|
rs561904743
|
0.00002
|
NM_001164508.2(NEB):c.2521G>A (p.Asp841Asn)
|
rs377599060
|
0.00002
|
NM_001164508.2(NEB):c.25256T>C (p.Leu8419Pro)
|
rs370819880
|
0.00002
|
NM_001164508.2(NEB):c.25414C>T (p.Arg8472Cys)
|
rs542706227
|
0.00002
|
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys)
|
rs371027084
|
0.00002
|
NM_001164508.2(NEB):c.2641G>A (p.Glu881Lys)
|
rs200486767
|
0.00002
|
NM_001164508.2(NEB):c.2940T>C (p.Asn980=)
|
rs1472489170
|
0.00002
|
NM_001164508.2(NEB):c.2943+14G>A
|
rs756509531
|
0.00002
|
NM_001164508.2(NEB):c.3042+10A>C
|
rs370534835
|
0.00002
|
NM_001164508.2(NEB):c.3094C>T (p.Pro1032Ser)
|
rs544334101
|
0.00002
|
NM_001164508.2(NEB):c.3147+9G>A
|
rs751551042
|
0.00002
|
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile)
|
rs769233880
|
0.00002
|
NM_001164508.2(NEB):c.3210G>A (p.Ala1070=)
|
rs201896003
|
0.00002
|
NM_001164508.2(NEB):c.322A>G (p.Thr108Ala)
|
rs544069233
|
0.00002
|
NM_001164508.2(NEB):c.3239G>A (p.Arg1080Lys)
|
rs1377050628
|
0.00002
|
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val)
|
rs752809792
|
0.00002
|
NM_001164508.2(NEB):c.3370C>T (p.Arg1124Trp)
|
rs758590520
|
0.00002
|
NM_001164508.2(NEB):c.3491C>A (p.Ser1164Tyr)
|
rs944276562
|
0.00002
|
NM_001164508.2(NEB):c.3497A>T (p.His1166Leu)
|
rs765273968
|
0.00002
|
NM_001164508.2(NEB):c.36+9T>A
|
rs754439228
|
0.00002
|
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn)
|
rs779673816
|
0.00002
|
NM_001164508.2(NEB):c.3657C>T (p.Ala1219=)
|
rs766494707
|
0.00002
|
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=)
|
rs763075598
|
0.00002
|
NM_001164508.2(NEB):c.4105G>A (p.Glu1369Lys)
|
rs779213215
|
0.00002
|
NM_001164508.2(NEB):c.4116G>A (p.Lys1372=)
|
rs202144520
|
0.00002
|
NM_001164508.2(NEB):c.4197C>T (p.Val1399=)
|
rs771328367
|
0.00002
|
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser)
|
rs565184120
|
0.00002
|
NM_001164508.2(NEB):c.4343G>C (p.Gly1448Ala)
|
rs756000690
|
0.00002
|
NM_001164508.2(NEB):c.4376A>T (p.Lys1459Met)
|
rs975412307
|
0.00002
|
NM_001164508.2(NEB):c.4380C>T (p.Val1460=)
|
rs762099703
|
0.00002
|
NM_001164508.2(NEB):c.4392C>T (p.Gly1464=)
|
rs771527086
|
0.00002
|
NM_001164508.2(NEB):c.4425C>T (p.His1475=)
|
rs371545317
|
0.00002
|
NM_001164508.2(NEB):c.4518G>A (p.Lys1506=)
|
rs1216257726
|
0.00002
|
NM_001164508.2(NEB):c.4528G>A (p.Glu1510Lys)
|
rs370064863
|
0.00002
|
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=)
|
rs748479655
|
0.00002
|
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)
|
rs183333679
|
0.00002
|
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)
|
rs756692621
|
0.00002
|
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His)
|
rs771495234
|
0.00002
|
NM_001164508.2(NEB):c.4953G>A (p.Gln1651=)
|
rs1320404555
|
0.00002
|
NM_001164508.2(NEB):c.5125G>C (p.Glu1709Gln)
|
rs777705062
|
0.00002
|
NM_001164508.2(NEB):c.5157C>T (p.His1719=)
|
rs780224782
|
0.00002
|
NM_001164508.2(NEB):c.5177C>T (p.Thr1726Ile)
|
rs552140238
|
0.00002
|
NM_001164508.2(NEB):c.5205A>G (p.Ala1735=)
|
rs765962317
|
0.00002
|
NM_001164508.2(NEB):c.5325C>T (p.Asn1775=)
|
rs199809548
|
0.00002
|
NM_001164508.2(NEB):c.5656G>A (p.Glu1886Lys)
|
rs746761562
|
0.00002
|
NM_001164508.2(NEB):c.5697C>T (p.Thr1899=)
|
rs761341951
|
0.00002
|
NM_001164508.2(NEB):c.5704A>G (p.Met1902Val)
|
rs746809883
|
0.00002
|
NM_001164508.2(NEB):c.5868T>C (p.Ser1956=)
|
rs374717947
|
0.00002
|
NM_001164508.2(NEB):c.5882G>A (p.Arg1961His)
|
rs767185795
|
0.00002
|
NM_001164508.2(NEB):c.594C>T (p.Asn198=)
|
rs571497125
|
0.00002
|
NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val)
|
rs755853362
|
0.00002
|
NM_001164508.2(NEB):c.6225G>T (p.Met2075Ile)
|
rs760968740
|
0.00002
|
NM_001164508.2(NEB):c.6390C>T (p.Ala2130=)
|
rs974601635
|
0.00002
|
NM_001164508.2(NEB):c.6392A>T (p.Asn2131Ile)
|
rs781202038
|
0.00002
|
NM_001164508.2(NEB):c.6474T>C (p.Asn2158=)
|
rs1191985703
|
0.00002
|
NM_001164508.2(NEB):c.6654T>C (p.Asp2218=)
|
rs771309223
|
0.00002
|
NM_001164508.2(NEB):c.6658A>G (p.Met2220Val)
|
rs200481156
|
0.00002
|
NM_001164508.2(NEB):c.6687A>G (p.Ala2229=)
|
rs747606446
|
0.00002
|
NM_001164508.2(NEB):c.6702+19G>A
|
rs758149842
|
0.00002
|
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu)
|
rs770322824
|
0.00002
|
NM_001164508.2(NEB):c.6825A>T (p.Gly2275=)
|
rs761057549
|
0.00002
|
NM_001164508.2(NEB):c.6893C>T (p.Ala2298Val)
|
rs1280388530
|
0.00002
|
NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp)
|
rs1204576083
|
0.00002
|
NM_001164508.2(NEB):c.7233A>G (p.Leu2411=)
|
rs1023030953
|
0.00002
|
NM_001164508.2(NEB):c.7317G>A (p.Ser2439=)
|
rs199977733
|
0.00002
|
NM_001164508.2(NEB):c.734G>T (p.Gly245Val)
|
rs765569689
|
0.00002
|
NM_001164508.2(NEB):c.762G>A (p.Thr254=)
|
rs770784055
|
0.00002
|
NM_001164508.2(NEB):c.7761G>C (p.Arg2587Ser)
|
rs869312958
|
0.00002
|
NM_001164508.2(NEB):c.7860C>T (p.Ser2620=)
|
rs753267809
|
0.00002
|
NM_001164508.2(NEB):c.7902G>T (p.Leu2634=)
|
rs1213159316
|
0.00002
|
NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln)
|
rs772837483
|
0.00002
|
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=)
|
rs746644593
|
0.00002
|
NM_001164508.2(NEB):c.8328C>T (p.Ala2776=)
|
rs373449008
|
0.00002
|
NM_001164508.2(NEB):c.8556G>A (p.Val2852=)
|
rs368155040
|
0.00002
|
NM_001164508.2(NEB):c.8589C>T (p.Ser2863=)
|
rs560965487
|
0.00002
|
NM_001164508.2(NEB):c.8594T>C (p.Val2865Ala)
|
rs754454398
|
0.00002
|
NM_001164508.2(NEB):c.8685+20A>C
|
rs764128200
|
0.00002
|
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr)
|
rs747466015
|
0.00002
|
NM_001164508.2(NEB):c.8823A>G (p.Lys2941=)
|
rs367619283
|
0.00002
|
NM_001164508.2(NEB):c.8860G>T (p.Ala2954Ser)
|
rs764538619
|
0.00002
|
NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly)
|
rs765940770
|
0.00002
|
NM_001164508.2(NEB):c.8988C>T (p.Tyr2996=)
|
rs1357442601
|
0.00002
|
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)
|
rs1057517977
|
0.00002
|
NM_001164508.2(NEB):c.9125G>A (p.Cys3042Tyr)
|
rs779603526
|
0.00002
|
NM_001164508.2(NEB):c.9133C>T (p.Leu3045Phe)
|
rs533898172
|
0.00002
|
NM_001164508.2(NEB):c.9330T>C (p.Tyr3110=)
|
rs770174001
|
0.00002
|
NM_001164508.2(NEB):c.9480T>C (p.Asp3160=)
|
rs1475280445
|
0.00002
|
NM_001164508.2(NEB):c.9570T>C (p.Asp3190=)
|
rs768613880
|
0.00002
|
NM_001164508.2(NEB):c.9619-20C>T
|
rs778867943
|
0.00002
|
NM_001164508.2(NEB):c.9702G>A (p.Gln3234=)
|
rs1231131080
|
0.00002
|
NM_001164508.2(NEB):c.9795C>T (p.Ile3265=)
|
rs767234865
|
0.00002
|
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys)
|
rs370572955
|
0.00002
|
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr)
|
rs186634689
|
0.00002
|
NM_001164508.2(NEB):c.992C>G (p.Pro331Arg)
|
rs763822076
|
0.00002
|
NM_001164508.2(NEB):c.9939G>C (p.Gln3313His)
|
rs767908602
|
0.00002
|
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys)
|
rs748518353
|
0.00002
|
NM_001164508.2(NEB):c.9972G>A (p.Lys3324=)
|
rs747709979
|
0.00002
|
NM_001271208.2(NEB):c.17276del (p.Gln5759fs)
|
rs1346554177
|
0.00002
|
NM_004543.4(NEB):c.-195C>T
|
rs773435967
|
0.00002
|
NM_001164507.2(NEB):c.21319T>C (p.Tyr7107His)
|
rs1200802961
|
0.00001
|
NM_001164507.2(NEB):c.21327T>G (p.Ala7109=)
|
rs777930884
|
0.00001
|
NM_001164507.2(NEB):c.21339G>A (p.Gln7113=)
|
rs2092597405
|
0.00001
|
NM_001164507.2(NEB):c.21359T>C (p.Leu7120Pro)
|
rs762447469
|
0.00001
|
NM_001164507.2(NEB):c.21363A>G (p.Val7121=)
|
rs202172327
|
0.00001
|
NM_001164507.2(NEB):c.21366C>T (p.Val7122=)
|
rs1159922407
|
0.00001
|
NM_001164507.2(NEB):c.21378A>G (p.Arg7126=)
|
rs1294340060
|
0.00001
|
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met)
|
rs530565802
|
0.00001
|
NM_001164507.2(NEB):c.21399A>G (p.Ala7133=)
|
rs1403704827
|
0.00001
|
NM_001164507.2(NEB):c.21402C>T (p.Gly7134=)
|
rs774372075
|
0.00001
|
NM_001164508.2(NEB):c.*36C>T
|
rs773628949
|
0.00001
|
NM_001164508.2(NEB):c.*95G>A
|
rs2049714734
|
0.00001
|
NM_001164508.2(NEB):c.-167G>T
|
rs886054948
|
0.00001
|
NM_001164508.2(NEB):c.10016T>G (p.Val3339Gly)
|
rs778763661
|
0.00001
|
NM_001164508.2(NEB):c.10020A>G (p.Leu3340=)
|
rs2098551175
|
0.00001
|
NM_001164508.2(NEB):c.10037C>T (p.Thr3346Ile)
|
rs1560628791
|
0.00001
|
NM_001164508.2(NEB):c.10050T>C (p.Asp3350=)
|
rs372803182
|
0.00001
|
NM_001164508.2(NEB):c.10053G>A (p.Val3351=)
|
rs573971577
|
0.00001
|
NM_001164508.2(NEB):c.10093G>A (p.Asp3365Asn)
|
rs1181779285
|
0.00001
|
NM_001164508.2(NEB):c.10112A>G (p.His3371Arg)
|
rs372053480
|
0.00001
|
NM_001164508.2(NEB):c.10144-4C>G
|
rs1362985863
|
0.00001
|
NM_001164508.2(NEB):c.10144-5T>C
|
rs1454334128
|
0.00001
|
NM_001164508.2(NEB):c.10154A>G (p.Lys3385Arg)
|
rs186278440
|
0.00001
|
NM_001164508.2(NEB):c.10166A>G (p.Gln3389Arg)
|
rs2098541776
|
0.00001
|
NM_001164508.2(NEB):c.1019G>A (p.Gly340Asp)
|
rs1228658263
|
0.00001
|
NM_001164508.2(NEB):c.10223A>G (p.Lys3408Arg)
|
rs762891609
|
0.00001
|
NM_001164508.2(NEB):c.10257C>T (p.Tyr3419=)
|
rs745900657
|
0.00001
|
NM_001164508.2(NEB):c.10312G>A (p.Val3438Met)
|
rs746015217
|
0.00001
|
NM_001164508.2(NEB):c.10335C>G (p.Leu3445=)
|
rs188127282
|
0.00001
|
NM_001164508.2(NEB):c.1035+8G>A
|
rs755517435
|
0.00001
|
NM_001164508.2(NEB):c.10382C>A (p.Thr3461Asn)
|
rs1003683269
|
0.00001
|
NM_001164508.2(NEB):c.10420T>C (p.Leu3474=)
|
rs1057523427
|
0.00001
|
NM_001164508.2(NEB):c.10464T>C (p.Arg3488=)
|
rs776681612
|
0.00001
|
NM_001164508.2(NEB):c.10504A>C (p.Arg3502=)
|
rs1288766403
|
0.00001
|
NM_001164508.2(NEB):c.10560T>C (p.Asp3520=)
|
rs368803600
|
0.00001
|
NM_001164508.2(NEB):c.1056T>C (p.Tyr352=)
|
rs1057523282
|
0.00001
|
NM_001164508.2(NEB):c.10623C>T (p.His3541=)
|
rs753863257
|
0.00001
|
NM_001164508.2(NEB):c.10635G>A (p.Lys3545=)
|
rs756424328
|
0.00001
|
NM_001164508.2(NEB):c.10683C>T (p.Tyr3561=)
|
rs2098334069
|
0.00001
|
NM_001164508.2(NEB):c.10776C>T (p.Ser3592=)
|
rs1004404650
|
0.00001
|
NM_001164508.2(NEB):c.10800G>A (p.Leu3600=)
|
rs1189151767
|
0.00001
|
NM_001164508.2(NEB):c.10816C>T (p.Leu3606=)
|
rs1188058379
|
0.00001
|
NM_001164508.2(NEB):c.10846C>T (p.Arg3616Trp)
|
rs573036942
|
0.00001
|
NM_001164508.2(NEB):c.10856A>G (p.Tyr3619Cys)
|
rs1049205301
|
0.00001
|
NM_001164508.2(NEB):c.1086T>C (p.Asn362=)
|
rs780565107
|
0.00001
|
NM_001164508.2(NEB):c.10899G>A (p.Trp3633Ter)
|
rs780343350
|
0.00001
|
NM_001164508.2(NEB):c.10910T>C (p.Ile3637Thr)
|
rs2098276722
|
0.00001
|
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu)
|
rs377027708
|
0.00001
|
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala)
|
rs1316575607
|
0.00001
|
NM_001164508.2(NEB):c.10962A>G (p.Gly3654=)
|
rs2098275422
|
0.00001
|
NM_001164508.2(NEB):c.10992G>C (p.Gln3664His)
|
rs1386975124
|
0.00001
|
NM_001164508.2(NEB):c.10993C>T (p.Arg3665Cys)
|
rs766254214
|
0.00001
|
NM_001164508.2(NEB):c.11023A>G (p.Thr3675Ala)
|
rs771318349
|
0.00001
|
NM_001164508.2(NEB):c.11037G>A (p.Glu3679=)
|
rs886054942
|
0.00001
|
NM_001164508.2(NEB):c.11049A>G (p.Ala3683=)
|
rs1373692135
|
0.00001
|
NM_001164508.2(NEB):c.11076+1G>A
|
rs1460365350
|
0.00001
|
NM_001164508.2(NEB):c.11077-4G>A
|
rs878924060
|
0.00001
|
NM_001164508.2(NEB):c.11124C>T (p.Val3708=)
|
rs1381890849
|
0.00001
|
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=)
|
rs547109690
|
0.00001
|
NM_001164508.2(NEB):c.11163C>T (p.Asn3721=)
|
rs1387561363
|
0.00001
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln)
|
rs757027644
|
0.00001
|
NM_001164508.2(NEB):c.1117A>G (p.Arg373Gly)
|
rs778295273
|
0.00001
|
NM_001164508.2(NEB):c.11181+10_11181+11del
|
rs779015676
|
0.00001
|
NM_001164508.2(NEB):c.11181+3A>G
|
rs1448725511
|
0.00001
|
NM_001164508.2(NEB):c.1123C>T (p.Leu375=)
|
rs561542607
|
0.00001
|
NM_001164508.2(NEB):c.11280T>A (p.Ile3760=)
|
rs1203256202
|
0.00001
|
NM_001164508.2(NEB):c.11300A>G (p.Lys3767Arg)
|
rs761139484
|
0.00001
|
NM_001164508.2(NEB):c.11325C>T (p.Gly3775=)
|
rs1451219883
|
0.00001
|
NM_001164508.2(NEB):c.11394C>T (p.Ile3798=)
|
rs756403694
|
0.00001
|
NM_001164508.2(NEB):c.1140T>C (p.Asp380=)
|
rs752553797
|
0.00001
|
NM_001164508.2(NEB):c.11421G>A (p.Glu3807=)
|
rs1579378827
|
0.00001
|
NM_001164508.2(NEB):c.11427G>A (p.Glu3809=)
|
rs762463190
|
0.00001
|
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg)
|
rs562419268
|
0.00001
|
NM_001164508.2(NEB):c.11439C>A (p.Thr3813=)
|
rs761510669
|
0.00001
|
NM_001164508.2(NEB):c.11460C>T (p.Asp3820=)
|
rs1331418124
|
0.00001
|
NM_001164508.2(NEB):c.11475G>A (p.Val3825=)
|
rs1489721073
|
0.00001
|
NM_001164508.2(NEB):c.114G>A (p.Arg38=)
|
rs1578040445
|
0.00001
|
NM_001164508.2(NEB):c.11506G>A (p.Asp3836Asn)
|
rs758723038
|
0.00001
|
NM_001164508.2(NEB):c.11506G>T (p.Asp3836Tyr)
|
rs758723038
|
0.00001
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
NM_001164508.2(NEB):c.1153-2A>G
|
rs1553609515
|
0.00001
|
NM_001164508.2(NEB):c.11533G>C (p.Glu3845Gln)
|
rs755390933
|
0.00001
|
NM_001164508.2(NEB):c.11541C>T (p.Thr3847=)
|
rs758901873
|
0.00001
|
NM_001164508.2(NEB):c.11582C>T (p.Ala3861Val)
|
rs773465698
|
0.00001
|
NM_001164508.2(NEB):c.11589C>T (p.Asp3863=)
|
rs372772607
|
0.00001
|
NM_001164508.2(NEB):c.11670C>T (p.Val3890=)
|
rs757703477
|
0.00001
|
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter)
|
rs377182240
|
0.00001
|
NM_001164508.2(NEB):c.11762C>T (p.Pro3921Leu)
|
rs371675358
|
0.00001
|
NM_001164508.2(NEB):c.11773C>T (p.Leu3925=)
|
rs1227597329
|
0.00001
|
NM_001164508.2(NEB):c.11777C>G (p.Ala3926Gly)
|
rs754671742
|
0.00001
|
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr)
|
rs772235127
|
0.00001
|
NM_001164508.2(NEB):c.11806-20C>T
|
rs367755249
|
0.00001
|
NM_001164508.2(NEB):c.11828A>G (p.Asp3943Gly)
|
rs371102558
|
0.00001
|
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe)
|
rs757175445
|
0.00001
|
NM_001164508.2(NEB):c.11862C>T (p.Asp3954=)
|
rs1027329418
|
0.00001
|
NM_001164508.2(NEB):c.11883C>T (p.Ala3961=)
|
rs1227394030
|
0.00001
|
NM_001164508.2(NEB):c.11884A>C (p.Lys3962Gln)
|
rs1194302071
|
0.00001
|
NM_001164508.2(NEB):c.11893T>G (p.Ser3965Ala)
|
rs1397887930
|
0.00001
|
NM_001164508.2(NEB):c.11922C>T (p.Thr3974=)
|
rs1196381872
|
0.00001
|
NM_001164508.2(NEB):c.11946G>A (p.Met3982Ile)
|
rs2097912146
|
0.00001
|
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys)
|
rs745504838
|
0.00001
|
NM_001164508.2(NEB):c.11974A>G (p.Ile3992Val)
|
rs1465332264
|
0.00001
|
NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met)
|
rs780157705
|
0.00001
|
NM_001164508.2(NEB):c.11988T>A (p.Ser3996Arg)
|
rs1377623180
|
0.00001
|
NM_001164508.2(NEB):c.12005A>C (p.Asp4002Ala)
|
rs1457058013
|
0.00001
|
NM_001164508.2(NEB):c.12018+7A>C
|
rs372905711
|
0.00001
|
NM_001164508.2(NEB):c.12045A>G (p.Lys4015=)
|
rs949086164
|
0.00001
|
NM_001164508.2(NEB):c.12132A>G (p.Glu4044=)
|
rs1430100852
|
0.00001
|
NM_001164508.2(NEB):c.12141C>T (p.Tyr4047=)
|
rs2097888256
|
0.00001
|
NM_001164508.2(NEB):c.12171G>T (p.Lys4057Asn)
|
rs747847680
|
0.00001
|
NM_001164508.2(NEB):c.12176C>G (p.Ser4059Cys)
|
rs1475951452
|
0.00001
|
NM_001164508.2(NEB):c.12192G>A (p.Met4064Ile)
|
rs776639447
|
0.00001
|
NM_001164508.2(NEB):c.1221C>G (p.Phe407Leu)
|
rs1033938609
|
0.00001
|
NM_001164508.2(NEB):c.12234T>A (p.Thr4078=)
|
rs752937326
|
0.00001
|
NM_001164508.2(NEB):c.12239T>C (p.Ile4080Thr)
|
rs557283717
|
0.00001
|
NM_001164508.2(NEB):c.12246T>C (p.Tyr4082=)
|
rs892559887
|
0.00001
|
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe)
|
rs373883986
|
0.00001
|
NM_001164508.2(NEB):c.12264A>G (p.Glu4088=)
|
rs775530422
|
0.00001
|
NM_001164508.2(NEB):c.12270A>G (p.Thr4090=)
|
rs1247368291
|
0.00001
|
NM_001164508.2(NEB):c.1227C>T (p.Leu409=)
|
rs371658494
|
0.00001
|
NM_001164508.2(NEB):c.12300A>G (p.Gln4100=)
|
rs757913260
|
0.00001
|
NM_001164508.2(NEB):c.12303A>C (p.Ala4101=)
|
rs1553882764
|
0.00001
|
NM_001164508.2(NEB):c.12318C>T (p.Asp4106=)
|
rs1209799302
|
0.00001
|
NM_001164508.2(NEB):c.12330+2T>C
|
rs1374971806
|
0.00001
|
NM_001164508.2(NEB):c.1248C>T (p.Phe416=)
|
rs1576714550
|
0.00001
|
NM_001164508.2(NEB):c.1257+7A>G
|
rs756217803
|
0.00001
|
NM_001164508.2(NEB):c.12579C>T (p.Thr4193=)
|
rs1384049532
|
0.00001
|
NM_001164508.2(NEB):c.1257T>G (p.Asp419Glu)
|
rs549485763
|
0.00001
|
NM_001164508.2(NEB):c.1258-2A>G
|
rs1553608621
|
0.00001
|
NM_001164508.2(NEB):c.1258-9G>T
|
rs779907080
|
0.00001
|
NM_001164508.2(NEB):c.12639+2dup
|
rs2097758186
|
0.00001
|
NM_001164508.2(NEB):c.1263A>G (p.Lys421=)
|
rs371099860
|
0.00001
|
NM_001164508.2(NEB):c.12640-10C>T
|
rs1264692800
|
0.00001
|
NM_001164508.2(NEB):c.1275C>T (p.Ser425=)
|
rs1197676558
|
0.00001
|
NM_001164508.2(NEB):c.129G>A (p.Glu43=)
|
rs1290183134
|
0.00001
|
NM_001164508.2(NEB):c.1305A>G (p.Val435=)
|
rs564509638
|
0.00001
|
NM_001164508.2(NEB):c.13060-6A>G
|
rs1195747738
|
0.00001
|
NM_001164508.2(NEB):c.1312T>G (p.Phe438Val)
|
rs959840049
|
0.00001
|
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)
|
rs1490309743
|
0.00001
|
NM_001164508.2(NEB):c.13132A>G (p.Arg4378Gly)
|
rs1189557869
|
0.00001
|
NM_001164508.2(NEB):c.1317G>A (p.Glu439=)
|
rs776261033
|
0.00001
|
NM_001164508.2(NEB):c.13251A>C (p.Val4417=)
|
rs1246456851
|
0.00001
|
NM_001164508.2(NEB):c.1365+2T>C
|
rs770797137
|
0.00001
|
NM_001164508.2(NEB):c.1365+5G>T
|
rs1553607969
|
0.00001
|
NM_001164508.2(NEB):c.1366A>G (p.Lys456Glu)
|
rs1484438248
|
0.00001
|
NM_001164508.2(NEB):c.1374C>T (p.Tyr458=)
|
rs1362599473
|
0.00001
|
NM_001164508.2(NEB):c.1395C>T (p.Asp465=)
|
rs759268469
|
0.00001
|
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val)
|
rs772070576
|
0.00001
|
NM_001164508.2(NEB):c.1431A>G (p.Gln477=)
|
rs372236577
|
0.00001
|
NM_001164508.2(NEB):c.1452A>G (p.Lys484=)
|
rs2099602673
|
0.00001
|
NM_001164508.2(NEB):c.1470+1G>A
|
rs1220787593
|
0.00001
|
NM_001164508.2(NEB):c.1470+2dup
|
rs1477702016
|
0.00001
|
NM_001164508.2(NEB):c.1470C>T (p.Asp490=)
|
rs778189876
|
0.00001
|
NM_001164508.2(NEB):c.1471-7C>T
|
rs985833868
|
0.00001
|
NM_001164508.2(NEB):c.1478A>G (p.Tyr493Cys)
|
rs1576674181
|
0.00001
|
NM_001164508.2(NEB):c.1479C>T (p.Tyr493=)
|
rs2099599226
|
0.00001
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
NM_001164508.2(NEB):c.1524T>C (p.Ser508=)
|
rs1032729675
|
0.00001
|
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe)
|
rs749473348
|
0.00001
|
NM_001164508.2(NEB):c.1561C>A (p.Leu521Met)
|
rs750023832
|
0.00001
|
NM_001164508.2(NEB):c.1563G>A (p.Leu521=)
|
rs765045777
|
0.00001
|
NM_001164508.2(NEB):c.1569+9C>T
|
rs764085607
|
0.00001
|
NM_001164508.2(NEB):c.1570-18G>A
|
rs1276051107
|
0.00001
|
NM_001164508.2(NEB):c.1570-2del
|
rs2099590816
|
0.00001
|
NM_001164508.2(NEB):c.1613A>G (p.His538Arg)
|
rs925195870
|
0.00001
|
NM_001164508.2(NEB):c.1614T>C (p.His538=)
|
rs769074908
|
0.00001
|
NM_001164508.2(NEB):c.1617C>T (p.Ile539=)
|
rs747500560
|
0.00001
|
NM_001164508.2(NEB):c.1620C>T (p.Pro540=)
|
rs776014034
|
0.00001
|
NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala)
|
rs1324280943
|
0.00001
|
NM_001164508.2(NEB):c.1648A>G (p.Lys550Glu)
|
rs756920047
|
0.00001
|
NM_001164508.2(NEB):c.1649_1651del (p.Lys550_Val551delinsIle)
|
rs746163908
|
0.00001
|
NM_001164508.2(NEB):c.1674+17C>T
|
rs764386144
|
0.00001
|
NM_001164508.2(NEB):c.1674+1G>T
|
rs750585238
|
0.00001
|
NM_001164508.2(NEB):c.1675-10T>C
|
rs751475228
|
0.00001
|
NM_001164508.2(NEB):c.1675-13T>A
|
rs780833404
|
0.00001
|
NM_001164508.2(NEB):c.16750A>G (p.Met5584Val)
|
rs761807814
|
0.00001
|
NM_001164508.2(NEB):c.16760G>A (p.Gly5587Glu)
|
rs1243813979
|
0.00001
|
NM_001164508.2(NEB):c.16800C>A (p.Ile5600=)
|
rs756461553
|
0.00001
|
NM_001164508.2(NEB):c.16814T>C (p.Val5605Ala)
|
rs527672223
|
0.00001
|
NM_001164508.2(NEB):c.16815C>G (p.Val5605=)
|
rs781623818
|
0.00001
|
NM_001164508.2(NEB):c.16824G>C (p.Thr5608=)
|
rs531949723
|
0.00001
|
NM_001164508.2(NEB):c.168A>T (p.Ala56=)
|
rs200297299
|
0.00001
|
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr)
|
rs763012000
|
0.00001
|
NM_001164508.2(NEB):c.16967C>T (p.Thr5656Ile)
|
rs1353681047
|
0.00001
|
NM_001164508.2(NEB):c.1698G>A (p.Glu566=)
|
rs1242070276
|
0.00001
|
NM_001164508.2(NEB):c.17013+13A>G
|
rs547891086
|
0.00001
|
NM_001164508.2(NEB):c.17013+20C>T
|
rs1450483092
|
0.00001
|
NM_001164508.2(NEB):c.17013+3A>G
|
rs200059848
|
0.00001
|
NM_001164508.2(NEB):c.17014-8C>T
|
rs1056538048
|
0.00001
|
NM_001164508.2(NEB):c.17080A>G (p.Ile5694Val)
|
rs1287787210
|
0.00001
|
NM_001164508.2(NEB):c.17114G>A (p.Ser5705Asn)
|
rs1179251845
|
0.00001
|
NM_001164508.2(NEB):c.17118+1G>A
|
rs747946275
|
0.00001
|
NM_001164508.2(NEB):c.17127T>C (p.Tyr5709=)
|
rs775004844
|
0.00001
|
NM_001164508.2(NEB):c.17156A>T (p.His5719Leu)
|
rs776095941
|
0.00001
|
NM_001164508.2(NEB):c.1718T>C (p.Phe573Ser)
|
rs767710795
|
0.00001
|
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys)
|
rs1000108046
|
0.00001
|
NM_001164508.2(NEB):c.17208C>T (p.Leu5736=)
|
rs1296709078
|
0.00001
|
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln)
|
rs773983252
|
0.00001
|
NM_001164508.2(NEB):c.17247G>C (p.Leu5749=)
|
rs564752449
|
0.00001
|
NM_001164508.2(NEB):c.17301C>A (p.Ile5767=)
|
rs1310753005
|
0.00001
|
NM_001164508.2(NEB):c.17347C>T (p.Arg5783Cys)
|
rs1037281077
|
0.00001
|
NM_001164508.2(NEB):c.1736C>T (p.Ala579Val)
|
rs2099581961
|
0.00001
|
NM_001164508.2(NEB):c.17372G>A (p.Cys5791Tyr)
|
rs780600292
|
0.00001
|
NM_001164508.2(NEB):c.17416G>A (p.Glu5806Lys)
|
rs748311158
|
0.00001
|
NM_001164508.2(NEB):c.17427C>T (p.Ser5809=)
|
rs781105258
|
0.00001
|
NM_001164508.2(NEB):c.17478G>A (p.Met5826Ile)
|
rs1298196178
|
0.00001
|
NM_001164508.2(NEB):c.17490C>T (p.Ser5830=)
|
rs1290585048
|
0.00001
|
NM_001164508.2(NEB):c.17508C>G (p.Ala5836=)
|
rs778186568
|
0.00001
|
NM_001164508.2(NEB):c.17536-17T>C
|
rs775687645
|
0.00001
|
NM_001164508.2(NEB):c.17545C>T (p.Arg5849Cys)
|
rs771214344
|
0.00001
|
NM_001164508.2(NEB):c.17573C>T (p.Thr5858Met)
|
rs747699601
|
0.00001
|
NM_001164508.2(NEB):c.17599G>A (p.Val5867Met)
|
rs1452637927
|
0.00001
|
NM_001164508.2(NEB):c.17606C>T (p.Ala5869Val)
|
rs79205344
|
0.00001
|
NM_001164508.2(NEB):c.17607G>A (p.Ala5869=)
|
rs761813976
|
0.00001
|
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp)
|
rs769673154
|
0.00001
|
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln)
|
rs558345996
|
0.00001
|
NM_001164508.2(NEB):c.17685A>C (p.Thr5895=)
|
rs372024982
|
0.00001
|
NM_001164508.2(NEB):c.17728C>T (p.Leu5910=)
|
rs756046096
|
0.00001
|
NM_001164508.2(NEB):c.17742C>T (p.Leu5914=)
|
rs1157260383
|
0.00001
|
NM_001164508.2(NEB):c.1777A>G (p.Ser593Gly)
|
rs200951652
|
0.00001
|
NM_001164508.2(NEB):c.17844+5T>C
|
rs748989842
|
0.00001
|
NM_001164508.2(NEB):c.17871G>A (p.Lys5957=)
|
rs1210227956
|
0.00001
|
NM_001164508.2(NEB):c.17880T>A (p.Gly5960=)
|
rs776382772
|
0.00001
|
NM_001164508.2(NEB):c.17901G>A (p.Thr5967=)
|
rs573047672
|
0.00001
|
NM_001164508.2(NEB):c.17913T>A (p.Asp5971Glu)
|
rs1167894918
|
0.00001
|
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn)
|
rs752928207
|
0.00001
|
NM_001164508.2(NEB):c.17979T>C (p.Tyr5993=)
|
rs1221781863
|
0.00001
|
NM_001164508.2(NEB):c.18003T>C (p.Asn6001=)
|
rs1428223666
|
0.00001
|
NM_001164508.2(NEB):c.18039G>A (p.Lys6013=)
|
rs749434786
|
0.00001
|
NM_001164508.2(NEB):c.1803T>C (p.Tyr601=)
|
rs775413813
|
0.00001
|
NM_001164508.2(NEB):c.18073C>T (p.Arg6025Cys)
|
rs765174060
|
0.00001
|
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser)
|
rs1221212842
|
0.00001
|
NM_001164508.2(NEB):c.18087C>T (p.His6029=)
|
rs758797066
|
0.00001
|
NM_001164508.2(NEB):c.180A>C (p.Pro60=)
|
rs1247519619
|
0.00001
|
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=)
|
rs1319860549
|
0.00001
|
NM_001164508.2(NEB):c.18165C>T (p.Tyr6055=)
|
rs746376570
|
0.00001
|
NM_001164508.2(NEB):c.18168A>G (p.Arg6056=)
|
rs756829657
|
0.00001
|
NM_001164508.2(NEB):c.18177G>A (p.Leu6059=)
|
rs191083610
|
0.00001
|
NM_001164508.2(NEB):c.18216T>C (p.Ser6072=)
|
rs766403385
|
0.00001
|
NM_001164508.2(NEB):c.18225T>C (p.His6075=)
|
rs2096342918
|
0.00001
|
NM_001164508.2(NEB):c.18262-4A>C
|
rs2096326829
|
0.00001
|
NM_001164508.2(NEB):c.1826T>C (p.Ile609Thr)
|
rs748239538
|
0.00001
|
NM_001164508.2(NEB):c.1828G>A (p.Gly610Arg)
|
rs1166853973
|
0.00001
|
NM_001164508.2(NEB):c.18295C>T (p.Pro6099Ser)
|
rs1269081768
|
0.00001
|
NM_001164508.2(NEB):c.18330T>G (p.Ile6110Met)
|
rs2096323080
|
0.00001
|
NM_001164508.2(NEB):c.18366+15T>G
|
rs377385674
|
0.00001
|
NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=)
|
rs1300207920
|
0.00001
|
NM_001164508.2(NEB):c.18384A>G (p.Thr6128=)
|
rs1292894553
|
0.00001
|
NM_001164508.2(NEB):c.1839C>T (p.Ser613=)
|
rs751976783
|
0.00001
|
NM_001164508.2(NEB):c.18425C>T (p.Thr6142Ile)
|
rs377179553
|
0.00001
|
NM_001164508.2(NEB):c.18439C>T (p.His6147Tyr)
|
rs1577779523
|
0.00001
|
NM_001164508.2(NEB):c.18472-4C>G
|
rs756954250
|
0.00001
|
NM_001164508.2(NEB):c.1848C>T (p.Asp616=)
|
rs530242068
|
0.00001
|
NM_001164508.2(NEB):c.18504G>A (p.Lys6168=)
|
rs766623941
|
0.00001
|
NM_001164508.2(NEB):c.18510T>C (p.Tyr6170=)
|
rs1175502882
|
0.00001
|
NM_001164508.2(NEB):c.18531C>T (p.Arg6177=)
|
rs541088387
|
0.00001
|
NM_001164508.2(NEB):c.18542T>C (p.Ile6181Thr)
|
rs764500250
|
0.00001
|
NM_001164508.2(NEB):c.18543T>C (p.Ile6181=)
|
rs1358467857
|
0.00001
|
NM_001164508.2(NEB):c.1854C>T (p.Pro618=)
|
rs1469092630
|
0.00001
|
NM_001164508.2(NEB):c.18561T>C (p.Ala6187=)
|
rs374949827
|
0.00001
|
NM_001164508.2(NEB):c.18568G>A (p.Val6190Met)
|
rs770824743
|
0.00001
|
NM_001164508.2(NEB):c.18580-8C>T
|
rs199894970
|
0.00001
|
NM_001164508.2(NEB):c.18588C>T (p.Tyr6196=)
|
rs774109260
|
0.00001
|
NM_001164508.2(NEB):c.18590A>G (p.Lys6197Arg)
|
rs770466680
|
0.00001
|
NM_001164508.2(NEB):c.185C>T (p.Ser62Leu)
|
rs764417105
|
0.00001
|
NM_001164508.2(NEB):c.18613G>A (p.Gly6205Ser)
|
rs1292580496
|
0.00001
|
NM_001164508.2(NEB):c.18639C>T (p.Ile6213=)
|
rs534845823
|
0.00001
|
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)
|
rs1475648900
|
0.00001
|
NM_001164508.2(NEB):c.18709C>G (p.His6237Asp)
|
rs750141196
|
0.00001
|
NM_001164508.2(NEB):c.18738T>C (p.His6246=)
|
rs1048795026
|
0.00001
|
NM_001164508.2(NEB):c.18762C>T (p.His6254=)
|
rs748339284
|
0.00001
|
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met)
|
rs781706876
|
0.00001
|
NM_001164508.2(NEB):c.18768G>C (p.Leu6256=)
|
rs2096147822
|
0.00001
|
NM_001164508.2(NEB):c.18771T>G (p.Ala6257=)
|
rs755307254
|
0.00001
|
NM_001164508.2(NEB):c.18811C>T (p.His6271Tyr)
|
rs932662350
|
0.00001
|
NM_001164508.2(NEB):c.18831G>A (p.Thr6277=)
|
rs368876425
|
0.00001
|
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)
|
rs539819851
|
0.00001
|
NM_001164508.2(NEB):c.1887C>T (p.Asn629=)
|
rs748246603
|
0.00001
|
NM_001164508.2(NEB):c.18891+1G>A
|
rs1443738549
|
0.00001
|
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn)
|
rs766403303
|
0.00001
|
NM_001164508.2(NEB):c.18942T>C (p.Val6314=)
|
rs758600708
|
0.00001
|
NM_001164508.2(NEB):c.18996+10C>G
|
rs772798498
|
0.00001
|
NM_001164508.2(NEB):c.18997-9T>C
|
rs1377432083
|
0.00001
|
NM_001164508.2(NEB):c.19012G>A (p.Ala6338Thr)
|
rs759946299
|
0.00001
|
NM_001164508.2(NEB):c.1902A>G (p.Leu634=)
|
rs1284395966
|
0.00001
|
NM_001164508.2(NEB):c.19053C>T (p.Asp6351=)
|
rs1201126048
|
0.00001
|
NM_001164508.2(NEB):c.1908G>A (p.Lys636=)
|
rs780303181
|
0.00001
|
NM_001164508.2(NEB):c.19101+5G>A
|
rs374929094
|
0.00001
|
NM_001164508.2(NEB):c.19102-8G>A
|
rs768233572
|
0.00001
|
NM_001164508.2(NEB):c.19113A>G (p.Lys6371=)
|
rs1416844553
|
0.00001
|
NM_001164508.2(NEB):c.19200C>T (p.Tyr6400=)
|
rs762251090
|
0.00001
|
NM_001164508.2(NEB):c.19239A>G (p.Lys6413=)
|
rs1430888861
|
0.00001
|
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=)
|
rs773178453
|
0.00001
|
NM_001164508.2(NEB):c.192G>A (p.Lys64=)
|
rs761189437
|
0.00001
|
NM_001164508.2(NEB):c.19313A>G (p.His6438Arg)
|
rs1015281617
|
0.00001
|
NM_001164508.2(NEB):c.19317C>T (p.Ile6439=)
|
rs754491465
|
0.00001
|
NM_001164508.2(NEB):c.19324C>T (p.Arg6442Trp)
|
rs746394316
|
0.00001
|
NM_001164508.2(NEB):c.19363C>T (p.Pro6455Ser)
|
rs377112785
|
0.00001
|
NM_001164508.2(NEB):c.19372G>C (p.Val6458Leu)
|
rs774608228
|
0.00001
|
NM_001164508.2(NEB):c.19389C>T (p.Asn6463=)
|
rs375040433
|
0.00001
|
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)
|
rs1553740233
|
0.00001
|
NM_001164508.2(NEB):c.19425C>T (p.Ile6475=)
|
rs760688816
|
0.00001
|
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn)
|
rs752626000
|
0.00001
|
NM_001164508.2(NEB):c.19428+9G>A
|
rs770023245
|
0.00001
|
NM_001164508.2(NEB):c.19429-5T>C
|
rs758585933
|
0.00001
|
NM_001164508.2(NEB):c.1942A>T (p.Asn648Tyr)
|
rs1553592578
|
0.00001
|
NM_001164508.2(NEB):c.19449T>C (p.Tyr6483=)
|
rs2095483992
|
0.00001
|
NM_001164508.2(NEB):c.1947C>T (p.Tyr649=)
|
rs1476481410
|
0.00001
|
NM_001164508.2(NEB):c.19486A>G (p.Met6496Val)
|
rs1354087086
|
0.00001
|
NM_001164508.2(NEB):c.19558G>A (p.Glu6520Lys)
|
rs753229810
|
0.00001
|
NM_001164508.2(NEB):c.19572C>T (p.His6524=)
|
rs367646560
|
0.00001
|
NM_001164508.2(NEB):c.19575C>T (p.Pro6525=)
|
rs1361349634
|
0.00001
|
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser)
|
rs759215923
|
0.00001
|
NM_001164508.2(NEB):c.19597G>A (p.Val6533Ile)
|
rs368484176
|
0.00001
|
NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val)
|
rs747034126
|
0.00001
|
NM_001164508.2(NEB):c.19624G>A (p.Asp6542Asn)
|
rs757407447
|
0.00001
|
NM_001164508.2(NEB):c.19626+9G>T
|
rs1293079263
|
0.00001
|
NM_001164508.2(NEB):c.19627-8C>T
|
rs1381633722
|
0.00001
|
NM_001164508.2(NEB):c.19628T>C (p.Ile6543Thr)
|
rs756123091
|
0.00001
|
NM_001164508.2(NEB):c.1962A>G (p.Lys654=)
|
rs373858974
|
0.00001
|
NM_001164508.2(NEB):c.19732-5G>A
|
rs779841022
|
0.00001
|
NM_001164508.2(NEB):c.19796T>C (p.Val6599Ala)
|
rs1238663844
|
0.00001
|
NM_001164508.2(NEB):c.19800C>T (p.Tyr6600=)
|
rs552379239
|
0.00001
|
NM_001164508.2(NEB):c.19809T>C (p.Ala6603=)
|
rs1011284732
|
0.00001
|
NM_001164508.2(NEB):c.19837-12T>C
|
rs577874679
|
0.00001
|
NM_001164508.2(NEB):c.19856A>G (p.Tyr6619Cys)
|
rs1367421575
|
0.00001
|
NM_001164508.2(NEB):c.19860G>A (p.Val6620=)
|
rs754635980
|
0.00001
|
NM_001164508.2(NEB):c.19894A>G (p.Lys6632Glu)
|
rs765189771
|
0.00001
|
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn)
|
rs534519331
|
0.00001
|
NM_001164508.2(NEB):c.19939A>G (p.Ser6647Gly)
|
rs1559830688
|
0.00001
|
NM_001164508.2(NEB):c.19940G>T (p.Ser6647Ile)
|
rs2095355799
|
0.00001
|
NM_001164508.2(NEB):c.19944+7A>G
|
rs201751179
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.19958C>A (p.Thr6653Asn)
|
rs1379492488
|
0.00001
|
NM_001164508.2(NEB):c.19959C>T (p.Thr6653=)
|
rs758068690
|
0.00001
|
NM_001164508.2(NEB):c.19965G>A (p.Leu6655=)
|
rs1312715025
|
0.00001
|
NM_001164508.2(NEB):c.19967G>A (p.Arg6656His)
|
rs767200761
|
0.00001
|
NM_001164508.2(NEB):c.19971C>G (p.Thr6657=)
|
rs1387509005
|
0.00001
|
NM_001164508.2(NEB):c.19974G>A (p.Leu6658=)
|
rs1247188728
|
0.00001
|
NM_001164508.2(NEB):c.1998+15G>A
|
rs62174730
|
0.00001
|
NM_001164508.2(NEB):c.1998+19A>G
|
rs771280301
|
0.00001
|
NM_001164508.2(NEB):c.1998+4C>A
|
rs763334937
|
0.00001
|
NM_001164508.2(NEB):c.1998+5G>A
|
rs1015618560
|
0.00001
|
NM_001164508.2(NEB):c.1999-10T>C
|
rs2099556454
|
0.00001
|
NM_001164508.2(NEB):c.19998T>C (p.Gly6666=)
|
rs766522842
|
0.00001
|
NM_001164508.2(NEB):c.1999G>A (p.Ala667Thr)
|
rs750186349
|
0.00001
|
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His)
|
rs1487589344
|
0.00001
|
NM_001164508.2(NEB):c.20040G>C (p.Met6680Ile)
|
rs368883773
|
0.00001
|
NM_001164508.2(NEB):c.20052C>A (p.Phe6684Leu)
|
rs750704829
|
0.00001
|
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg)
|
rs201071685
|
0.00001
|
NM_001164508.2(NEB):c.20122G>T (p.Val6708Phe)
|
rs1312710050
|
0.00001
|
NM_001164508.2(NEB):c.20150C>T (p.Thr6717Ile)
|
rs753992038
|
0.00001
|
NM_001164508.2(NEB):c.20151C>T (p.Thr6717=)
|
rs764509356
|
0.00001
|
NM_001164508.2(NEB):c.20155G>A (p.Glu6719Lys)
|
rs767886794
|
0.00001
|
NM_001164508.2(NEB):c.2015T>C (p.Leu672Ser)
|
rs765225625
|
0.00001
|
NM_001164508.2(NEB):c.20218C>A (p.Pro6740Thr)
|
rs199722285
|
0.00001
|
NM_001164508.2(NEB):c.20230C>A (p.Gln6744Lys)
|
rs766890449
|
0.00001
|
NM_001164508.2(NEB):c.20258G>A (p.Ser6753Asn)
|
rs2094881047
|
0.00001
|
NM_001164508.2(NEB):c.2025G>A (p.Lys675=)
|
rs1329950628
|
0.00001
|
NM_001164508.2(NEB):c.20268C>A (p.Ile6756=)
|
rs1433355738
|
0.00001
|
NM_001164508.2(NEB):c.20290A>G (p.Met6764Val)
|
rs372042301
|
0.00001
|
NM_001164508.2(NEB):c.20298C>G (p.Gly6766=)
|
rs747134879
|
0.00001
|
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val)
|
rs753409626
|
0.00001
|
NM_001164508.2(NEB):c.20360C>T (p.Thr6787Ile)
|
rs370099071
|
0.00001
|
NM_001164508.2(NEB):c.20371A>G (p.Lys6791Glu)
|
rs758370711
|
0.00001
|
NM_001164508.2(NEB):c.2037A>G (p.Gly679=)
|
rs770276905
|
0.00001
|
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys)
|
rs1014627144
|
0.00001
|
NM_001164508.2(NEB):c.20430T>C (p.Pro6810=)
|
rs373276952
|
0.00001
|
NM_001164508.2(NEB):c.20437G>A (p.Val6813Ile)
|
rs951646007
|
0.00001
|
NM_001164508.2(NEB):c.20467-20T>G
|
rs1323641166
|
0.00001
|
NM_001164508.2(NEB):c.20503C>T (p.Arg6835Ter)
|
rs370098540
|
0.00001
|
NM_001164508.2(NEB):c.20504G>A (p.Arg6835Gln)
|
rs201001168
|
0.00001
|
NM_001164508.2(NEB):c.20508C>T (p.Asp6836=)
|
rs2094611028
|
0.00001
|
NM_001164508.2(NEB):c.2053A>G (p.Met685Val)
|
rs370986655
|
0.00001
|
NM_001164508.2(NEB):c.20577+2T>C
|
rs1185654671
|
0.00001
|
NM_001164508.2(NEB):c.20577+9G>A
|
rs754392310
|
0.00001
|
NM_001164508.2(NEB):c.20578-9T>C
|
rs2094070540
|
0.00001
|
NM_001164508.2(NEB):c.20616C>A (p.Ile6872=)
|
rs563768825
|
0.00001
|
NM_001164508.2(NEB):c.20640T>G (p.Pro6880=)
|
rs748105415
|
0.00001
|
NM_001164508.2(NEB):c.20712G>A (p.Glu6904=)
|
rs755542829
|
0.00001
|
NM_001164508.2(NEB):c.20727C>T (p.His6909=)
|
rs779779886
|
0.00001
|
NM_001164508.2(NEB):c.20736C>T (p.Asn6912=)
|
rs1384813528
|
0.00001
|
NM_001164508.2(NEB):c.20745A>T (p.Thr6915=)
|
rs931241996
|
0.00001
|
NM_001164508.2(NEB):c.20767G>A (p.Val6923Met)
|
rs753673376
|
0.00001
|
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr)
|
rs763737123
|
0.00001
|
NM_001164508.2(NEB):c.20787+2T>C
|
rs1337287633
|
0.00001
|
NM_001164508.2(NEB):c.20831C>T (p.Thr6944Ile)
|
rs763942330
|
0.00001
|
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met)
|
rs767461697
|
0.00001
|
NM_001164508.2(NEB):c.20883T>C (p.Asn6961=)
|
rs576660293
|
0.00001
|
NM_001164508.2(NEB):c.20893-4C>T
|
rs755711568
|
0.00001
|
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His)
|
rs767230683
|
0.00001
|
NM_001164508.2(NEB):c.2089G>T (p.Ala697Ser)
|
rs1317564549
|
0.00001
|
NM_001164508.2(NEB):c.20925A>G (p.Lys6975=)
|
rs2093498757
|
0.00001
|
NM_001164508.2(NEB):c.20939C>T (p.Thr6980Met)
|
rs776806977
|
0.00001
|
NM_001164508.2(NEB):c.20955A>T (p.Leu6985=)
|
rs774687489
|
0.00001
|
NM_001164508.2(NEB):c.20958C>T (p.Asp6986=)
|
rs748770036
|
0.00001
|
NM_001164508.2(NEB):c.20971C>T (p.Arg6991Cys)
|
rs901568718
|
0.00001
|
NM_001164508.2(NEB):c.20977G>A (p.Val6993Ile)
|
rs779881258
|
0.00001
|
NM_001164508.2(NEB):c.20998-7A>C
|
rs1408680616
|
0.00001
|
NM_001164508.2(NEB):c.2099A>G (p.Asn700Ser)
|
rs770240346
|
0.00001
|
NM_001164508.2(NEB):c.2103T>C (p.Ser701=)
|
rs535236430
|
0.00001
|
NM_001164508.2(NEB):c.21042G>A (p.Arg7014=)
|
rs778067687
|
0.00001
|
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=)
|
rs767655200
|
0.00001
|
NM_001164508.2(NEB):c.21075C>T (p.His7025=)
|
rs1458419547
|
0.00001
|
NM_001164508.2(NEB):c.21077G>A (p.Arg7026Gln)
|
rs1487630736
|
0.00001
|
NM_001164508.2(NEB):c.21103-5C>T
|
rs1331120255
|
0.00001
|
NM_001164508.2(NEB):c.21105A>G (p.Val7035=)
|
rs906097458
|
0.00001
|
NM_001164508.2(NEB):c.2112T>C (p.Ser704=)
|
rs776853993
|
0.00001
|
NM_001164508.2(NEB):c.21144T>A (p.Gly7048=)
|
rs2093339533
|
0.00001
|
NM_001164508.2(NEB):c.21162C>T (p.Thr7054=)
|
rs766718173
|
0.00001
|
NM_001164508.2(NEB):c.21196C>A (p.Leu7066Ile)
|
rs1428589113
|
0.00001
|
NM_001164508.2(NEB):c.21208-9T>G
|
rs757819342
|
0.00001
|
NM_001164508.2(NEB):c.21209A>G (p.Tyr7070Cys)
|
rs754366347
|
0.00001
|
NM_001164508.2(NEB):c.21269C>T (p.Pro7090Leu)
|
rs752467283
|
0.00001
|
NM_001164508.2(NEB):c.21301T>C (p.Leu7101=)
|
rs779321362
|
0.00001
|
NM_001164508.2(NEB):c.21312+5G>A
|
rs778363526
|
0.00001
|
NM_001164508.2(NEB):c.21312+8T>A
|
rs756535543
|
0.00001
|
NM_001164508.2(NEB):c.21313-2A>T
|
rs1212081578
|
0.00001
|
NM_001164508.2(NEB):c.21313-788A>G
|
rs146997299
|
0.00001
|
NM_001164508.2(NEB):c.21313-8A>G
|
rs1451057843
|
0.00001
|
NM_001164508.2(NEB):c.2135A>T (p.Asp712Val)
|
rs563934691
|
0.00001
|
NM_001164508.2(NEB):c.21370C>T (p.Arg7124Cys)
|
rs756984541
|
0.00001
|
NM_001164508.2(NEB):c.213C>T (p.Val71=)
|
rs745325085
|
0.00001
|
NM_001164508.2(NEB):c.21462C>G (p.Thr7154=)
|
rs1418109058
|
0.00001
|
NM_001164508.2(NEB):c.21466A>G (p.Ile7156Val)
|
rs745586435
|
0.00001
|
NM_001164508.2(NEB):c.21480A>G (p.Pro7160=)
|
rs1412224941
|
0.00001
|
NM_001164508.2(NEB):c.21497C>T (p.Thr7166Ile)
|
rs766520487
|
0.00001
|
NM_001164508.2(NEB):c.21513A>C (p.Gln7171His)
|
rs542149432
|
0.00001
|
NM_001164508.2(NEB):c.21535T>C (p.Leu7179=)
|
rs752691224
|
0.00001
|
NM_001164508.2(NEB):c.2154C>T (p.Phe718=)
|
rs1165258877
|
0.00001
|
NM_001164508.2(NEB):c.21564C>A (p.Gly7188=)
|
rs775887037
|
0.00001
|
NM_001164508.2(NEB):c.21566A>T (p.Tyr7189Phe)
|
rs794727042
|
0.00001
|
NM_001164508.2(NEB):c.21590T>C (p.Met7197Thr)
|
rs1229421352
|
0.00001
|
NM_001164508.2(NEB):c.21628G>A (p.Asp7210Asn)
|
rs2090426850
|
0.00001
|
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile)
|
rs749168085
|
0.00001
|
NM_001164508.2(NEB):c.21630+6T>G
|
rs1401750275
|
0.00001
|
NM_001164508.2(NEB):c.21631-8T>C
|
rs1394610862
|
0.00001
|
NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro)
|
rs777945797
|
0.00001
|
NM_001164508.2(NEB):c.21714C>T (p.Asp7238=)
|
rs756345641
|
0.00001
|
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser)
|
rs751872533
|
0.00001
|
NM_001164508.2(NEB):c.21735T>C (p.Asn7245=)
|
rs568248647
|
0.00001
|
NM_001164508.2(NEB):c.21736-13_21743del
|
rs767772838
|
0.00001
|
NM_001164508.2(NEB):c.21756C>T (p.Tyr7252=)
|
rs772151729
|
0.00001
|
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp)
|
rs778063345
|
0.00001
|
NM_001164508.2(NEB):c.21762C>T (p.Ala7254=)
|
rs1165988292
|
0.00001
|
NM_001164508.2(NEB):c.21765C>T (p.Asn7255=)
|
rs180903156
|
0.00001
|
NM_001164508.2(NEB):c.21771C>T (p.Ala7257=)
|
rs748363300
|
0.00001
|
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)
|
rs750900690
|
0.00001
|
NM_001164508.2(NEB):c.21829C>A (p.Gln7277Lys)
|
rs887471790
|
0.00001
|
NM_001164508.2(NEB):c.21840T>C (p.Asp7280=)
|
rs770721746
|
0.00001
|
NM_001164508.2(NEB):c.21841-18G>A
|
rs201961566
|
0.00001
|
NM_001164508.2(NEB):c.21841-6T>A
|
rs767466501
|
0.00001
|
NM_001164508.2(NEB):c.21906C>T (p.Asn7302=)
|
rs757845188
|
0.00001
|
NM_001164508.2(NEB):c.21909G>A (p.Thr7303=)
|
rs777379650
|
0.00001
|
NM_001164508.2(NEB):c.21915C>T (p.Leu7305=)
|
rs373945534
|
0.00001
|
NM_001164508.2(NEB):c.21946-9C>T
|
rs746067563
|
0.00001
|
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)
|
rs756646859
|
0.00001
|
NM_001164508.2(NEB):c.21974A>G (p.Glu7325Gly)
|
rs1159938154
|
0.00001
|
NM_001164508.2(NEB):c.21976A>C (p.Arg7326=)
|
rs780790042
|
0.00001
|
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu)
|
rs780299519
|
0.00001
|
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val)
|
rs550296441
|
0.00001
|
NM_001164508.2(NEB):c.22023G>A (p.Ala7341=)
|
rs533246582
|
0.00001
|
NM_001164508.2(NEB):c.22051-3C>A
|
rs1172424440
|
0.00001
|
NM_001164508.2(NEB):c.22067A>G (p.His7356Arg)
|
rs1447292730
|
0.00001
|
NM_001164508.2(NEB):c.22068T>C (p.His7356=)
|
rs779559380
|
0.00001
|
NM_001164508.2(NEB):c.22091G>A (p.Gly7364Asp)
|
rs376684415
|
0.00001
|
NM_001164508.2(NEB):c.22104A>T (p.Thr7368=)
|
rs756011050
|
0.00001
|
NM_001164508.2(NEB):c.2211+5G>T
|
rs797045736
|
0.00001
|
NM_001164508.2(NEB):c.22114A>C (p.Thr7372Pro)
|
rs750642580
|
0.00001
|
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp)
|
rs779004876
|
0.00001
|
NM_001164508.2(NEB):c.22118G>A (p.Arg7373Gln)
|
rs763323693
|
0.00001
|
NM_001164508.2(NEB):c.22124C>G (p.Thr7375Ser)
|
rs1195608964
|
0.00001
|
NM_001164508.2(NEB):c.22144A>C (p.Thr7382Pro)
|
rs761232641
|
0.00001
|
NM_001164508.2(NEB):c.22152T>C (p.His7384=)
|
rs771582884
|
0.00001
|
NM_001164508.2(NEB):c.22161+17C>T
|
rs777563421
|
0.00001
|
NM_001164508.2(NEB):c.22161+5G>C
|
rs376988538
|
0.00001
|
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)
|
rs748922882
|
0.00001
|
NM_001164508.2(NEB):c.2217C>T (p.Thr739=)
|
rs1298727978
|
0.00001
|
NM_001164508.2(NEB):c.22212C>T (p.Ser7404=)
|
rs754896798
|
0.00001
|
NM_001164508.2(NEB):c.22219C>T (p.Leu7407=)
|
rs745959432
|
0.00001
|
NM_001164508.2(NEB):c.22260G>A (p.Lys7420=)
|
rs756526984
|
0.00001
|
NM_001164508.2(NEB):c.22268G>A (p.Ser7423Asn)
|
rs759974940
|
0.00001
|
NM_001164508.2(NEB):c.22272+7T>C
|
rs762551492
|
0.00001
|
NM_001164508.2(NEB):c.22329A>G (p.Arg7443=)
|
rs1426162103
|
0.00001
|
NM_001164508.2(NEB):c.22338C>T (p.Ile7446=)
|
rs2084202001
|
0.00001
|
NM_001164508.2(NEB):c.22374+20G>C
|
rs764649803
|
0.00001
|
NM_001164508.2(NEB):c.22374+6G>A
|
rs749050869
|
0.00001
|
NM_001164508.2(NEB):c.22375-1G>A
|
rs949331605
|
0.00001
|
NM_001164508.2(NEB):c.22395C>T (p.His7465=)
|
rs1411071874
|
0.00001
|
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys)
|
rs768826001
|
0.00001
|
NM_001164508.2(NEB):c.22412A>G (p.His7471Arg)
|
rs1553641474
|
0.00001
|
NM_001164508.2(NEB):c.22434C>T (p.Arg7478=)
|
rs759555138
|
0.00001
|
NM_001164508.2(NEB):c.22439A>C (p.Asp7480Ala)
|
rs886054928
|
0.00001
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
NM_001164508.2(NEB):c.22502A>G (p.Asp7501Gly)
|
rs771620082
|
0.00001
|
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu)
|
rs376495046
|
0.00001
|
NM_001164508.2(NEB):c.22537A>G (p.Lys7513Glu)
|
rs570049431
|
0.00001
|
NM_001164508.2(NEB):c.22542C>T (p.Asp7514=)
|
rs375181577
|
0.00001
|
NM_001164508.2(NEB):c.22591-1G>C
|
rs757157808
|
0.00001
|
NM_001164508.2(NEB):c.2259T>C (p.Thr753=)
|
rs764355001
|
0.00001
|
NM_001164508.2(NEB):c.22623C>T (p.His7541=)
|
rs751787450
|
0.00001
|
NM_001164508.2(NEB):c.22629C>T (p.Pro7543=)
|
rs373263895
|
0.00001
|
NM_001164508.2(NEB):c.22663C>T (p.His7555Tyr)
|
rs746454129
|
0.00001
|
NM_001164508.2(NEB):c.22672A>T (p.Asn7558Tyr)
|
rs771643485
|
0.00001
|
NM_001164508.2(NEB):c.22696-10T>C
|
rs1212927796
|
0.00001
|
NM_001164508.2(NEB):c.22696-1G>A
|
rs745511810
|
0.00001
|
NM_001164508.2(NEB):c.22749C>T (p.Pro7583=)
|
rs1250895200
|
0.00001
|
NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn)
|
rs758761216
|
0.00001
|
NM_001164508.2(NEB):c.22774A>C (p.Lys7592Gln)
|
rs903199022
|
0.00001
|
NM_001164508.2(NEB):c.22801-10C>T
|
rs1473693561
|
0.00001
|
NM_001164508.2(NEB):c.22801-18A>G
|
rs540306408
|
0.00001
|
NM_001164508.2(NEB):c.22801-7T>C
|
rs368298970
|
0.00001
|
NM_001164508.2(NEB):c.22801-8del
|
rs1182051750
|
0.00001
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
NM_001164508.2(NEB):c.22850A>G (p.Asp7617Gly)
|
rs776739582
|
0.00001
|
NM_001164508.2(NEB):c.22868A>C (p.Tyr7623Ser)
|
rs370518330
|
0.00001
|
NM_001164508.2(NEB):c.22905+2T>C
|
rs1553623367
|
0.00001
|
NM_001164508.2(NEB):c.22906-6C>T
|
rs1449487575
|
0.00001
|
NM_001164508.2(NEB):c.22938T>A (p.Ile7646=)
|
rs967073964
|
0.00001
|
NM_001164508.2(NEB):c.22951C>T (p.Leu7651=)
|
rs774527373
|
0.00001
|
NM_001164508.2(NEB):c.22970C>T (p.Thr7657Met)
|
rs770889470
|
0.00001
|
NM_001164508.2(NEB):c.22971G>A (p.Thr7657=)
|
rs750627350
|
0.00001
|
NM_001164508.2(NEB):c.22974A>G (p.Pro7658=)
|
rs1270451426
|
0.00001
|
NM_001164508.2(NEB):c.22986T>C (p.His7662=)
|
rs149606244
|
0.00001
|
NM_001164508.2(NEB):c.22995T>C (p.Tyr7665=)
|
rs954547329
|
0.00001
|
NM_001164508.2(NEB):c.23002A>G (p.Lys7668Glu)
|
rs755548124
|
0.00001
|
NM_001164508.2(NEB):c.23016+1G>A
|
rs111833078
|
0.00001
|
NM_001164508.2(NEB):c.23016+9C>T
|
rs1387840399
|
0.00001
|
NM_001164508.2(NEB):c.23017-11T>A
|
rs887145332
|
0.00001
|
NM_001164508.2(NEB):c.23024A>T (p.Tyr7675Phe)
|
rs1284363805
|
0.00001
|
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu)
|
rs768880396
|
0.00001
|
NM_001164508.2(NEB):c.2306G>A (p.Ser769Asn)
|
rs534124991
|
0.00001
|
NM_001164508.2(NEB):c.23079T>C (p.Asp7693=)
|
rs745425031
|
0.00001
|
NM_001164508.2(NEB):c.23085T>C (p.Pro7695=)
|
rs753516486
|
0.00001
|
NM_001164508.2(NEB):c.23127+2T>C
|
rs112610938
|
0.00001
|
NM_001164508.2(NEB):c.23128-5T>C
|
rs1349957816
|
0.00001
|
NM_001164508.2(NEB):c.23136T>C (p.Tyr7712=)
|
rs1369918746
|
0.00001
|
NM_001164508.2(NEB):c.23160C>G (p.Val7720=)
|
rs1271111461
|
0.00001
|
NM_001164508.2(NEB):c.23279A>G (p.Asn7760Ser)
|
rs1232744915
|
0.00001
|
NM_001164508.2(NEB):c.23307G>A (p.Glu7769=)
|
rs1047502171
|
0.00001
|
NM_001164508.2(NEB):c.23340A>G (p.Ser7780=)
|
rs761315020
|
0.00001
|
NM_001164508.2(NEB):c.23359G>A (p.Glu7787Lys)
|
rs1476557676
|
0.00001
|
NM_001164508.2(NEB):c.23398T>C (p.Leu7800=)
|
rs781419958
|
0.00001
|
NM_001164508.2(NEB):c.23439G>A (p.Lys7813=)
|
rs775150466
|
0.00001
|
NM_001164508.2(NEB):c.23451+1G>T
|
rs1011425121
|
0.00001
|
NM_001164508.2(NEB):c.23551A>T (p.Ser7851Cys)
|
rs371991383
|
0.00001
|
NM_001164508.2(NEB):c.23556+9A>C
|
rs1226676144
|
0.00001
|
NM_001164508.2(NEB):c.23594T>C (p.Ile7865Thr)
|
rs2068741180
|
0.00001
|
NM_001164508.2(NEB):c.23596G>A (p.Gly7866Arg)
|
rs1480807112
|
0.00001
|
NM_001164508.2(NEB):c.23649+7A>C
|
rs370599158
|
0.00001
|
NM_001164508.2(NEB):c.23649G>A (p.Ser7883=)
|
rs778102984
|
0.00001
|
NM_001164508.2(NEB):c.23660A>C (p.Lys7887Thr)
|
rs1166941249
|
0.00001
|
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly)
|
rs201498216
|
0.00001
|
NM_001164508.2(NEB):c.23697G>A (p.Leu7899=)
|
rs1559329066
|
0.00001
|
NM_001164508.2(NEB):c.23703A>G (p.Glu7901=)
|
rs779612457
|
0.00001
|
NM_001164508.2(NEB):c.23724G>A (p.Thr7908=)
|
rs778666699
|
0.00001
|
NM_001164508.2(NEB):c.23764G>A (p.Gly7922Arg)
|
rs762094581
|
0.00001
|
NM_001164508.2(NEB):c.23765G>C (p.Gly7922Ala)
|
rs1253296856
|
0.00001
|
NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly)
|
rs1318564274
|
0.00001
|
NM_001164508.2(NEB):c.23805A>G (p.Arg7935=)
|
rs1481356421
|
0.00001
|
NM_001164508.2(NEB):c.23816A>G (p.Asn7939Ser)
|
rs1461067378
|
0.00001
|
NM_001164508.2(NEB):c.23835+15A>C
|
rs531906107
|
0.00001
|
NM_001164508.2(NEB):c.23836-17T>C
|
rs1353520876
|
0.00001
|
NM_001164508.2(NEB):c.23849A>T (p.Glu7950Val)
|
rs746929871
|
0.00001
|
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln)
|
rs767969927
|
0.00001
|
NM_001164508.2(NEB):c.23928+10A>G
|
rs746768491
|
0.00001
|
NM_001164508.2(NEB):c.23932T>C (p.Leu7978=)
|
rs781522067
|
0.00001
|
NM_001164508.2(NEB):c.23940A>T (p.Lys7980Asn)
|
rs1055476485
|
0.00001
|
NM_001164508.2(NEB):c.23947T>C (p.Leu7983=)
|
rs1219012029
|
0.00001
|
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)
|
rs1202510810
|
0.00001
|
NM_001164508.2(NEB):c.23987A>T (p.Glu7996Val)
|
rs1312647029
|
0.00001
|
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu)
|
rs763365852
|
0.00001
|
NM_001164508.2(NEB):c.24021+8G>A
|
rs1361035933
|
0.00001
|
NM_001164508.2(NEB):c.24022-1G>C
|
rs1553561697
|
0.00001
|
NM_001164508.2(NEB):c.24039C>T (p.Asn8013=)
|
rs554603516
|
0.00001
|
NM_001164508.2(NEB):c.24114+8A>C
|
rs979788051
|
0.00001
|
NM_001164508.2(NEB):c.24115G>T (p.Val8039Leu)
|
rs1037262755
|
0.00001
|
NM_001164508.2(NEB):c.2415+13G>A
|
rs775842716
|
0.00001
|
NM_001164508.2(NEB):c.2415+2T>C
|
rs1057517399
|
0.00001
|
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter)
|
rs1323364980
|
0.00001
|
NM_001164508.2(NEB):c.24198C>A (p.Asn8066Lys)
|
rs2061715771
|
0.00001
|
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)
|
rs763193315
|
0.00001
|
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)
|
rs1553552413
|
0.00001
|
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)
|
rs756726488
|
0.00001
|
NM_001164508.2(NEB):c.24216C>T (p.Tyr8072=)
|
rs376221776
|
0.00001
|
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)
|
rs1218073575
|
0.00001
|
NM_001164508.2(NEB):c.24254C>G (p.Thr8085Ser)
|
rs1297487988
|
0.00001
|
NM_001164508.2(NEB):c.24258C>T (p.Pro8086=)
|
rs1400587382
|
0.00001
|
NM_001164508.2(NEB):c.24262A>G (p.Met8088Val)
|
rs746180925
|
0.00001
|
NM_001164508.2(NEB):c.24293T>C (p.Ile8098Thr)
|
rs372228043
|
0.00001
|
NM_001164508.2(NEB):c.24295A>T (p.Ser8099Cys)
|
rs1489581077
|
0.00001
|
NM_001164508.2(NEB):c.24300+1G>A
|
rs1366853918
|
0.00001
|
NM_001164508.2(NEB):c.24301-7C>T
|
rs755582434
|
0.00001
|
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs)
|
rs1559207733
|
0.00001
|
NM_001164508.2(NEB):c.24306A>C (p.Leu8102Phe)
|
rs1217235799
|
0.00001
|
NM_001164508.2(NEB):c.24345C>T (p.Val8115=)
|
rs922674535
|
0.00001
|
NM_001164508.2(NEB):c.24351T>C (p.Pro8117=)
|
rs1178940302
|
0.00001
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
NM_001164508.2(NEB):c.2437G>A (p.Glu813Lys)
|
rs752442261
|
0.00001
|
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp)
|
rs960735572
|
0.00001
|
NM_001164508.2(NEB):c.24393+19A>G
|
rs999752806
|
0.00001
|
NM_001164508.2(NEB):c.24393+1G>A
|
rs775631800
|
0.00001
|
NM_001164508.2(NEB):c.24393G>A (p.Ser8131=)
|
rs527744844
|
0.00001
|
NM_001164508.2(NEB):c.24394-5C>G
|
rs780723893
|
0.00001
|
NM_001164508.2(NEB):c.24394-6G>A
|
rs1160511236
|
0.00001
|
NM_001164508.2(NEB):c.24394-7C>T
|
rs747680930
|
0.00001
|
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)
|
rs762133567
|
0.00001
|
NM_001164508.2(NEB):c.24402C>T (p.Tyr8134=)
|
rs758277406
|
0.00001
|
NM_001164508.2(NEB):c.24413T>C (p.Met8138Thr)
|
rs1320244420
|
0.00001
|
NM_001164508.2(NEB):c.2442G>A (p.Lys814=)
|
rs538990928
|
0.00001
|
NM_001164508.2(NEB):c.24449T>C (p.Met8150Thr)
|
rs774559645
|
0.00001
|
NM_001164508.2(NEB):c.24486+8G>A
|
rs756949795
|
0.00001
|
NM_001164508.2(NEB):c.24486G>A (p.Ser8162=)
|
rs1230102324
|
0.00001
|
NM_001164508.2(NEB):c.24487-13T>C
|
rs2058626028
|
0.00001
|
NM_001164508.2(NEB):c.24493T>C (p.Tyr8165His)
|
rs775139388
|
0.00001
|
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)
|
rs398124169
|
0.00001
|
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)
|
rs555445835
|
0.00001
|
NM_001164508.2(NEB):c.24528T>C (p.Pro8176=)
|
rs780085645
|
0.00001
|
NM_001164508.2(NEB):c.2454G>A (p.Lys818=)
|
rs1238118025
|
0.00001
|
NM_001164508.2(NEB):c.24580-8T>C
|
rs1040110151
|
0.00001
|
NM_001164508.2(NEB):c.24673-9C>T
|
rs765830534
|
0.00001
|
NM_001164508.2(NEB):c.24696A>G (p.Arg8232=)
|
rs1353296146
|
0.00001
|
NM_001164508.2(NEB):c.24708G>A (p.Pro8236=)
|
rs768683537
|
0.00001
|
NM_001164508.2(NEB):c.24729G>A (p.Met8243Ile)
|
rs2058043130
|
0.00001
|
NM_001164508.2(NEB):c.24738T>C (p.Ala8246=)
|
rs1057524338
|
0.00001
|
NM_001164508.2(NEB):c.24743G>A (p.Arg8248His)
|
rs781388562
|
0.00001
|
NM_001164508.2(NEB):c.24765+10A>G
|
rs761427890
|
0.00001
|
NM_001164508.2(NEB):c.24765+13A>G
|
rs1357923263
|
0.00001
|
NM_001164508.2(NEB):c.24771T>G (p.Leu8257=)
|
rs1298212749
|
0.00001
|
NM_001164508.2(NEB):c.24828C>A (p.Thr8276=)
|
rs1231234319
|
0.00001
|
NM_001164508.2(NEB):c.24831C>T (p.Pro8277=)
|
rs1170681985
|
0.00001
|
NM_001164508.2(NEB):c.24862C>T (p.His8288Tyr)
|
rs1174473779
|
0.00001
|
NM_001164508.2(NEB):c.24873+7C>T
|
rs372378614
|
0.00001
|
NM_001164508.2(NEB):c.2488T>C (p.Leu830=)
|
rs747186813
|
0.00001
|
NM_001164508.2(NEB):c.24918A>C (p.Thr8306=)
|
rs751387280
|
0.00001
|
NM_001164508.2(NEB):c.24933T>C (p.Asp8311=)
|
rs1346509416
|
0.00001
|
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)
|
rs758327681
|
0.00001
|
NM_001164508.2(NEB):c.249C>T (p.Thr83=)
|
rs200936927
|
0.00001
|
NM_001164508.2(NEB):c.25057+7G>A
|
rs928603766
|
0.00001
|
NM_001164508.2(NEB):c.25063C>T (p.Arg8355Cys)
|
rs745632829
|
0.00001
|
NM_001164508.2(NEB):c.25065T>C (p.Arg8355=)
|
rs1290219667
|
0.00001
|
NM_001164508.2(NEB):c.25072C>T (p.Arg8358Cys)
|
rs757107530
|
0.00001
|
NM_001164508.2(NEB):c.25089G>A (p.Ser8363=)
|
rs766453942
|
0.00001
|
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=)
|
rs763433145
|
0.00001
|
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)
|
rs1472403020
|
0.00001
|
NM_001164508.2(NEB):c.25150+3G>A
|
rs556224656
|
0.00001
|
NM_001164508.2(NEB):c.25167G>C (p.Arg8389=)
|
rs2055496981
|
0.00001
|
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)
|
rs747179265
|
0.00001
|
NM_001164508.2(NEB):c.25194T>C (p.Ser8398=)
|
rs1295808591
|
0.00001
|
NM_001164508.2(NEB):c.2520C>T (p.Ser840=)
|
rs757826030
|
0.00001
|
NM_001164508.2(NEB):c.25219G>A (p.Glu8407Lys)
|
rs766943894
|
0.00001
|
NM_001164508.2(NEB):c.25221G>A (p.Glu8407=)
|
rs759047810
|
0.00001
|
NM_001164508.2(NEB):c.2523+5G>C
|
rs755864993
|
0.00001
|
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu)
|
rs949111967
|
0.00001
|
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter)
|
rs1433028646
|
0.00001
|
NM_001164508.2(NEB):c.25278T>A (p.Gly8426=)
|
rs779322634
|
0.00001
|
NM_001164508.2(NEB):c.25297+16G>A
|
rs1258470846
|
0.00001
|
NM_001164508.2(NEB):c.25298-12_25298-10del
|
rs1296705502
|
0.00001
|
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)
|
rs778104284
|
0.00001
|
NM_001164508.2(NEB):c.25332A>G (p.Gln8444=)
|
rs748525509
|
0.00001
|
NM_001164508.2(NEB):c.2533A>G (p.Lys845Glu)
|
rs772154599
|
0.00001
|
NM_001164508.2(NEB):c.25404+1_25404+2insATGGA
|
rs1357452519
|
0.00001
|
NM_001164508.2(NEB):c.25405-3T>G
|
rs1222497271
|
0.00001
|
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter)
|
rs1242654062
|
0.00001
|
NM_001164508.2(NEB):c.25431T>C (p.Tyr8477=)
|
rs1407162161
|
0.00001
|
NM_001164508.2(NEB):c.25433T>C (p.Met8478Thr)
|
rs141449286
|
0.00001
|
NM_001164508.2(NEB):c.25521T>C (p.Thr8507=)
|
rs1415304405
|
0.00001
|
NM_001164508.2(NEB):c.25524G>A (p.Val8508=)
|
rs1574250751
|
0.00001
|
NM_001164508.2(NEB):c.25543G>A (p.Gly8515Arg)
|
rs776932788
|
0.00001
|
NM_001164508.2(NEB):c.25563C>T (p.Tyr8521=)
|
rs746382045
|
0.00001
|
NM_001164508.2(NEB):c.2579G>A (p.Ser860Asn)
|
rs1368018193
|
0.00001
|
NM_001164508.2(NEB):c.2593C>T (p.Pro865Ser)
|
rs751373246
|
0.00001
|
NM_001164508.2(NEB):c.2648G>A (p.Arg883Gln)
|
rs751875993
|
0.00001
|
NM_001164508.2(NEB):c.2700C>T (p.Leu900=)
|
rs2099481133
|
0.00001
|
NM_001164508.2(NEB):c.2742C>T (p.Asp914=)
|
rs766761991
|
0.00001
|
NM_001164508.2(NEB):c.2748T>C (p.Asp916=)
|
rs765482394
|
0.00001
|
NM_001164508.2(NEB):c.2755C>G (p.His919Asp)
|
rs373168257
|
0.00001
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
NM_001164508.2(NEB):c.2892T>C (p.Phe964=)
|
rs762595663
|
0.00001
|
NM_001164508.2(NEB):c.2909A>T (p.Glu970Val)
|
rs1337927808
|
0.00001
|
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)
|
rs1553548666
|
0.00001
|
NM_001164508.2(NEB):c.2923G>A (p.Ala975Thr)
|
rs917645712
|
0.00001
|
NM_001164508.2(NEB):c.2930A>G (p.Asp977Gly)
|
rs1414304435
|
0.00001
|
NM_001164508.2(NEB):c.2931C>T (p.Asp977=)
|
rs1576205507
|
0.00001
|
NM_001164508.2(NEB):c.2939A>G (p.Asn980Ser)
|
rs778993104
|
0.00001
|
NM_001164508.2(NEB):c.294+1G>A
|
rs759956258
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.2943+1G>A
|
rs113091511
|
0.00001
|
NM_001164508.2(NEB):c.2946A>G (p.Lys982=)
|
rs749332680
|
0.00001
|
NM_001164508.2(NEB):c.295-2A>G
|
rs1428300892
|
0.00001
|
NM_001164508.2(NEB):c.2954G>A (p.Arg985His)
|
rs769987120
|
0.00001
|
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala)
|
rs1043417027
|
0.00001
|
NM_001164508.2(NEB):c.2979T>C (p.Phe993=)
|
rs780408206
|
0.00001
|
NM_001164508.2(NEB):c.2985G>A (p.Ser995=)
|
rs574544074
|
0.00001
|
NM_001164508.2(NEB):c.2994T>C (p.Asp998=)
|
rs1278192732
|
0.00001
|
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser)
|
rs763910385
|
0.00001
|
NM_001164508.2(NEB):c.3042+8T>C
|
rs190108219
|
0.00001
|
NM_001164508.2(NEB):c.3043-16T>A
|
rs767501380
|
0.00001
|
NM_001164508.2(NEB):c.3077A>G (p.His1026Arg)
|
rs377244662
|
0.00001
|
NM_001164508.2(NEB):c.3078C>T (p.His1026=)
|
rs768759490
|
0.00001
|
NM_001164508.2(NEB):c.3105C>T (p.Pro1035=)
|
rs778589014
|
0.00001
|
NM_001164508.2(NEB):c.3131C>G (p.Ala1044Gly)
|
rs748741238
|
0.00001
|
NM_001164508.2(NEB):c.3132C>T (p.Ala1044=)
|
rs1576093509
|
0.00001
|
NM_001164508.2(NEB):c.3147+18C>T
|
rs369903833
|
0.00001
|
NM_001164508.2(NEB):c.3155A>G (p.Tyr1052Cys)
|
rs758214665
|
0.00001
|
NM_001164508.2(NEB):c.3165C>T (p.Asp1055=)
|
rs1448712345
|
0.00001
|
NM_001164508.2(NEB):c.3168G>T (p.Leu1056Phe)
|
rs1254743889
|
0.00001
|
NM_001164508.2(NEB):c.3207T>G (p.Asp1069Glu)
|
rs1419430871
|
0.00001
|
NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp)
|
rs574309369
|
0.00001
|
NM_001164508.2(NEB):c.3224C>T (p.Ala1075Val)
|
rs574309369
|
0.00001
|
NM_001164508.2(NEB):c.3240G>A (p.Arg1080=)
|
rs376636568
|
0.00001
|
NM_001164508.2(NEB):c.3248C>T (p.Ala1083Val)
|
rs532130242
|
0.00001
|
NM_001164508.2(NEB):c.3249G>A (p.Ala1083=)
|
rs901066301
|
0.00001
|
NM_001164508.2(NEB):c.3255+2dup
|
rs1276026682
|
0.00001
|
NM_001164508.2(NEB):c.3260A>G (p.Gln1087Arg)
|
rs753378097
|
0.00001
|
NM_001164508.2(NEB):c.3275A>C (p.Tyr1092Ser)
|
rs771687432
|
0.00001
|
NM_001164508.2(NEB):c.3349G>A (p.Val1117Met)
|
rs1404806019
|
0.00001
|
NM_001164508.2(NEB):c.334C>A (p.Pro112Thr)
|
rs369292364
|
0.00001
|
NM_001164508.2(NEB):c.3371G>A (p.Arg1124Gln)
|
rs750762588
|
0.00001
|
NM_001164508.2(NEB):c.3372G>A (p.Arg1124=)
|
rs779300537
|
0.00001
|
NM_001164508.2(NEB):c.3373G>C (p.Glu1125Gln)
|
rs757784515
|
0.00001
|
NM_001164508.2(NEB):c.3379A>G (p.Lys1127Glu)
|
rs1180667550
|
0.00001
|
NM_001164508.2(NEB):c.3390T>C (p.Tyr1130=)
|
rs767079113
|
0.00001
|
NM_001164508.2(NEB):c.33G>A (p.Val11=)
|
rs1269024269
|
0.00001
|
NM_001164508.2(NEB):c.3435T>C (p.Asn1145=)
|
rs376524766
|
0.00001
|
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met)
|
rs757659868
|
0.00001
|
NM_001164508.2(NEB):c.3516T>G (p.Pro1172=)
|
rs1471310622
|
0.00001
|
NM_001164508.2(NEB):c.3519C>T (p.Asp1173=)
|
rs376512820
|
0.00001
|
NM_001164508.2(NEB):c.3532G>A (p.Glu1178Lys)
|
rs774703099
|
0.00001
|
NM_001164508.2(NEB):c.3547A>G (p.Met1183Val)
|
rs371816204
|
0.00001
|
NM_001164508.2(NEB):c.3568-10A>G
|
rs774345653
|
0.00001
|
NM_001164508.2(NEB):c.3568-6C>T
|
rs1296240815
|
0.00001
|
NM_001164508.2(NEB):c.3633C>T (p.Leu1211=)
|
rs766661319
|
0.00001
|
NM_001164508.2(NEB):c.3679A>C (p.Lys1227Gln)
|
rs769891018
|
0.00001
|
NM_001164508.2(NEB):c.3684C>T (p.Tyr1228=)
|
rs2099380911
|
0.00001
|
NM_001164508.2(NEB):c.3687G>A (p.Arg1229=)
|
rs2099380866
|
0.00001
|
NM_001164508.2(NEB):c.37-1G>A
|
rs1428597732
|
0.00001
|
NM_001164508.2(NEB):c.37-8A>G
|
rs770174815
|
0.00001
|
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu)
|
rs537769519
|
0.00001
|
NM_001164508.2(NEB):c.3756C>T (p.Asn1252=)
|
rs755915064
|
0.00001
|
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met)
|
rs767433330
|
0.00001
|
NM_001164508.2(NEB):c.3774+9A>G
|
rs777079728
|
0.00001
|
NM_001164508.2(NEB):c.3774T>C (p.Asp1258=)
|
rs761903657
|
0.00001
|
NM_001164508.2(NEB):c.3775-8T>C
|
rs1470998589
|
0.00001
|
NM_001164508.2(NEB):c.3780A>G (p.Leu1260=)
|
rs747924696
|
0.00001
|
NM_001164508.2(NEB):c.3816C>T (p.Tyr1272=)
|
rs765183358
|
0.00001
|
NM_001164508.2(NEB):c.3867C>T (p.Tyr1289=)
|
rs1010944283
|
0.00001
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
NM_001164508.2(NEB):c.390T>A (p.Asp130Glu)
|
rs2099787749
|
0.00001
|
NM_001164508.2(NEB):c.3969G>A (p.Ser1323=)
|
rs933068354
|
0.00001
|
NM_001164508.2(NEB):c.3987T>C (p.Asp1329=)
|
rs764778381
|
0.00001
|
NM_001164508.2(NEB):c.3988-15A>G
|
rs1159293402
|
0.00001
|
NM_001164508.2(NEB):c.3995A>G (p.Tyr1332Cys)
|
rs770929631
|
0.00001
|
NM_001164508.2(NEB):c.4003G>A (p.Ala1335Thr)
|
rs1219059740
|
0.00001
|
NM_001164508.2(NEB):c.4020G>A (p.Lys1340=)
|
rs776811136
|
0.00001
|
NM_001164508.2(NEB):c.4060A>G (p.Lys1354Glu)
|
rs371454282
|
0.00001
|
NM_001164508.2(NEB):c.4079A>G (p.Asn1360Ser)
|
rs774219262
|
0.00001
|
NM_001164508.2(NEB):c.408G>A (p.Lys136=)
|
rs781228798
|
0.00001
|
NM_001164508.2(NEB):c.4094A>T (p.Gln1365Leu)
|
rs375155384
|
0.00001
|
NM_001164508.2(NEB):c.4102C>T (p.Arg1368Cys)
|
rs772128314
|
0.00001
|
NM_001164508.2(NEB):c.4109A>G (p.Tyr1370Cys)
|
rs1230970164
|
0.00001
|
NM_001164508.2(NEB):c.4122T>C (p.Tyr1374=)
|
rs778135952
|
0.00001
|
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln)
|
rs747423578
|
0.00001
|
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg)
|
rs762809955
|
0.00001
|
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn)
|
rs534646949
|
0.00001
|
NM_001164508.2(NEB):c.4218A>G (p.Lys1406=)
|
rs754513702
|
0.00001
|
NM_001164508.2(NEB):c.4227G>A (p.Leu1409=)
|
rs1414666715
|
0.00001
|
NM_001164508.2(NEB):c.4229A>G (p.His1410Arg)
|
rs758328454
|
0.00001
|
NM_001164508.2(NEB):c.422G>T (p.Gly141Val)
|
rs973669056
|
0.00001
|
NM_001164508.2(NEB):c.4233T>G (p.His1411Gln)
|
rs2099312487
|
0.00001
|
NM_001164508.2(NEB):c.4243C>T (p.Leu1415=)
|
rs749514411
|
0.00001
|
NM_001164508.2(NEB):c.4299+9G>A
|
rs746505680
|
0.00001
|
NM_001164508.2(NEB):c.4326C>T (p.Ser1442=)
|
rs1196827078
|
0.00001
|
NM_001164508.2(NEB):c.4337G>A (p.Gly1446Asp)
|
rs541803470
|
0.00001
|
NM_001164508.2(NEB):c.4375A>G (p.Lys1459Glu)
|
rs371542110
|
0.00001
|
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=)
|
rs755877926
|
0.00001
|
NM_001164508.2(NEB):c.4443C>T (p.Phe1481=)
|
rs764603716
|
0.00001
|
NM_001164508.2(NEB):c.4478C>T (p.Ala1493Val)
|
rs772819515
|
0.00001
|
NM_001164508.2(NEB):c.447C>T (p.His149=)
|
rs2099785791
|
0.00001
|
NM_001164508.2(NEB):c.4485T>C (p.His1495=)
|
rs781005189
|
0.00001
|
NM_001164508.2(NEB):c.4507-3T>C
|
rs747017871
|
0.00001
|
NM_001164508.2(NEB):c.452A>T (p.Asp151Val)
|
rs2099785772
|
0.00001
|
NM_001164508.2(NEB):c.453T>C (p.Asp151=)
|
rs759482454
|
0.00001
|
NM_001164508.2(NEB):c.4555G>A (p.Asp1519Asn)
|
rs781655186
|
0.00001
|
NM_001164508.2(NEB):c.4596C>T (p.Ala1532=)
|
rs1258108366
|
0.00001
|
NM_001164508.2(NEB):c.4611+10T>C
|
rs1400897392
|
0.00001
|
NM_001164508.2(NEB):c.4653C>G (p.Gly1551=)
|
rs1471553322
|
0.00001
|
NM_001164508.2(NEB):c.4655A>G (p.Tyr1552Cys)
|
rs1257025966
|
0.00001
|
NM_001164508.2(NEB):c.4670A>G (p.Asp1557Gly)
|
rs774802662
|
0.00001
|
NM_001164508.2(NEB):c.4693A>G (p.Lys1565Glu)
|
rs767580883
|
0.00001
|
NM_001164508.2(NEB):c.4736C>A (p.Ala1579Asp)
|
rs751602407
|
0.00001
|
NM_001164508.2(NEB):c.4740C>T (p.Tyr1580=)
|
rs766168868
|
0.00001
|
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser)
|
rs772492791
|
0.00001
|
NM_001164508.2(NEB):c.4839G>A (p.Glu1613=)
|
rs762749537
|
0.00001
|
NM_001164508.2(NEB):c.4859C>T (p.Ala1620Val)
|
rs2099215851
|
0.00001
|
NM_001164508.2(NEB):c.4877A>G (p.His1626Arg)
|
rs1374856817
|
0.00001
|
NM_001164508.2(NEB):c.4894G>A (p.Val1632Ile)
|
rs1575593044
|
0.00001
|
NM_001164508.2(NEB):c.4896C>G (p.Val1632=)
|
rs373861490
|
0.00001
|
NM_001164508.2(NEB):c.4939G>A (p.Ala1647Thr)
|
rs566604130
|
0.00001
|
NM_001164508.2(NEB):c.4941C>T (p.Ala1647=)
|
rs936549495
|
0.00001
|
NM_001164508.2(NEB):c.4958A>G (p.Tyr1653Cys)
|
rs921123148
|
0.00001
|
NM_001164508.2(NEB):c.4968C>T (p.Tyr1656=)
|
rs766716265
|
0.00001
|
NM_001164508.2(NEB):c.4983T>C (p.Asp1661=)
|
rs1420378434
|
0.00001
|
NM_001164508.2(NEB):c.5032-20T>A
|
rs775020469
|
0.00001
|
NM_001164508.2(NEB):c.5049C>G (p.Asp1683Glu)
|
rs777670525
|
0.00001
|
NM_001164508.2(NEB):c.5056A>G (p.Asn1686Asp)
|
rs369533357
|
0.00001
|
NM_001164508.2(NEB):c.508-6G>C
|
rs374227241
|
0.00001
|
NM_001164508.2(NEB):c.5087T>C (p.Ile1696Thr)
|
rs937014596
|
0.00001
|
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp)
|
rs1349969572
|
0.00001
|
NM_001164508.2(NEB):c.5123G>A (p.Gly1708Glu)
|
rs971655417
|
0.00001
|
NM_001164508.2(NEB):c.5184C>T (p.Ala1728=)
|
rs756600687
|
0.00001
|
NM_001164508.2(NEB):c.5239-6T>C
|
rs1390540636
|
0.00001
|
NM_001164508.2(NEB):c.5326C>A (p.Gln1776Lys)
|
rs1306269352
|
0.00001
|
NM_001164508.2(NEB):c.533A>G (p.Asp178Gly)
|
rs779306921
|
0.00001
|
NM_001164508.2(NEB):c.5344-1G>C
|
rs1197561990
|
0.00001
|
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu)
|
rs541641039
|
0.00001
|
NM_001164508.2(NEB):c.5382A>G (p.Lys1794=)
|
rs2099187809
|
0.00001
|
NM_001164508.2(NEB):c.53T>C (p.Val18Ala)
|
rs781637539
|
0.00001
|
NM_001164508.2(NEB):c.5403T>C (p.Asp1801=)
|
rs1485835913
|
0.00001
|
NM_001164508.2(NEB):c.5434A>G (p.Arg1812Gly)
|
rs1466182533
|
0.00001
|
NM_001164508.2(NEB):c.5452-10C>T
|
rs755973658
|
0.00001
|
NM_001164508.2(NEB):c.5469C>T (p.Ala1823=)
|
rs1558984420
|
0.00001
|
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp)
|
rs755791156
|
0.00001
|
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=)
|
rs201539560
|
0.00001
|
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter)
|
rs781185019
|
0.00001
|
NM_001164508.2(NEB):c.5577G>A (p.Lys1859=)
|
rs751519609
|
0.00001
|
NM_001164508.2(NEB):c.5579A>G (p.Lys1860Arg)
|
rs766275101
|
0.00001
|
NM_001164508.2(NEB):c.5649G>A (p.Lys1883=)
|
rs371670376
|
0.00001
|
NM_001164508.2(NEB):c.5652T>C (p.Ser1884=)
|
rs1296464678
|
0.00001
|
NM_001164508.2(NEB):c.5688G>T (p.Val1896=)
|
rs766626019
|
0.00001
|
NM_001164508.2(NEB):c.5709T>C (p.Leu1903=)
|
rs1472831605
|
0.00001
|
NM_001164508.2(NEB):c.5761G>T (p.Asp1921Tyr)
|
rs763408172
|
0.00001
|
NM_001164508.2(NEB):c.5763+5G>A
|
rs776167256
|
0.00001
|
NM_001164508.2(NEB):c.5768A>G (p.Gln1923Arg)
|
rs755003638
|
0.00001
|
NM_001164508.2(NEB):c.576T>C (p.Leu192=)
|
rs755554259
|
0.00001
|
NM_001164508.2(NEB):c.5781C>T (p.Asp1927=)
|
rs369420467
|
0.00001
|
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp)
|
rs763717355
|
0.00001
|
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter)
|
rs1032240985
|
0.00001
|
NM_001164508.2(NEB):c.5827C>T (p.Leu1943=)
|
rs773023806
|
0.00001
|
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=)
|
rs757546480
|
0.00001
|
NM_001164508.2(NEB):c.5866A>C (p.Ser1956Arg)
|
rs1258945263
|
0.00001
|
NM_001164508.2(NEB):c.5912C>T (p.Thr1971Ile)
|
rs762592136
|
0.00001
|
NM_001164508.2(NEB):c.5916C>T (p.Leu1972=)
|
rs760841004
|
0.00001
|
NM_001164508.2(NEB):c.5972A>G (p.His1991Arg)
|
rs750070644
|
0.00001
|
NM_001164508.2(NEB):c.597C>T (p.Thr199=)
|
rs762852030
|
0.00001
|
NM_001164508.2(NEB):c.600C>T (p.Ala200=)
|
rs760791605
|
0.00001
|
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr)
|
rs199862790
|
0.00001
|
NM_001164508.2(NEB):c.6033C>T (p.Pro2011=)
|
rs773482640
|
0.00001
|
NM_001164508.2(NEB):c.6043T>C (p.Leu2015=)
|
rs748458556
|
0.00001
|
NM_001164508.2(NEB):c.6066T>C (p.Asn2022=)
|
rs1403762968
|
0.00001
|
NM_001164508.2(NEB):c.6076-1G>T
|
rs1553469502
|
0.00001
|
NM_001164508.2(NEB):c.6117C>A (p.Gly2039=)
|
rs1230322271
|
0.00001
|
NM_001164508.2(NEB):c.6219G>A (p.Gly2073=)
|
rs960591817
|
0.00001
|
NM_001164508.2(NEB):c.6227T>A (p.Val2076Asp)
|
rs1031350120
|
0.00001
|
NM_001164508.2(NEB):c.6235C>T (p.Arg2079Cys)
|
rs753064438
|
0.00001
|
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile)
|
rs747729019
|
0.00001
|
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp)
|
rs756398214
|
0.00001
|
NM_001164508.2(NEB):c.6318T>C (p.Tyr2106=)
|
rs766947078
|
0.00001
|
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr)
|
rs756130763
|
0.00001
|
NM_001164508.2(NEB):c.6389C>A (p.Ala2130Asp)
|
rs185740450
|
0.00001
|
NM_001164508.2(NEB):c.6417C>T (p.His2139=)
|
rs750952879
|
0.00001
|
NM_001164508.2(NEB):c.6432C>T (p.Tyr2144=)
|
rs764868660
|
0.00001
|
NM_001164508.2(NEB):c.6447T>C (p.Asp2149=)
|
rs760492368
|
0.00001
|
NM_001164508.2(NEB):c.6468C>G (p.Thr2156=)
|
rs939177563
|
0.00001
|
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser)
|
rs774148469
|
0.00001
|
NM_001164508.2(NEB):c.6489G>A (p.Gln2163=)
|
rs747215131
|
0.00001
|
NM_001164508.2(NEB):c.6496-7T>C
|
rs760365522
|
0.00001
|
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu)
|
rs752328965
|
0.00001
|
NM_001164508.2(NEB):c.6523T>C (p.Trp2175Arg)
|
rs1003397118
|
0.00001
|
NM_001164508.2(NEB):c.6526T>G (p.Tyr2176Asp)
|
rs776624491
|
0.00001
|
NM_001164508.2(NEB):c.652T>G (p.Phe218Val)
|
rs1347757687
|
0.00001
|
NM_001164508.2(NEB):c.6530A>G (p.Lys2177Arg)
|
rs768844040
|
0.00001
|
NM_001164508.2(NEB):c.6559C>T (p.Leu2187=)
|
rs369413888
|
0.00001
|
NM_001164508.2(NEB):c.6622C>T (p.Pro2208Ser)
|
rs1369530664
|
0.00001
|
NM_001164508.2(NEB):c.6646C>T (p.Leu2216=)
|
rs779191300
|
0.00001
|
NM_001164508.2(NEB):c.6664A>G (p.Met2222Val)
|
rs201167928
|
0.00001
|
NM_001164508.2(NEB):c.66G>A (p.Glu22=)
|
rs779531608
|
0.00001
|
NM_001164508.2(NEB):c.6702+8G>A
|
rs780650914
|
0.00001
|
NM_001164508.2(NEB):c.6732T>G (p.Asp2244Glu)
|
rs765096308
|
0.00001
|
NM_001164508.2(NEB):c.6759T>C (p.Asp2253=)
|
rs1447374947
|
0.00001
|
NM_001164508.2(NEB):c.6767A>G (p.Asp2256Gly)
|
rs373713314
|
0.00001
|
NM_001164508.2(NEB):c.6795A>G (p.Thr2265=)
|
rs777055902
|
0.00001
|
NM_001164508.2(NEB):c.6806A>G (p.Gln2269Arg)
|
rs768068829
|
0.00001
|
NM_001164508.2(NEB):c.6808-5T>C
|
rs887525004
|
0.00001
|
NM_001164508.2(NEB):c.6815A>G (p.Tyr2272Cys)
|
rs762107662
|
0.00001
|
NM_001164508.2(NEB):c.6822T>G (p.Leu2274=)
|
rs1002275178
|
0.00001
|
NM_001164508.2(NEB):c.6840G>A (p.Leu2280=)
|
rs771466059
|
0.00001
|
NM_001164508.2(NEB):c.6851A>G (p.Tyr2284Cys)
|
rs778637750
|
0.00001
|
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr)
|
rs777601721
|
0.00001
|
NM_001164508.2(NEB):c.6869C>T (p.Ala2290Val)
|
rs756114192
|
0.00001
|
NM_001164508.2(NEB):c.6876T>C (p.Ser2292=)
|
rs1307944333
|
0.00001
|
NM_001164508.2(NEB):c.6882G>A (p.Gln2294=)
|
rs780247638
|
0.00001
|
NM_001164508.2(NEB):c.6933C>T (p.Gly2311=)
|
rs1156601950
|
0.00001
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
NM_001164508.2(NEB):c.6968G>A (p.Arg2323Gln)
|
rs369456343
|
0.00001
|
NM_001164508.2(NEB):c.6986C>T (p.Pro2329Leu)
|
rs201154794
|
0.00001
|
NM_001164508.2(NEB):c.6987A>G (p.Pro2329=)
|
rs2099021147
|
0.00001
|
NM_001164508.2(NEB):c.6994G>C (p.Val2332Leu)
|
rs1281747723
|
0.00001
|
NM_001164508.2(NEB):c.6A>T (p.Ala2=)
|
rs778187569
|
0.00001
|
NM_001164508.2(NEB):c.7016A>G (p.Lys2339Arg)
|
rs1452924362
|
0.00001
|
NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile)
|
rs372132667
|
0.00001
|
NM_001164508.2(NEB):c.7041G>A (p.Lys2347=)
|
rs768624001
|
0.00001
|
NM_001164508.2(NEB):c.7090T>C (p.Leu2364=)
|
rs2099020733
|
0.00001
|
NM_001164508.2(NEB):c.7123T>C (p.Leu2375=)
|
rs373895191
|
0.00001
|
NM_001164508.2(NEB):c.718-6C>T
|
rs371791129
|
0.00001
|
NM_001164508.2(NEB):c.7209T>A (p.Val2403=)
|
rs778083630
|
0.00001
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
NM_001164508.2(NEB):c.7228-5C>T
|
rs773213959
|
0.00001
|
NM_001164508.2(NEB):c.7245C>T (p.Asp2415=)
|
rs769167022
|
0.00001
|
NM_001164508.2(NEB):c.7248T>C (p.Leu2416=)
|
rs1313347497
|
0.00001
|
NM_001164508.2(NEB):c.7273A>T (p.Ser2425Cys)
|
rs758881101
|
0.00001
|
NM_001164508.2(NEB):c.7316C>T (p.Ser2439Leu)
|
rs774282909
|
0.00001
|
NM_001164508.2(NEB):c.7350T>C (p.Pro2450=)
|
rs2099016597
|
0.00001
|
NM_001164508.2(NEB):c.7353A>C (p.Pro2451=)
|
rs747213004
|
0.00001
|
NM_001164508.2(NEB):c.7374C>T (p.Ser2458=)
|
rs1318587515
|
0.00001
|
NM_001164508.2(NEB):c.7385C>G (p.Ala2462Gly)
|
rs1377026295
|
0.00001
|
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr)
|
rs571451076
|
0.00001
|
NM_001164508.2(NEB):c.7421A>G (p.Asn2474Ser)
|
rs776901478
|
0.00001
|
NM_001164508.2(NEB):c.7435C>T (p.Leu2479Phe)
|
rs1426898110
|
0.00001
|
NM_001164508.2(NEB):c.7437T>G (p.Leu2479=)
|
rs2098955228
|
0.00001
|
NM_001164508.2(NEB):c.7455C>T (p.Asp2485=)
|
rs1252087959
|
0.00001
|
NM_001164508.2(NEB):c.7465A>G (p.Thr2489Ala)
|
rs1321334284
|
0.00001
|
NM_001164508.2(NEB):c.7473C>A (p.Ile2491=)
|
rs760783298
|
0.00001
|
NM_001164508.2(NEB):c.7537-5A>T
|
rs1364472047
|
0.00001
|
NM_001164508.2(NEB):c.7547G>A (p.Arg2516Gln)
|
rs753647278
|
0.00001
|
NM_001164508.2(NEB):c.7610A>C (p.Lys2537Thr)
|
rs375216853
|
0.00001
|
NM_001164508.2(NEB):c.761C>T (p.Thr254Met)
|
rs376835458
|
0.00001
|
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln)
|
rs758589097
|
0.00001
|
NM_001164508.2(NEB):c.7644+10T>C
|
rs765507331
|
0.00001
|
NM_001164508.2(NEB):c.7645-7T>C
|
rs2098922735
|
0.00001
|
NM_001164508.2(NEB):c.7661G>A (p.Gly2554Asp)
|
rs770338556
|
0.00001
|
NM_001164508.2(NEB):c.7691G>T (p.Gly2564Val)
|
rs1334008702
|
0.00001
|
NM_001164508.2(NEB):c.7704T>C (p.Ile2568=)
|
rs1441930348
|
0.00001
|
NM_001164508.2(NEB):c.7722G>T (p.Met2574Ile)
|
rs748066063
|
0.00001
|
NM_001164508.2(NEB):c.7767C>T (p.Tyr2589=)
|
rs759056844
|
0.00001
|
NM_001164508.2(NEB):c.7788G>T (p.Trp2596Cys)
|
rs377602828
|
0.00001
|
NM_001164508.2(NEB):c.78+1G>A
|
rs778593702
|
0.00001
|
NM_001164508.2(NEB):c.7833G>A (p.Leu2611=)
|
rs745898708
|
0.00001
|
NM_001164508.2(NEB):c.7834G>A (p.Ala2612Thr)
|
rs779023599
|
0.00001
|
NM_001164508.2(NEB):c.7854A>G (p.Leu2618=)
|
rs370074798
|
0.00001
|
NM_001164508.2(NEB):c.7863C>T (p.Asp2621=)
|
rs1419803549
|
0.00001
|
NM_001164508.2(NEB):c.7881C>T (p.Tyr2627=)
|
rs761549144
|
0.00001
|
NM_001164508.2(NEB):c.7908C>T (p.Asp2636=)
|
rs774348830
|
0.00001
|
NM_001164508.2(NEB):c.7911G>C (p.Gln2637His)
|
rs771035225
|
0.00001
|
NM_001164508.2(NEB):c.7935G>A (p.Gln2645=)
|
rs1488960348
|
0.00001
|
NM_001164508.2(NEB):c.7956+18C>A
|
rs775427411
|
0.00001
|
NM_001164508.2(NEB):c.7971A>C (p.Ser2657=)
|
rs778368661
|
0.00001
|
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys)
|
rs369224273
|
0.00001
|
NM_001164508.2(NEB):c.8031A>G (p.Lys2677=)
|
rs1417094848
|
0.00001
|
NM_001164508.2(NEB):c.8066T>C (p.Val2689Ala)
|
rs1241788939
|
0.00001
|
NM_001164508.2(NEB):c.8122A>G (p.Met2708Val)
|
rs752579656
|
0.00001
|
NM_001164508.2(NEB):c.8152A>T (p.Met2718Leu)
|
rs767511888
|
0.00001
|
NM_001164508.2(NEB):c.8161-7C>T
|
rs113643881
|
0.00001
|
NM_001164508.2(NEB):c.8162G>A (p.Arg2721His)
|
rs753996512
|
0.00001
|
NM_001164508.2(NEB):c.823-6T>C
|
rs2099741813
|
0.00001
|
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His)
|
rs548343514
|
0.00001
|
NM_001164508.2(NEB):c.8266-20A>C
|
rs1241056840
|
0.00001
|
NM_001164508.2(NEB):c.8266-7A>G
|
rs767688886
|
0.00001
|
NM_001164508.2(NEB):c.8372A>C (p.Glu2791Ala)
|
rs1414164577
|
0.00001
|
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574
|
0.00001
|
NM_001164508.2(NEB):c.8406C>T (p.Leu2802=)
|
rs377170982
|
0.00001
|
NM_001164508.2(NEB):c.8467G>A (p.Val2823Met)
|
rs757497327
|
0.00001
|
NM_001164508.2(NEB):c.8487C>T (p.Asp2829=)
|
rs1243027424
|
0.00001
|
NM_001164508.2(NEB):c.8514G>A (p.Lys2838=)
|
rs762688885
|
0.00001
|
NM_001164508.2(NEB):c.8537C>T (p.Pro2846Leu)
|
rs765207403
|
0.00001
|
NM_001164508.2(NEB):c.8545A>T (p.Met2849Leu)
|
rs764499750
|
0.00001
|
NM_001164508.2(NEB):c.8562G>A (p.Leu2854=)
|
rs1432111491
|
0.00001
|
NM_001164508.2(NEB):c.8571G>A (p.Lys2857=)
|
rs774580339
|
0.00001
|
NM_001164508.2(NEB):c.8601C>T (p.Tyr2867=)
|
rs1286220682
|
0.00001
|
NM_001164508.2(NEB):c.8634C>T (p.Pro2878=)
|
rs776571715
|
0.00001
|
NM_001164508.2(NEB):c.8688T>C (p.Asn2896=)
|
rs1193832355
|
0.00001
|
NM_001164508.2(NEB):c.8769G>A (p.Arg2923=)
|
rs768835450
|
0.00001
|
NM_001164508.2(NEB):c.8775T>C (p.Thr2925=)
|
rs761257246
|
0.00001
|
NM_001164508.2(NEB):c.877C>T (p.Pro293Ser)
|
rs200672688
|
0.00001
|
NM_001164508.2(NEB):c.8850A>G (p.Glu2950=)
|
rs1358258182
|
0.00001
|
NM_001164508.2(NEB):c.8857T>C (p.Leu2953=)
|
rs1472426256
|
0.00001
|
NM_001164508.2(NEB):c.8859G>A (p.Leu2953=)
|
rs753947526
|
0.00001
|
NM_001164508.2(NEB):c.885T>C (p.Phe295=)
|
rs1286722317
|
0.00001
|
NM_001164508.2(NEB):c.8862C>T (p.Ala2954=)
|
rs1487319364
|
0.00001
|
NM_001164508.2(NEB):c.8880T>C (p.Thr2960=)
|
rs770284551
|
0.00001
|
NM_001164508.2(NEB):c.8886C>T (p.Asn2962=)
|
rs772691488
|
0.00001
|
NM_001164508.2(NEB):c.8890-5G>T
|
rs754118814
|
0.00001
|
NM_001164508.2(NEB):c.8893T>C (p.Leu2965=)
|
rs1430569195
|
0.00001
|
NM_001164508.2(NEB):c.8943A>G (p.Pro2981=)
|
rs1308710342
|
0.00001
|
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=)
|
rs774786443
|
0.00001
|
NM_001164508.2(NEB):c.894A>G (p.Ala298=)
|
rs202159633
|
0.00001
|
NM_001164508.2(NEB):c.8A>G (p.Asp3Gly)
|
rs1245236784
|
0.00001
|
NM_001164508.2(NEB):c.9007C>G (p.Leu3003Val)
|
rs1415513452
|
0.00001
|
NM_001164508.2(NEB):c.901A>G (p.Arg301Gly)
|
rs756396449
|
0.00001
|
NM_001164508.2(NEB):c.9051C>T (p.Ser3017=)
|
rs777722290
|
0.00001
|
NM_001164508.2(NEB):c.9064A>G (p.Ile3022Val)
|
rs2098761523
|
0.00001
|
NM_001164508.2(NEB):c.9102+17A>G
|
rs775780099
|
0.00001
|
NM_001164508.2(NEB):c.9103-20T>C
|
rs747252722
|
0.00001
|
NM_001164508.2(NEB):c.9103-7A>G
|
rs776689414
|
0.00001
|
NM_001164508.2(NEB):c.9136G>T (p.Gly3046Cys)
|
rs1335899216
|
0.00001
|
NM_001164508.2(NEB):c.9196G>A (p.Val3066Ile)
|
rs755604172
|
0.00001
|
NM_001164508.2(NEB):c.9228A>G (p.Lys3076=)
|
rs766158874
|
0.00001
|
NM_001164508.2(NEB):c.9267A>G (p.Pro3089=)
|
rs1375156229
|
0.00001
|
NM_001164508.2(NEB):c.927+10G>A
|
rs1328277826
|
0.00001
|
NM_001164508.2(NEB):c.928-1G>A
|
rs1162553327
|
0.00001
|
NM_001164508.2(NEB):c.928-8T>C
|
rs1264161666
|
0.00001
|
NM_001164508.2(NEB):c.9289C>T (p.Leu3097=)
|
rs772392292
|
0.00001
|
NM_001164508.2(NEB):c.9309C>A (p.Thr3103=)
|
rs1042135615
|
0.00001
|
NM_001164508.2(NEB):c.9318T>C (p.Ser3106=)
|
rs1269187999
|
0.00001
|
NM_001164508.2(NEB):c.9321C>T (p.Asp3107=)
|
rs749837540
|
0.00001
|
NM_001164508.2(NEB):c.9329A>G (p.Tyr3110Cys)
|
rs778306283
|
0.00001
|
NM_001164508.2(NEB):c.9342G>A (p.Leu3114=)
|
rs1158802718
|
0.00001
|
NM_001164508.2(NEB):c.934T>C (p.Tyr312His)
|
rs1031048700
|
0.00001
|
NM_001164508.2(NEB):c.9372C>T (p.Ser3124=)
|
rs768098141
|
0.00001
|
NM_001164508.2(NEB):c.9375T>C (p.Asp3125=)
|
rs1006737950
|
0.00001
|
NM_001164508.2(NEB):c.9381C>A (p.Ile3127=)
|
rs2098709812
|
0.00001
|
NM_001164508.2(NEB):c.9414+10G>A
|
rs1175931667
|
0.00001
|
NM_001164508.2(NEB):c.9414+13T>C
|
rs1315167999
|
0.00001
|
NM_001164508.2(NEB):c.9414+1G>T
|
rs1255445731
|
0.00001
|
NM_001164508.2(NEB):c.9415-5C>T
|
rs776956299
|
0.00001
|
NM_001164508.2(NEB):c.9419T>C (p.Ile3140Thr)
|
rs774964206
|
0.00001
|
NM_001164508.2(NEB):c.9425A>G (p.Lys3142Arg)
|
rs771774138
|
0.00001
|
NM_001164508.2(NEB):c.9465C>G (p.Pro3155=)
|
rs1021985219
|
0.00001
|
NM_001164508.2(NEB):c.9483G>A (p.Val3161=)
|
rs1369814853
|
0.00001
|
NM_001164508.2(NEB):c.9504C>T (p.Thr3168=)
|
rs770587751
|
0.00001
|
NM_001164508.2(NEB):c.9517G>A (p.Asp3173Asn)
|
rs376224722
|
0.00001
|
NM_001164508.2(NEB):c.9535C>A (p.Pro3179Thr)
|
rs754263826
|
0.00001
|
NM_001164508.2(NEB):c.9540G>A (p.Pro3180=)
|
rs373833313
|
0.00001
|
NM_001164508.2(NEB):c.9568G>T (p.Asp3190Tyr)
|
rs781238222
|
0.00001
|
NM_001164508.2(NEB):c.9591C>T (p.Ala3197=)
|
rs1452295483
|
0.00001
|
NM_001164508.2(NEB):c.95A>G (p.Tyr32Cys)
|
rs193227711
|
0.00001
|
NM_001164508.2(NEB):c.9619-3T>C
|
rs756309002
|
0.00001
|
NM_001164508.2(NEB):c.9624A>G (p.Leu3208=)
|
rs1309537285
|
0.00001
|
NM_001164508.2(NEB):c.966G>T (p.Gln322His)
|
rs757803976
|
0.00001
|
NM_001164508.2(NEB):c.9689T>C (p.Met3230Thr)
|
rs760551196
|
0.00001
|
NM_001164508.2(NEB):c.9694G>T (p.Ala3232Ser)
|
rs1329330602
|
0.00001
|
NM_001164508.2(NEB):c.9723+7G>A
|
rs557480322
|
0.00001
|
NM_001164508.2(NEB):c.9744T>C (p.Asn3248=)
|
rs1386728979
|
0.00001
|
NM_001164508.2(NEB):c.9767A>G (p.Tyr3256Cys)
|
rs1365723573
|
0.00001
|
NM_001164508.2(NEB):c.9771C>T (p.Asp3257=)
|
rs772708316
|
0.00001
|
NM_001164508.2(NEB):c.9783C>T (p.Asp3261=)
|
rs756787775
|
0.00001
|
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met)
|
rs564504601
|
0.00001
|
NM_001164508.2(NEB):c.9810C>T (p.Ala3270=)
|
rs1170138596
|
0.00001
|
NM_001164508.2(NEB):c.9819C>T (p.Asp3273=)
|
rs776553132
|
0.00001
|
NM_001164508.2(NEB):c.9831+7A>G
|
rs2098613210
|
0.00001
|
NM_001164508.2(NEB):c.9834C>T (p.Tyr3278=)
|
rs1230248586
|
0.00001
|
NM_001164508.2(NEB):c.9848G>A (p.Gly3283Asp)
|
rs2098553051
|
0.00001
|
NM_001164508.2(NEB):c.9858G>A (p.Lys3286=)
|
rs1387341215
|
0.00001
|
NM_001164508.2(NEB):c.9873C>T (p.His3291=)
|
rs2098552699
|
0.00001
|
NM_001164508.2(NEB):c.9884G>A (p.Arg3295Gln)
|
rs201965465
|
0.00001
|
NM_001164508.2(NEB):c.9888C>T (p.Asn3296=)
|
rs1265139095
|
0.00001
|
NM_001164508.2(NEB):c.9890T>C (p.Ile3297Thr)
|
rs1323917769
|
0.00001
|
NM_001164508.2(NEB):c.9924T>C (p.His3308=)
|
rs752801727
|
0.00001
|
NM_001164508.2(NEB):c.9964T>A (p.Phe3322Ile)
|
rs369385033
|
0.00001
|
NM_001164508.2(NEB):c.9986T>A (p.Phe3329Tyr)
|
rs776107526
|
0.00001
|
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
|
|
|
NC_000002.11:g.(?_152342274)_(152432888_?)dup
|
|
|
NC_000002.11:g.(?_152348187)_(152425896_?)dup
|
|
|
NC_000002.11:g.(?_152369227)_(152376302_?)del
|
|
|
NC_000002.11:g.(?_152380815)_(152384109_?)del
|
|
|
NC_000002.11:g.(?_152408232)_(152432888_?)del
|
|
|
NC_000002.11:g.(?_152417187)_(152418727_?)del
|
|
|
NC_000002.11:g.(?_152466303)_(152477560_?)dup
|
|
|
NC_000002.11:g.(?_152466303)_(152563531_?)del
|
|
|
NC_000002.11:g.(?_152466303)_(152955525_?)del
|
|
|
NC_000002.11:g.(?_152470770)_(152471121_?)del
|
|
|
NC_000002.11:g.(?_152470770)_(152554182_?)del
|
|
|
NC_000002.11:g.(?_152475955)_(152476286_?)del
|
|
|
NC_000002.11:g.(?_152482028)_(152566297_?)del
|
|
|
NC_000002.11:g.(?_152482028)_(152567072_?)del
|
|
|
NC_000002.11:g.(?_152484352)_152490482del
|
|
|
NC_000002.11:g.(?_152499078)_(152500653_?)del
|
|
|
NC_000002.11:g.(?_152506680)_(152507409_?)del
|
|
|
NC_000002.11:g.(?_152506680)_(152510623_?)del
|
|
|
NC_000002.11:g.(?_152524298)_(152525665_?)del
|
|
|
NC_000002.11:g.(?_152539156)_(152539303_?)del
|
|
|
NC_000002.11:g.(?_152541945)_(152544191_?)del
|
|
|
NC_000002.11:g.(?_152579876)_(152589670_?)del
|
|
|
NC_000002.12:g.(?_151485750)_(151957616_?)del
|
|
|
NC_000002.12:g.(?_151496266)_(151497728_?)del
|
|
|
NC_000002.12:g.(?_151496921)_(151497053_?)del
|
|
|
NC_000002.12:g.(?_151496921)_(151497738_?)del
|
|
|
NC_000002.12:g.(?_151496931)_(151497043_?)del
|
|
|
NC_000002.12:g.(?_151614266)_(151697658_?)del
|
|
|
NC_000002.12:g.(?_151645758)_(151648259_?)del
|
|
|
NC_000002.12:g.(?_151646110)_(151646254_?)del
|
|
|
NC_000002.12:g.(?_151646120)_(151646244_?)del
|
|
|
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val)
|
rs1553255357
|
|
NM_001164507.2(NEB):c.21316A>G (p.Lys7106Glu)
|
rs2092606329
|
|
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter)
|
rs1553679273
|
|
NM_001164507.2(NEB):c.21327T>C (p.Ala7109=)
|
|
|
NM_001164507.2(NEB):c.21348T>C (p.Asp7116=)
|
|
|
NM_001164507.2(NEB):c.21348T>G (p.Asp7116Glu)
|
rs199934793
|
|
NM_001164507.2(NEB):c.21352T>C (p.Tyr7118His)
|
|
|
NM_001164507.2(NEB):c.21354C>T (p.Tyr7118=)
|
|
|
NM_001164507.2(NEB):c.21358del (p.Leu7120fs)
|
rs1553678967
|
|
NM_001164507.2(NEB):c.21372G>A (p.Glu7124=)
|
rs2153521425
|
|
NM_001164507.2(NEB):c.21375T>C (p.Pro7125=)
|
rs2153521407
|
|
NM_001164507.2(NEB):c.21375del (p.Arg7126fs)
|
|
|
NM_001164507.2(NEB):c.21381T>C (p.His7127=)
|
|
|
NM_001164507.2(NEB):c.21382C>T (p.Leu7128=)
|
rs2153521308
|
|
NM_001164507.2(NEB):c.21384G>C (p.Leu7128=)
|
|
|
NM_001164507.2(NEB):c.21393G>A (p.Lys7131=)
|
|
|
NM_001164507.2(NEB):c.21396C>A (p.Thr7132=)
|
rs759637718
|
|
NM_001164507.2(NEB):c.21396C>G (p.Thr7132=)
|
rs759637718
|
|
NM_001164507.2(NEB):c.21397G>A (p.Ala7133Thr)
|
|
|
NM_001164507.2(NEB):c.21397G>T (p.Ala7133Ser)
|
rs988993094
|
|
NM_001164507.2(NEB):c.21403G>A (p.Asp7135Asn)
|
|
|
NM_001164507.2(NEB):c.21406C>T (p.Gln7136Ter)
|
rs2153521056
|
|
NM_001164507.2(NEB):c.21408G>A (p.Gln7136=)
|
|
|
NM_001164508.2(NEB):c.*316C>T
|
rs2049611427
|
|
NM_001164508.2(NEB):c.10007T>C (p.Leu3336Pro)
|
rs1392434296
|
|
NM_001164508.2(NEB):c.10008G>C (p.Leu3336=)
|
rs1305733827
|
|
NM_001164508.2(NEB):c.10011A>G (p.Gly3337=)
|
|
|
NM_001164508.2(NEB):c.10012G>A (p.Val3338Met)
|
rs534475193
|
|
NM_001164508.2(NEB):c.10015G>T (p.Val3339Leu)
|
|
|
NM_001164508.2(NEB):c.10021G>T (p.Ala3341Ser)
|
rs1574279999
|
|
NM_001164508.2(NEB):c.10023C>T (p.Ala3341=)
|
|
|
NM_001164508.2(NEB):c.10026_10027insTG (p.Lys3343Ter)
|
|
|
NM_001164508.2(NEB):c.10036A>G (p.Thr3346Ala)
|
rs2098550963
|
|
NM_001164508.2(NEB):c.10038C>T (p.Thr3346=)
|
|
|
NM_001164508.2(NEB):c.10044C>T (p.Val3348=)
|
|
|
NM_001164508.2(NEB):c.10047C>T (p.Ser3349=)
|
rs763268909
|
|
NM_001164508.2(NEB):c.10048G>A (p.Asp3350Asn)
|
rs377180119
|
|
NM_001164508.2(NEB):c.1004T>A (p.Met335Lys)
|
|
|
NM_001164508.2(NEB):c.10054_10055delinsT (p.Asp3352fs)
|
|
|
NM_001164508.2(NEB):c.10056C>G (p.Asp3352Glu)
|
|
|
NM_001164508.2(NEB):c.10058A>G (p.Tyr3353Cys)
|
|
|
NM_001164508.2(NEB):c.10059C>T (p.Tyr3353=)
|
|
|
NM_001164508.2(NEB):c.10061A>G (p.Lys3354Arg)
|
|
|
NM_001164508.2(NEB):c.10065C>T (p.Asn3355=)
|
|
|
NM_001164508.2(NEB):c.10069C>T (p.Leu3357=)
|
|
|
NM_001164508.2(NEB):c.1006_1018del (p.Asn336fs)
|
rs2099738446
|
|
NM_001164508.2(NEB):c.10071G>A (p.Leu3357=)
|
|
|
NM_001164508.2(NEB):c.10080G>T (p.Trp3360Cys)
|
rs1574278301
|
|
NM_001164508.2(NEB):c.10083G>C (p.Thr3361=)
|
rs778762176
|
|
NM_001164508.2(NEB):c.10086C>T (p.Cys3362=)
|
rs1560627086
|
|
NM_001164508.2(NEB):c.10087C>A (p.Leu3363Met)
|
rs2098550303
|
|
NM_001164508.2(NEB):c.10087C>T (p.Leu3363=)
|
rs2098550303
|
|
NM_001164508.2(NEB):c.10101T>C (p.Asn3367=)
|
rs755069446
|
|
NM_001164508.2(NEB):c.10104T>C (p.Asp3368=)
|
|
|
NM_001164508.2(NEB):c.10119G>T (p.Arg3373=)
|
rs2154060193
|
|
NM_001164508.2(NEB):c.10125C>G (p.Ala3375=)
|
|
|
NM_001164508.2(NEB):c.10143+16C>T
|
|
|
NM_001164508.2(NEB):c.10143+18A>G
|
|
|
NM_001164508.2(NEB):c.10143+2T>G
|
|
|
NM_001164508.2(NEB):c.10143+5G>C
|
rs1158552388
|
|
NM_001164508.2(NEB):c.10143+7A>C
|
|
|
NM_001164508.2(NEB):c.10143+8A>G
|
rs2154060056
|
|
NM_001164508.2(NEB):c.10143+9_10143+12del
|
|
|
NM_001164508.2(NEB):c.10144-10_10144-7dup
|
rs2154058633
|
|
NM_001164508.2(NEB):c.10144-10_10144-9delinsG
|
rs1553928417
|
|
NM_001164508.2(NEB):c.10144-17GT[3]
|
|
|
NM_001164508.2(NEB):c.10144-17_10144-9dup
|
rs1574263120
|
|
NM_001164508.2(NEB):c.10144-2A>G
|
rs1435980710
|
|
NM_001164508.2(NEB):c.10144-6C>T
|
rs2154058627
|
|
NM_001164508.2(NEB):c.10144-7_10144-4del
|
rs764505319
|
|
NM_001164508.2(NEB):c.10144-7_10144-5del
|
rs2154058615
|
|
NM_001164508.2(NEB):c.10144-8C>A
|
|
|
NM_001164508.2(NEB):c.10146C>T (p.Asn3382=)
|
|
|
NM_001164508.2(NEB):c.1014A>G (p.Lys338=)
|
|
|
NM_001164508.2(NEB):c.10152C>A (p.Tyr3384Ter)
|
|
|
NM_001164508.2(NEB):c.10154A>T (p.Lys3385Ile)
|
|
|
NM_001164508.2(NEB):c.10155A>G (p.Lys3385=)
|
|
|
NM_001164508.2(NEB):c.10161T>C (p.Asp3387=)
|
|
|
NM_001164508.2(NEB):c.10164C>T (p.Leu3388=)
|
rs2154058483
|
|
NM_001164508.2(NEB):c.10165C>T (p.Gln3389Ter)
|
|
|
NM_001164508.2(NEB):c.10167G>A (p.Gln3389=)
|
|
|
NM_001164508.2(NEB):c.10169_10170insCT (p.Trp3390fs)
|
|
|
NM_001164508.2(NEB):c.1016C>T (p.Ala339Val)
|
|
|
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)
|
|
|
NM_001164508.2(NEB):c.1017T>C (p.Ala339=)
|
|
|
NM_001164508.2(NEB):c.10185C>T (p.Gly3395=)
|
|
|
NM_001164508.2(NEB):c.10194C>T (p.Pro3398=)
|
|
|
NM_001164508.2(NEB):c.1019_1020insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGG (p.Val341fs)
|
|
|
NM_001164508.2(NEB):c.10211T>G (p.Val3404Gly)
|
rs2154058359
|
|
NM_001164508.2(NEB):c.10211_10212insCTAC (p.Val3405fs)
|
|
|
NM_001164508.2(NEB):c.10212G>A (p.Val3404=)
|
|
|
NM_001164508.2(NEB):c.10213G>T (p.Val3405Phe)
|
rs1553927988
|
|
NM_001164508.2(NEB):c.10217A>G (p.Lys3406Arg)
|
rs1574259964
|
|
NM_001164508.2(NEB):c.10222A>T (p.Lys3408Ter)
|
|
|
NM_001164508.2(NEB):c.10228G>A (p.Ala3410Thr)
|
rs1298375132
|
|
NM_001164508.2(NEB):c.10231G>T (p.Ala3411Ser)
|
rs727504034
|
|
NM_001164508.2(NEB):c.10234G>T (p.Glu3412Ter)
|
|
|
NM_001164508.2(NEB):c.10240C>T (p.Leu3414=)
|
|
|
NM_001164508.2(NEB):c.10242G>A (p.Leu3414=)
|
rs775450019
|
|
NM_001164508.2(NEB):c.10242G>C (p.Leu3414=)
|
rs775450019
|
|
NM_001164508.2(NEB):c.10254C>T (p.Ile3418=)
|
rs772147172
|
|
NM_001164508.2(NEB):c.10255_10256insGTCTCTTA (p.Tyr3419fs)
|
|
|
NM_001164508.2(NEB):c.10259G>A (p.Arg3420His)
|
|
|
NM_001164508.2(NEB):c.10266T>C (p.Pro3422=)
|
|
|
NM_001164508.2(NEB):c.10275G>A (p.Lys3425=)
|
rs1205545857
|
|
NM_001164508.2(NEB):c.10287C>T (p.Thr3429=)
|
|
|
NM_001164508.2(NEB):c.10289G>A (p.Ser3430Asn)
|
rs1370385550
|
|
NM_001164508.2(NEB):c.10299C>T (p.Asp3433=)
|
rs180847025
|
|
NM_001164508.2(NEB):c.10302T>A (p.Ser3434=)
|
rs776667734
|
|
NM_001164508.2(NEB):c.10302T>G (p.Ser3434=)
|
|
|
NM_001164508.2(NEB):c.10303C>G (p.Leu3435Val)
|
rs768451216
|
|
NM_001164508.2(NEB):c.10308G>A (p.Glu3436=)
|
|
|
NM_001164508.2(NEB):c.10314G>T (p.Val3438=)
|
|
|
NM_001164508.2(NEB):c.10316T>C (p.Leu3439Pro)
|
rs2154058008
|
|
NM_001164508.2(NEB):c.10317G>A (p.Leu3439=)
|
|
|
NM_001164508.2(NEB):c.1031G>A (p.Ser344Asn)
|
rs1224318643
|
|
NM_001164508.2(NEB):c.10323G>A (p.Lys3441=)
|
rs1574255880
|
|
NM_001164508.2(NEB):c.10326C>G (p.Asn3442Lys)
|
|
|
NM_001164508.2(NEB):c.1032C>T (p.Ser344=)
|
|
|
NM_001164508.2(NEB):c.10332T>G (p.Ala3444=)
|
rs2154057946
|
|
NM_001164508.2(NEB):c.10335C>A (p.Leu3445=)
|
|
|
NM_001164508.2(NEB):c.10335C>T (p.Leu3445=)
|
rs188127282
|
|
NM_001164508.2(NEB):c.10347+11A>G
|
|
|
NM_001164508.2(NEB):c.10347+12A>G
|
|
|
NM_001164508.2(NEB):c.10347+16G>A
|
|
|
NM_001164508.2(NEB):c.10347+20G>A
|
|
|
NM_001164508.2(NEB):c.10347+20G>C
|
|
|
NM_001164508.2(NEB):c.10347+3G>A
|
rs1226603362
|
|
NM_001164508.2(NEB):c.10347+9C>T
|
rs2154057810
|
|
NM_001164508.2(NEB):c.10347G>A (p.Lys3449=)
|
rs1051033510
|
|
NM_001164508.2(NEB):c.10348-11A>G
|
|
|
NM_001164508.2(NEB):c.10348-17C>T
|
|
|
NM_001164508.2(NEB):c.10348-6T>A
|
|
|
NM_001164508.2(NEB):c.10349G>A (p.Arg3450His)
|
|
|
NM_001164508.2(NEB):c.1035+11A>G
|
|
|
NM_001164508.2(NEB):c.1035+15T>C
|
|
|
NM_001164508.2(NEB):c.1035+6A>G
|
rs1577251081
|
|
NM_001164508.2(NEB):c.10353A>T (p.Leu3451Phe)
|
|
|
NM_001164508.2(NEB):c.10358C>A (p.Thr3453Lys)
|
rs781408732
|
|
NM_001164508.2(NEB):c.10358C>G (p.Thr3453Arg)
|
|
|
NM_001164508.2(NEB):c.10359A>G (p.Thr3453=)
|
|
|
NM_001164508.2(NEB):c.1036-12T>G
|
|
|
NM_001164508.2(NEB):c.1036-15A>C
|
|
|
NM_001164508.2(NEB):c.1036-16T>C
|
|
|
NM_001164508.2(NEB):c.1036-4A>G
|
|
|
NM_001164508.2(NEB):c.1036-6C>A
|
|
|
NM_001164508.2(NEB):c.1036-8T>C
|
|
|
NM_001164508.2(NEB):c.1036-9C>T
|
rs773220407
|
|
NM_001164508.2(NEB):c.10369G>A (p.Asp3457Asn)
|
rs1319060772
|
|
NM_001164508.2(NEB):c.10373A>C (p.Lys3458Thr)
|
|
|
NM_001164508.2(NEB):c.10381A>G (p.Thr3461Ala)
|
|
|
NM_001164508.2(NEB):c.10387G>A (p.Val3463Ile)
|
|
|
NM_001164508.2(NEB):c.10389C>T (p.Val3463=)
|
rs2154052041
|
|
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val)
|
rs535926481
|
|
NM_001164508.2(NEB):c.10395T>C (p.Ile3465=)
|
rs756852049
|
|
NM_001164508.2(NEB):c.10411G>T (p.Glu3471Ter)
|
rs866949431
|
|
NM_001164508.2(NEB):c.10419G>T (p.Met3473Ile)
|
rs368842783
|
|
NM_001164508.2(NEB):c.10423G>T (p.Ala3475Ser)
|
rs2098506984
|
|
NM_001164508.2(NEB):c.10425A>T (p.Ala3475=)
|
|
|
NM_001164508.2(NEB):c.10433A>G (p.Asn3478Ser)
|
rs1246003078
|
|
NM_001164508.2(NEB):c.10433dup (p.Asn3478fs)
|
|
|
NM_001164508.2(NEB):c.10441_10445del (p.Ile3480_Asn3481insTer)
|
|
|
NM_001164508.2(NEB):c.10447A>G (p.Ser3483Gly)
|
|
|
NM_001164508.2(NEB):c.10452+14T>C
|
|
|
NM_001164508.2(NEB):c.10452+17T>C
|
|
|
NM_001164508.2(NEB):c.10452+3A>G
|
rs2154051876
|
|
NM_001164508.2(NEB):c.10452+7T>C
|
|
|
NM_001164508.2(NEB):c.10453-17A>C
|
rs2154027977
|
|
NM_001164508.2(NEB):c.10453-17A>G
|
|
|
NM_001164508.2(NEB):c.10453-20G>A
|
|
|
NM_001164508.2(NEB):c.10453-5C>T
|
rs2154027952
|
|
NM_001164508.2(NEB):c.10453-6C>T
|
|
|
NM_001164508.2(NEB):c.10453-7T>C
|
|
|
NM_001164508.2(NEB):c.10453A>T (p.Ser3485Cys)
|
rs2154027931
|
|
NM_001164508.2(NEB):c.10458C>G (p.Leu3486=)
|
|
|
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys)
|
rs765175171
|
|
NM_001164508.2(NEB):c.10465C>T (p.Gln3489Ter)
|
|
|
NM_001164508.2(NEB):c.10470C>T (p.Ala3490=)
|
|
|
NM_001164508.2(NEB):c.1047A>G (p.Lys349=)
|
rs2149873980
|
|
NM_001164508.2(NEB):c.10485G>A (p.Lys3495=)
|
|
|
NM_001164508.2(NEB):c.10488A>G (p.Lys3496=)
|
rs2154027847
|
|
NM_001164508.2(NEB):c.10493del (p.Gly3498fs)
|
rs1574014358
|
|
NM_001164508.2(NEB):c.10497del (p.Gly3498_Tyr3499insTer)
|
rs2154027821
|
|
NM_001164508.2(NEB):c.10503G>A (p.Leu3501=)
|
|
|
NM_001164508.2(NEB):c.10509T>C (p.Ser3503=)
|
|
|
NM_001164508.2(NEB):c.10511A>G (p.Asp3504Gly)
|
|
|
NM_001164508.2(NEB):c.10519C>T (p.Pro3507Ser)
|
|
|
NM_001164508.2(NEB):c.10521C>G (p.Pro3507=)
|
|
|
NM_001164508.2(NEB):c.10521C>T (p.Pro3507=)
|
|
|
NM_001164508.2(NEB):c.10524T>C (p.Ile3508=)
|
|
|
NM_001164508.2(NEB):c.10535A>G (p.Lys3512Arg)
|
|
|
NM_001164508.2(NEB):c.10537G>A (p.Ala3513Thr)
|
rs1560541262
|
|
NM_001164508.2(NEB):c.10539C>T (p.Ala3513=)
|
rs2154027747
|
|
NM_001164508.2(NEB):c.10543C>A (p.Arg3515=)
|
|
|
NM_001164508.2(NEB):c.10545G>A (p.Arg3515=)
|
|
|
NM_001164508.2(NEB):c.10545_10552del (p.Asp3516fs)
|
|
|
NM_001164508.2(NEB):c.10554C>A (p.Ala3518=)
|
|
|
NM_001164508.2(NEB):c.10560+10G>C
|
|
|
NM_001164508.2(NEB):c.10560+13C>G
|
|
|
NM_001164508.2(NEB):c.10560+15A>C
|
|
|
NM_001164508.2(NEB):c.10560+16G>C
|
|
|
NM_001164508.2(NEB):c.10560+17T>C
|
|
|
NM_001164508.2(NEB):c.10560+1G>A
|
rs1553915731
|
|
NM_001164508.2(NEB):c.10560+4A>G
|
|
|
NM_001164508.2(NEB):c.10560+7G>A
|
|
|
NM_001164508.2(NEB):c.10561-15G>T
|
|
|
NM_001164508.2(NEB):c.10561-17T>C
|
|
|
NM_001164508.2(NEB):c.10561-7C>T
|
|
|
NM_001164508.2(NEB):c.10561-9C>T
|
rs1573943509
|
|
NM_001164508.2(NEB):c.10563C>T (p.Tyr3521=)
|
rs2154022884
|
|
NM_001164508.2(NEB):c.10564A>C (p.Lys3522Gln)
|
|
|
NM_001164508.2(NEB):c.10566A>G (p.Lys3522=)
|
rs2098336632
|
|
NM_001164508.2(NEB):c.10578A>C (p.Ala3526=)
|
rs760118695
|
|
NM_001164508.2(NEB):c.10591T>C (p.Leu3531=)
|
rs2098336175
|
|
NM_001164508.2(NEB):c.10598_10599del (p.His3533fs)
|
|
|
NM_001164508.2(NEB):c.10598_10610del (p.His3533fs)
|
rs2154022757
|
|
NM_001164508.2(NEB):c.10599C>A (p.His3533Gln)
|
|
|
NM_001164508.2(NEB):c.10599C>T (p.His3533=)
|
|
|
NM_001164508.2(NEB):c.1059A>C (p.Glu353Asp)
|
|
|
NM_001164508.2(NEB):c.105G>T (p.Thr35=)
|
rs368075131
|
|
NM_001164508.2(NEB):c.10600C>T (p.His3534Tyr)
|
|
|
NM_001164508.2(NEB):c.10603A>T (p.Ile3535Phe)
|
|
|
NM_001164508.2(NEB):c.10611C>T (p.Ala3537=)
|
rs2154022749
|
|
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)
|
rs779909544
|
|
NM_001164508.2(NEB):c.10613G>A (p.Arg3538Gln)
|
|
|
NM_001164508.2(NEB):c.10613G>T (p.Arg3538Leu)
|
|
|
NM_001164508.2(NEB):c.10617A>G (p.Ala3539=)
|
|
|
NM_001164508.2(NEB):c.10624G>A (p.Asp3542Asn)
|
rs777939660
|
|
NM_001164508.2(NEB):c.10624G>C (p.Asp3542His)
|
|
|
NM_001164508.2(NEB):c.10626T>C (p.Asp3542=)
|
rs1560520848
|
|
NM_001164508.2(NEB):c.1063A>G (p.Asn355Asp)
|
|
|
NM_001164508.2(NEB):c.10650C>A (p.Leu3550=)
|
rs2154022652
|
|
NM_001164508.2(NEB):c.10650C>T (p.Leu3550=)
|
rs2154022652
|
|
NM_001164508.2(NEB):c.10654A>T (p.Ile3552Phe)
|
|
|
NM_001164508.2(NEB):c.10656T>A (p.Ile3552=)
|
|
|
NM_001164508.2(NEB):c.10657G>T (p.Ala3553Ser)
|
rs1372803594
|
|
NM_001164508.2(NEB):c.10660A>G (p.Lys3554Glu)
|
rs1553912139
|
|
NM_001164508.2(NEB):c.10662A>G (p.Lys3554=)
|
|
|
NM_001164508.2(NEB):c.10675C>G (p.Arg3559Gly)
|
rs751938843
|
|
NM_001164508.2(NEB):c.10687A>G (p.Lys3563Glu)
|
|
|
NM_001164508.2(NEB):c.10687A>T (p.Lys3563Ter)
|
rs1207279110
|
|
NM_001164508.2(NEB):c.1068_1096dup (p.Ala366fs)
|
|
|
NM_001164508.2(NEB):c.10706A>G (p.Lys3569Arg)
|
rs371572709
|
|
NM_001164508.2(NEB):c.10709C>T (p.Thr3570Ile)
|
|
|
NM_001164508.2(NEB):c.1070G>A (p.Gly357Glu)
|
rs1221725692
|
|
NM_001164508.2(NEB):c.10712G>A (p.Arg3571Lys)
|
rs761487598
|
|
NM_001164508.2(NEB):c.10722C>T (p.Ser3574=)
|
|
|
NM_001164508.2(NEB):c.10725A>G (p.Pro3575=)
|
|
|
NM_001164508.2(NEB):c.10738_10742del (p.Gly3580fs)
|
|
|
NM_001164508.2(NEB):c.1074A>G (p.Lys358=)
|
rs2099709094
|
|
NM_001164508.2(NEB):c.10767C>G (p.Thr3589=)
|
|
|
NM_001164508.2(NEB):c.10767C>T (p.Thr3589=)
|
|
|
NM_001164508.2(NEB):c.10779T>C (p.Asp3593=)
|
rs2154022301
|
|
NM_001164508.2(NEB):c.1077A>G (p.Ala359=)
|
|
|
NM_001164508.2(NEB):c.1077A>T (p.Ala359=)
|
|
|
NM_001164508.2(NEB):c.10782G>T (p.Val3594=)
|
|
|
NM_001164508.2(NEB):c.10783G>A (p.Asp3595Asn)
|
|
|
NM_001164508.2(NEB):c.10788T>C (p.Tyr3596=)
|
|
|
NM_001164508.2(NEB):c.10792C>T (p.His3598Tyr)
|
|
|
NM_001164508.2(NEB):c.10798C>T (p.Leu3600=)
|
rs2154022281
|
|
NM_001164508.2(NEB):c.10798del (p.Leu3600fs)
|
|
|
NM_001164508.2(NEB):c.107CAA[1] (p.Thr37del)
|
rs1553698850
|
|
NM_001164508.2(NEB):c.10800G>T (p.Leu3600=)
|
|
|
NM_001164508.2(NEB):c.10806A>G (p.Glu3602=)
|
rs763417230
|
|
NM_001164508.2(NEB):c.10807T>C (p.Trp3603Arg)
|
|
|
NM_001164508.2(NEB):c.10809G>A (p.Trp3603Ter)
|
rs10172023
|
|
NM_001164508.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal)
|
rs1573936944
|
|
NM_001164508.2(NEB):c.10815C>T (p.Cys3605=)
|
|
|
NM_001164508.2(NEB):c.10817T>C (p.Leu3606Pro)
|
|
|
NM_001164508.2(NEB):c.10817_10819del (p.Leu3606del)
|
rs1553911586
|
|
NM_001164508.2(NEB):c.10818G>A (p.Leu3606=)
|
|
|
NM_001164508.2(NEB):c.10819C>A (p.Pro3607Thr)
|
rs2098331597
|
|
NM_001164508.2(NEB):c.10821C>G (p.Pro3607=)
|
|
|
NM_001164508.2(NEB):c.10822G>A (p.Asp3608Asn)
|
|
|
NM_001164508.2(NEB):c.1082_1097del (p.Tyr361fs)
|
|
|
NM_001164508.2(NEB):c.10833CAT[1] (p.Ile3613del)
|
rs773748212
|
|
NM_001164508.2(NEB):c.1083T>A (p.Tyr361Ter)
|
rs2149872738
|
|
NM_001164508.2(NEB):c.10842T>C (p.His3614=)
|
rs2154022111
|
|
NM_001164508.2(NEB):c.10845A>C (p.Ala3615=)
|
|
|
NM_001164508.2(NEB):c.10845A>G (p.Ala3615=)
|
rs1461539455
|
|
NM_001164508.2(NEB):c.10851A>G (p.Lys3617=)
|
|
|
NM_001164508.2(NEB):c.10855T>C (p.Tyr3619His)
|
|
|
NM_001164508.2(NEB):c.10861C>G (p.Leu3621Val)
|
rs1573934764
|
|
NM_001164508.2(NEB):c.10870G>A (p.Asp3624Asn)
|
|
|
NM_001164508.2(NEB):c.10872+11T>G
|
|
|
NM_001164508.2(NEB):c.10872+12T>C
|
|
|
NM_001164508.2(NEB):c.10872+14A>G
|
|
|
NM_001164508.2(NEB):c.10872+14A>T
|
|
|
NM_001164508.2(NEB):c.10872+17T>C
|
rs1216757775
|
|
NM_001164508.2(NEB):c.10872+19A>G
|
|
|
NM_001164508.2(NEB):c.10872+1G>A
|
rs1336053002
|
|
NM_001164508.2(NEB):c.10872+1del
|
|
|
NM_001164508.2(NEB):c.10872+27A>C
|
rs10186656
|
|
NM_001164508.2(NEB):c.10872+2T>A
|
|
|
NM_001164508.2(NEB):c.10872+4A>G
|
|
|
NM_001164508.2(NEB):c.10872+8T>C
|
rs1406948370
|
|
NM_001164508.2(NEB):c.10872C>A (p.Asp3624Glu)
|
rs781328083
|
|
NM_001164508.2(NEB):c.10873-13T>C
|
|
|
NM_001164508.2(NEB):c.10873-13T>G
|
|
|
NM_001164508.2(NEB):c.10873-14C>G
|
|
|
NM_001164508.2(NEB):c.10873-16A>G
|
|
|
NM_001164508.2(NEB):c.10873-4G>A
|
|
|
NM_001164508.2(NEB):c.10873-4G>T
|
rs2098277700
|
|
NM_001164508.2(NEB):c.10873-7T>C
|
|
|
NM_001164508.2(NEB):c.10875T>C (p.Asn3625=)
|
rs1182909673
|
|
NM_001164508.2(NEB):c.10880A>G (p.Tyr3627Cys)
|
rs573537251
|
|
NM_001164508.2(NEB):c.10882A>T (p.Lys3628Ter)
|
|
|
NM_001164508.2(NEB):c.10884G>A (p.Lys3628=)
|
rs2154017407
|
|
NM_001164508.2(NEB):c.10884G>T (p.Lys3628Asn)
|
rs2154017407
|
|
NM_001164508.2(NEB):c.10887A>T (p.Ser3629=)
|
|
|
NM_001164508.2(NEB):c.10890C>T (p.Asp3630=)
|
rs2098277221
|
|
NM_001164508.2(NEB):c.10893T>G (p.Leu3631=)
|
rs2154017315
|
|
NM_001164508.2(NEB):c.10905A>G (p.Lys3635=)
|
rs1206850879
|
|
NM_001164508.2(NEB):c.10913G>C (p.Gly3638Ala)
|
|
|
NM_001164508.2(NEB):c.10914C>T (p.Gly3638=)
|
|
|
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)
|
|
|
NM_001164508.2(NEB):c.10932C>T (p.Ser3644=)
|
rs2154016925
|
|
NM_001164508.2(NEB):c.10938A>G (p.Glu3646=)
|
|
|
NM_001164508.2(NEB):c.10950C>T (p.Ala3650=)
|
|
|
NM_001164508.2(NEB):c.10955G>A (p.Arg3652Lys)
|
rs1553908653
|
|
NM_001164508.2(NEB):c.10956A>G (p.Arg3652=)
|
|
|
NM_001164508.2(NEB):c.10957G>A (p.Ala3653Thr)
|
|
|
NM_001164508.2(NEB):c.10972A>G (p.Ser3658Gly)
|
rs2154016610
|
|
NM_001164508.2(NEB):c.10974T>C (p.Ser3658=)
|
|
|
NM_001164508.2(NEB):c.10976A>G (p.Asp3659Gly)
|
|
|
NM_001164508.2(NEB):c.10981A>T (p.Ile3661Phe)
|
|
|
NM_001164508.2(NEB):c.10982T>C (p.Ile3661Thr)
|
rs886940194
|
|
NM_001164508.2(NEB):c.10987C>T (p.Arg3663Cys)
|
|
|
NM_001164508.2(NEB):c.1098T>C (p.Ala366=)
|
rs901213929
|
|
NM_001164508.2(NEB):c.10994G>A (p.Arg3665His)
|
|
|
NM_001164508.2(NEB):c.11003C>T (p.Thr3668Met)
|
|
|
NM_001164508.2(NEB):c.11010dup (p.Phe3671fs)
|
rs2098273867
|
|
NM_001164508.2(NEB):c.11016C>G (p.Thr3672=)
|
|
|
NM_001164508.2(NEB):c.11016C>T (p.Thr3672=)
|
|
|
NM_001164508.2(NEB):c.1101A>G (p.Ser367=)
|
|
|
NM_001164508.2(NEB):c.11020A>G (p.Ile3674Val)
|
|
|
NM_001164508.2(NEB):c.11022A>G (p.Ile3674Met)
|
|
|
NM_001164508.2(NEB):c.11024C>T (p.Thr3675Met)
|
|
|
NM_001164508.2(NEB):c.11024dup (p.Asp3676fs)
|
rs1560500587
|
|
NM_001164508.2(NEB):c.11028C>T (p.Asp3676=)
|
rs2154015983
|
|
NM_001164508.2(NEB):c.11031_11034del (p.Pro3678fs)
|
|
|
NM_001164508.2(NEB):c.11032C>G (p.Pro3678Ala)
|
rs879255369
|
|
NM_001164508.2(NEB):c.11041G>A (p.Val3681Met)
|
|
|
NM_001164508.2(NEB):c.11041G>C (p.Val3681Leu)
|
|
|
NM_001164508.2(NEB):c.11043G>A (p.Val3681=)
|
rs886038428
|
|
NM_001164508.2(NEB):c.11046G>T (p.Leu3682=)
|
rs2154015826
|
|
NM_001164508.2(NEB):c.11054A>G (p.Asn3685Ser)
|
|
|
NM_001164508.2(NEB):c.11054dup (p.Asn3685fs)
|
rs1560499498
|
|
NM_001164508.2(NEB):c.1106A>G (p.Asn369Ser)
|
rs2099709000
|
|
NM_001164508.2(NEB):c.11076+18del
|
|
|
NM_001164508.2(NEB):c.11076+8T>G
|
|
|
NM_001164508.2(NEB):c.11077-12T>A
|
|
|
NM_001164508.2(NEB):c.11077-13T>C
|
|
|
NM_001164508.2(NEB):c.11077-17T>C
|
|
|
NM_001164508.2(NEB):c.11077-18_11077-17insC
|
|
|
NM_001164508.2(NEB):c.11077-18_11077-17insCTCTC
|
|
|
NM_001164508.2(NEB):c.11077-18_11077-17insTC
|
rs1263320307
|
|
NM_001164508.2(NEB):c.11077-18_11077-17insTCTC
|
|
|
NM_001164508.2(NEB):c.11077-18_11077-17insTCTCTC
|
|
|
NM_001164508.2(NEB):c.11077-1G>A
|
rs1458096844
|
|
NM_001164508.2(NEB):c.11077-20T>C
|
|
|
NM_001164508.2(NEB):c.11077-20_11077-19insCTC
|
rs1553905611
|
|
NM_001164508.2(NEB):c.11077-20_11077-19insCTCTCTC
|
|
|
NM_001164508.2(NEB):c.11077-21_11077-18del
|
rs751075730
|
|
NM_001164508.2(NEB):c.11077-23_11077-18del
|
|
|
NM_001164508.2(NEB):c.11077-23_11077-19del
|
|
|
NM_001164508.2(NEB):c.11077-35CT[5]
|
|
|
NM_001164508.2(NEB):c.11077-35CT[6]
|
|
|
NM_001164508.2(NEB):c.11077-35CT[7]
|
rs369065019
|
|
NM_001164508.2(NEB):c.11077-35CT[9]
|
rs369065019
|
|
NM_001164508.2(NEB):c.11077-6T>C
|
|
|
NM_001164508.2(NEB):c.11077-9T>G
|
|
|
NM_001164508.2(NEB):c.11086A>G (p.Thr3696Ala)
|
|
|
NM_001164508.2(NEB):c.11087C>T (p.Thr3696Ile)
|
|
|
NM_001164508.2(NEB):c.11088T>C (p.Thr3696=)
|
|
|
NM_001164508.2(NEB):c.1109dup (p.Gln371fs)
|
|
|
NM_001164508.2(NEB):c.11103T>C (p.Asn3701=)
|
rs1242008589
|
|
NM_001164508.2(NEB):c.11119C>T (p.His3707Tyr)
|
|
|
NM_001164508.2(NEB):c.1111C>T (p.Gln371Ter)
|
|
|
NM_001164508.2(NEB):c.11124C>G (p.Val3708=)
|
|
|
NM_001164508.2(NEB):c.11132A>T (p.Asp3711Val)
|
|
|
NM_001164508.2(NEB):c.11140G>T (p.Glu3714Ter)
|
|
|
NM_001164508.2(NEB):c.11147T>C (p.Met3716Thr)
|
rs2098235987
|
|
NM_001164508.2(NEB):c.11157A>G (p.Lys3719=)
|
rs2154008369
|
|
NM_001164508.2(NEB):c.11164C>A (p.Arg3722=)
|
rs928945364
|
|
NM_001164508.2(NEB):c.11164C>G (p.Arg3722Gly)
|
|
|
NM_001164508.2(NEB):c.11173T>C (p.Tyr3725His)
|
|
|
NM_001164508.2(NEB):c.11175C>T (p.Tyr3725=)
|
|
|
NM_001164508.2(NEB):c.11177G>A (p.Ser3726Asn)
|
|
|
NM_001164508.2(NEB):c.1117A>C (p.Arg373=)
|
rs778295273
|
|
NM_001164508.2(NEB):c.11181+13T>C
|
|
|
NM_001164508.2(NEB):c.11181+14T>C
|
|
|
NM_001164508.2(NEB):c.11181+16A>C
|
|
|
NM_001164508.2(NEB):c.11181+16A>T
|
|
|
NM_001164508.2(NEB):c.11181+2T>C
|
rs1553904694
|
|
NM_001164508.2(NEB):c.11181+9A>G
|
|
|
NM_001164508.2(NEB):c.11182-12T>C
|
|
|
NM_001164508.2(NEB):c.11182-16A>C
|
|
|
NM_001164508.2(NEB):c.11182-18T>C
|
|
|
NM_001164508.2(NEB):c.11182-20A>G
|
|
|
NM_001164508.2(NEB):c.11182-4A>G
|
rs2154001899
|
|
NM_001164508.2(NEB):c.11182-7T>C
|
|
|
NM_001164508.2(NEB):c.11187C>G (p.Leu3729=)
|
rs2154001878
|
|
NM_001164508.2(NEB):c.11188T>A (p.Tyr3730Asn)
|
|
|
NM_001164508.2(NEB):c.11207A>T (p.Glu3736Val)
|
|
|
NM_001164508.2(NEB):c.11210C>T (p.Ser3737Phe)
|
|
|
NM_001164508.2(NEB):c.11215A>C (p.Lys3739Gln)
|
rs267598922
|
|
NM_001164508.2(NEB):c.1121A>G (p.Gln374Arg)
|
|
|
NM_001164508.2(NEB):c.11229C>T (p.Asp3743=)
|
rs2154001798
|
|
NM_001164508.2(NEB):c.11234G>A (p.Arg3745His)
|
|
|
NM_001164508.2(NEB):c.11239G>T (p.Asp3747Tyr)
|
|
|
NM_001164508.2(NEB):c.11248C>T (p.Pro3750Ser)
|
|
|
NM_001164508.2(NEB):c.11249C>A (p.Pro3750Gln)
|
rs2098183275
|
|
NM_001164508.2(NEB):c.11250A>G (p.Pro3750=)
|
|
|
NM_001164508.2(NEB):c.11253C>G (p.Ile3751Met)
|
|
|
NM_001164508.2(NEB):c.11254C>T (p.Gln3752Ter)
|
|
|
NM_001164508.2(NEB):c.11269delinsATCAGCCTCGA (p.Ser3757fs)
|
|
|
NM_001164508.2(NEB):c.11288A>G (p.Asp3763Gly)
|
|
|
NM_001164508.2(NEB):c.11289+15del
|
|
|
NM_001164508.2(NEB):c.11289+1G>C
|
rs1553901249
|
|
NM_001164508.2(NEB):c.11289+7G>A
|
|
|
NM_001164508.2(NEB):c.11289+8G>C
|
rs772575722
|
|
NM_001164508.2(NEB):c.11289+8del
|
rs2154001568
|
|
NM_001164508.2(NEB):c.11289+9A>G
|
|
|
NM_001164508.2(NEB):c.11289+9A>T
|
rs758976471
|
|
NM_001164508.2(NEB):c.11289delT (p.Tyr3764fs)
|
|
|
NM_001164508.2(NEB):c.11290-10A>G
|
|
|
NM_001164508.2(NEB):c.11290-10A>T
|
rs1560452173
|
|
NM_001164508.2(NEB):c.11290-11dup
|
|
|
NM_001164508.2(NEB):c.11290-12C>T
|
|
|
NM_001164508.2(NEB):c.11290-14C>A
|
|
|
NM_001164508.2(NEB):c.11290-3del
|
rs1469187168
|
|
NM_001164508.2(NEB):c.11290-3dup
|
rs1469187168
|
|
NM_001164508.2(NEB):c.11290-7T>G
|
rs2153993308
|
|
NM_001164508.2(NEB):c.11290-9T>A
|
|
|
NM_001164508.2(NEB):c.11295G>A (p.Lys3765=)
|
|
|
NM_001164508.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn)
|
rs1553898232
|
|
NM_001164508.2(NEB):c.11298C>T (p.Tyr3766=)
|
rs376120080
|
|
NM_001164508.2(NEB):c.112A>C (p.Arg38=)
|
rs2150924938
|
|
NM_001164508.2(NEB):c.11312G>T (p.Arg3771Leu)
|
rs374486286
|
|
NM_001164508.2(NEB):c.11324G>A (p.Gly3775Asp)
|
|
|
NM_001164508.2(NEB):c.11337G>A (p.Gly3779=)
|
|
|
NM_001164508.2(NEB):c.11339C>A (p.Ala3780Asp)
|
|
|
NM_001164508.2(NEB):c.11340C>A (p.Ala3780=)
|
|
|
NM_001164508.2(NEB):c.11342G>A (p.Arg3781Gln)
|
|
|
NM_001164508.2(NEB):c.11346C>T (p.Asn3782=)
|
|
|
NM_001164508.2(NEB):c.1134A>G (p.Ala378=)
|
|
|
NM_001164508.2(NEB):c.11352G>A (p.Lys3784=)
|
|
|
NM_001164508.2(NEB):c.11360C>G (p.Pro3787Arg)
|
|
|
NM_001164508.2(NEB):c.11360C>T (p.Pro3787Leu)
|
|
|
NM_001164508.2(NEB):c.11361G>C (p.Pro3787=)
|
|
|
NM_001164508.2(NEB):c.11364G>A (p.Lys3788=)
|
rs2153992902
|
|
NM_001164508.2(NEB):c.11367G>T (p.Met3789Ile)
|
rs1256861153
|
|
NM_001164508.2(NEB):c.11371T>C (p.Trp3791Arg)
|
rs2098127092
|
|
NM_001164508.2(NEB):c.11379C>A (p.Ile3793=)
|
rs1437152444
|
|
NM_001164508.2(NEB):c.11382T>C (p.His3794=)
|
|
|
NM_001164508.2(NEB):c.11388C>A (p.Ala3796=)
|
rs2153992756
|
|
NM_001164508.2(NEB):c.11403C>G (p.Asp3801Glu)
|
|
|
NM_001164508.2(NEB):c.11404A>C (p.Arg3802=)
|
rs2153992690
|
|
NM_001164508.2(NEB):c.11408del (p.Glu3803fs)
|
|
|
NM_001164508.2(NEB):c.11412C>G (p.Tyr3804Ter)
|
|
|
NM_001164508.2(NEB):c.11415G>A (p.Lys3805=)
|
rs1380185381
|
|
NM_001164508.2(NEB):c.11417A>G (p.Lys3806Arg)
|
rs2098126289
|
|
NM_001164508.2(NEB):c.11425G>T (p.Glu3809Ter)
|
rs2098126010
|
|
NM_001164508.2(NEB):c.11430G>A (p.Lys3810=)
|
rs764934509
|
|
NM_001164508.2(NEB):c.11432G>A (p.Trp3811Ter)
|
|
|
NM_001164508.2(NEB):c.11440A>G (p.Lys3814Glu)
|
rs1553897365
|
|
NM_001164508.2(NEB):c.11441A>G (p.Lys3814Arg)
|
|
|
NM_001164508.2(NEB):c.11448C>T (p.Ser3816=)
|
rs2153992397
|
|
NM_001164508.2(NEB):c.1144C>T (p.Leu382=)
|
|
|
NM_001164508.2(NEB):c.11450G>A (p.Ser3817Asn)
|
rs776337697
|
|
NM_001164508.2(NEB):c.11459A>T (p.Asp3820Val)
|
rs1008059245
|
|
NM_001164508.2(NEB):c.11461A>T (p.Met3821Leu)
|
rs1057524782
|
|
NM_001164508.2(NEB):c.11467G>C (p.Gly3823Arg)
|
rs1489953672
|
|
NM_001164508.2(NEB):c.1146A>G (p.Leu382=)
|
|
|
NM_001164508.2(NEB):c.11473del (p.Val3825fs)
|
rs2153992255
|
|
NM_001164508.2(NEB):c.11479G>A (p.Ala3827Thr)
|
rs1404351594
|
|
NM_001164508.2(NEB):c.11496C>T (p.Ile3832=)
|
|
|
NM_001164508.2(NEB):c.11498T>C (p.Leu3833Pro)
|
rs2098124760
|
|
NM_001164508.2(NEB):c.1149T>C (p.Ser383=)
|
|
|
NM_001164508.2(NEB):c.11505C>T (p.Ser3835=)
|
rs889698238
|
|
NM_001164508.2(NEB):c.11511A>C (p.Ile3837=)
|
|
|
NM_001164508.2(NEB):c.11515T>C (p.Tyr3839His)
|
|
|
NM_001164508.2(NEB):c.11516A>G (p.Tyr3839Cys)
|
|
|
NM_001164508.2(NEB):c.1152+15G>A
|
|
|
NM_001164508.2(NEB):c.1152+15G>C
|
|
|
NM_001164508.2(NEB):c.1152+18A>C
|
|
|
NM_001164508.2(NEB):c.1152+19_1152+20del
|
|
|
NM_001164508.2(NEB):c.1152+1G>C
|
rs398124167
|
|
NM_001164508.2(NEB):c.1152+1G>T
|
rs398124167
|
|
NM_001164508.2(NEB):c.1152+20A>G
|
|
|
NM_001164508.2(NEB):c.1152+6T>C
|
|
|
NM_001164508.2(NEB):c.1152+9A>T
|
rs2099708834
|
|
NM_001164508.2(NEB):c.11520G>A (p.Lys3840=)
|
rs781232760
|
|
NM_001164508.2(NEB):c.11529del (p.His3844fs)
|
|
|
NM_001164508.2(NEB):c.1153-10del
|
rs776691267
|
|
NM_001164508.2(NEB):c.1153-10dup
|
rs776691267
|
|
NM_001164508.2(NEB):c.1153-12T>G
|
|
|
NM_001164508.2(NEB):c.1153-14T>G
|
|
|
NM_001164508.2(NEB):c.1153-17T>C
|
|
|
NM_001164508.2(NEB):c.1153-18A>G
|
|
|
NM_001164508.2(NEB):c.1153-18A>T
|
|
|
NM_001164508.2(NEB):c.1153-2A>T
|
rs1553609515
|
|
NM_001164508.2(NEB):c.1153-5G>T
|
rs747738880
|
|
NM_001164508.2(NEB):c.1153-7T>G
|
|
|
NM_001164508.2(NEB):c.11533G>T (p.Glu3845Ter)
|
rs755390933
|
|
NM_001164508.2(NEB):c.11535A>G (p.Glu3845=)
|
|
|
NM_001164508.2(NEB):c.11544C>T (p.Cys3848=)
|
|
|
NM_001164508.2(NEB):c.11550T>A (p.Pro3850=)
|
|
|
NM_001164508.2(NEB):c.11563G>A (p.Val3855Ile)
|
rs542092706
|
|
NM_001164508.2(NEB):c.11565C>A (p.Val3855=)
|
rs763599894
|
|
NM_001164508.2(NEB):c.11568T>C (p.Ile3856=)
|
|
|
NM_001164508.2(NEB):c.1157del (p.Leu386fs)
|
rs2149368742
|
|
NM_001164508.2(NEB):c.11581G>A (p.Ala3861Thr)
|
|
|
NM_001164508.2(NEB):c.11584_11587dup (p.Asp3863delinsValTer)
|
rs2153991555
|
|
NM_001164508.2(NEB):c.11585A>G (p.Tyr3862Cys)
|
|
|
NM_001164508.2(NEB):c.11585_11586delinsC (p.Tyr3862fs)
|
rs1553896522
|
|
NM_001164508.2(NEB):c.11586T>C (p.Tyr3862=)
|
rs2153991564
|
|
NM_001164508.2(NEB):c.1158A>C (p.Leu386=)
|
rs1347524577
|
|
NM_001164508.2(NEB):c.1158A>G (p.Leu386=)
|
rs1347524577
|
|
NM_001164508.2(NEB):c.1158A>T (p.Leu386=)
|
rs1347524577
|
|
NM_001164508.2(NEB):c.11601+11C>T
|
|
|
NM_001164508.2(NEB):c.11601+12T>C
|
|
|
NM_001164508.2(NEB):c.11601+19C>A
|
rs1438598403
|
|
NM_001164508.2(NEB):c.11602-13A>T
|
rs886054941
|
|
NM_001164508.2(NEB):c.11602-14T>A
|
|
|
NM_001164508.2(NEB):c.11602-2A>C
|
rs1553891733
|
|
NM_001164508.2(NEB):c.11602-9C>A
|
rs1403276683
|
|
NM_001164508.2(NEB):c.11602-9C>T
|
|
|
NM_001164508.2(NEB):c.11606T>C (p.Ile3869Thr)
|
|
|
NM_001164508.2(NEB):c.11610C>A (p.Tyr3870Ter)
|
rs2098013896
|
|
NM_001164508.2(NEB):c.11612A>C (p.Lys3871Thr)
|
|
|
NM_001164508.2(NEB):c.11612A>T (p.Lys3871Ile)
|
|
|
NM_001164508.2(NEB):c.11613del (p.Lys3871fs)
|
rs2098013713
|
|
NM_001164508.2(NEB):c.11615C>G (p.Ser3872Cys)
|
rs886054940
|
|
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter)
|
rs1259297878
|
|
NM_001164508.2(NEB):c.1161C>T (p.Tyr387=)
|
rs1259297878
|
|
NM_001164508.2(NEB):c.11621T>C (p.Leu3874Pro)
|
rs1131691534
|
|
NM_001164508.2(NEB):c.11629C>T (p.Leu3877=)
|
rs2153983329
|
|
NM_001164508.2(NEB):c.1162A>G (p.Lys388Glu)
|
rs1159204491
|
|
NM_001164508.2(NEB):c.11636G>A (p.Gly3879Asp)
|
rs199766288
|
|
NM_001164508.2(NEB):c.11636G>T (p.Gly3879Val)
|
|
|
NM_001164508.2(NEB):c.11640A>T (p.Ile3880=)
|
rs2098012297
|
|
NM_001164508.2(NEB):c.1164G>A (p.Lys388=)
|
|
|
NM_001164508.2(NEB):c.11652C>T (p.Pro3884=)
|
rs747207078
|
|
NM_001164508.2(NEB):c.11654T>A (p.Ile3885Asn)
|
rs1367960856
|
|
NM_001164508.2(NEB):c.11664A>G (p.Val3888=)
|
rs2098011552
|
|
NM_001164508.2(NEB):c.11666del (p.Glu3889fs)
|
|
|
NM_001164508.2(NEB):c.11668G>T (p.Val3890Phe)
|
|
|
NM_001164508.2(NEB):c.11670C>A (p.Val3890=)
|
|
|
NM_001164508.2(NEB):c.11670C>G (p.Val3890=)
|
rs757703477
|
|
NM_001164508.2(NEB):c.11679G>A (p.Val3893=)
|
|
|
NM_001164508.2(NEB):c.11683A>C (p.Arg3895=)
|
|
|
NM_001164508.2(NEB):c.11686G>C (p.Ala3896Pro)
|
|
|
NM_001164508.2(NEB):c.11690G>A (p.Gly3897Glu)
|
rs777129630
|
|
NM_001164508.2(NEB):c.1169A>G (p.Asn390Ser)
|
|
|
NM_001164508.2(NEB):c.11708G>A (p.Arg3903Lys)
|
rs2098010006
|
|
NM_001164508.2(NEB):c.1170C>G (p.Asn390Lys)
|
|
|
NM_001164508.2(NEB):c.1170C>T (p.Asn390=)
|
rs751470649
|
|
NM_001164508.2(NEB):c.11718C>T (p.Arg3906=)
|
rs766404193
|
|
NM_001164508.2(NEB):c.11724T>C (p.Pro3908=)
|
rs2153983044
|
|
NM_001164508.2(NEB):c.11730C>G (p.Asp3910Glu)
|
|
|
NM_001164508.2(NEB):c.11731C>T (p.Gln3911Ter)
|
|
|
NM_001164508.2(NEB):c.1173T>A (p.Tyr391Ter)
|
|
|
NM_001164508.2(NEB):c.1173T>C (p.Tyr391=)
|
rs766385695
|
|
NM_001164508.2(NEB):c.11745A>G (p.Thr3915=)
|
rs1342761496
|
|
NM_001164508.2(NEB):c.11748C>T (p.Cys3916=)
|
rs1436399522
|
|
NM_001164508.2(NEB):c.11752A>G (p.Thr3918Ala)
|
|
|
NM_001164508.2(NEB):c.11754C>G (p.Thr3918=)
|
|
|
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn)
|
rs201483656
|
|
NM_001164508.2(NEB):c.11755G>C (p.Asp3919His)
|
|
|
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr)
|
rs201483656
|
|
NM_001164508.2(NEB):c.11756A>G (p.Asp3919Gly)
|
rs2098007899
|
|
NM_001164508.2(NEB):c.11760T>C (p.Thr3920=)
|
|
|
NM_001164508.2(NEB):c.11763G>T (p.Pro3921=)
|
rs554366790
|
|
NM_001164508.2(NEB):c.11778A>C (p.Ala3926=)
|
|
|
NM_001164508.2(NEB):c.11778A>G (p.Ala3926=)
|
|
|
NM_001164508.2(NEB):c.11781G>A (p.Lys3927=)
|
|
|
NM_001164508.2(NEB):c.11793G>A (p.Leu3931=)
|
|
|
NM_001164508.2(NEB):c.11796A>G (p.Thr3932=)
|
|
|
NM_001164508.2(NEB):c.11805+11del
|
|
|
NM_001164508.2(NEB):c.11805+14T>C
|
|
|
NM_001164508.2(NEB):c.11805+17T>C
|
|
|
NM_001164508.2(NEB):c.11805+1G>A
|
|
|
NM_001164508.2(NEB):c.11805+2T>A
|
|
|
NM_001164508.2(NEB):c.11805+7C>G
|
rs2153982791
|
|
NM_001164508.2(NEB):c.11805+8T>C
|
|
|
NM_001164508.2(NEB):c.11805+9C>G
|
|
|
NM_001164508.2(NEB):c.11806-14G>A
|
|
|
NM_001164508.2(NEB):c.11806-15C>T
|
|
|
NM_001164508.2(NEB):c.11806-15_11806-14insTGCCCCG
|
|
|
NM_001164508.2(NEB):c.11806-19A>G
|
|
|
NM_001164508.2(NEB):c.11806-1G>A
|
rs886041851
|
|
NM_001164508.2(NEB):c.11806-7C>T
|
|
|
NM_001164508.2(NEB):c.11806-8C>T
|
rs1313143934
|
|
NM_001164508.2(NEB):c.11806-9G>A
|
|
|
NM_001164508.2(NEB):c.11806-9G>T
|
|
|
NM_001164508.2(NEB):c.11808T>C (p.His3936=)
|
rs2153976184
|
|
NM_001164508.2(NEB):c.11826G>C (p.Trp3942Cys)
|
rs759613419
|
|
NM_001164508.2(NEB):c.1182A>G (p.Thr394=)
|
rs186233985
|
|
NM_001164508.2(NEB):c.1182A>T (p.Thr394=)
|
|
|
NM_001164508.2(NEB):c.11835C>T (p.Asp3945=)
|
rs2153976072
|
|
NM_001164508.2(NEB):c.11836A>G (p.Lys3946Glu)
|
|
|
NM_001164508.2(NEB):c.1184_1185dup (p.Ala396fs)
|
rs2149367866
|
|
NM_001164508.2(NEB):c.11865C>T (p.Thr3955=)
|
rs2153975940
|
|
NM_001164508.2(NEB):c.11873T>C (p.Ile3958Thr)
|
|
|
NM_001164508.2(NEB):c.11877G>T (p.Leu3959=)
|
|
|
NM_001164508.2(NEB):c.11880G>A (p.Leu3960=)
|
rs2153975908
|
|
NM_001164508.2(NEB):c.11889T>A (p.Ser3963Arg)
|
rs773708904
|
|
NM_001164508.2(NEB):c.11889T>C (p.Ser3963=)
|
|
|
NM_001164508.2(NEB):c.11890A>G (p.Asn3964Asp)
|
|
|
NM_001164508.2(NEB):c.11891A>T (p.Asn3964Ile)
|
rs1560398552
|
|
NM_001164508.2(NEB):c.11891del (p.Asn3964fs)
|
|
|
NM_001164508.2(NEB):c.11902A>G (p.Ile3968Val)
|
|
|
NM_001164508.2(NEB):c.11904C>A (p.Ile3968=)
|
rs2153975760
|
|
NM_001164508.2(NEB):c.11907C>T (p.Ser3969=)
|
|
|
NM_001164508.2(NEB):c.11909_11910+4del
|
rs1553886582
|
|
NM_001164508.2(NEB):c.11910+10T>G
|
rs2153975689
|
|
NM_001164508.2(NEB):c.11910+3A>G
|
rs2097920067
|
|
NM_001164508.2(NEB):c.11910+7G>T
|
rs1424646372
|
|
NM_001164508.2(NEB):c.11911-10C>G
|
rs1267248176
|
|
NM_001164508.2(NEB):c.11911-12T>G
|
rs2153974946
|
|
NM_001164508.2(NEB):c.11911-16A>G
|
|
|
NM_001164508.2(NEB):c.11911-4C>T
|
|
|
NM_001164508.2(NEB):c.11911-6C>T
|
|
|
NM_001164508.2(NEB):c.11911A>G (p.Lys3971Glu)
|
rs762228870
|
|
NM_001164508.2(NEB):c.11923A>T (p.Lys3975Ter)
|
|
|
NM_001164508.2(NEB):c.11928A>G (p.Gly3976=)
|
|
|
NM_001164508.2(NEB):c.11932G>T (p.Asp3978Tyr)
|
rs2097912400
|
|
NM_001164508.2(NEB):c.11937A>G (p.Glu3979=)
|
|
|
NM_001164508.2(NEB):c.1193G>A (p.Ser398Asn)
|
|
|
NM_001164508.2(NEB):c.11943G>A (p.Lys3981=)
|
rs1258501445
|
|
NM_001164508.2(NEB):c.11949G>A (p.Lys3983=)
|
|
|
NM_001164508.2(NEB):c.11949G>T (p.Lys3983Asn)
|
|
|
NM_001164508.2(NEB):c.11949_11957dup (p.Tyr3985_Asp3986insGluAspTyr)
|
rs753048510
|
|
NM_001164508.2(NEB):c.11967A>G (p.Ala3989=)
|
rs770739649
|
|
NM_001164508.2(NEB):c.11969A>C (p.Asp3990Ala)
|
|
|
NM_001164508.2(NEB):c.11974A>T (p.Ile3992Phe)
|
|
|
NM_001164508.2(NEB):c.11976T>C (p.Ile3992=)
|
|
|
NM_001164508.2(NEB):c.11977T>C (p.Ser3993Pro)
|
rs2153974640
|
|
NM_001164508.2(NEB):c.11980A>G (p.Ile3994Val)
|
rs751650751
|
|
NM_001164508.2(NEB):c.11982C>A (p.Ile3994=)
|
rs780157705
|
|
NM_001164508.2(NEB):c.11986del (p.Ser3996fs)
|
|
|
NM_001164508.2(NEB):c.11991C>A (p.Ala3997=)
|
rs2153974584
|
|
NM_001164508.2(NEB):c.11991C>G (p.Ala3997=)
|
rs2153974584
|
|
NM_001164508.2(NEB):c.11991C>T (p.Ala3997=)
|
|
|
NM_001164508.2(NEB):c.12009C>A (p.Ile4003=)
|
rs1238384293
|
|
NM_001164508.2(NEB):c.12009C>T (p.Ile4003=)
|
rs1238384293
|
|
NM_001164508.2(NEB):c.12010G>C (p.Ala4004Pro)
|
|
|
NM_001164508.2(NEB):c.12013A>T (p.Ser4005Cys)
|
|
|
NM_001164508.2(NEB):c.12018+11T>G
|
|
|
NM_001164508.2(NEB):c.12018+14A>G
|
|
|
NM_001164508.2(NEB):c.12018+14A>T
|
|
|
NM_001164508.2(NEB):c.12018+16C>T
|
|
|
NM_001164508.2(NEB):c.12018+8C>G
|
rs2097909628
|
|
NM_001164508.2(NEB):c.12018C>T (p.Asp4006=)
|
|
|
NM_001164508.2(NEB):c.12019-2A>G
|
|
|
NM_001164508.2(NEB):c.12019-9G>A
|
|
|
NM_001164508.2(NEB):c.12020A>C (p.Tyr4007Ser)
|
rs758528247
|
|
NM_001164508.2(NEB):c.12020A>G (p.Tyr4007Cys)
|
rs758528247
|
|
NM_001164508.2(NEB):c.12030G>A (p.Lys4010=)
|
rs1335298784
|
|
NM_001164508.2(NEB):c.1203C>T (p.Tyr401=)
|
rs767796251
|
|
NM_001164508.2(NEB):c.12041A>G (p.Glu4014Gly)
|
rs2153972362
|
|
NM_001164508.2(NEB):c.1204T>G (p.Cys402Gly)
|
|
|
NM_001164508.2(NEB):c.12069C>A (p.Ala4023=)
|
|
|
NM_001164508.2(NEB):c.12072G>T (p.Gln4024His)
|
|
|
NM_001164508.2(NEB):c.12074del (p.Ser4025fs)
|
rs2153972237
|
|
NM_001164508.2(NEB):c.12075C>T (p.Ser4025=)
|
rs2153972217
|
|
NM_001164508.2(NEB):c.12078T>C (p.Ile4026=)
|
rs1367511738
|
|
NM_001164508.2(NEB):c.12080A>G (p.Glu4027Gly)
|
rs1188050770
|
|
NM_001164508.2(NEB):c.12081A>G (p.Glu4027=)
|
|
|
NM_001164508.2(NEB):c.12082G>A (p.Asp4028Asn)
|
rs2153972179
|
|
NM_001164508.2(NEB):c.12090C>G (p.Pro4030=)
|
|
|
NM_001164508.2(NEB):c.1209G>T (p.Glu403Asp)
|
rs1576715880
|
|
NM_001164508.2(NEB):c.12100T>A (p.Cys4034Ser)
|
rs973939120
|
|
NM_001164508.2(NEB):c.12103G>A (p.Ala4035Thr)
|
rs2097889020
|
|
NM_001164508.2(NEB):c.12111T>C (p.His4037=)
|
|
|
NM_001164508.2(NEB):c.12126A>G (p.Gln4042=)
|
|
|
NM_001164508.2(NEB):c.1212C>T (p.Thr404=)
|
|
|
NM_001164508.2(NEB):c.12137A>G (p.Glu4046Gly)
|
|
|
NM_001164508.2(NEB):c.12144G>A (p.Lys4048=)
|
rs576457241
|
|
NM_001164508.2(NEB):c.12150A>G (p.Glu4050=)
|
|
|
NM_001164508.2(NEB):c.12151T>C (p.Phe4051Leu)
|
|
|
NM_001164508.2(NEB):c.12153C>T (p.Phe4051=)
|
|
|
NM_001164508.2(NEB):c.12158A>C (p.Lys4053Thr)
|
|
|
NM_001164508.2(NEB):c.1215dup (p.Lys406fs)
|
|
|
NM_001164508.2(NEB):c.12160del (p.Trp4054fs)
|
rs1319778592
|
|
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)
|
|
|
NM_001164508.2(NEB):c.12166del (p.Thr4056fs)
|
|
|
NM_001164508.2(NEB):c.12168C>T (p.Thr4056=)
|
|
|
NM_001164508.2(NEB):c.12180C>T (p.Ser4060=)
|
rs2097886989
|
|
NM_001164508.2(NEB):c.12182del (p.Pro4061fs)
|
rs2097886912
|
|
NM_001164508.2(NEB):c.12185T>C (p.Val4062Ala)
|
|
|
NM_001164508.2(NEB):c.12186G>A (p.Val4062=)
|
|
|
NM_001164508.2(NEB):c.12193T>C (p.Leu4065=)
|
rs768643787
|
|
NM_001164508.2(NEB):c.12205C>T (p.Leu4069=)
|
|
|
NM_001164508.2(NEB):c.12206T>C (p.Leu4069Pro)
|
|
|
NM_001164508.2(NEB):c.12218G>A (p.Cys4073Tyr)
|
|
|
NM_001164508.2(NEB):c.12218G>C (p.Cys4073Ser)
|
rs1316221324
|
|
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)
|
|
|
NM_001164508.2(NEB):c.12221A>T (p.Gln4074Leu)
|
rs1257852959
|
|
NM_001164508.2(NEB):c.12244T>C (p.Tyr4082His)
|
|
|
NM_001164508.2(NEB):c.12251A>G (p.Asn4084Ser)
|
rs761668198
|
|
NM_001164508.2(NEB):c.12252T>C (p.Asn4084=)
|
rs2153971513
|
|
NM_001164508.2(NEB):c.12258G>A (p.Leu4086=)
|
|
|
NM_001164508.2(NEB):c.12258G>T (p.Leu4086=)
|
rs371771414
|
|
NM_001164508.2(NEB):c.12260A>G (p.His4087Arg)
|
rs199683595
|
|
NM_001164508.2(NEB):c.12261T>C (p.His4087=)
|
|
|
NM_001164508.2(NEB):c.12262G>C (p.Glu4088Gln)
|
|
|
NM_001164508.2(NEB):c.12270A>T (p.Thr4090=)
|
rs1247368291
|
|
NM_001164508.2(NEB):c.12273C>T (p.Cys4091=)
|
|
|
NM_001164508.2(NEB):c.12274A>G (p.Met4092Val)
|
|
|
NM_001164508.2(NEB):c.12275T>G (p.Met4092Arg)
|
|
|
NM_001164508.2(NEB):c.12278C>G (p.Pro4093Arg)
|
rs749270501
|
|
NM_001164508.2(NEB):c.12278dup (p.Asp4094fs)
|
|
|
NM_001164508.2(NEB):c.12279G>C (p.Pro4093=)
|
rs367638234
|
|
NM_001164508.2(NEB):c.12279G>T (p.Pro4093=)
|
|
|
NM_001164508.2(NEB):c.1227C>G (p.Leu409=)
|
rs371658494
|
|
NM_001164508.2(NEB):c.12288C>A (p.Asn4096Lys)
|
rs755521679
|
|
NM_001164508.2(NEB):c.12291C>T (p.Asp4097=)
|
rs1303536974
|
|
NM_001164508.2(NEB):c.12297C>G (p.Ile4099Met)
|
rs1442726188
|
|
NM_001164508.2(NEB):c.1229A>C (p.Asp410Ala)
|
rs1576715183
|
|
NM_001164508.2(NEB):c.12304A>C (p.Lys4102Gln)
|
rs2153971169
|
|
NM_001164508.2(NEB):c.12310G>A (p.Ala4104Thr)
|
|
|
NM_001164508.2(NEB):c.12311C>T (p.Ala4104Val)
|
|
|
NM_001164508.2(NEB):c.12312C>G (p.Ala4104=)
|
|
|
NM_001164508.2(NEB):c.12314A>G (p.Tyr4105Cys)
|
|
|
NM_001164508.2(NEB):c.1231A>T (p.Thr411Ser)
|
rs2099605512
|
|
NM_001164508.2(NEB):c.12321G>A (p.Leu4107=)
|
|
|
NM_001164508.2(NEB):c.12326G>C (p.Ser4109Thr)
|
|
|
NM_001164508.2(NEB):c.12330+15T>G
|
|
|
NM_001164508.2(NEB):c.12330+19G>T
|
|
|
NM_001164508.2(NEB):c.12330+1G>A
|
rs1350840483
|
|
NM_001164508.2(NEB):c.12330+20G>A
|
|
|
NM_001164508.2(NEB):c.12330+5G>A
|
rs763163879
|
|
NM_001164508.2(NEB):c.12330+9C>A
|
|
|
NM_001164508.2(NEB):c.12331-12del
|
|
|
NM_001164508.2(NEB):c.12331-13A>G
|
|
|
NM_001164508.2(NEB):c.12331-15A>G
|
rs1193626196
|
|
NM_001164508.2(NEB):c.12331-17T>C
|
|
|
NM_001164508.2(NEB):c.12331-19T>A
|
|
|
NM_001164508.2(NEB):c.12331-1G>A
|
rs2097775442
|
|
NM_001164508.2(NEB):c.12331-20G>A
|
|
|
NM_001164508.2(NEB):c.12331-20G>T
|
|
|
NM_001164508.2(NEB):c.12331-4A>G
|
rs2153961014
|
|
NM_001164508.2(NEB):c.12331-4A>T
|
rs2153961014
|
|
NM_001164508.2(NEB):c.12331-7T>C
|
|
|
NM_001164508.2(NEB):c.12331-8_12331-6del
|
rs1467597707
|
|
NM_001164508.2(NEB):c.12331-9del
|
|
|
NM_001164508.2(NEB):c.12339T>C (p.Tyr4113=)
|
|
|
NM_001164508.2(NEB):c.1233T>A (p.Thr411=)
|
rs1241731133
|
|
NM_001164508.2(NEB):c.12342G>A (p.Lys4114=)
|
rs1215819197
|
|
NM_001164508.2(NEB):c.12345A>G (p.Ala4115=)
|
|
|
NM_001164508.2(NEB):c.12348C>T (p.Asp4116=)
|
rs2153960868
|
|
NM_001164508.2(NEB):c.12349C>T (p.Leu4117=)
|
rs2153960843
|
|
NM_001164508.2(NEB):c.12351G>A (p.Leu4117=)
|
|
|
NM_001164508.2(NEB):c.12354G>A (p.Glu4118=)
|
rs2153960806
|
|
NM_001164508.2(NEB):c.12356G>A (p.Trp4119Ter)
|
rs2153960793
|
|
NM_001164508.2(NEB):c.12358C>T (p.Leu4120=)
|
rs1579062340
|
|
NM_001164508.2(NEB):c.12360G>A (p.Leu4120=)
|
|
|
NM_001164508.2(NEB):c.12360G>T (p.Leu4120=)
|
rs2153960754
|
|
NM_001164508.2(NEB):c.12362G>A (p.Arg4121His)
|
rs1310133597
|
|
NM_001164508.2(NEB):c.12366C>T (p.Gly4122=)
|
|
|
NM_001164508.2(NEB):c.12369C>G (p.Ile4123Met)
|
rs1277282343
|
|
NM_001164508.2(NEB):c.12369C>T (p.Ile4123=)
|
rs1277282343
|
|
NM_001164508.2(NEB):c.12370G>A (p.Gly4124Ser)
|
rs1227592399
|
|
NM_001164508.2(NEB):c.12372C>A (p.Gly4124=)
|
|
|
NM_001164508.2(NEB):c.12374G>A (p.Trp4125Ter)
|
rs2153960638
|
|
NM_001164508.2(NEB):c.12375del (p.Gly4124_Trp4125insTer)
|
|
|
NM_001164508.2(NEB):c.1237C>T (p.Leu413=)
|
|
|
NM_001164508.2(NEB):c.12381A>G (p.Pro4127=)
|
|
|
NM_001164508.2(NEB):c.12382G>A (p.Glu4128Lys)
|
rs1553877949
|
|
NM_001164508.2(NEB):c.12390A>G (p.Ser4130=)
|
rs2153960575
|
|
NM_001164508.2(NEB):c.12394G>A (p.Glu4132Lys)
|
rs2153960539
|
|
NM_001164508.2(NEB):c.12394G>T (p.Glu4132Ter)
|
rs2153960539
|
|
NM_001164508.2(NEB):c.12395A>G (p.Glu4132Gly)
|
rs1553877904
|
|
NM_001164508.2(NEB):c.1239G>A (p.Leu413=)
|
|
|
NM_001164508.2(NEB):c.123C>T (p.Asp41=)
|
|
|
NM_001164508.2(NEB):c.12402C>T (p.Asn4134=)
|
|
|
NM_001164508.2(NEB):c.12402_12403del (p.Asn4134fs)
|
rs2153960473
|
|
NM_001164508.2(NEB):c.12405A>G (p.Arg4135=)
|
|
|
NM_001164508.2(NEB):c.12406G>A (p.Val4136Met)
|
rs1553877868
|
|
NM_001164508.2(NEB):c.12407T>G (p.Val4136Gly)
|
rs1553877860
|
|
NM_001164508.2(NEB):c.12411G>A (p.Lys4137=)
|
rs2153960385
|
|
NM_001164508.2(NEB):c.12413T>G (p.Val4138Gly)
|
rs1553877811
|
|
NM_001164508.2(NEB):c.12423C>T (p.Asp4141=)
|
|
|
NM_001164508.2(NEB):c.12426C>G (p.Leu4142=)
|
|
|
NM_001164508.2(NEB):c.12426C>T (p.Leu4142=)
|
rs1320574868
|
|
NM_001164508.2(NEB):c.12432T>C (p.Asn4144=)
|
rs2153960200
|
|
NM_001164508.2(NEB):c.12433G>T (p.Glu4145Ter)
|
rs2097773972
|
|
NM_001164508.2(NEB):c.12435A>G (p.Glu4145=)
|
rs2153960156
|
|
NM_001164508.2(NEB):c.12438A>G (p.Arg4146=)
|
rs2097773804
|
|
NM_001164508.2(NEB):c.12438del (p.Arg4146fs)
|
rs2153960110
|
|
NM_001164508.2(NEB):c.12441C>A (p.Leu4147=)
|
|
|
NM_001164508.2(NEB):c.12441C>T (p.Leu4147=)
|
|
|
NM_001164508.2(NEB):c.12441_12442del (p.Leu4147_Tyr4148insTer)
|
rs2153960091
|
|
NM_001164508.2(NEB):c.12443A>G (p.Tyr4148Cys)
|
rs1553877721
|
|
NM_001164508.2(NEB):c.12444T>C (p.Tyr4148=)
|
rs1398108498
|
|
NM_001164508.2(NEB):c.12445A>C (p.Arg4149=)
|
|
|
NM_001164508.2(NEB):c.12447del (p.Thr4150fs)
|
|
|
NM_001164508.2(NEB):c.12450A>G (p.Thr4150=)
|
rs2153960019
|
|
NM_001164508.2(NEB):c.12453T>A (p.Arg4151=)
|
|
|
NM_001164508.2(NEB):c.12453T>C (p.Arg4151=)
|
rs2153959989
|
|
NM_001164508.2(NEB):c.12456A>G (p.Pro4152=)
|
rs1289572507
|
|
NM_001164508.2(NEB):c.12457G>T (p.Glu4153Ter)
|
rs2097773424
|
|
NM_001164508.2(NEB):c.1245C>T (p.Asn415=)
|
rs1576714614
|
|
NM_001164508.2(NEB):c.12462T>C (p.Ala4154=)
|
rs2153959921
|
|
NM_001164508.2(NEB):c.12463T>C (p.Leu4155=)
|
|
|
NM_001164508.2(NEB):c.12465G>A (p.Leu4155=)
|
rs2153959905
|
|
NM_001164508.2(NEB):c.12468A>G (p.Ser4156=)
|
|
|
NM_001164508.2(NEB):c.12471C>T (p.Phe4157=)
|
rs2153959866
|
|
NM_001164508.2(NEB):c.12474C>A (p.Thr4158=)
|
rs1579059705
|
|
NM_001164508.2(NEB):c.12474C>G (p.Thr4158=)
|
rs1579059705
|
|
NM_001164508.2(NEB):c.12474C>T (p.Thr4158=)
|
rs1579059705
|
|
NM_001164508.2(NEB):c.12483C>T (p.Val4161=)
|
rs876657539
|
|
NM_001164508.2(NEB):c.12490C>T (p.Pro4164Ser)
|
rs1553877565
|
|
NM_001164508.2(NEB):c.12495A>G (p.Glu4165=)
|
|
|
NM_001164508.2(NEB):c.12498T>C (p.Val4166=)
|
rs2153959726
|
|
NM_001164508.2(NEB):c.12501C>A (p.Val4167=)
|
|
|
NM_001164508.2(NEB):c.12501C>G (p.Val4167=)
|
rs2153959703
|
|
NM_001164508.2(NEB):c.12504G>A (p.Leu4168=)
|
|
|
NM_001164508.2(NEB):c.12516T>C (p.Asn4172=)
|
|
|
NM_001164508.2(NEB):c.12522G>A (p.Leu4174=)
|
rs1579058797
|
|
NM_001164508.2(NEB):c.12523C>T (p.Gln4175Ter)
|
rs2153959601
|
|
NM_001164508.2(NEB):c.12525A>G (p.Gln4175=)
|
|
|
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys)
|
rs1553877493
|
|
NM_001164508.2(NEB):c.12534+10A>G
|
rs2153959502
|
|
NM_001164508.2(NEB):c.12534+11T>C
|
|
|
NM_001164508.2(NEB):c.12534+12C>T
|
|
|
NM_001164508.2(NEB):c.12534+13C>A
|
|
|
NM_001164508.2(NEB):c.12534+13C>G
|
|
|
NM_001164508.2(NEB):c.12534+13C>T
|
|
|
NM_001164508.2(NEB):c.12534+15A>C
|
|
|
NM_001164508.2(NEB):c.12534+16C>G
|
|
|
NM_001164508.2(NEB):c.12534+16C>T
|
|
|
NM_001164508.2(NEB):c.12534+17T>C
|
rs2153959467
|
|
NM_001164508.2(NEB):c.12534+18A>G
|
|
|
NM_001164508.2(NEB):c.12534+19T>A
|
|
|
NM_001164508.2(NEB):c.12534+20C>G
|
|
|
NM_001164508.2(NEB):c.12534+3A>C
|
|
|
NM_001164508.2(NEB):c.12534+3A>G
|
rs2097772131
|
|
NM_001164508.2(NEB):c.12534+7A>C
|
|
|
NM_001164508.2(NEB):c.12534+9C>G
|
|
|
NM_001164508.2(NEB):c.12534+9del
|
|
|
NM_001164508.2(NEB):c.12535-10C>A
|
|
|
NM_001164508.2(NEB):c.12535-10C>G
|
rs2097760296
|
|
NM_001164508.2(NEB):c.12535-10C>T
|
rs2097760296
|
|
NM_001164508.2(NEB):c.12535-13C>A
|
|
|
NM_001164508.2(NEB):c.12535-13C>G
|
|
|
NM_001164508.2(NEB):c.12535-13C>T
|
rs2153958141
|
|
NM_001164508.2(NEB):c.12535-14C>T
|
rs2153958163
|
|
NM_001164508.2(NEB):c.12535-15C>G
|
|
|
NM_001164508.2(NEB):c.12535-16T>A
|
|
|
NM_001164508.2(NEB):c.12535-17T>G
|
|
|
NM_001164508.2(NEB):c.12535-18T>C
|
|
|
NM_001164508.2(NEB):c.12535-19A>G
|
|
|
NM_001164508.2(NEB):c.12535-3C>T
|
rs2153958050
|
|
NM_001164508.2(NEB):c.12538C>T (p.Leu4180=)
|
|
|
NM_001164508.2(NEB):c.12540G>A (p.Leu4180=)
|
|
|
NM_001164508.2(NEB):c.12543T>C (p.Tyr4181=)
|
|
|
NM_001164508.2(NEB):c.1254_1255del (p.Ser418fs)
|
|
|
NM_001164508.2(NEB):c.12550G>A (p.Ala4184Thr)
|
rs1553877049
|
|
NM_001164508.2(NEB):c.12554G>A (p.Trp4185Ter)
|
|
|
NM_001164508.2(NEB):c.12555del (p.Ala4184_Trp4185insTer)
|
rs2097759896
|
|
NM_001164508.2(NEB):c.12558_12568del (p.Asn4186fs)
|
|
|
NM_001164508.2(NEB):c.12561A>G (p.Lys4187=)
|
rs2153957983
|
|
NM_001164508.2(NEB):c.1257+13A>C
|
rs75320668
|
|
NM_001164508.2(NEB):c.1257+13A>G
|
|
|
NM_001164508.2(NEB):c.1257+13_1257+15del
|
|
|
NM_001164508.2(NEB):c.1257+16G>A
|
|
|
NM_001164508.2(NEB):c.1257+16G>T
|
|
|
NM_001164508.2(NEB):c.1257+19A>G
|
|
|
NM_001164508.2(NEB):c.1257+2T>G
|
rs2149365500
|
|
NM_001164508.2(NEB):c.1257+3A>G
|
|
|
NM_001164508.2(NEB):c.12572del (p.Asn4191fs)
|
|
|
NM_001164508.2(NEB):c.12573C>T (p.Asn4191=)
|
rs1382871208
|
|
NM_001164508.2(NEB):c.12576C>T (p.Ile4192=)
|
|
|
NM_001164508.2(NEB):c.1258-11T>C
|
|
|
NM_001164508.2(NEB):c.1258-12T>G
|
|
|
NM_001164508.2(NEB):c.1258-12_1258-8dup
|
|
|
NM_001164508.2(NEB):c.1258-14G>T
|
|
|
NM_001164508.2(NEB):c.1258-18G>A
|
|
|
NM_001164508.2(NEB):c.1258-4G>A
|
|
|
NM_001164508.2(NEB):c.1258-9G>A
|
|
|
NM_001164508.2(NEB):c.12591T>C (p.Asp4197=)
|
rs1553876898
|
|
NM_001164508.2(NEB):c.12594T>A (p.Thr4198=)
|
rs1253550964
|
|
NM_001164508.2(NEB):c.12594T>C (p.Thr4198=)
|
rs1253550964
|
|
NM_001164508.2(NEB):c.12597G>C (p.Pro4199=)
|
|
|
NM_001164508.2(NEB):c.12600G>A (p.Glu4200=)
|
|
|
NM_001164508.2(NEB):c.12600_12601del (p.Glu4200fs)
|
|
|
NM_001164508.2(NEB):c.12601A>T (p.Met4201Leu)
|
rs1553876833
|
|
NM_001164508.2(NEB):c.12604C>T (p.Leu4202=)
|
rs985777917
|
|
NM_001164508.2(NEB):c.12612C>A (p.Ala4204=)
|
|
|
NM_001164508.2(NEB):c.12612C>T (p.Ala4204=)
|
rs1579048112
|
|
NM_001164508.2(NEB):c.12615C>T (p.His4205=)
|
rs1579048021
|
|
NM_001164508.2(NEB):c.12621T>C (p.Asn4207=)
|
rs1579047904
|
|
NM_001164508.2(NEB):c.12624C>T (p.Ala4208=)
|
|
|
NM_001164508.2(NEB):c.12633C>T (p.Ile4211=)
|
rs2153957718
|
|
NM_001164508.2(NEB):c.12636C>T (p.Ser4212=)
|
rs1553876762
|
|
NM_001164508.2(NEB):c.12638A>G (p.Asn4213Ser)
|
rs2097758270
|
|
NM_001164508.2(NEB):c.12639+10A>G
|
|
|
NM_001164508.2(NEB):c.12639+12G>A
|
rs1240233792
|
|
NM_001164508.2(NEB):c.12639+14A>G
|
rs2153957603
|
|
NM_001164508.2(NEB):c.12639+16A>T
|
|
|
NM_001164508.2(NEB):c.12639+17T>C
|
|
|
NM_001164508.2(NEB):c.12639+1G>A
|
rs2097758221
|
|
NM_001164508.2(NEB):c.12639+2T>C
|
rs2153957684
|
|
NM_001164508.2(NEB):c.12639+4A>G
|
|
|
NM_001164508.2(NEB):c.12639+7G>A
|
|
|
NM_001164508.2(NEB):c.12639+7G>T
|
rs1457365633
|
|
NM_001164508.2(NEB):c.12639+8G>A
|
rs2153957654
|
|
NM_001164508.2(NEB):c.12639dup (p.Lys4214Ter)
|
|
|
NM_001164508.2(NEB):c.12640-11dup
|
|
|
NM_001164508.2(NEB):c.12640-13T>C
|
|
|
NM_001164508.2(NEB):c.12640-16T>C
|
|
|
NM_001164508.2(NEB):c.12640-19C>A
|
|
|
NM_001164508.2(NEB):c.12640-19C>T
|
|
|
NM_001164508.2(NEB):c.12640-1G>A
|
rs2097713999
|
|
NM_001164508.2(NEB):c.12640-23_12640-20del
|
|
|
NM_001164508.2(NEB):c.12640-6C>A
|
|
|
NM_001164508.2(NEB):c.12640-6C>G
|
rs1579019126
|
|
NM_001164508.2(NEB):c.12640-6C>T
|
rs1579019126
|
|
NM_001164508.2(NEB):c.12640-8C>T
|
|
|
NM_001164508.2(NEB):c.12640-9C>T
|
rs2097714656
|
|
NM_001164508.2(NEB):c.12645C>G (p.Leu4215=)
|
|
|
NM_001164508.2(NEB):c.12645C>T (p.Leu4215=)
|
rs2153953836
|
|
NM_001164508.2(NEB):c.12648C>G (p.Tyr4216Ter)
|
rs2097713802
|
|
NM_001164508.2(NEB):c.12648C>T (p.Tyr4216=)
|
rs2097713802
|
|
NM_001164508.2(NEB):c.12651A>G (p.Gln4217=)
|
rs2097713760
|
|
NM_001164508.2(NEB):c.12657C>T (p.Asp4219=)
|
rs2153953767
|
|
NM_001164508.2(NEB):c.12659G>A (p.Trp4220Ter)
|
rs2153953739
|
|
NM_001164508.2(NEB):c.12660G>A (p.Trp4220Ter)
|
|
|
NM_001164508.2(NEB):c.12662A>G (p.Asn4221Ser)
|
rs1553875590
|
|
NM_001164508.2(NEB):c.12669C>G (p.Ala4223=)
|
|
|
NM_001164508.2(NEB):c.1266T>C (p.Tyr422=)
|
|
|
NM_001164508.2(NEB):c.12672G>A (p.Lys4224=)
|
rs2153953596
|
|
NM_001164508.2(NEB):c.12673C>T (p.Gln4225Ter)
|
|
|
NM_001164508.2(NEB):c.1267A>G (p.Lys423Glu)
|
rs2099604411
|
|
NM_001164508.2(NEB):c.12681C>T (p.Gly4227=)
|
|
|
NM_001164508.2(NEB):c.12684T>G (p.Tyr4228Ter)
|
rs1553875421
|
|
NM_001164508.2(NEB):c.12686A>G (p.Asp4229Gly)
|
rs1553875409
|
|
NM_001164508.2(NEB):c.12687C>T (p.Asp4229=)
|
rs2153953490
|
|
NM_001164508.2(NEB):c.12699T>C (p.Asp4233=)
|
|
|
NM_001164508.2(NEB):c.1269A>G (p.Lys423=)
|
|
|
NM_001164508.2(NEB):c.126T>A (p.Tyr42Ter)
|
|
|
NM_001164508.2(NEB):c.126T>C (p.Tyr42=)
|
|
|
NM_001164508.2(NEB):c.12702C>T (p.Ala4234=)
|
|
|
NM_001164508.2(NEB):c.12709_12710del (p.Ile4237fs)
|
|
|
NM_001164508.2(NEB):c.12717C>T (p.His4239=)
|
rs1553875334
|
|
NM_001164508.2(NEB):c.12718G>T (p.Ala4240Ser)
|
rs561736266
|
|
NM_001164508.2(NEB):c.12720C>T (p.Ala4240=)
|
rs1579015882
|
|
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=)
|
rs772682280
|
|
NM_001164508.2(NEB):c.12726C>T (p.Ala4242=)
|
rs2153953306
|
|
NM_001164508.2(NEB):c.12730A>C (p.Arg4244=)
|
|
|
NM_001164508.2(NEB):c.12733G>T (p.Glu4245Ter)
|
rs2097711830
|
|
NM_001164508.2(NEB):c.12736del (p.Ile4246fs)
|
rs1176407542
|
|
NM_001164508.2(NEB):c.12738T>C (p.Ile4246=)
|
|
|
NM_001164508.2(NEB):c.12738del (p.Ile4246fs)
|
rs2097711696
|
|
NM_001164508.2(NEB):c.1273T>G (p.Ser425Ala)
|
rs1270235018
|
|
NM_001164508.2(NEB):c.12747+10C>T
|
rs2153953179
|
|
NM_001164508.2(NEB):c.12747+11T>C
|
|
|
NM_001164508.2(NEB):c.12747+13C>A
|
|
|
NM_001164508.2(NEB):c.12747+13C>T
|
|
|
NM_001164508.2(NEB):c.12747+14T>C
|
rs2153953167
|
|
NM_001164508.2(NEB):c.12747+15C>G
|
|
|
NM_001164508.2(NEB):c.12747+18_12747+22del
|
|
|
NM_001164508.2(NEB):c.12747+19T>G
|
|
|
NM_001164508.2(NEB):c.12747+20C>T
|
|
|
NM_001164508.2(NEB):c.12747+2T>C
|
|
|
NM_001164508.2(NEB):c.12747+5G>A
|
rs1251007091
|
|
NM_001164508.2(NEB):c.12747+7T>G
|
rs2153953193
|
|
NM_001164508.2(NEB):c.12748-10A>C
|
|
|
NM_001164508.2(NEB):c.12748-10A>G
|
rs1553872572
|
|
NM_001164508.2(NEB):c.12748-12T>C
|
|
|
NM_001164508.2(NEB):c.12748-12T>G
|
|
|
NM_001164508.2(NEB):c.12748-18G>C
|
|
|
NM_001164508.2(NEB):c.12748-18G>T
|
|
|
NM_001164508.2(NEB):c.12748-1G>A
|
|
|
NM_001164508.2(NEB):c.12748-1_12761del
|
rs2153940927
|
|
NM_001164508.2(NEB):c.12748-20A>G
|
|
|
NM_001164508.2(NEB):c.12748-4T>C
|
rs2153940982
|
|
NM_001164508.2(NEB):c.12748-5T>C
|
rs2153941009
|
|
NM_001164508.2(NEB):c.12748-6C>T
|
rs2153941027
|
|
NM_001164508.2(NEB):c.12748-7A>G
|
|
|
NM_001164508.2(NEB):c.12748-8T>C
|
|
|
NM_001164508.2(NEB):c.12748-9C>T
|
rs2153941069
|
|
NM_001164508.2(NEB):c.12750C>T (p.Tyr4250=)
|
rs2153940966
|
|
NM_001164508.2(NEB):c.12753A>G (p.Lys4251=)
|
rs2153940953
|
|
NM_001164508.2(NEB):c.12756C>T (p.Tyr4252=)
|
|
|
NM_001164508.2(NEB):c.12762A>G (p.Glu4254=)
|
|
|
NM_001164508.2(NEB):c.12765T>C (p.Gly4255=)
|
|
|
NM_001164508.2(NEB):c.12767dup (p.Tyr4256Ter)
|
|
|
NM_001164508.2(NEB):c.12768C>T (p.Tyr4256=)
|
rs2153940868
|
|
NM_001164508.2(NEB):c.12774G>A (p.Lys4258=)
|
rs2153940816
|
|
NM_001164508.2(NEB):c.12777A>G (p.Gln4259=)
|
rs2153940796
|
|
NM_001164508.2(NEB):c.12782delinsTAACCTTCCACCAAC (p.Gly4261fs)
|
rs2153940785
|
|
NM_001164508.2(NEB):c.12783C>T (p.Gly4261=)
|
rs2153940770
|
|
NM_001164508.2(NEB):c.12784C>T (p.His4262Tyr)
|
rs2097628697
|
|
NM_001164508.2(NEB):c.12786C>T (p.His4262=)
|
rs2153940731
|
|
NM_001164508.2(NEB):c.127G>C (p.Glu43Gln)
|
rs1578040162
|
|
NM_001164508.2(NEB):c.12800G>A (p.Arg4267His)
|
rs1049044616
|
|
NM_001164508.2(NEB):c.12801C>T (p.Arg4267=)
|
rs2097627587
|
|
NM_001164508.2(NEB):c.12804C>T (p.Thr4268=)
|
rs2153940607
|
|
NM_001164508.2(NEB):c.12807A>C (p.Leu4269=)
|
rs1211515336
|
|
NM_001164508.2(NEB):c.12807A>G (p.Leu4269=)
|
rs1211515336
|
|
NM_001164508.2(NEB):c.12807A>T (p.Leu4269=)
|
rs1211515336
|
|
NM_001164508.2(NEB):c.12808C>A (p.Gln4270Lys)
|
rs1057524648
|
|
NM_001164508.2(NEB):c.12813T>C (p.Asp4271=)
|
rs2097626924
|
|
NM_001164508.2(NEB):c.12819C>G (p.Pro4273=)
|
|
|
NM_001164508.2(NEB):c.12819del (p.Lys4274fs)
|
rs2153940505
|
|
NM_001164508.2(NEB):c.12820A>T (p.Lys4274Ter)
|
|
|
NM_001164508.2(NEB):c.12822G>A (p.Lys4274=)
|
rs994912801
|
|
NM_001164508.2(NEB):c.12825A>T (p.Ser4275=)
|
|
|
NM_001164508.2(NEB):c.12828A>G (p.Val4276=)
|
rs2153940460
|
|
NM_001164508.2(NEB):c.12832G>T (p.Ala4278Ser)
|
rs1578941825
|
|
NM_001164508.2(NEB):c.12840T>C (p.His4280=)
|
rs2153940378
|
|
NM_001164508.2(NEB):c.12843T>A (p.Ala4281=)
|
|
|
NM_001164508.2(NEB):c.12843T>G (p.Ala4281=)
|
|
|
NM_001164508.2(NEB):c.12849G>A (p.Lys4283=)
|
|
|
NM_001164508.2(NEB):c.12852C>A (p.Ile4284=)
|
|
|
NM_001164508.2(NEB):c.12864A>G (p.Arg4288=)
|
rs1340260167
|
|
NM_001164508.2(NEB):c.12865del (p.Glu4289fs)
|
rs2153940243
|
|
NM_001164508.2(NEB):c.12870T>C (p.Tyr4290=)
|
rs2153940218
|
|
NM_001164508.2(NEB):c.12870_12871del (p.Tyr4290_Lys4291delinsTer)
|
|
|
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=)
|
rs1578940609
|
|
NM_001164508.2(NEB):c.12879T>A (p.Ala4293=)
|
rs2153940149
|
|
NM_001164508.2(NEB):c.1287T>C (p.Asp429=)
|
|
|
NM_001164508.2(NEB):c.128A>C (p.Glu43Ala)
|
rs752660824
|
|
NM_001164508.2(NEB):c.12902A>T (p.His4301Leu)
|
rs1553872062
|
|
NM_001164508.2(NEB):c.12906C>T (p.Asn4302=)
|
|
|
NM_001164508.2(NEB):c.12909A>C (p.Thr4303=)
|
rs1578939596
|
|
NM_001164508.2(NEB):c.12909A>G (p.Thr4303=)
|
|
|
NM_001164508.2(NEB):c.12911C>T (p.Pro4304Leu)
|
rs1456001729
|
|
NM_001164508.2(NEB):c.12912G>A (p.Pro4304=)
|
rs886038430
|
|
NM_001164508.2(NEB):c.12912G>C (p.Pro4304=)
|
|
|
NM_001164508.2(NEB):c.12912G>T (p.Pro4304=)
|
rs886038430
|
|
NM_001164508.2(NEB):c.12913T>C (p.Leu4305=)
|
|
|
NM_001164508.2(NEB):c.12915G>A (p.Leu4305=)
|
|
|
NM_001164508.2(NEB):c.12918C>T (p.Asp4306=)
|
rs2153939944
|
|
NM_001164508.2(NEB):c.12922A>G (p.Met4308Val)
|
rs1553871982
|
|
NM_001164508.2(NEB):c.12927A>G (p.Ser4309=)
|
rs2153939850
|
|
NM_001164508.2(NEB):c.12930T>C (p.Ile4310=)
|
rs2153939808
|
|
NM_001164508.2(NEB):c.12933T>C (p.Val4311=)
|
rs1578938742
|
|
NM_001164508.2(NEB):c.1293G>A (p.Leu431=)
|
|
|
NM_001164508.2(NEB):c.12951G>A (p.Gln4317=)
|
rs2153939690
|
|
NM_001164508.2(NEB):c.12954C>G (p.Val4318=)
|
rs1553871881
|
|
NM_001164508.2(NEB):c.12954C>T (p.Val4318=)
|
rs1553871881
|
|
NM_001164508.2(NEB):c.12957G>A (p.Leu4319=)
|
|
|
NM_001164508.2(NEB):c.12957G>C (p.Leu4319=)
|
rs2153939636
|
|
NM_001164508.2(NEB):c.12957G>T (p.Leu4319=)
|
rs2153939636
|
|
NM_001164508.2(NEB):c.12963C>T (p.Ser4321=)
|
rs1286358276
|
|
NM_001164508.2(NEB):c.12969T>C (p.Ile4323=)
|
|
|
NM_001164508.2(NEB):c.12977G>A (p.Arg4326His)
|
rs1429486273
|
|
NM_001164508.2(NEB):c.12978C>T (p.Arg4326=)
|
|
|
NM_001164508.2(NEB):c.12981T>C (p.Asn4327=)
|
|
|
NM_001164508.2(NEB):c.12984T>G (p.Tyr4328Ter)
|
|
|
NM_001164508.2(NEB):c.12985C>T (p.Leu4329=)
|
|
|
NM_001164508.2(NEB):c.12990C>T (p.His4330=)
|
rs2153939406
|
|
NM_001164508.2(NEB):c.12991C>T (p.Gln4331Ter)
|
rs1326513178
|
|
NM_001164508.2(NEB):c.12993G>A (p.Gln4331=)
|
rs2153939382
|
|
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter)
|
rs2153939368
|
|
NM_001164508.2(NEB):c.12998C>A (p.Thr4333Lys)
|
rs1319674362
|
|
NM_001164508.2(NEB):c.12999G>A (p.Thr4333=)
|
rs1384738774
|
|
NM_001164508.2(NEB):c.12999G>T (p.Thr4333=)
|
rs1384738774
|
|
NM_001164508.2(NEB):c.129G>T (p.Glu43Asp)
|
rs1290183134
|
|
NM_001164508.2(NEB):c.13005G>A (p.Leu4335=)
|
rs2153939252
|
|
NM_001164508.2(NEB):c.13008A>G (p.Pro4336=)
|
rs2097619223
|
|
NM_001164508.2(NEB):c.13011T>C (p.Asp4337=)
|
rs2153939192
|
|
NM_001164508.2(NEB):c.13017C>T (p.Asn4339=)
|
rs1165436206
|
|
NM_001164508.2(NEB):c.13020T>C (p.Asp4340=)
|
rs2153939124
|
|
NM_001164508.2(NEB):c.13023G>A (p.Val4341=)
|
rs2153939102
|
|
NM_001164508.2(NEB):c.13023G>T (p.Val4341=)
|
|
|
NM_001164508.2(NEB):c.13026C>T (p.Ile4342=)
|
rs1421466863
|
|
NM_001164508.2(NEB):c.13029G>A (p.Gln4343=)
|
rs2153939066
|
|
NM_001164508.2(NEB):c.13038A>G (p.Lys4346=)
|
rs2153939047
|
|
NM_001164508.2(NEB):c.1303G>A (p.Val435Ile)
|
|
|
NM_001164508.2(NEB):c.1303G>T (p.Val435Leu)
|
rs763255052
|
|
NM_001164508.2(NEB):c.13048C>T (p.Leu4350=)
|
rs1578935610
|
|
NM_001164508.2(NEB):c.13050G>A (p.Leu4350=)
|
rs2153938949
|
|
NM_001164508.2(NEB):c.13052A>G (p.Gln4351Arg)
|
rs1553871396
|
|
NM_001164508.2(NEB):c.13053G>A (p.Gln4351=)
|
rs2097617835
|
|
NM_001164508.2(NEB):c.13056C>A (p.Ser4352Arg)
|
rs1468240932
|
|
NM_001164508.2(NEB):c.13056C>T (p.Ser4352=)
|
rs1468240932
|
|
NM_001164508.2(NEB):c.13059+11T>C
|
rs2153938707
|
|
NM_001164508.2(NEB):c.13059+12A>G
|
|
|
NM_001164508.2(NEB):c.13059+13T>C
|
|
|
NM_001164508.2(NEB):c.13059+15G>A
|
|
|
NM_001164508.2(NEB):c.13059+15G>C
|
rs1272670020
|
|
NM_001164508.2(NEB):c.13059+15G>T
|
|
|
NM_001164508.2(NEB):c.13059+16C>G
|
|
|
NM_001164508.2(NEB):c.13059+18A>C
|
|
|
NM_001164508.2(NEB):c.13059+5G>A
|
|
|
NM_001164508.2(NEB):c.13059+7A>G
|
rs2153938761
|
|
NM_001164508.2(NEB):c.13059+7AT[4]
|
|
|
NM_001164508.2(NEB):c.13060-10C>T
|
rs2097571785
|
|
NM_001164508.2(NEB):c.13060-11C>A
|
|
|
NM_001164508.2(NEB):c.13060-13C>T
|
|
|
NM_001164508.2(NEB):c.13060-14T>C
|
|
|
NM_001164508.2(NEB):c.13060-15C>T
|
|
|
NM_001164508.2(NEB):c.13060-17T>G
|
|
|
NM_001164508.2(NEB):c.13060-18T>C
|
|
|
NM_001164508.2(NEB):c.13060-19G>A
|
|
|
NM_001164508.2(NEB):c.13060-2A>G
|
rs2097571378
|
|
NM_001164508.2(NEB):c.13060-6A>C
|
rs1195747738
|
|
NM_001164508.2(NEB):c.13060-7C>T
|
|
|
NM_001164508.2(NEB):c.13068C>A (p.Tyr4356Ter)
|
|
|
NM_001164508.2(NEB):c.13068C>T (p.Tyr4356=)
|
rs2153931607
|
|
NM_001164508.2(NEB):c.13070_13071del (p.Lys4357fs)
|
|
|
NM_001164508.2(NEB):c.13071G>A (p.Lys4357=)
|
rs2153931565
|
|
NM_001164508.2(NEB):c.13074A>G (p.Ser4358=)
|
rs2097571157
|
|
NM_001164508.2(NEB):c.13077C>T (p.Asp4359=)
|
rs199886070
|
|
NM_001164508.2(NEB):c.13078C>T (p.Leu4360=)
|
rs761799512
|
|
NM_001164508.2(NEB):c.1307dup (p.Ser437fs)
|
|
|
NM_001164508.2(NEB):c.13080G>A (p.Leu4360=)
|
rs1346547526
|
|
NM_001164508.2(NEB):c.13081G>T (p.Glu4361Ter)
|
|
|
NM_001164508.2(NEB):c.13083A>G (p.Glu4361=)
|
rs2153931465
|
|
NM_001164508.2(NEB):c.13085G>A (p.Trp4362Ter)
|
rs1449776440
|
|
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter)
|
rs1278785558
|
|
NM_001164508.2(NEB):c.13101A>G (p.Gly4367=)
|
rs1442619838
|
|
NM_001164508.2(NEB):c.13101A>T (p.Gly4367=)
|
|
|
NM_001164508.2(NEB):c.13103G>A (p.Trp4368Ter)
|
rs2153931339
|
|
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=)
|
rs147579763
|
|
NM_001164508.2(NEB):c.13107G>A (p.Leu4369=)
|
rs1310978096
|
|
NM_001164508.2(NEB):c.1310G>A (p.Ser437Asn)
|
rs1466400136
|
|
NM_001164508.2(NEB):c.13119T>C (p.Ser4373=)
|
|
|
NM_001164508.2(NEB):c.13123G>T (p.Glu4375Ter)
|
|
|
NM_001164508.2(NEB):c.13128G>A (p.Val4376=)
|
rs760864074
|
|
NM_001164508.2(NEB):c.13131del (p.Met4377fs)
|
|
|
NM_001164508.2(NEB):c.13132A>T (p.Arg4378Ter)
|
|
|
NM_001164508.2(NEB):c.13134A>G (p.Arg4378=)
|
rs1269546220
|
|
NM_001164508.2(NEB):c.13137G>A (p.Val4379=)
|
rs2153931034
|
|
NM_001164508.2(NEB):c.13140G>A (p.Lys4380=)
|
rs1486264146
|
|
NM_001164508.2(NEB):c.13142del (p.Asn4381fs)
|
rs2153930968
|
|
NM_001164508.2(NEB):c.13143T>C (p.Asn4381=)
|
rs1578893798
|
|
NM_001164508.2(NEB):c.13146C>T (p.Ala4382=)
|
|
|
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)
|
rs1212374733
|
|
NM_001164508.2(NEB):c.13148del (p.Gln4383fs)
|
|
|
NM_001164508.2(NEB):c.13149G>A (p.Gln4383=)
|
rs1427606021
|
|
NM_001164508.2(NEB):c.1314C>G (p.Phe438Leu)
|
rs765769921
|
|
NM_001164508.2(NEB):c.1314C>T (p.Phe438=)
|
rs765769921
|
|
NM_001164508.2(NEB):c.13152T>C (p.Asn4384=)
|
rs2153930870
|
|
NM_001164508.2(NEB):c.13153_13156del (p.Asn4384_Leu4385insTer)
|
|
|
NM_001164508.2(NEB):c.13157T>A (p.Leu4386Ter)
|
rs2153930856
|
|
NM_001164508.2(NEB):c.1315G>C (p.Glu439Gln)
|
|
|
NM_001164508.2(NEB):c.13161T>C (p.Asn4387=)
|
rs2153930837
|
|
NM_001164508.2(NEB):c.13167G>A (p.Arg4389=)
|
rs1283113332
|
|
NM_001164508.2(NEB):c.1316A>G (p.Glu439Gly)
|
rs1553608272
|
|
NM_001164508.2(NEB):c.13170G>A (p.Leu4390=)
|
rs1224185514
|
|
NM_001164508.2(NEB):c.13170G>T (p.Leu4390=)
|
rs1224185514
|
|
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter)
|
rs2153930733
|
|
NM_001164508.2(NEB):c.13182G>A (p.Lys4394=)
|
rs1392218250
|
|
NM_001164508.2(NEB):c.13185T>C (p.Pro4395=)
|
rs1344892267
|
|
NM_001164508.2(NEB):c.13185T>G (p.Pro4395=)
|
|
|
NM_001164508.2(NEB):c.13186G>T (p.Glu4396Ter)
|
|
|
NM_001164508.2(NEB):c.13188G>A (p.Glu4396=)
|
rs1160127965
|
|
NM_001164508.2(NEB):c.13191C>G (p.Ala4397=)
|
rs2153930542
|
|
NM_001164508.2(NEB):c.13191C>T (p.Ala4397=)
|
rs2153930542
|
|
NM_001164508.2(NEB):c.13194C>A (p.Leu4398=)
|
rs2153930518
|
|
NM_001164508.2(NEB):c.13194C>G (p.Leu4398=)
|
|
|
NM_001164508.2(NEB):c.13197A>G (p.Lys4399=)
|
rs2153930494
|
|
NM_001164508.2(NEB):c.13200C>T (p.Phe4400=)
|
|
|
NM_001164508.2(NEB):c.13203C>A (p.Thr4401=)
|
|
|
NM_001164508.2(NEB):c.13203C>T (p.Thr4401=)
|
|
|
NM_001164508.2(NEB):c.13206C>T (p.Ser4402=)
|
rs2153930427
|
|
NM_001164508.2(NEB):c.13212T>C (p.Val4404=)
|
|
|
NM_001164508.2(NEB):c.13215C>T (p.Asp4405=)
|
|
|
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=)
|
rs1553867144
|
|
NM_001164508.2(NEB):c.13218C>G (p.Thr4406=)
|
rs1553867144
|
|
NM_001164508.2(NEB):c.13218C>T (p.Thr4406=)
|
rs1553867144
|
|
NM_001164508.2(NEB):c.13220del (p.Pro4407fs)
|
rs2153930361
|
|
NM_001164508.2(NEB):c.13230C>T (p.Ile4410=)
|
rs1488837816
|
|
NM_001164508.2(NEB):c.13233G>A (p.Gln4411=)
|
|
|
NM_001164508.2(NEB):c.13236A>C (p.Ala4412=)
|
|
|
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=)
|
rs1578890458
|
|
NM_001164508.2(NEB):c.13239G>A (p.Lys4413=)
|
rs2153930230
|
|
NM_001164508.2(NEB):c.1323A>G (p.Pro441=)
|
rs2149359721
|
|
NM_001164508.2(NEB):c.13242C>A (p.Ile4414=)
|
rs2097567357
|
|
NM_001164508.2(NEB):c.13245T>C (p.Asn4415=)
|
rs2153930186
|
|
NM_001164508.2(NEB):c.13248T>C (p.Ala4416=)
|
rs1553866979
|
|
NM_001164508.2(NEB):c.13251A>G (p.Val4417=)
|
rs1246456851
|
|
NM_001164508.2(NEB):c.13251A>T (p.Val4417=)
|
|
|
NM_001164508.2(NEB):c.13257C>A (p.Ile4419=)
|
rs1578890171
|
|
NM_001164508.2(NEB):c.13257C>T (p.Ile4419=)
|
rs1578890171
|
|
NM_001164508.2(NEB):c.13263+10G>A
|
rs2153929949
|
|
NM_001164508.2(NEB):c.13263+11G>A
|
|
|
NM_001164508.2(NEB):c.13263+13G>A
|
|
|
NM_001164508.2(NEB):c.13263+14G>A
|
|
|
NM_001164508.2(NEB):c.13263+14G>C
|
|
|
NM_001164508.2(NEB):c.13263+19T>C
|
|
|
NM_001164508.2(NEB):c.13263+19T>G
|
|
|
NM_001164508.2(NEB):c.13263+20G>T
|
|
|
NM_001164508.2(NEB):c.13263+4A>G
|
rs2097566924
|
|
NM_001164508.2(NEB):c.13263+8C>A
|
rs1553866957
|
|
NM_001164508.2(NEB):c.13263+8C>T
|
rs1553866957
|
|
NM_001164508.2(NEB):c.13264-10T>C
|
|
|
NM_001164508.2(NEB):c.13264-11A>G
|
|
|
NM_001164508.2(NEB):c.13264-12C>G
|
|
|
NM_001164508.2(NEB):c.13264-13T>C
|
|
|
NM_001164508.2(NEB):c.13264-13dup
|
|
|
NM_001164508.2(NEB):c.13264-16T>C
|
rs2153925816
|
|
NM_001164508.2(NEB):c.13264-16T>G
|
|
|
NM_001164508.2(NEB):c.13264-17T>C
|
|
|
NM_001164508.2(NEB):c.13264-17T>G
|
|
|
NM_001164508.2(NEB):c.13264-18G>A
|
rs886038432
|
|
NM_001164508.2(NEB):c.13264-18G>C
|
|
|
NM_001164508.2(NEB):c.13264-18G>T
|
|
|
NM_001164508.2(NEB):c.13264-19C>T
|
|
|
NM_001164508.2(NEB):c.13264-4C>A
|
|
|
NM_001164508.2(NEB):c.13264-4C>T
|
rs2153925657
|
|
NM_001164508.2(NEB):c.13264-5C>A
|
rs1578873942
|
|
NM_001164508.2(NEB):c.13264-5C>T
|
rs1578873942
|
|
NM_001164508.2(NEB):c.13264-6T>C
|
rs2153925717
|
|
NM_001164508.2(NEB):c.13264-6dup
|
|
|
NM_001164508.2(NEB):c.13264-7T>C
|
|
|
NM_001164508.2(NEB):c.13264-9T>A
|
rs1578874426
|
|
NM_001164508.2(NEB):c.13264-9T>C
|
rs1578874426
|
|
NM_001164508.2(NEB):c.13266A>G (p.Pro4422=)
|
rs2153925623
|
|
NM_001164508.2(NEB):c.13267T>C (p.Leu4423=)
|
rs2153925607
|
|
NM_001164508.2(NEB):c.13268T>A (p.Leu4423Ter)
|
|
|
NM_001164508.2(NEB):c.13269G>A (p.Leu4423=)
|
rs2153925593
|
|
NM_001164508.2(NEB):c.1326C>T (p.Tyr442=)
|
|
|
NM_001164508.2(NEB):c.13275C>G (p.Arg4425=)
|
rs1382032864
|
|
NM_001164508.2(NEB):c.13275C>T (p.Arg4425=)
|
rs1382032864
|
|
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn)
|
rs876657540
|
|
NM_001164508.2(NEB):c.13281C>A (p.Ala4427=)
|
|
|
NM_001164508.2(NEB):c.13281C>G (p.Ala4427=)
|
|
|
NM_001164508.2(NEB):c.13281C>T (p.Ala4427=)
|
rs2153925456
|
|
NM_001164508.2(NEB):c.13283G>A (p.Trp4428Ter)
|
|
|
NM_001164508.2(NEB):c.13285G>T (p.Glu4429Ter)
|
rs2097550591
|
|
NM_001164508.2(NEB):c.13287G>A (p.Glu4429=)
|
|
|
NM_001164508.2(NEB):c.13290A>G (p.Lys4430=)
|
|
|
NM_001164508.2(NEB):c.13292del (p.Glu4431fs)
|
|
|
NM_001164508.2(NEB):c.13293G>A (p.Glu4431=)
|
rs2153925421
|
|
NM_001164508.2(NEB):c.13296G>A (p.Lys4432=)
|
rs2153925400
|
|
NM_001164508.2(NEB):c.1329T>C (p.His443=)
|
rs1235888148
|
|
NM_001164508.2(NEB):c.13302T>C (p.Asn4434=)
|
rs2153925383
|
|
NM_001164508.2(NEB):c.13308C>T (p.Asn4436=)
|
rs1553865962
|
|
NM_001164508.2(NEB):c.13311G>A (p.Val4437=)
|
|
|
NM_001164508.2(NEB):c.13314A>C (p.Pro4438=)
|
|
|
NM_001164508.2(NEB):c.13314A>G (p.Pro4438=)
|
rs1272435160
|
|
NM_001164508.2(NEB):c.13317T>C (p.Ala4439=)
|
rs1578873204
|
|
NM_001164508.2(NEB):c.13323_13324insGCAATGTGAACGTGCTAATGTGAACGTG (p.Pro4442delinsAlaMetTer)
|
rs2153925252
|
|
NM_001164508.2(NEB):c.13326C>G (p.Pro4442=)
|
|
|
NM_001164508.2(NEB):c.13326C>T (p.Pro4442=)
|
rs2153925229
|
|
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=)
|
rs1578872999
|
|
NM_001164508.2(NEB):c.13328del (p.Leu4443fs)
|
rs2153925181
|
|
NM_001164508.2(NEB):c.13333C>T (p.Leu4445=)
|
rs2153925131
|
|
NM_001164508.2(NEB):c.13335G>A (p.Leu4445=)
|
|
|
NM_001164508.2(NEB):c.1333C>T (p.His445Tyr)
|
rs771832822
|
|
NM_001164508.2(NEB):c.1333del (p.His445fs)
|
rs1576704575
|
|
NM_001164508.2(NEB):c.13341C>G (p.Ser4447=)
|
|
|
NM_001164508.2(NEB):c.13341_13362del (p.Lys4448fs)
|
rs2153924986
|
|
NM_001164508.2(NEB):c.13347C>T (p.Ile4449=)
|
|
|
NM_001164508.2(NEB):c.13347del (p.Asn4450fs)
|
rs2153925061
|
|
NM_001164508.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser)
|
rs1553865895
|
|
NM_001164508.2(NEB):c.13350_13353delinsCGCT (p.Asn4450_Ala4451=)
|
rs1578872605
|
|
NM_001164508.2(NEB):c.13353_13357delinsTCTGT (p.Gln4453Ter)
|
|
|
NM_001164508.2(NEB):c.13356G>A (p.Leu4452=)
|
|
|
NM_001164508.2(NEB):c.13362C>A (p.Ile4454=)
|
|
|
NM_001164508.2(NEB):c.13362C>T (p.Ile4454=)
|
rs1553865873
|
|
NM_001164508.2(NEB):c.13365C>T (p.Ser4455=)
|
rs2153924952
|
|
NM_001164508.2(NEB):c.13367A>G (p.Asn4456Ser)
|
rs2097549978
|
|
NM_001164508.2(NEB):c.13368+10C>T
|
|
|
NM_001164508.2(NEB):c.13368+10_13368+11inv
|
|
|
NM_001164508.2(NEB):c.13368+11A>G
|
rs112260335
|
|
NM_001164508.2(NEB):c.13368+15A>G
|
|
|
NM_001164508.2(NEB):c.13368+17C>A
|
rs2153924717
|
|
NM_001164508.2(NEB):c.13368+17C>T
|
|
|
NM_001164508.2(NEB):c.13368+18A>G
|
|
|
NM_001164508.2(NEB):c.13368+18A>T
|
|
|
NM_001164508.2(NEB):c.13368+1G>A
|
|
|
NM_001164508.2(NEB):c.13368+20T>C
|
|
|
NM_001164508.2(NEB):c.13368+20T>G
|
rs2153924683
|
|
NM_001164508.2(NEB):c.13368+6A>G
|
rs886038433
|
|
NM_001164508.2(NEB):c.13368+8_13368+11delinsCGCG
|
rs2153924824
|
|
NM_001164508.2(NEB):c.13368+8_13368+11delinsGCG
|
rs2153924856
|
|
NM_001164508.2(NEB):c.13368+9_13368+11delinsACG
|
rs2153924786
|
|
NM_001164508.2(NEB):c.13369-10C>A
|
|
|
NM_001164508.2(NEB):c.13369-14C>T
|
|
|
NM_001164508.2(NEB):c.13369-14CT[2]
|
rs1553865749
|
|
NM_001164508.2(NEB):c.13369-15A>C
|
|
|
NM_001164508.2(NEB):c.13369-17G>A
|
|
|
NM_001164508.2(NEB):c.13369-17G>T
|
rs2153924464
|
|
NM_001164508.2(NEB):c.13369-20_13369-12dup
|
|
|
NM_001164508.2(NEB):c.13369-2A>C
|
|
|
NM_001164508.2(NEB):c.13369-2A>G
|
|
|
NM_001164508.2(NEB):c.13369-2_13374del
|
|
|
NM_001164508.2(NEB):c.13369-8G>A
|
rs2153924322
|
|
NM_001164508.2(NEB):c.13369-9T>C
|
rs1553865725
|
|
NM_001164508.2(NEB):c.13369-9del
|
|
|
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr)
|
rs1057521174
|
|
NM_001164508.2(NEB):c.13374C>A (p.Arg4458=)
|
rs1578869899
|
|
NM_001164508.2(NEB):c.13374C>T (p.Arg4458=)
|
rs1578869899
|
|
NM_001164508.2(NEB):c.13380G>A (p.Gln4460=)
|
rs2153924160
|
|
NM_001164508.2(NEB):c.13381C>T (p.Gln4461Ter)
|
|
|
NM_001164508.2(NEB):c.13385del (p.Ala4462fs)
|
|
|
NM_001164508.2(NEB):c.13386T>G (p.Ala4462=)
|
rs1578869691
|
|
NM_001164508.2(NEB):c.13389G>A (p.Trp4463Ter)
|
rs2153924098
|
|
NM_001164508.2(NEB):c.13392A>G (p.Glu4464=)
|
rs2153924071
|
|
NM_001164508.2(NEB):c.13395T>C (p.Asp4465=)
|
rs2153924042
|
|
NM_001164508.2(NEB):c.13398C>A (p.Val4466=)
|
rs2153924015
|
|
NM_001164508.2(NEB):c.13399A>T (p.Lys4467Ter)
|
|
|
NM_001164508.2(NEB):c.133_146del (p.Ser45fs)
|
rs1321522421
|
|
NM_001164508.2(NEB):c.13401G>A (p.Lys4467=)
|
|
|
NM_001164508.2(NEB):c.13406C>T (p.Thr4469Ile)
|
rs1192545815
|
|
NM_001164508.2(NEB):c.13407T>C (p.Thr4469=)
|
rs2153923967
|
|
NM_001164508.2(NEB):c.13407T>G (p.Thr4469=)
|
rs2153923967
|
|
NM_001164508.2(NEB):c.13407_13416del (p.Gly4470fs)
|
rs2153923895
|
|
NM_001164508.2(NEB):c.13411dup (p.Tyr4471fs)
|
|
|
NM_001164508.2(NEB):c.13413T>A (p.Tyr4471Ter)
|
|
|
NM_001164508.2(NEB):c.13413T>C (p.Tyr4471=)
|
rs2153923925
|
|
NM_001164508.2(NEB):c.13417del (p.Leu4473fs)
|
rs2153923874
|
|
NM_001164508.2(NEB):c.13419G>A (p.Leu4473=)
|
rs2153923838
|
|
NM_001164508.2(NEB):c.13420C>A (p.Arg4474=)
|
rs1578869371
|
|
NM_001164508.2(NEB):c.13420C>T (p.Arg4474Ter)
|
rs1578869371
|
|
NM_001164508.2(NEB):c.13422A>C (p.Arg4474=)
|
rs2153923773
|
|
NM_001164508.2(NEB):c.13425A>G (p.Ala4475=)
|
|
|
NM_001164508.2(NEB):c.13428T>C (p.Asp4476=)
|
rs1578869264
|
|
NM_001164508.2(NEB):c.13431C>T (p.Ala4477=)
|
rs2153923722
|
|
NM_001164508.2(NEB):c.13434T>C (p.Ile4478=)
|
|
|
NM_001164508.2(NEB):c.13437G>A (p.Gly4479=)
|
rs2153923647
|
|
NM_001164508.2(NEB):c.13437G>C (p.Gly4479=)
|
|
|
NM_001164508.2(NEB):c.13437del (p.Ile4480fs)
|
|
|
NM_001164508.2(NEB):c.13441C>T (p.Gln4481Ter)
|
rs2097548467
|
|
NM_001164508.2(NEB):c.13446T>C (p.His4482=)
|
rs2153923589
|
|
NM_001164508.2(NEB):c.13449C>G (p.Ala4483=)
|
rs2153923557
|
|
NM_001164508.2(NEB):c.13452G>A (p.Lys4484=)
|
rs2153923526
|
|
NM_001164508.2(NEB):c.13456T>A (p.Ser4486Thr)
|
rs886038434
|
|
NM_001164508.2(NEB):c.13457C>T (p.Ser4486Phe)
|
rs2097548401
|
|
NM_001164508.2(NEB):c.13458C>G (p.Ser4486=)
|
rs2153923428
|
|
NM_001164508.2(NEB):c.13458C>T (p.Ser4486=)
|
rs2153923428
|
|
NM_001164508.2(NEB):c.13459A>C (p.Arg4487=)
|
|
|
NM_001164508.2(NEB):c.13460G>T (p.Arg4487Met)
|
rs1553865625
|
|
NM_001164508.2(NEB):c.13461G>A (p.Arg4487=)
|
rs2153923374
|
|
NM_001164508.2(NEB):c.13464T>C (p.Asp4488=)
|
rs2153923341
|
|
NM_001164508.2(NEB):c.13465A>C (p.Ile4489Leu)
|
rs1553865611
|
|
NM_001164508.2(NEB):c.13466T>C (p.Ile4489Thr)
|
rs1433188091
|
|
NM_001164508.2(NEB):c.13467T>C (p.Ile4489=)
|
rs2153923267
|
|
NM_001164508.2(NEB):c.13475_13476delinsTT (p.Asp4492Val)
|
rs1553865579
|
|
NM_001164508.2(NEB):c.13476+10C>A
|
rs1578868114
|
|
NM_001164508.2(NEB):c.13476+10C>T
|
rs1578868114
|
|
NM_001164508.2(NEB):c.13476+11C>A
|
|
|
NM_001164508.2(NEB):c.13476+11C>T
|
|
|
NM_001164508.2(NEB):c.13476+13C>T
|
|
|
NM_001164508.2(NEB):c.13476+14C>T
|
|
|
NM_001164508.2(NEB):c.13476+15T>C
|
|
|
NM_001164508.2(NEB):c.13476+16_13476+17insA
|
|
|
NM_001164508.2(NEB):c.13476+16_13476+17insG
|
rs1064794509
|
|
NM_001164508.2(NEB):c.13476+17C>G
|
|
|
NM_001164508.2(NEB):c.13476+18C>T
|
|
|
NM_001164508.2(NEB):c.13476+19C>A
|
|
|
NM_001164508.2(NEB):c.13476+1G>A
|
rs1578868550
|
|
NM_001164508.2(NEB):c.13476+6A>C
|
|
|
NM_001164508.2(NEB):c.13476+7G>A
|
rs1553865548
|
|
NM_001164508.2(NEB):c.13476+7G>C
|
|
|
NM_001164508.2(NEB):c.13476+7dup
|
rs2153923160
|
|
NM_001164508.2(NEB):c.13476+8C>T
|
rs2153923069
|
|
NM_001164508.2(NEB):c.13477-10C>T
|
rs2153903738
|
|
NM_001164508.2(NEB):c.13477-11A>G
|
|
|
NM_001164508.2(NEB):c.13477-12C>A
|
|
|
NM_001164508.2(NEB):c.13477-12C>T
|
rs2153903775
|
|
NM_001164508.2(NEB):c.13477-14T>C
|
rs2153903799
|
|
NM_001164508.2(NEB):c.13477-19T>C
|
|
|
NM_001164508.2(NEB):c.13477-20T>A
|
|
|
NM_001164508.2(NEB):c.13477-2A>G
|
rs2153903681
|
|
NM_001164508.2(NEB):c.13477-2A>T
|
|
|
NM_001164508.2(NEB):c.13477-7C>T
|
rs1328191142
|
|
NM_001164508.2(NEB):c.13477-9A>G
|
rs1553862786
|
|
NM_001164508.2(NEB):c.13480C>T (p.Leu4494=)
|
rs1462287804
|
|
NM_001164508.2(NEB):c.13482G>A (p.Leu4494=)
|
rs2153903655
|
|
NM_001164508.2(NEB):c.13482G>C (p.Leu4494=)
|
|
|
NM_001164508.2(NEB):c.13482G>T (p.Leu4494=)
|
|
|
NM_001164508.2(NEB):c.13485C>T (p.Tyr4495=)
|
|
|
NM_001164508.2(NEB):c.13491T>G (p.Thr4497=)
|
rs2153903644
|
|
NM_001164508.2(NEB):c.13494T>C (p.Ala4498=)
|
rs2153903631
|
|
NM_001164508.2(NEB):c.13497T>C (p.Tyr4499=)
|
rs2153903611
|
|
NM_001164508.2(NEB):c.13500G>A (p.Glu4500=)
|
|
|
NM_001164508.2(NEB):c.13503A>G (p.Lys4501=)
|
rs2153903600
|
|
NM_001164508.2(NEB):c.13504C>T (p.Gln4502Ter)
|
rs2153903589
|
|
NM_001164508.2(NEB):c.13507_13510del (p.Lys4503fs)
|
|
|
NM_001164508.2(NEB):c.13509A>G (p.Lys4503=)
|
|
|
NM_001164508.2(NEB):c.13509del (p.Gly4504fs)
|
rs2153903564
|
|
NM_001164508.2(NEB):c.13512C>A (p.Gly4504=)
|
|
|
NM_001164508.2(NEB):c.13515T>C (p.His4505=)
|
rs2153903552
|
|
NM_001164508.2(NEB):c.13518C>T (p.Tyr4506=)
|
rs2153903542
|
|
NM_001164508.2(NEB):c.13520T>C (p.Ile4507Thr)
|
rs1553862732
|
|
NM_001164508.2(NEB):c.13524C>T (p.Gly4508=)
|
|
|
NM_001164508.2(NEB):c.13525del (p.Cys4509fs)
|
rs2097453337
|
|
NM_001164508.2(NEB):c.13530C>T (p.Arg4510=)
|
rs2153903504
|
|
NM_001164508.2(NEB):c.13533C>T (p.Ser4511=)
|
rs1168966918
|
|
NM_001164508.2(NEB):c.13536C>T (p.Ala4512=)
|
rs2153903470
|
|
NM_001164508.2(NEB):c.13537A>T (p.Lys4513Ter)
|
rs2097452910
|
|
NM_001164508.2(NEB):c.13545C>T (p.Asp4515=)
|
rs2153903432
|
|
NM_001164508.2(NEB):c.13548T>A (p.Pro4516=)
|
|
|
NM_001164508.2(NEB):c.13548T>C (p.Pro4516=)
|
rs1578803539
|
|
NM_001164508.2(NEB):c.13548T>G (p.Pro4516=)
|
rs1578803539
|
|
NM_001164508.2(NEB):c.13551A>G (p.Lys4517=)
|
rs1578803460
|
|
NM_001164508.2(NEB):c.13551dup (p.Leu4518fs)
|
|
|
NM_001164508.2(NEB):c.13552C>T (p.Leu4518=)
|
rs2153903401
|
|
NM_001164508.2(NEB):c.13554G>A (p.Leu4518=)
|
|
|
NM_001164508.2(NEB):c.13554G>T (p.Leu4518=)
|
|
|
NM_001164508.2(NEB):c.13557T>C (p.Val4519=)
|
rs2153903393
|
|
NM_001164508.2(NEB):c.13560G>A (p.Trp4520Ter)
|
|
|
NM_001164508.2(NEB):c.13563A>G (p.Ala4521=)
|
rs2153903385
|
|
NM_001164508.2(NEB):c.13566A>C (p.Ala4522=)
|
rs2153903373
|
|
NM_001164508.2(NEB):c.13566A>G (p.Ala4522=)
|
rs2153903373
|
|
NM_001164508.2(NEB):c.13569T>C (p.Asn4523=)
|
rs2097452334
|
|
NM_001164508.2(NEB):c.1356A>G (p.Gln452=)
|
rs2149359064
|
|
NM_001164508.2(NEB):c.13572G>A (p.Val4524=)
|
|
|
NM_001164508.2(NEB):c.13572G>T (p.Val4524=)
|
rs2153903355
|
|
NM_001164508.2(NEB):c.13573T>C (p.Leu4525=)
|
rs1057523201
|
|
NM_001164508.2(NEB):c.13575G>A (p.Leu4525=)
|
rs2153903335
|
|
NM_001164508.2(NEB):c.13587T>C (p.Asn4529=)
|
|
|
NM_001164508.2(NEB):c.13590C>T (p.Asp4530=)
|
rs2153903319
|
|
NM_001164508.2(NEB):c.13591A>C (p.Arg4531=)
|
rs1578803178
|
|
NM_001164508.2(NEB):c.13593G>C (p.Arg4531Ser)
|
rs2097451987
|
|
NM_001164508.2(NEB):c.13593del (p.Arg4531fs)
|
rs2153903290
|
|
NM_001164508.2(NEB):c.13594C>T (p.Leu4532=)
|
rs2153903271
|
|
NM_001164508.2(NEB):c.13596G>A (p.Leu4532=)
|
rs886038436
|
|
NM_001164508.2(NEB):c.13599C>G (p.Tyr4533Ter)
|
rs2153903239
|
|
NM_001164508.2(NEB):c.13599C>T (p.Tyr4533=)
|
|
|
NM_001164508.2(NEB):c.1359C>T (p.Asn453=)
|
rs2149359026
|
|
NM_001164508.2(NEB):c.13605G>A (p.Lys4535=)
|
|
|
NM_001164508.2(NEB):c.13611C>T (p.Tyr4537=)
|
|
|
NM_001164508.2(NEB):c.13614C>T (p.Asn4538=)
|
rs1250752053
|
|
NM_001164508.2(NEB):c.13615G>A (p.Asp4539Asn)
|
rs1578802735
|
|
NM_001164508.2(NEB):c.13617C>T (p.Asp4539=)
|
rs2153903185
|
|
NM_001164508.2(NEB):c.13620C>T (p.His4540=)
|
|
|
NM_001164508.2(NEB):c.13623A>G (p.Lys4541=)
|
|
|
NM_001164508.2(NEB):c.13626C>A (p.Ala4542=)
|
rs201225445
|
|
NM_001164508.2(NEB):c.13626C>G (p.Ala4542=)
|
rs201225445
|
|
NM_001164508.2(NEB):c.13626C>T (p.Ala4542=)
|
rs201225445
|
|
NM_001164508.2(NEB):c.13629G>A (p.Lys4543=)
|
rs2097451170
|
|
NM_001164508.2(NEB):c.13631_13634dup (p.Ile4546fs)
|
rs2153903111
|
|
NM_001164508.2(NEB):c.13635C>T (p.Ser4545=)
|
|
|
NM_001164508.2(NEB):c.13638C>A (p.Ile4546=)
|
rs1225197770
|
|
NM_001164508.2(NEB):c.13644G>T (p.Val4548=)
|
rs2153903076
|
|
NM_001164508.2(NEB):c.1365+14C>G
|
|
|
NM_001164508.2(NEB):c.1365+14C>T
|
|
|
NM_001164508.2(NEB):c.1365+15A>G
|
|
|
NM_001164508.2(NEB):c.1365+16A>G
|
|
|
NM_001164508.2(NEB):c.1365+17T>C
|
|
|
NM_001164508.2(NEB):c.1365+1G>T
|
|
|
NM_001164508.2(NEB):c.1365+20_1365+23del
|
|
|
NM_001164508.2(NEB):c.13651G>A (p.Val4551Met)
|
rs1553862399
|
|
NM_001164508.2(NEB):c.13651G>C (p.Val4551Leu)
|
rs1553862399
|
|
NM_001164508.2(NEB):c.13653G>A (p.Val4551=)
|
rs1553862349
|
|
NM_001164508.2(NEB):c.13653G>C (p.Val4551=)
|
|
|
NM_001164508.2(NEB):c.13653G>T (p.Val4551=)
|
rs1553862349
|
|
NM_001164508.2(NEB):c.13656C>A (p.Ser4552=)
|
|
|
NM_001164508.2(NEB):c.13656C>T (p.Ser4552=)
|
rs2153903014
|
|
NM_001164508.2(NEB):c.1366-11_1366-9del
|
|
|
NM_001164508.2(NEB):c.1366-11del
|
rs2149354473
|
|
NM_001164508.2(NEB):c.1366-12T>G
|
rs1057523429
|
|
NM_001164508.2(NEB):c.1366-13C>T
|
|
|
NM_001164508.2(NEB):c.1366-13del
|
|
|
NM_001164508.2(NEB):c.1366-16T>C
|
|
|
NM_001164508.2(NEB):c.1366-17A>G
|
|
|
NM_001164508.2(NEB):c.1366-2A>G
|
rs1553607505
|
|
NM_001164508.2(NEB):c.1366-3T>C
|
|
|
NM_001164508.2(NEB):c.1366-4A>G
|
rs886038438
|
|
NM_001164508.2(NEB):c.1366-7C>T
|
rs2149354112
|
|
NM_001164508.2(NEB):c.1366-7_1366-5del
|
rs1317027054
|
|
NM_001164508.2(NEB):c.1366-8C>T
|
rs1054288744
|
|
NM_001164508.2(NEB):c.1366-9_1366-8del
|
rs773970341
|
|
NM_001164508.2(NEB):c.13662C>T (p.Ser4554=)
|
rs1553862322
|
|
NM_001164508.2(NEB):c.13670A>G (p.Lys4557Arg)
|
|
|
NM_001164508.2(NEB):c.13677T>C (p.Gly4559=)
|
rs2153902979
|
|
NM_001164508.2(NEB):c.13677T>G (p.Gly4559=)
|
|
|
NM_001164508.2(NEB):c.13680G>A (p.Gln4560=)
|
rs886038439
|
|
NM_001164508.2(NEB):c.13680G>C (p.Gln4560His)
|
rs886038439
|
|
NM_001164508.2(NEB):c.13686G>A (p.Leu4562=)
|
|
|
NM_001164508.2(NEB):c.13689A>C (p.Ala4563=)
|
rs2153902957
|
|
NM_001164508.2(NEB):c.13695T>C (p.Asp4565=)
|
rs2153902950
|
|
NM_001164508.2(NEB):c.13698G>A (p.Val4566=)
|
rs2153902941
|
|
NM_001164508.2(NEB):c.13701C>T (p.Asp4567=)
|
|
|
NM_001164508.2(NEB):c.13704T>A (p.Tyr4568Ter)
|
rs1553862274
|
|
NM_001164508.2(NEB):c.13704T>G (p.Tyr4568Ter)
|
|
|
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His)
|
rs1216367965
|
|
NM_001164508.2(NEB):c.13707C>T (p.Arg4569=)
|
rs2153902912
|
|
NM_001164508.2(NEB):c.1370_1386delinsTCTA (p.Asn457fs)
|
|
|
NM_001164508.2(NEB):c.13710T>C (p.His4570=)
|
rs2153902905
|
|
NM_001164508.2(NEB):c.13713C>A (p.Tyr4571Ter)
|
|
|
NM_001164508.2(NEB):c.13713C>T (p.Tyr4571=)
|
rs2153902894
|
|
NM_001164508.2(NEB):c.13716G>A (p.Leu4572=)
|
|
|
NM_001164508.2(NEB):c.13716G>T (p.Leu4572=)
|
|
|
NM_001164508.2(NEB):c.13717C>T (p.His4573Tyr)
|
rs1553862206
|
|
NM_001164508.2(NEB):c.13719C>T (p.His4573=)
|
rs2153902868
|
|
NM_001164508.2(NEB):c.13719_13721delinsTCG (p.His4574Arg)
|
rs2153902861
|
|
NM_001164508.2(NEB):c.13721A>G (p.His4574Arg)
|
rs876657542
|
|
NM_001164508.2(NEB):c.13722C>T (p.His4574=)
|
rs2153902846
|
|
NM_001164508.2(NEB):c.13728T>A (p.Ser4576=)
|
rs2153902833
|
|
NM_001164508.2(NEB):c.13728T>G (p.Ser4576=)
|
rs2153902833
|
|
NM_001164508.2(NEB):c.1372T>C (p.Tyr458His)
|
rs2149353691
|
|
NM_001164508.2(NEB):c.13731C>T (p.Cys4577=)
|
rs2153902820
|
|
NM_001164508.2(NEB):c.13734del (p.Asp4580fs)
|
|
|
NM_001164508.2(NEB):c.13737C>G (p.Pro4579=)
|
|
|
NM_001164508.2(NEB):c.13737C>T (p.Pro4579=)
|
rs1578801445
|
|
NM_001164508.2(NEB):c.13743G>A (p.Gln4581=)
|
|
|
NM_001164508.2(NEB):c.13746T>C (p.Asn4582=)
|
rs2153902789
|
|
NM_001164508.2(NEB):c.13749T>C (p.Asp4583=)
|
rs2153902762
|
|
NM_001164508.2(NEB):c.1374C>G (p.Tyr458Ter)
|
|
|
NM_001164508.2(NEB):c.13751_13752dup (p.Ile4585Ter)
|
rs2153902749
|
|
NM_001164508.2(NEB):c.13753A>G (p.Ile4585Val)
|
rs886038440
|
|
NM_001164508.2(NEB):c.13754T>C (p.Ile4585Thr)
|
rs1553862132
|
|
NM_001164508.2(NEB):c.13755C>A (p.Ile4585=)
|
|
|
NM_001164508.2(NEB):c.13755C>T (p.Ile4585=)
|
rs2153902709
|
|
NM_001164508.2(NEB):c.13756C>T (p.Gln4586Ter)
|
rs1560283028
|
|
NM_001164508.2(NEB):c.13761C>T (p.Ala4587=)
|
rs2153902680
|
|
NM_001164508.2(NEB):c.13761del (p.Arg4588fs)
|
|
|
NM_001164508.2(NEB):c.13762A>C (p.Arg4588=)
|
|
|
NM_001164508.2(NEB):c.13773C>A (p.Tyr4591Ter)
|
rs1553862114
|
|
NM_001164508.2(NEB):c.13773C>T (p.Tyr4591=)
|
rs1553862114
|
|
NM_001164508.2(NEB):c.13776C>T (p.Asp4592=)
|
rs2153902632
|
|
NM_001164508.2(NEB):c.13777del (p.Leu4593fs)
|
|
|
NM_001164508.2(NEB):c.13780C>T (p.Gln4594Ter)
|
rs2097449114
|
|
NM_001164508.2(NEB):c.13782G>A (p.Gln4594=)
|
rs2153902580
|
|
NM_001164508.2(NEB):c.13785C>T (p.Ser4595=)
|
rs1578800572
|
|
NM_001164508.2(NEB):c.13788+10T>C
|
rs2153902503
|
|
NM_001164508.2(NEB):c.13788+11C>G
|
|
|
NM_001164508.2(NEB):c.13788+11C>T
|
|
|
NM_001164508.2(NEB):c.13788+12C>A
|
|
|
NM_001164508.2(NEB):c.13788+13C>T
|
|
|
NM_001164508.2(NEB):c.13788+14C>T
|
|
|
NM_001164508.2(NEB):c.13788+15C>T
|
|
|
NM_001164508.2(NEB):c.13788+15del
|
|
|
NM_001164508.2(NEB):c.13788+17G>A
|
|
|
NM_001164508.2(NEB):c.13788+18G>A
|
rs1057523329
|
|
NM_001164508.2(NEB):c.13788+1G>A
|
rs1553862061
|
|
NM_001164508.2(NEB):c.13788+1G>C
|
rs1553862061
|
|
NM_001164508.2(NEB):c.13788+2dup
|
rs2153902530
|
|
NM_001164508.2(NEB):c.13788+9_13788+12delinsATCG
|
rs2153902431
|
|
NM_001164508.2(NEB):c.13788+9_13788+12delinsCG
|
rs2153902466
|
|
NM_001164508.2(NEB):c.1387G>A (p.Glu463Lys)
|
|
|
NM_001164508.2(NEB):c.1394A>G (p.Asp465Gly)
|
|
|
NM_001164508.2(NEB):c.1396A>G (p.Arg466Gly)
|
|
|
NM_001164508.2(NEB):c.139A>G (p.Thr47Ala)
|
|
|
NM_001164508.2(NEB):c.1404A>G (p.Lys468=)
|
rs2099602836
|
|
NM_001164508.2(NEB):c.1405G>T (p.Gly469Cys)
|
|
|
NM_001164508.2(NEB):c.1406G>C (p.Gly469Ala)
|
|
|
NM_001164508.2(NEB):c.1409T>G (p.Phe470Cys)
|
|
|
NM_001164508.2(NEB):c.1411T>C (p.Phe471Leu)
|
|
|
NM_001164508.2(NEB):c.1415_1416insACATTCAAAGT (p.Gln473fs)
|
|
|
NM_001164508.2(NEB):c.1416T>G (p.Pro472=)
|
rs2149352479
|
|
NM_001164508.2(NEB):c.1417C>T (p.Gln473Ter)
|
|
|
NM_001164508.2(NEB):c.1419G>A (p.Gln473=)
|
|
|
NM_001164508.2(NEB):c.1419G>T (p.Gln473His)
|
rs761722604
|
|
NM_001164508.2(NEB):c.1422C>A (p.Thr474=)
|
|
|
NM_001164508.2(NEB):c.1422C>T (p.Thr474=)
|
rs376008654
|
|
NM_001164508.2(NEB):c.1428T>C (p.Thr476=)
|
rs1265121813
|
|
NM_001164508.2(NEB):c.1434A>G (p.Glu478=)
|
rs2149351968
|
|
NM_001164508.2(NEB):c.1437T>C (p.Tyr479=)
|
rs2149351922
|
|
NM_001164508.2(NEB):c.1444A>G (p.Ile482Val)
|
rs945055152
|
|
NM_001164508.2(NEB):c.1453C>T (p.Leu485=)
|
|
|
NM_001164508.2(NEB):c.1455A>G (p.Leu485=)
|
|
|
NM_001164508.2(NEB):c.1459C>T (p.Gln487Ter)
|
|
|
NM_001164508.2(NEB):c.1460A>T (p.Gln487Leu)
|
|
|
NM_001164508.2(NEB):c.1461G>T (p.Gln487His)
|
|
|
NM_001164508.2(NEB):c.1462T>A (p.Cys488Ser)
|
rs749228422
|
|
NM_001164508.2(NEB):c.1470+11A>G
|
|
|
NM_001164508.2(NEB):c.1470+15T>C
|
|
|
NM_001164508.2(NEB):c.1470+17A>G
|
|
|
NM_001164508.2(NEB):c.1470+17A>T
|
|
|
NM_001164508.2(NEB):c.1470+1G>C
|
rs1220787593
|
|
NM_001164508.2(NEB):c.1470+7C>A
|
|
|
NM_001164508.2(NEB):c.1470+8T>G
|
|
|
NM_001164508.2(NEB):c.1470+9G>A
|
rs1387821584
|
|
NM_001164508.2(NEB):c.1471-10T>C
|
|
|
NM_001164508.2(NEB):c.1471-11del
|
|
|
NM_001164508.2(NEB):c.1471-15T>C
|
|
|
NM_001164508.2(NEB):c.1471-16C>A
|
|
|
NM_001164508.2(NEB):c.1471-16C>G
|
|
|
NM_001164508.2(NEB):c.1471-17C>T
|
|
|
NM_001164508.2(NEB):c.1471-18G>T
|
|
|
NM_001164508.2(NEB):c.1471-1G>A
|
rs1553605995
|
|
NM_001164508.2(NEB):c.1471-3C>T
|
|
|
NM_001164508.2(NEB):c.1471-4A>G
|
rs2149336377
|
|
NM_001164508.2(NEB):c.1471-6C>T
|
rs1176788819
|
|
NM_001164508.2(NEB):c.1473C>T (p.His491=)
|
|
|
NM_001164508.2(NEB):c.1476C>T (p.Thr492=)
|
rs761741250
|
|
NM_001164508.2(NEB):c.14827-14CT[2]
|
rs536426422
|
|
NM_001164508.2(NEB):c.1482A>C (p.Lys494Asn)
|
|
|
NM_001164508.2(NEB):c.1485C>T (p.Val495=)
|
rs2149335902
|
|
NM_001164508.2(NEB):c.1506C>T (p.Phe502=)
|
|
|
NM_001164508.2(NEB):c.1509C>T (p.Thr503=)
|
|
|
NM_001164508.2(NEB):c.1525C>T (p.Pro509Ser)
|
|
|
NM_001164508.2(NEB):c.1526del (p.Pro509fs)
|
rs1181351466
|
|
NM_001164508.2(NEB):c.1529_1533del (p.Val510fs)
|
rs2099599008
|
|
NM_001164508.2(NEB):c.1531C>G (p.Leu511Val)
|
|
|
NM_001164508.2(NEB):c.1531C>T (p.Leu511=)
|
|
|
NM_001164508.2(NEB):c.1535T>A (p.Leu512Gln)
|
rs2099599001
|
|
NM_001164508.2(NEB):c.1536A>C (p.Leu512=)
|
|
|
NM_001164508.2(NEB):c.1536A>G (p.Leu512=)
|
|
|
NM_001164508.2(NEB):c.1537C>T (p.Gln513Ter)
|
rs1171781332
|
|
NM_001164508.2(NEB):c.1538A>G (p.Gln513Arg)
|
|
|
NM_001164508.2(NEB):c.153T>A (p.Ala51=)
|
rs940439703
|
|
NM_001164508.2(NEB):c.153T>C (p.Ala51=)
|
|
|
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1])
|
rs757726895
|
|
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])
|
rs757726895
|
|
NM_001164508.2(NEB):c.1541C>G (p.Ala514Gly)
|
|
|
NM_001164508.2(NEB):c.1545A>C (p.Gln515His)
|
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1])
|
rs377452683
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3])
|
rs377452683
|
|
NM_001164508.2(NEB):c.1555A>T (p.Lys519Ter)
|
|
|
NM_001164508.2(NEB):c.1557A>G (p.Lys519=)
|
|
|
NM_001164508.2(NEB):c.1558C>T (p.Gln520Ter)
|
rs757999917
|
|
NM_001164508.2(NEB):c.155T>G (p.Leu52Arg)
|
|
|
NM_001164508.2(NEB):c.1566T>C (p.Ser522=)
|
rs2149333531
|
|
NM_001164508.2(NEB):c.1568dup (p.Asp523fs)
|
|
|
NM_001164508.2(NEB):c.1569+11C>G
|
|
|
NM_001164508.2(NEB):c.1569+12T>C
|
|
|
NM_001164508.2(NEB):c.1569+13A>G
|
|
|
NM_001164508.2(NEB):c.1569+15C>G
|
|
|
NM_001164508.2(NEB):c.1569+15C>T
|
|
|
NM_001164508.2(NEB):c.1569+16T>A
|
|
|
NM_001164508.2(NEB):c.1569+1G>A
|
rs1553605553
|
|
NM_001164508.2(NEB):c.1569+1G>C
|
|
|
NM_001164508.2(NEB):c.1569+3A>T
|
rs1576671314
|
|
NM_001164508.2(NEB):c.1569+8C>A
|
|
|
NM_001164508.2(NEB):c.1569+8C>T
|
rs2099598770
|
|
NM_001164508.2(NEB):c.1570-11C>G
|
|
|
NM_001164508.2(NEB):c.1570-12T>C
|
|
|
NM_001164508.2(NEB):c.1570-13C>T
|
|
|
NM_001164508.2(NEB):c.1570-15C>T
|
|
|
NM_001164508.2(NEB):c.1570-1G>C
|
rs1390328608
|
|
NM_001164508.2(NEB):c.1570-2A>G
|
rs1553603958
|
|
NM_001164508.2(NEB):c.1570-2_1574del
|
rs1553603933
|
|
NM_001164508.2(NEB):c.1570-4A>G
|
rs752643338
|
|
NM_001164508.2(NEB):c.1570-5C>T
|
|
|
NM_001164508.2(NEB):c.1570-7G>C
|
rs1576637428
|
|
NM_001164508.2(NEB):c.1576T>C (p.Tyr526His)
|
|
|
NM_001164508.2(NEB):c.1580A>G (p.Lys527Arg)
|
rs773132178
|
|
NM_001164508.2(NEB):c.1585A>G (p.Lys529Glu)
|
|
|
NM_001164508.2(NEB):c.1587A>G (p.Lys529=)
|
|
|
NM_001164508.2(NEB):c.1590T>C (p.His530=)
|
|
|
NM_001164508.2(NEB):c.1593A>G (p.Glu531=)
|
rs2149300514
|
|
NM_001164508.2(NEB):c.1596T>C (p.Ser532=)
|
|
|
NM_001164508.2(NEB):c.1602G>A (p.Lys534=)
|
|
|
NM_001164508.2(NEB):c.1605del (p.Phe535fs)
|
|
|
NM_001164508.2(NEB):c.1610G>A (p.Cys537Tyr)
|
rs935982815
|
|
NM_001164508.2(NEB):c.1618C>G (p.Pro540Ala)
|
rs1271816542
|
|
NM_001164508.2(NEB):c.1620C>G (p.Pro540=)
|
rs776014034
|
|
NM_001164508.2(NEB):c.1622C>G (p.Pro541Arg)
|
|
|
NM_001164508.2(NEB):c.1623del (p.Asp542fs)
|
rs772366030
|
|
NM_001164508.2(NEB):c.1624G>T (p.Asp542Tyr)
|
|
|
NM_001164508.2(NEB):c.1626T>C (p.Asp542=)
|
|
|
NM_001164508.2(NEB):c.1629T>C (p.Thr543=)
|
|
|
NM_001164508.2(NEB):c.1632T>C (p.Pro544=)
|
|
|
NM_001164508.2(NEB):c.1638dup (p.Ile547fs)
|
|
|
NM_001164508.2(NEB):c.1641C>T (p.Ile547=)
|
rs778381002
|
|
NM_001164508.2(NEB):c.1644G>A (p.Gln548=)
|
rs2149298942
|
|
NM_001164508.2(NEB):c.1649_1650del (p.Lys550fs)
|
|
|
NM_001164508.2(NEB):c.1650A>G (p.Lys550=)
|
|
|
NM_001164508.2(NEB):c.1654A>G (p.Asn552Asp)
|
rs2099590400
|
|
NM_001164508.2(NEB):c.1659_1662dup (p.Asn555delinsLeuTer)
|
|
|
NM_001164508.2(NEB):c.1661A>G (p.Tyr554Cys)
|
|
|
NM_001164508.2(NEB):c.1665C>T (p.Asn555=)
|
|
|
NM_001164508.2(NEB):c.1668G>A (p.Leu556=)
|
rs2149298109
|
|
NM_001164508.2(NEB):c.16704+1G>A
|
rs1227806763
|
|
NM_001164508.2(NEB):c.16705-14G>A
|
|
|
NM_001164508.2(NEB):c.16705-14_16705-13del
|
|
|
NM_001164508.2(NEB):c.16705-16G>A
|
|
|
NM_001164508.2(NEB):c.16705-18C>A
|
|
|
NM_001164508.2(NEB):c.16705-18C>G
|
|
|
NM_001164508.2(NEB):c.16705-24_16705-19del
|
|
|
NM_001164508.2(NEB):c.16705-5T>G
|
|
|
NM_001164508.2(NEB):c.16707C>T (p.Ala5569=)
|
rs2096826749
|
|
NM_001164508.2(NEB):c.16707_16710dup (p.Tyr5571fs)
|
rs2153808894
|
|
NM_001164508.2(NEB):c.16708C>T (p.Leu5570Phe)
|
|
|
NM_001164508.2(NEB):c.16719T>C (p.Ala5573=)
|
rs2153808873
|
|
NM_001164508.2(NEB):c.16722C>T (p.Asp5574=)
|
rs1220652604
|
|
NM_001164508.2(NEB):c.16725G>T (p.Leu5575Phe)
|
rs2153808846
|
|
NM_001164508.2(NEB):c.1672_1674+2del
|
rs1057516739
|
|
NM_001164508.2(NEB):c.16736G>A (p.Arg5579His)
|
|
|
NM_001164508.2(NEB):c.16737T>C (p.Arg5579=)
|
|
|
NM_001164508.2(NEB):c.1674+13T>A
|
|
|
NM_001164508.2(NEB):c.1674+13T>C
|
|
|
NM_001164508.2(NEB):c.1674+14G>A
|
|
|
NM_001164508.2(NEB):c.1674+15C>T
|
|
|
NM_001164508.2(NEB):c.1674+16_1674+18del
|
|
|
NM_001164508.2(NEB):c.1674+1G>A
|
rs750585238
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
NM_001164508.2(NEB):c.1674+2T>G
|
|
|
NM_001164508.2(NEB):c.1674+3A>C
|
rs2099590253
|
|
NM_001164508.2(NEB):c.1674+9C>A
|
rs762129201
|
|
NM_001164508.2(NEB):c.1674+9C>T
|
rs762129201
|
|
NM_001164508.2(NEB):c.16746C>G (p.Gly5582=)
|
rs1437705900
|
|
NM_001164508.2(NEB):c.1674T>C (p.Asp558=)
|
rs376597690
|
|
NM_001164508.2(NEB):c.1675-11T>G
|
|
|
NM_001164508.2(NEB):c.1675-14A>T
|
|
|
NM_001164508.2(NEB):c.1675-15A>G
|
|
|
NM_001164508.2(NEB):c.1675-2A>G
|
|
|
NM_001164508.2(NEB):c.1675-7del
|
rs749876066
|
|
NM_001164508.2(NEB):c.1675-8_1675-7del
|
rs749876066
|
|
NM_001164508.2(NEB):c.1675-9T>C
|
rs75118047
|
|
NM_001164508.2(NEB):c.16761G>A (p.Gly5587=)
|
rs2153808696
|
|
NM_001164508.2(NEB):c.16764T>A (p.Ser5588=)
|
rs2153808672
|
|
NM_001164508.2(NEB):c.16765C>T (p.Pro5589Ser)
|
rs1490534583
|
|
NM_001164508.2(NEB):c.1676del (p.Asn559fs)
|
rs1576600442
|
|
NM_001164508.2(NEB):c.16773G>A (p.Val5591=)
|
rs2153808622
|
|
NM_001164508.2(NEB):c.16774T>C (p.Leu5592=)
|
rs1427467881
|
|
NM_001164508.2(NEB):c.16776G>A (p.Leu5592=)
|
|
|
NM_001164508.2(NEB):c.16779del (p.Val5594fs)
|
|
|
NM_001164508.2(NEB):c.16780G>A (p.Val5594Ile)
|
|
|
NM_001164508.2(NEB):c.16782C>A (p.Val5594=)
|
rs200335438
|
|
NM_001164508.2(NEB):c.16782C>T (p.Val5594=)
|
|
|
NM_001164508.2(NEB):c.16789G>A (p.Ala5597Thr)
|
rs749713442
|
|
NM_001164508.2(NEB):c.16789G>T (p.Ala5597Ser)
|
rs749713442
|
|
NM_001164508.2(NEB):c.16792C>A (p.Gln5598Lys)
|
|
|
NM_001164508.2(NEB):c.16800C>T (p.Ile5600=)
|
|
|
NM_001164508.2(NEB):c.16803T>C (p.Phe5601=)
|
rs2096824509
|
|
NM_001164508.2(NEB):c.16803_16804del (p.Phe5601fs)
|
rs2153808479
|
|
NM_001164508.2(NEB):c.16806T>C (p.Cys5602=)
|
rs2153808470
|
|
NM_001164508.2(NEB):c.16819C>T (p.Arg5607Trp)
|
|
|
NM_001164508.2(NEB):c.16820G>A (p.Arg5607Gln)
|
|
|
NM_001164508.2(NEB):c.16824G>A (p.Thr5608=)
|
|
|
NM_001164508.2(NEB):c.16826C>G (p.Pro5609Arg)
|
|
|
NM_001164508.2(NEB):c.16830G>C (p.Val5610=)
|
rs2153808322
|
|
NM_001164508.2(NEB):c.16837C>G (p.Leu5613Val)
|
|
|
NM_001164508.2(NEB):c.1684A>G (p.Lys562Glu)
|
|
|
NM_001164508.2(NEB):c.16856T>C (p.Val5619Ala)
|
|
|
NM_001164508.2(NEB):c.16862C>T (p.Thr5621Ile)
|
|
|
NM_001164508.2(NEB):c.16881T>C (p.Ala5627=)
|
rs2153808196
|
|
NM_001164508.2(NEB):c.16893T>G (p.Ala5631=)
|
|
|
NM_001164508.2(NEB):c.168A>C (p.Ala56=)
|
|
|
NM_001164508.2(NEB):c.168A>G (p.Ala56=)
|
rs200297299
|
|
NM_001164508.2(NEB):c.16901T>C (p.Ile5634Thr)
|
|
|
NM_001164508.2(NEB):c.16908+15dup
|
|
|
NM_001164508.2(NEB):c.16908+16del
|
|
|
NM_001164508.2(NEB):c.16908+17C>G
|
|
|
NM_001164508.2(NEB):c.16908+3_16908+6del
|
|
|
NM_001164508.2(NEB):c.16909-16T>C
|
|
|
NM_001164508.2(NEB):c.16909-1G>A
|
rs2153806528
|
|
NM_001164508.2(NEB):c.16909-6C>A
|
|
|
NM_001164508.2(NEB):c.16909-6C>T
|
rs2153806550
|
|
NM_001164508.2(NEB):c.16911A>T (p.Pro5637=)
|
|
|
NM_001164508.2(NEB):c.16917C>T (p.Tyr5639=)
|
|
|
NM_001164508.2(NEB):c.16920A>G (p.Arg5640=)
|
rs2153806479
|
|
NM_001164508.2(NEB):c.16923G>A (p.Glu5641=)
|
rs764012894
|
|
NM_001164508.2(NEB):c.16926T>C (p.Val5642=)
|
rs2153806452
|
|
NM_001164508.2(NEB):c.16932C>A (p.Asp5644Glu)
|
|
|
NM_001164508.2(NEB):c.16934A>G (p.Lys5645Arg)
|
rs2096805812
|
|
NM_001164508.2(NEB):c.16949T>C (p.Ile5650Thr)
|
rs202009284
|
|
NM_001164508.2(NEB):c.1694G>A (p.Trp565Ter)
|
|
|
NM_001164508.2(NEB):c.16954A>T (p.Ile5652Leu)
|
rs767425744
|
|
NM_001164508.2(NEB):c.16957A>T (p.Met5653Leu)
|
|
|
NM_001164508.2(NEB):c.16962A>G (p.Pro5654=)
|
|
|
NM_001164508.2(NEB):c.16966A>T (p.Thr5656Ser)
|
|
|
NM_001164508.2(NEB):c.16968T>C (p.Thr5656=)
|
|
|
NM_001164508.2(NEB):c.16968T>G (p.Thr5656=)
|
rs2153806332
|
|
NM_001164508.2(NEB):c.1696G>A (p.Glu566Lys)
|
|
|
NM_001164508.2(NEB):c.16991C>A (p.Ala5664Glu)
|
|
|
NM_001164508.2(NEB):c.16994A>C (p.Asn5665Thr)
|
rs2153806253
|
|
NM_001164508.2(NEB):c.1700A>T (p.Lys567Met)
|
rs1360278350
|
|
NM_001164508.2(NEB):c.17010C>T (p.Ser5670=)
|
rs1578230471
|
|
NM_001164508.2(NEB):c.17012A>G (p.Asn5671Ser)
|
rs1390168520
|
|
NM_001164508.2(NEB):c.17013+10A>C
|
rs2153806149
|
|
NM_001164508.2(NEB):c.17013+19T>C
|
|
|
NM_001164508.2(NEB):c.17013+20C>G
|
|
|
NM_001164508.2(NEB):c.17014-11C>A
|
|
|
NM_001164508.2(NEB):c.17014-16T>G
|
|
|
NM_001164508.2(NEB):c.17014-20C>T
|
|
|
NM_001164508.2(NEB):c.17018T>G (p.Leu5673Arg)
|
rs2096589517
|
|
NM_001164508.2(NEB):c.17019_17020del (p.Tyr5674fs)
|
|
|
NM_001164508.2(NEB):c.1701G>A (p.Lys567=)
|
|
|
NM_001164508.2(NEB):c.17023C>G (p.Arg5675Gly)
|
rs547231033
|
|
NM_001164508.2(NEB):c.17031C>T (p.Gly5677=)
|
rs143684640
|
|
NM_001164508.2(NEB):c.17036A>T (p.Asp5679Val)
|
|
|
NM_001164508.2(NEB):c.17038G>A (p.Glu5680Lys)
|
|
|
NM_001164508.2(NEB):c.17046G>A (p.Lys5682=)
|
|
|
NM_001164508.2(NEB):c.17047G>A (p.Ala5683Thr)
|
|
|
NM_001164508.2(NEB):c.17049G>A (p.Ala5683=)
|
rs140688592
|
|
NM_001164508.2(NEB):c.17054G>C (p.Cys5685Ser)
|
|
|
NM_001164508.2(NEB):c.17055T>C (p.Cys5685=)
|
rs2153764831
|
|
NM_001164508.2(NEB):c.17063G>A (p.Arg5688Gln)
|
|
|
NM_001164508.2(NEB):c.17063G>T (p.Arg5688Leu)
|
|
|
NM_001164508.2(NEB):c.17067G>A (p.Leu5689=)
|
|
|
NM_001164508.2(NEB):c.17067G>T (p.Leu5689=)
|
rs772503328
|
|
NM_001164508.2(NEB):c.17069A>G (p.Asp5690Gly)
|
|
|
NM_001164508.2(NEB):c.17078C>T (p.Pro5693Leu)
|
rs2096588016
|
|
NM_001164508.2(NEB):c.17079C>G (p.Pro5693=)
|
rs1348731684
|
|
NM_001164508.2(NEB):c.17079C>T (p.Pro5693=)
|
rs1348731684
|
|
NM_001164508.2(NEB):c.17082C>A (p.Ile5694=)
|
rs770579997
|
|
NM_001164508.2(NEB):c.17091C>A (p.Ala5697=)
|
rs2153764198
|
|
NM_001164508.2(NEB):c.17091_17094dup (p.Ala5699fs)
|
|
|
NM_001164508.2(NEB):c.17101dup (p.Arg5701fs)
|
|
|
NM_001164508.2(NEB):c.17103G>A (p.Arg5701=)
|
rs1414276838
|
|
NM_001164508.2(NEB):c.17106G>A (p.Glu5702=)
|
|
|
NM_001164508.2(NEB):c.17118+11T>A
|
|
|
NM_001164508.2(NEB):c.17118+15T>A
|
|
|
NM_001164508.2(NEB):c.17118+15_17118+16del
|
|
|
NM_001164508.2(NEB):c.17118+16T>C
|
|
|
NM_001164508.2(NEB):c.17118+8G>C
|
|
|
NM_001164508.2(NEB):c.17118C>A (p.Asp5706Glu)
|
rs769476760
|
|
NM_001164508.2(NEB):c.17119-15T>C
|
|
|
NM_001164508.2(NEB):c.17119-21_17119-5del
|
rs2153759284
|
|
NM_001164508.2(NEB):c.17119-4C>G
|
rs1161116603
|
|
NM_001164508.2(NEB):c.17119-6C>T
|
rs2096581571
|
|
NM_001164508.2(NEB):c.17119-7T>C
|
|
|
NM_001164508.2(NEB):c.17119-8A>T
|
rs1171189923
|
|
NM_001164508.2(NEB):c.17119-9C>T
|
rs2153759606
|
|
NM_001164508.2(NEB):c.17135A>G (p.Asp5712Gly)
|
|
|
NM_001164508.2(NEB):c.17139T>C (p.His5713=)
|
rs1287758552
|
|
NM_001164508.2(NEB):c.17154A>G (p.Gly5718=)
|
|
|
NM_001164508.2(NEB):c.17155C>A (p.His5719Asn)
|
|
|
NM_001164508.2(NEB):c.17157C>T (p.His5719=)
|
|
|
NM_001164508.2(NEB):c.17163G>A (p.Val5721=)
|
|
|
NM_001164508.2(NEB):c.17166C>T (p.Gly5722=)
|
|
|
NM_001164508.2(NEB):c.17168C>T (p.Thr5723Ile)
|
|
|
NM_001164508.2(NEB):c.17169C>T (p.Thr5723=)
|
|
|
NM_001164508.2(NEB):c.17173A>C (p.Thr5725Pro)
|
rs2096580140
|
|
NM_001164508.2(NEB):c.17174C>T (p.Thr5725Ile)
|
|
|
NM_001164508.2(NEB):c.17180G>C (p.Arg5727Thr)
|
rs533494950
|
|
NM_001164508.2(NEB):c.17183A>G (p.Asp5728Gly)
|
rs756098317
|
|
NM_001164508.2(NEB):c.17188A>G (p.Asn5730Asp)
|
|
|
NM_001164508.2(NEB):c.17189A>G (p.Asn5730Ser)
|
|
|
NM_001164508.2(NEB):c.17190C>T (p.Asn5730=)
|
|
|
NM_001164508.2(NEB):c.17196_17200del (p.Ile5732fs)
|
rs1578011278
|
|
NM_001164508.2(NEB):c.17198G>A (p.Arg5733His)
|
rs371681892
|
|
NM_001164508.2(NEB):c.17198G>T (p.Arg5733Leu)
|
rs371681892
|
|
NM_001164508.2(NEB):c.17199C>T (p.Arg5733=)
|
rs2153756702
|
|
NM_001164508.2(NEB):c.17223C>T (p.Leu5741=)
|
|
|
NM_001164508.2(NEB):c.17224C>T (p.Gln5742Ter)
|
rs2153755942
|
|
NM_001164508.2(NEB):c.17228A>G (p.Asn5743Ser)
|
rs1022255644
|
|
NM_001164508.2(NEB):c.17233C>A (p.Arg5745=)
|
|
|
NM_001164508.2(NEB):c.17233C>T (p.Arg5745Ter)
|
rs1427371913
|
|
NM_001164508.2(NEB):c.17234G>A (p.Arg5745Gln)
|
rs773556106
|
|
NM_001164508.2(NEB):c.17242del (p.Arg5748fs)
|
|
|
NM_001164508.2(NEB):c.1724T>C (p.Ile575Thr)
|
|
|
NM_001164508.2(NEB):c.17250C>T (p.Asp5750=)
|
|
|
NM_001164508.2(NEB):c.17251T>G (p.Trp5751Gly)
|
rs2096578090
|
|
NM_001164508.2(NEB):c.17256C>T (p.Ala5752=)
|
rs2153754860
|
|
NM_001164508.2(NEB):c.17258A>G (p.Lys5753Arg)
|
rs2153754800
|
|
NM_001164508.2(NEB):c.17265G>A (p.Lys5755=)
|
rs2153754655
|
|
NM_001164508.2(NEB):c.17271G>A (p.Lys5757=)
|
|
|
NM_001164508.2(NEB):c.17276A>G (p.Gln5759Arg)
|
|
|
NM_001164508.2(NEB):c.17277G>C (p.Gln5759His)
|
|
|
NM_001164508.2(NEB):c.17281C>G (p.Pro5761Ala)
|
rs2153753928
|
|
NM_001164508.2(NEB):c.17289C>T (p.Asp5763=)
|
|
|
NM_001164508.2(NEB):c.1728A>G (p.Lys576=)
|
rs2149262618
|
|
NM_001164508.2(NEB):c.17297C>T (p.Ser5766Phe)
|
rs745836611
|
|
NM_001164508.2(NEB):c.17298C>T (p.Ser5766=)
|
|
|
NM_001164508.2(NEB):c.1729G>A (p.Val577Met)
|
rs1419317928
|
|
NM_001164508.2(NEB):c.17302C>T (p.Leu5768=)
|
|
|
NM_001164508.2(NEB):c.17310del (p.Asn5772fs)
|
|
|
NM_001164508.2(NEB):c.17325T>C (p.Ala5775=)
|
rs375534633
|
|
NM_001164508.2(NEB):c.17328G>C (p.Leu5776=)
|
|
|
NM_001164508.2(NEB):c.17328G>T (p.Leu5776=)
|
|
|
NM_001164508.2(NEB):c.1732del (p.Asp578fs)
|
|
|
NM_001164508.2(NEB):c.17333G>A (p.Ser5778Asn)
|
rs2153752911
|
|
NM_001164508.2(NEB):c.17334T>C (p.Ser5778=)
|
rs372247757
|
|
NM_001164508.2(NEB):c.17341G>C (p.Asp5781His)
|
rs897368602
|
|
NM_001164508.2(NEB):c.17341G>T (p.Asp5781Tyr)
|
|
|
NM_001164508.2(NEB):c.17348G>A (p.Arg5783His)
|
|
|
NM_001164508.2(NEB):c.17349C>G (p.Arg5783=)
|
rs2153752810
|
|
NM_001164508.2(NEB):c.17355C>A (p.Tyr5785Ter)
|
|
|
NM_001164508.2(NEB):c.17355C>T (p.Tyr5785=)
|
rs1578007148
|
|
NM_001164508.2(NEB):c.17356C>T (p.Leu5786=)
|
rs1578007071
|
|
NM_001164508.2(NEB):c.17358G>A (p.Leu5786=)
|
|
|
NM_001164508.2(NEB):c.17367G>C (p.Trp5789Cys)
|
|
|
NM_001164508.2(NEB):c.17373C>A (p.Cys5791Ter)
|
rs2153752710
|
|
NM_001164508.2(NEB):c.17373C>T (p.Cys5791=)
|
|
|
NM_001164508.2(NEB):c.17377C>T (p.Pro5793Ser)
|
|
|
NM_001164508.2(NEB):c.17394G>A (p.Val5798=)
|
rs1578005646
|
|
NM_001164508.2(NEB):c.17396T>C (p.Ile5799Thr)
|
rs1262861131
|
|
NM_001164508.2(NEB):c.17400G>A (p.Gln5800=)
|
|
|
NM_001164508.2(NEB):c.17404AAG[1] (p.Lys5803del)
|
rs1553787578
|
|
NM_001164508.2(NEB):c.17408A>C (p.Lys5803Thr)
|
|
|
NM_001164508.2(NEB):c.17415C>A (p.Tyr5805Ter)
|
rs555516831
|
|
NM_001164508.2(NEB):c.1741C>T (p.Pro581Ser)
|
|
|
NM_001164508.2(NEB):c.17421G>A (p.Leu5807=)
|
rs2153752381
|
|
NM_001164508.2(NEB):c.17423_17427del (p.Gln5808fs)
|
|
|
NM_001164508.2(NEB):c.17430+10C>A
|
|
|
NM_001164508.2(NEB):c.17430+12G>A
|
|
|
NM_001164508.2(NEB):c.17430+14A>G
|
|
|
NM_001164508.2(NEB):c.17430+17T>C
|
|
|
NM_001164508.2(NEB):c.17430+19G>A
|
|
|
NM_001164508.2(NEB):c.17430+20G>T
|
|
|
NM_001164508.2(NEB):c.17430+7G>A
|
rs1578003936
|
|
NM_001164508.2(NEB):c.17430+7G>C
|
rs1578003936
|
|
NM_001164508.2(NEB):c.17430+8_17430+9del
|
rs764902371
|
|
NM_001164508.2(NEB):c.17430+9G>A
|
rs780361098
|
|
NM_001164508.2(NEB):c.17430dup (p.Asn5811Ter)
|
|
|
NM_001164508.2(NEB):c.17431-10G>A
|
rs2153749738
|
|
NM_001164508.2(NEB):c.17431-16G>A
|
|
|
NM_001164508.2(NEB):c.17431-19T>C
|
|
|
NM_001164508.2(NEB):c.17431-2A>T
|
|
|
NM_001164508.2(NEB):c.17431-5C>T
|
rs1330992333
|
|
NM_001164508.2(NEB):c.17433T>C (p.Asn5811=)
|
rs371499917
|
|
NM_001164508.2(NEB):c.17439C>T (p.Tyr5813=)
|
rs2096546636
|
|
NM_001164508.2(NEB):c.17452G>C (p.Glu5818Gln)
|
rs1193153766
|
|
NM_001164508.2(NEB):c.17463T>C (p.Arg5821=)
|
rs2153749667
|
|
NM_001164508.2(NEB):c.17463T>G (p.Arg5821=)
|
|
|
NM_001164508.2(NEB):c.17468T>C (p.Ile5823Thr)
|
rs768866431
|
|
NM_001164508.2(NEB):c.17469T>C (p.Ile5823=)
|
rs2153749642
|
|
NM_001164508.2(NEB):c.17472G>A (p.Gly5824=)
|
|
|
NM_001164508.2(NEB):c.17479C>T (p.Pro5827Ser)
|
rs1560050173
|
|
NM_001164508.2(NEB):c.17481A>G (p.Pro5827=)
|
|
|
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met)
|
rs772168965
|
|
NM_001164508.2(NEB):c.17491G>T (p.Val5831Leu)
|
|
|
NM_001164508.2(NEB):c.17493G>A (p.Val5831=)
|
rs1577971928
|
|
NM_001164508.2(NEB):c.17498T>C (p.Val5833Ala)
|
|
|
NM_001164508.2(NEB):c.17499C>G (p.Val5833=)
|
rs2096545394
|
|
NM_001164508.2(NEB):c.174A>G (p.Ala58=)
|
rs762014753
|
|
NM_001164508.2(NEB):c.17501A>G (p.Asn5834Ser)
|
|
|
NM_001164508.2(NEB):c.17503C>G (p.His5835Asp)
|
|
|
NM_001164508.2(NEB):c.17505T>C (p.His5835=)
|
rs2153749540
|
|
NM_001164508.2(NEB):c.17508C>T (p.Ala5836=)
|
|
|
NM_001164508.2(NEB):c.1750G>T (p.Ala584Ser)
|
|
|
NM_001164508.2(NEB):c.17517C>G (p.Ala5839=)
|
rs369433731
|
|
NM_001164508.2(NEB):c.17517C>T (p.Ala5839=)
|
rs369433731
|
|
NM_001164508.2(NEB):c.17523C>T (p.Asp5841=)
|
|
|
NM_001164508.2(NEB):c.17529C>T (p.Phe5843=)
|
rs2153749478
|
|
NM_001164508.2(NEB):c.17535+12T>C
|
|
|
NM_001164508.2(NEB):c.17535+15T>C
|
|
|
NM_001164508.2(NEB):c.17535+18C>G
|
|
|
NM_001164508.2(NEB):c.17535+19del
|
|
|
NM_001164508.2(NEB):c.17535+1G>T
|
rs2153749469
|
|
NM_001164508.2(NEB):c.17535+20T>A
|
|
|
NM_001164508.2(NEB):c.17535+3A>G
|
rs1553784210
|
|
NM_001164508.2(NEB):c.17536-11C>A
|
|
|
NM_001164508.2(NEB):c.17536-13T>C
|
|
|
NM_001164508.2(NEB):c.17536-15C>G
|
|
|
NM_001164508.2(NEB):c.17536-18A>C
|
|
|
NM_001164508.2(NEB):c.17536-18A>G
|
|
|
NM_001164508.2(NEB):c.17536-20A>C
|
|
|
NM_001164508.2(NEB):c.17536-3T>C
|
|
|
NM_001164508.2(NEB):c.17536-4A>T
|
rs2153746785
|
|
NM_001164508.2(NEB):c.17536-5C>T
|
rs2096521366
|
|
NM_001164508.2(NEB):c.17536-5del
|
rs2153746809
|
|
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs)
|
rs886043631
|
|
NM_001164508.2(NEB):c.17543A>G (p.Tyr5848Cys)
|
rs1577949283
|
|
NM_001164508.2(NEB):c.17544T>C (p.Tyr5848=)
|
rs2153746737
|
|
NM_001164508.2(NEB):c.17546G>T (p.Arg5849Leu)
|
|
|
NM_001164508.2(NEB):c.17547C>T (p.Arg5849=)
|
|
|
NM_001164508.2(NEB):c.1754C>T (p.Ala585Val)
|
rs2099581852
|
|
NM_001164508.2(NEB):c.17550A>G (p.Thr5850=)
|
|
|
NM_001164508.2(NEB):c.17565C>G (p.Leu5855=)
|
rs1000805419
|
|
NM_001164508.2(NEB):c.1756A>G (p.Lys586Glu)
|
rs1576598655
|
|
NM_001164508.2(NEB):c.17577T>C (p.Pro5859=)
|
rs369400827
|
|
NM_001164508.2(NEB):c.17586_17587del (p.Asp5862fs)
|
|
|
NM_001164508.2(NEB):c.17592T>C (p.Val5864=)
|
rs758198271
|
|
NM_001164508.2(NEB):c.17595T>C (p.Asp5865=)
|
rs2153746565
|
|
NM_001164508.2(NEB):c.17598T>C (p.Tyr5866=)
|
|
|
NM_001164508.2(NEB):c.175C>G (p.Gln59Glu)
|
rs867732907
|
|
NM_001164508.2(NEB):c.175C>T (p.Gln59Ter)
|
rs867732907
|
|
NM_001164508.2(NEB):c.17601G>C (p.Val5867=)
|
rs58263509
|
|
NM_001164508.2(NEB):c.17608A>C (p.Lys5870Gln)
|
|
|
NM_001164508.2(NEB):c.17613A>G (p.Gln5871=)
|
|
|
NM_001164508.2(NEB):c.17619C>G (p.Gly5873=)
|
|
|
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=)
|
rs767518298
|
|
NM_001164508.2(NEB):c.17620G>A (p.Glu5874Lys)
|
|
|
NM_001164508.2(NEB):c.17625C>T (p.Ile5875=)
|
rs2153746479
|
|
NM_001164508.2(NEB):c.17627T>C (p.Leu5876Pro)
|
rs1181510782
|
|
NM_001164508.2(NEB):c.17628C>G (p.Leu5876=)
|
rs377183242
|
|
NM_001164508.2(NEB):c.17629G>T (p.Asp5877Tyr)
|
|
|
NM_001164508.2(NEB):c.17634+12G>T
|
|
|
NM_001164508.2(NEB):c.17634+18T>A
|
|
|
NM_001164508.2(NEB):c.17634+18T>C
|
|
|
NM_001164508.2(NEB):c.17634+20A>G
|
|
|
NM_001164508.2(NEB):c.17634+8T>G
|
rs2153746370
|
|
NM_001164508.2(NEB):c.17634+9A>G
|
|
|
NM_001164508.2(NEB):c.17635-10_17635-9insG
|
rs2153745514
|
|
NM_001164508.2(NEB):c.17635-11_17635-10insG
|
|
|
NM_001164508.2(NEB):c.17635-16A>G
|
|
|
NM_001164508.2(NEB):c.17635-16A>T
|
|
|
NM_001164508.2(NEB):c.17635-16_17635-14del
|
rs2153745540
|
|
NM_001164508.2(NEB):c.17635-17C>G
|
|
|
NM_001164508.2(NEB):c.17635-17C>T
|
rs750285243
|
|
NM_001164508.2(NEB):c.17635-19C>T
|
rs1241667184
|
|
NM_001164508.2(NEB):c.17635-3del
|
rs3214503
|
|
NM_001164508.2(NEB):c.17635-3dup
|
rs3214503
|
|
NM_001164508.2(NEB):c.17635-4_17635-3dup
|
rs3214503
|
|
NM_001164508.2(NEB):c.17637T>C (p.Ile5879=)
|
rs757071372
|
|
NM_001164508.2(NEB):c.1763A>G (p.Asn588Ser)
|
rs2099581808
|
|
NM_001164508.2(NEB):c.17643C>T (p.Tyr5881=)
|
|
|
NM_001164508.2(NEB):c.17644C>G (p.Arg5882Gly)
|
|
|
NM_001164508.2(NEB):c.17647A>C (p.Lys5883Gln)
|
|
|
NM_001164508.2(NEB):c.17648A>G (p.Lys5883Arg)
|
|
|
NM_001164508.2(NEB):c.17653_17654del (p.Trp5885fs)
|
rs2096504394
|
|
NM_001164508.2(NEB):c.17654G>A (p.Trp5885Ter)
|
rs1340834766
|
|
NM_001164508.2(NEB):c.17658T>C (p.Asn5886=)
|
rs763191027
|
|
NM_001164508.2(NEB):c.17659G>A (p.Ala5887Thr)
|
|
|
NM_001164508.2(NEB):c.17661C>T (p.Ala5887=)
|
rs2153745272
|
|
NM_001164508.2(NEB):c.17664C>T (p.Thr5888=)
|
|
|
NM_001164508.2(NEB):c.17667A>G (p.Lys5889=)
|
|
|
NM_001164508.2(NEB):c.17670A>G (p.Ser5890=)
|
|
|
NM_001164508.2(NEB):c.17672A>C (p.Lys5891Thr)
|
|
|
NM_001164508.2(NEB):c.17676C>T (p.Tyr5892=)
|
|
|
NM_001164508.2(NEB):c.17678C>A (p.Thr5893Asn)
|
|
|
NM_001164508.2(NEB):c.17681T>A (p.Leu5894His)
|
rs201072996
|
|
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro)
|
rs201072996
|
|
NM_001164508.2(NEB):c.17681T>G (p.Leu5894Arg)
|
|
|
NM_001164508.2(NEB):c.17682C>T (p.Leu5894=)
|
|
|
NM_001164508.2(NEB):c.17690C>A (p.Thr5897Asn)
|
|
|
NM_001164508.2(NEB):c.17690C>G (p.Thr5897Ser)
|
|
|
NM_001164508.2(NEB):c.17691C>A (p.Thr5897=)
|
rs933128761
|
|
NM_001164508.2(NEB):c.17691C>T (p.Thr5897=)
|
|
|
NM_001164508.2(NEB):c.17692C>T (p.Pro5898Ser)
|
|
|
NM_001164508.2(NEB):c.17694C>G (p.Pro5898=)
|
|
|
NM_001164508.2(NEB):c.17695C>T (p.Leu5899=)
|
rs2153745150
|
|
NM_001164508.2(NEB):c.17695dup (p.Leu5899fs)
|
rs2096502530
|
|
NM_001164508.2(NEB):c.17697G>C (p.Leu5899=)
|
rs2153745139
|
|
NM_001164508.2(NEB):c.17705C>T (p.Thr5902Ile)
|
|
|
NM_001164508.2(NEB):c.17708C>T (p.Ala5903Val)
|
rs2153745118
|
|
NM_001164508.2(NEB):c.17715G>A (p.Glu5905=)
|
|
|
NM_001164508.2(NEB):c.17724G>A (p.Arg5908=)
|
rs777619904
|
|
NM_001164508.2(NEB):c.17724G>C (p.Arg5908Ser)
|
|
|
NM_001164508.2(NEB):c.17733C>G (p.Asp5911Glu)
|
|
|
NM_001164508.2(NEB):c.17734del (p.Gln5912fs)
|
rs2096501278
|
|
NM_001164508.2(NEB):c.17736+11C>T
|
|
|
NM_001164508.2(NEB):c.17736+18A>T
|
|
|
NM_001164508.2(NEB):c.17736+1G>A
|
|
|
NM_001164508.2(NEB):c.17736+8T>C
|
|
|
NM_001164508.2(NEB):c.17737-14G>A
|
|
|
NM_001164508.2(NEB):c.17737-16T>C
|
|
|
NM_001164508.2(NEB):c.17737-17G>T
|
|
|
NM_001164508.2(NEB):c.17737-20A>G
|
|
|
NM_001164508.2(NEB):c.17737-9G>A
|
|
|
NM_001164508.2(NEB):c.17738A>G (p.Tyr5913Cys)
|
rs2096492304
|
|
NM_001164508.2(NEB):c.17744A>G (p.Tyr5915Cys)
|
|
|
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)
|
|
|
NM_001164508.2(NEB):c.1776C>T (p.Thr592=)
|
rs2149261347
|
|
NM_001164508.2(NEB):c.17777G>A (p.Gly5926Asp)
|
|
|
NM_001164508.2(NEB):c.17778T>C (p.Gly5926=)
|
rs2153744137
|
|
NM_001164508.2(NEB):c.17781del (p.Gly5926_Tyr5927insTer)
|
rs2096491549
|
|
NM_001164508.2(NEB):c.17782A>T (p.Ile5928Phe)
|
|
|
NM_001164508.2(NEB):c.17784T>C (p.Ile5928=)
|
rs969871854
|
|
NM_001164508.2(NEB):c.17789C>T (p.Pro5930Leu)
|
|
|
NM_001164508.2(NEB):c.1778G>A (p.Ser593Asn)
|
rs2099581746
|
|
NM_001164508.2(NEB):c.17796T>C (p.Asp5932=)
|
rs1315946832
|
|
NM_001164508.2(NEB):c.17799T>C (p.Ala5933=)
|
rs2153744048
|
|
NM_001164508.2(NEB):c.177G>C (p.Gln59His)
|
rs200990309
|
|
NM_001164508.2(NEB):c.1780G>A (p.Asp594Asn)
|
|
|
NM_001164508.2(NEB):c.1781A>T (p.Asp594Val)
|
|
|
NM_001164508.2(NEB):c.1782+10G>A
|
rs2149260644
|
|
NM_001164508.2(NEB):c.1782+11C>A
|
|
|
NM_001164508.2(NEB):c.1782+1del
|
rs1390897355
|
|
NM_001164508.2(NEB):c.1782+4_1782+5del
|
rs398124168
|
|
NM_001164508.2(NEB):c.1782+5G>A
|
|
|
NM_001164508.2(NEB):c.17820T>C (p.His5940=)
|
|
|
NM_001164508.2(NEB):c.17823C>T (p.His5941=)
|
rs1308314299
|
|
NM_001164508.2(NEB):c.17828del (p.Asn5943fs)
|
rs1560031341
|
|
NM_001164508.2(NEB):c.1783-12A>T
|
|
|
NM_001164508.2(NEB):c.1783-18T>C
|
|
|
NM_001164508.2(NEB):c.1783-18TG[4]
|
|
|
NM_001164508.2(NEB):c.1783-4G>T
|
rs761557611
|
|
NM_001164508.2(NEB):c.1783-5T>C
|
rs2149258165
|
|
NM_001164508.2(NEB):c.1783-8C>T
|
rs2149258245
|
|
NM_001164508.2(NEB):c.1783-9T>A
|
|
|
NM_001164508.2(NEB):c.17833G>A (p.Val5945Ile)
|
|
|
NM_001164508.2(NEB):c.17840G>A (p.Ser5947Asn)
|
|
|
NM_001164508.2(NEB):c.17842G>A (p.Glu5948Lys)
|
|
|
NM_001164508.2(NEB):c.17844+11C>T
|
|
|
NM_001164508.2(NEB):c.17844+9T>C
|
|
|
NM_001164508.2(NEB):c.17845-11C>A
|
|
|
NM_001164508.2(NEB):c.17845-11C>T
|
|
|
NM_001164508.2(NEB):c.17845-13C>G
|
|
|
NM_001164508.2(NEB):c.17845-19A>G
|
|
|
NM_001164508.2(NEB):c.17845-1G>A
|
rs1371849916
|
|
NM_001164508.2(NEB):c.17845-1G>C
|
rs1371849916
|
|
NM_001164508.2(NEB):c.17845-2A>T
|
rs1177405905
|
|
NM_001164508.2(NEB):c.17845-3C>G
|
rs2153740439
|
|
NM_001164508.2(NEB):c.17845-7T>C
|
rs2153740522
|
|
NM_001164508.2(NEB):c.17845-9T>C
|
rs2096455235
|
|
NM_001164508.2(NEB):c.17847G>A (p.Leu5949=)
|
|
|
NM_001164508.2(NEB):c.17848A>G (p.Lys5950Glu)
|
|
|
NM_001164508.2(NEB):c.17853C>T (p.Tyr5951=)
|
rs2153740390
|
|
NM_001164508.2(NEB):c.17856del (p.Ala5953fs)
|
|
|
NM_001164508.2(NEB):c.17859T>C (p.Ala5953=)
|
rs762300305
|
|
NM_001164508.2(NEB):c.1785G>C (p.Val595=)
|
rs2149257978
|
|
NM_001164508.2(NEB):c.17862A>G (p.Glu5954=)
|
rs565162006
|
|
NM_001164508.2(NEB):c.17865T>C (p.His5955=)
|
rs1394078245
|
|
NM_001164508.2(NEB):c.17865T>G (p.His5955Gln)
|
rs1394078245
|
|
NM_001164508.2(NEB):c.17872C>A (p.Gln5958Lys)
|
|
|
NM_001164508.2(NEB):c.17877A>G (p.Lys5959=)
|
|
|
NM_001164508.2(NEB):c.17883T>C (p.His5961=)
|
rs2153740122
|
|
NM_001164508.2(NEB):c.17889T>A (p.Val5963=)
|
rs2153740073
|
|
NM_001164508.2(NEB):c.17895C>T (p.Val5965=)
|
|
|
NM_001164508.2(NEB):c.17896C>G (p.Pro5966Ala)
|
rs2096453351
|
|
NM_001164508.2(NEB):c.17898G>T (p.Pro5966=)
|
rs376655029
|
|
NM_001164508.2(NEB):c.17903T>A (p.Met5968Lys)
|
|
|
NM_001164508.2(NEB):c.17913T>C (p.Asp5971=)
|
rs1167894918
|
|
NM_001164508.2(NEB):c.17914C>T (p.Pro5972Ser)
|
|
|
NM_001164508.2(NEB):c.17915C>A (p.Pro5972His)
|
rs4327235
|
|
NM_001164508.2(NEB):c.17915C>T (p.Pro5972Leu)
|
rs4327235
|
|
NM_001164508.2(NEB):c.17920C>T (p.Leu5974=)
|
rs1577892687
|
|
NM_001164508.2(NEB):c.17925T>G (p.Val5975=)
|
|
|
NM_001164508.2(NEB):c.17928G>A (p.Trp5976Ter)
|
|
|
NM_001164508.2(NEB):c.17931T>C (p.Phe5977=)
|
rs886054938
|
|
NM_001164508.2(NEB):c.17939C>A (p.Ala5980Glu)
|
rs143582290
|
|
NM_001164508.2(NEB):c.17942G>T (p.Gly5981Val)
|
|
|
NM_001164508.2(NEB):c.17943C>T (p.Gly5981=)
|
|
|
NM_001164508.2(NEB):c.17944C>T (p.Gln5982Ter)
|
|
|
NM_001164508.2(NEB):c.17948T>G (p.Ile5983Ser)
|
|
|
NM_001164508.2(NEB):c.17953_18472-56del
|
|
|
NM_001164508.2(NEB):c.17958G>A (p.Glu5986=)
|
rs1453137566
|
|
NM_001164508.2(NEB):c.17959A>C (p.Arg5987=)
|
rs2153739559
|
|
NM_001164508.2(NEB):c.17964A>G (p.Leu5988=)
|
|
|
NM_001164508.2(NEB):c.17965T>A (p.Tyr5989Asn)
|
rs752113075
|
|
NM_001164508.2(NEB):c.17967C>T (p.Tyr5989=)
|
rs2153739503
|
|
NM_001164508.2(NEB):c.17976C>T (p.Asp5992=)
|
rs2153739463
|
|
NM_001164508.2(NEB):c.17980C>G (p.His5994Asp)
|
rs764985237
|
|
NM_001164508.2(NEB):c.17986del (p.Thr5996fs)
|
rs1577890764
|
|
NM_001164508.2(NEB):c.17988A>G (p.Thr5996=)
|
|
|
NM_001164508.2(NEB):c.17989A>T (p.Lys5997Ter)
|
rs2153739384
|
|
NM_001164508.2(NEB):c.17999T>A (p.Ile6000Asn)
|
|
|
NM_001164508.2(NEB):c.18008C>G (p.Pro6003Arg)
|
rs2096449520
|
|
NM_001164508.2(NEB):c.18009T>G (p.Pro6003=)
|
rs2153739253
|
|
NM_001164508.2(NEB):c.1800C>A (p.Asp600Glu)
|
|
|
NM_001164508.2(NEB):c.18015T>C (p.Asp6005=)
|
rs2153739190
|
|
NM_001164508.2(NEB):c.18017T>C (p.Met6006Thr)
|
|
|
NM_001164508.2(NEB):c.18021G>A (p.Val6007=)
|
|
|
NM_001164508.2(NEB):c.18024A>C (p.Ser6008=)
|
|
|
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs)
|
rs748358450
|
|
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer)
|
rs1553601066
|
|
NM_001164508.2(NEB):c.18033C>A (p.Ala6011=)
|
|
|
NM_001164508.2(NEB):c.18036C>T (p.Ala6012=)
|
|
|
NM_001164508.2(NEB):c.18037A>C (p.Lys6013Gln)
|
rs2096448727
|
|
NM_001164508.2(NEB):c.18040C>T (p.Gln6014Ter)
|
rs2153739049
|
|
NM_001164508.2(NEB):c.18045G>A (p.Gly6015=)
|
rs777744742
|
|
NM_001164508.2(NEB):c.18048G>A (p.Gln6016=)
|
rs1014679160
|
|
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val)
|
rs574746662
|
|
NM_001164508.2(NEB):c.18070T>G (p.Tyr6024Asp)
|
|
|
NM_001164508.2(NEB):c.18080A>G (p.Tyr6027Cys)
|
|
|
NM_001164508.2(NEB):c.18081_18089del (p.Tyr6027_Gln6030delinsTer)
|
|
|
NM_001164508.2(NEB):c.18096G>A (p.Met6032Ile)
|
rs764679933
|
|
NM_001164508.2(NEB):c.1809A>G (p.Lys603=)
|
rs2099580703
|
|
NM_001164508.2(NEB):c.18102T>C (p.His6034=)
|
rs2153738695
|
|
NM_001164508.2(NEB):c.18106G>C (p.Asp6036His)
|
|
|
NM_001164508.2(NEB):c.18110A>G (p.Gln6037Arg)
|
|
|
NM_001164508.2(NEB):c.18114C>T (p.Asn6038=)
|
rs753494666
|
|
NM_001164508.2(NEB):c.18117T>C (p.Asp6039=)
|
rs2153738575
|
|
NM_001164508.2(NEB):c.1811del (p.Asn604fs)
|
|
|
NM_001164508.2(NEB):c.18122T>C (p.Ile6041Thr)
|
rs2096445948
|
|
NM_001164508.2(NEB):c.18124C>T (p.Gln6042Ter)
|
rs1577886635
|
|
NM_001164508.2(NEB):c.18127G>A (p.Ala6043Thr)
|
rs1553775860
|
|
NM_001164508.2(NEB):c.1812C>A (p.Asn604Lys)
|
rs772151546
|
|
NM_001164508.2(NEB):c.18136G>C (p.Ala6046Pro)
|
rs2096445433
|
|
NM_001164508.2(NEB):c.18141T>C (p.Tyr6047=)
|
rs1157586879
|
|
NM_001164508.2(NEB):c.18146_18156+7del
|
|
|
NM_001164508.2(NEB):c.18147A>G (p.Leu6049=)
|
rs1326703300
|
|
NM_001164508.2(NEB):c.18149A>C (p.Gln6050Pro)
|
|
|
NM_001164508.2(NEB):c.18149A>G (p.Gln6050Arg)
|
|
|
NM_001164508.2(NEB):c.18152G>A (p.Ser6051Asn)
|
rs1577885822
|
|
NM_001164508.2(NEB):c.18153T>C (p.Ser6051=)
|
rs1381905125
|
|
NM_001164508.2(NEB):c.18156+14G>A
|
|
|
NM_001164508.2(NEB):c.18156+15T>A
|
|
|
NM_001164508.2(NEB):c.18156+20T>A
|
|
|
NM_001164508.2(NEB):c.18156+8A>G
|
rs2153738250
|
|
NM_001164508.2(NEB):c.18157-19T>C
|
|
|
NM_001164508.2(NEB):c.18157-20A>C
|
|
|
NM_001164508.2(NEB):c.18157-2A>G
|
rs925947627
|
|
NM_001164508.2(NEB):c.18157-7C>T
|
|
|
NM_001164508.2(NEB):c.18160G>A (p.Val6054Ile)
|
rs975134897
|
|
NM_001164508.2(NEB):c.18161T>C (p.Val6054Ala)
|
rs1362288800
|
|
NM_001164508.2(NEB):c.18162C>T (p.Val6054=)
|
|
|
NM_001164508.2(NEB):c.18165C>A (p.Tyr6055Ter)
|
|
|
NM_001164508.2(NEB):c.18183G>A (p.Trp6061Ter)
|
|
|
NM_001164508.2(NEB):c.18187C>T (p.Arg6063Ter)
|
|
|
NM_001164508.2(NEB):c.18188G>A (p.Arg6063Gln)
|
|
|
NM_001164508.2(NEB):c.18194T>C (p.Ile6065Thr)
|
|
|
NM_001164508.2(NEB):c.18195T>C (p.Ile6065=)
|
rs2153730840
|
|
NM_001164508.2(NEB):c.18198C>A (p.Gly6066=)
|
rs2153730829
|
|
NM_001164508.2(NEB):c.18210G>T (p.Leu6070=)
|
|
|
NM_001164508.2(NEB):c.18211del (p.Asp6071fs)
|
rs997878946
|
|
NM_001164508.2(NEB):c.18221A>T (p.Asp6074Val)
|
|
|
NM_001164508.2(NEB):c.18222C>T (p.Asp6074=)
|
|
|
NM_001164508.2(NEB):c.18224A>G (p.His6075Arg)
|
|
|
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
|
|
|
NM_001164508.2(NEB):c.18246G>A (p.Gln6082=)
|
|
|
NM_001164508.2(NEB):c.18249A>G (p.Glu6083=)
|
rs2153730681
|
|
NM_001164508.2(NEB):c.1824G>A (p.Met608Ile)
|
|
|
NM_001164508.2(NEB):c.18261+10G>A
|
|
|
NM_001164508.2(NEB):c.18261+12C>T
|
|
|
NM_001164508.2(NEB):c.18261+14A>G
|
|
|
NM_001164508.2(NEB):c.18261+19C>T
|
|
|
NM_001164508.2(NEB):c.18261+19_18261+21del
|
rs1319324645
|
|
NM_001164508.2(NEB):c.18261+1G>A
|
|
|
NM_001164508.2(NEB):c.18261+1G>T
|
rs112544116
|
|
NM_001164508.2(NEB):c.18261+4C>G
|
rs757739475
|
|
NM_001164508.2(NEB):c.18261+4C>T
|
|
|
NM_001164508.2(NEB):c.18261+5G>A
|
rs375167899
|
|
NM_001164508.2(NEB):c.18261+8A>C
|
|
|
NM_001164508.2(NEB):c.18261+8A>G
|
rs1577815538
|
|
NM_001164508.2(NEB):c.18262-12G>A
|
|
|
NM_001164508.2(NEB):c.18262-13C>G
|
|
|
NM_001164508.2(NEB):c.18262-15T>C
|
|
|
NM_001164508.2(NEB):c.18262-18G>A
|
|
|
NM_001164508.2(NEB):c.18262-3C>T
|
|
|
NM_001164508.2(NEB):c.18262-6T>C
|
rs1209057790
|
|
NM_001164508.2(NEB):c.18262-7T>C
|
|
|
NM_001164508.2(NEB):c.18267A>G (p.Lys6089=)
|
|
|
NM_001164508.2(NEB):c.18270T>A (p.Tyr6090Ter)
|
rs2153729960
|
|
NM_001164508.2(NEB):c.18280G>T (p.Ala6094Ser)
|
|
|
NM_001164508.2(NEB):c.18285T>A (p.Leu6095=)
|
rs769252447
|
|
NM_001164508.2(NEB):c.18297T>C (p.Pro6099=)
|
|
|
NM_001164508.2(NEB):c.18297T>G (p.Pro6099=)
|
|
|
NM_001164508.2(NEB):c.182C>G (p.Ala61Gly)
|
rs2099795617
|
|
NM_001164508.2(NEB):c.18300C>T (p.Asn6100=)
|
|
|
NM_001164508.2(NEB):c.18302T>C (p.Phe6101Ser)
|
rs2153729845
|
|
NM_001164508.2(NEB):c.18308G>T (p.Ser6103Ile)
|
|
|
NM_001164508.2(NEB):c.1830A>G (p.Gly610=)
|
rs2099580567
|
|
NM_001164508.2(NEB):c.18310G>C (p.Val6104Leu)
|
rs1253544291
|
|
NM_001164508.2(NEB):c.18310G>T (p.Val6104Leu)
|
|
|
NM_001164508.2(NEB):c.18314T>C (p.Val6105Ala)
|
rs2096324310
|
|
NM_001164508.2(NEB):c.18321T>C (p.Pro6107=)
|
|
|
NM_001164508.2(NEB):c.18324A>G (p.Pro6108=)
|
|
|
NM_001164508.2(NEB):c.18324A>T (p.Pro6108=)
|
|
|
NM_001164508.2(NEB):c.18327G>T (p.Glu6109Asp)
|
rs2096323303
|
|
NM_001164508.2(NEB):c.18339C>T (p.Ala6113=)
|
rs910166443
|
|
NM_001164508.2(NEB):c.18354C>A (p.Val6118=)
|
|
|
NM_001164508.2(NEB):c.18356A>G (p.Asn6119Ser)
|
|
|
NM_001164508.2(NEB):c.18358C>T (p.Gln6120Ter)
|
|
|
NM_001164508.2(NEB):c.18363T>C (p.Ser6121=)
|
|
|
NM_001164508.2(NEB):c.18366+11T>C
|
|
|
NM_001164508.2(NEB):c.18366+13T>A
|
|
|
NM_001164508.2(NEB):c.18366+16G>A
|
|
|
NM_001164508.2(NEB):c.18366+18A>G
|
|
|
NM_001164508.2(NEB):c.18366+20G>A
|
|
|
NM_001164508.2(NEB):c.18366+2T>C
|
rs2153729614
|
|
NM_001164508.2(NEB):c.18366+9G>C
|
|
|
NM_001164508.2(NEB):c.18367-14T>C
|
|
|
NM_001164508.2(NEB):c.18367-15G>T
|
|
|
NM_001164508.2(NEB):c.18367-1_18367delinsAA
|
rs1553770178
|
|
NM_001164508.2(NEB):c.18367-1_18370del
|
rs1553770146
|
|
NM_001164508.2(NEB):c.18367-6C>T
|
|
|
NM_001164508.2(NEB):c.1836C>T (p.Leu612=)
|
|
|
NM_001164508.2(NEB):c.18374A>G (p.Tyr6125Cys)
|
rs2096294914
|
|
NM_001164508.2(NEB):c.18378A>G (p.Lys6126=)
|
|
|
NM_001164508.2(NEB):c.18402C>A (p.Gly6134=)
|
|
|
NM_001164508.2(NEB):c.18406T>C (p.Tyr6136His)
|
|
|
NM_001164508.2(NEB):c.18407A>G (p.Tyr6136Cys)
|
|
|
NM_001164508.2(NEB):c.18408T>C (p.Tyr6136=)
|
rs757188494
|
|
NM_001164508.2(NEB):c.18414T>C (p.Phe6138=)
|
|
|
NM_001164508.2(NEB):c.18415dup (p.Ser6139fs)
|
|
|
NM_001164508.2(NEB):c.18416C>T (p.Ser6139Leu)
|
rs2153726853
|
|
NM_001164508.2(NEB):c.18417A>G (p.Ser6139=)
|
rs2153726842
|
|
NM_001164508.2(NEB):c.18422A>T (p.Asp6141Val)
|
|
|
NM_001164508.2(NEB):c.18423T>A (p.Asp6141Glu)
|
|
|
NM_001164508.2(NEB):c.18425C>A (p.Thr6142Lys)
|
rs377179553
|
|
NM_001164508.2(NEB):c.18431A>T (p.His6144Leu)
|
rs34504204
|
|
NM_001164508.2(NEB):c.18432T>C (p.His6144=)
|
|
|
NM_001164508.2(NEB):c.18435C>T (p.Ile6145=)
|
rs2153726712
|
|
NM_001164508.2(NEB):c.18436T>C (p.Ser6146Pro)
|
rs1231291915
|
|
NM_001164508.2(NEB):c.18444C>T (p.Ser6148=)
|
rs1324616356
|
|
NM_001164508.2(NEB):c.18465C>T (p.Tyr6155=)
|
|
|
NM_001164508.2(NEB):c.18471+10C>T
|
|
|
NM_001164508.2(NEB):c.18471+13T>A
|
|
|
NM_001164508.2(NEB):c.18471+17G>A
|
|
|
NM_001164508.2(NEB):c.18471+1G>C
|
rs1553769576
|
|
NM_001164508.2(NEB):c.18471+9del
|
rs2153726541
|
|
NM_001164508.2(NEB):c.18472-11del
|
|
|
NM_001164508.2(NEB):c.18472-15A>G
|
|
|
NM_001164508.2(NEB):c.18472-17G>A
|
rs2096241034
|
|
NM_001164508.2(NEB):c.18472-19A>G
|
|
|
NM_001164508.2(NEB):c.18472-4C>T
|
|
|
NM_001164508.2(NEB):c.18472-5T>C
|
|
|
NM_001164508.2(NEB):c.18475C>T (p.Leu6159=)
|
|
|
NM_001164508.2(NEB):c.18477G>A (p.Leu6159=)
|
rs1401069525
|
|
NM_001164508.2(NEB):c.18477G>C (p.Leu6159=)
|
rs1401069525
|
|
NM_001164508.2(NEB):c.18489G>C (p.Ala6163=)
|
rs371669095
|
|
NM_001164508.2(NEB):c.18496G>A (p.Gly6166Ser)
|
rs1239862833
|
|
NM_001164508.2(NEB):c.1849G>A (p.Asp617Asn)
|
|
|
NM_001164508.2(NEB):c.18501C>T (p.Thr6167=)
|
rs2153721450
|
|
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs)
|
rs747282057
|
|
NM_001164508.2(NEB):c.18507C>G (p.Ala6169=)
|
|
|
NM_001164508.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del)
|
rs1553767010
|
|
NM_001164508.2(NEB):c.18515A>G (p.Tyr6172Cys)
|
|
|
NM_001164508.2(NEB):c.18517A>C (p.Thr6173Pro)
|
|
|
NM_001164508.2(NEB):c.18520C>T (p.Leu6174=)
|
rs2153721363
|
|
NM_001164508.2(NEB):c.18523G>A (p.Asp6175Asn)
|
|
|
NM_001164508.2(NEB):c.18529C>T (p.Arg6177Cys)
|
|
|
NM_001164508.2(NEB):c.18538C>T (p.Pro6180Ser)
|
|
|
NM_001164508.2(NEB):c.18541A>T (p.Ile6181Phe)
|
|
|
NM_001164508.2(NEB):c.1854C>A (p.Pro618=)
|
|
|
NM_001164508.2(NEB):c.1854C>G (p.Pro618=)
|
rs1469092630
|
|
NM_001164508.2(NEB):c.18552C>A (p.Ala6184=)
|
|
|
NM_001164508.2(NEB):c.18552C>T (p.Ala6184=)
|
|
|
NM_001164508.2(NEB):c.18559G>A (p.Ala6187Thr)
|
rs994460843
|
|
NM_001164508.2(NEB):c.18565C>T (p.Leu6189=)
|
|
|
NM_001164508.2(NEB):c.18572A>G (p.Asn6191Ser)
|
rs2096236392
|
|
NM_001164508.2(NEB):c.18575G>C (p.Ser6192Thr)
|
|
|
NM_001164508.2(NEB):c.18579+11C>T
|
rs567282220
|
|
NM_001164508.2(NEB):c.18579+15T>C
|
rs2096234308
|
|
NM_001164508.2(NEB):c.18579+8T>G
|
rs2153721033
|
|
NM_001164508.2(NEB):c.18579+9G>A
|
rs780126337
|
|
NM_001164508.2(NEB):c.18579+9G>C
|
rs780126337
|
|
NM_001164508.2(NEB):c.18580-10C>G
|
|
|
NM_001164508.2(NEB):c.18580-19T>C
|
|
|
NM_001164508.2(NEB):c.18580-20del
|
|
|
NM_001164508.2(NEB):c.18580-8_18608del
|
|
|
NM_001164508.2(NEB):c.18591A>G (p.Lys6197=)
|
rs2153719995
|
|
NM_001164508.2(NEB):c.18594G>A (p.Glu6198=)
|
rs1052632945
|
|
NM_001164508.2(NEB):c.18594del (p.Thr6199fs)
|
|
|
NM_001164508.2(NEB):c.18596C>T (p.Thr6199Ile)
|
rs1331648772
|
|
NM_001164508.2(NEB):c.18597A>G (p.Thr6199=)
|
|
|
NM_001164508.2(NEB):c.18597del (p.Tyr6200fs)
|
rs797045735
|
|
NM_001164508.2(NEB):c.18599A>G (p.Tyr6200Cys)
|
|
|
NM_001164508.2(NEB):c.18600T>C (p.Tyr6200=)
|
rs1577711346
|
|
NM_001164508.2(NEB):c.18603G>C (p.Glu6201Asp)
|
|
|
NM_001164508.2(NEB):c.18606G>A (p.Lys6202=)
|
rs2153719853
|
|
NM_001164508.2(NEB):c.18609G>A (p.Gln6203=)
|
|
|
NM_001164508.2(NEB):c.1861C>T (p.Leu621=)
|
|
|
NM_001164508.2(NEB):c.18621C>T (p.Tyr6207=)
|
|
|
NM_001164508.2(NEB):c.18624G>A (p.Leu6208=)
|
rs1234623857
|
|
NM_001164508.2(NEB):c.18624G>T (p.Leu6208=)
|
rs1234623857
|
|
NM_001164508.2(NEB):c.18656T>G (p.Val6219Gly)
|
rs753261774
|
|
NM_001164508.2(NEB):c.18662A>C (p.His6221Pro)
|
|
|
NM_001164508.2(NEB):c.18665G>A (p.Cys6222Tyr)
|
|
|
NM_001164508.2(NEB):c.1866C>T (p.His622=)
|
|
|
NM_001164508.2(NEB):c.18683T>A (p.Met6228Lys)
|
|
|
NM_001164508.2(NEB):c.18687G>A (p.Arg6229=)
|
rs2153719286
|
|
NM_001164508.2(NEB):c.18691G>A (p.Ala6231Thr)
|
|
|
NM_001164508.2(NEB):c.18692C>A (p.Ala6231Glu)
|
|
|
NM_001164508.2(NEB):c.18692C>T (p.Ala6231Val)
|
rs375357016
|
|
NM_001164508.2(NEB):c.18693+12del
|
|
|
NM_001164508.2(NEB):c.18693+5G>C
|
rs377482159
|
|
NM_001164508.2(NEB):c.18694-19T>C
|
|
|
NM_001164508.2(NEB):c.18694-1G>A
|
rs2153712182
|
|
NM_001164508.2(NEB):c.18694-2del
|
rs1553763404
|
|
NM_001164508.2(NEB):c.18694-5A>G
|
|
|
NM_001164508.2(NEB):c.18694-6_18694-2del
|
rs1377029367
|
|
NM_001164508.2(NEB):c.18694-9del
|
rs753417927
|
|
NM_001164508.2(NEB):c.18694-9dup
|
rs753417927
|
|
NM_001164508.2(NEB):c.18699C>T (p.Asn6233=)
|
|
|
NM_001164508.2(NEB):c.1869C>A (p.Ser623=)
|
|
|
NM_001164508.2(NEB):c.1869C>T (p.Ser623=)
|
|
|
NM_001164508.2(NEB):c.18701A>G (p.Tyr6234Cys)
|
|
|
NM_001164508.2(NEB):c.18702C>T (p.Tyr6234=)
|
rs757855431
|
|
NM_001164508.2(NEB):c.18703_18704insT (p.Arg6235fs)
|
|
|
NM_001164508.2(NEB):c.18714T>G (p.Tyr6238Ter)
|
rs2153712099
|
|
NM_001164508.2(NEB):c.18723C>T (p.Thr6241=)
|
rs2153712061
|
|
NM_001164508.2(NEB):c.18724A>G (p.Lys6242Glu)
|
rs886054937
|
|
NM_001164508.2(NEB):c.18724A>T (p.Lys6242Ter)
|
|
|
NM_001164508.2(NEB):c.18733G>A (p.Val6245Ile)
|
|
|
NM_001164508.2(NEB):c.18741C>A (p.Ile6247=)
|
rs1577665038
|
|
NM_001164508.2(NEB):c.18748G>A (p.Asp6250Asn)
|
|
|
NM_001164508.2(NEB):c.1874A>C (p.Lys625Thr)
|
|
|
NM_001164508.2(NEB):c.18751A>G (p.Met6251Val)
|
|
|
NM_001164508.2(NEB):c.18763G>T (p.Val6255Leu)
|
rs781706876
|
|
NM_001164508.2(NEB):c.18769del (p.Ala6257fs)
|
|
|
NM_001164508.2(NEB):c.18774_18775del (p.Arg6259fs)
|
|
|
NM_001164508.2(NEB):c.18781C>T (p.Gln6261Ter)
|
|
|
NM_001164508.2(NEB):c.18787A>G (p.Ile6263Val)
|
|
|
NM_001164508.2(NEB):c.18795_18796del (p.Ser6265fs)
|
|
|
NM_001164508.2(NEB):c.18799C>T (p.Leu6267=)
|
|
|
NM_001164508.2(NEB):c.18804G>A (p.Glu6268=)
|
rs1577663381
|
|
NM_001164508.2(NEB):c.18804G>C (p.Glu6268Asp)
|
|
|
NM_001164508.2(NEB):c.18807T>C (p.Tyr6269=)
|
|
|
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter)
|
rs754369875
|
|
NM_001164508.2(NEB):c.18809_18811del (p.Arg6270del)
|
rs1553762776
|
|
NM_001164508.2(NEB):c.18809del (p.Arg6270fs)
|
|
|
NM_001164508.2(NEB):c.18814T>C (p.Tyr6272His)
|
rs921387109
|
|
NM_001164508.2(NEB):c.1881C>G (p.Ala627=)
|
rs2149255363
|
|
NM_001164508.2(NEB):c.18823C>A (p.Gln6275Lys)
|
|
|
NM_001164508.2(NEB):c.18823C>G (p.Gln6275Glu)
|
|
|
NM_001164508.2(NEB):c.18828G>A (p.Trp6276Ter)
|
rs2153711477
|
|
NM_001164508.2(NEB):c.18839_18841delinsA (p.Leu6280fs)
|
|
|
NM_001164508.2(NEB):c.1883A>C (p.Lys628Thr)
|
rs1176664285
|
|
NM_001164508.2(NEB):c.1883A>G (p.Lys628Arg)
|
rs1176664285
|
|
NM_001164508.2(NEB):c.18842A>G (p.Glu6281Gly)
|
rs768965998
|
|
NM_001164508.2(NEB):c.18847C>T (p.Pro6283Ser)
|
|
|
NM_001164508.2(NEB):c.18849C>T (p.Pro6283=)
|
|
|
NM_001164508.2(NEB):c.18852T>C (p.Asn6284=)
|
rs1362922636
|
|
NM_001164508.2(NEB):c.18857T>C (p.Ile6286Thr)
|
|
|
NM_001164508.2(NEB):c.18858A>G (p.Ile6286Met)
|
|
|
NM_001164508.2(NEB):c.18862G>T (p.Val6288Phe)
|
|
|
NM_001164508.2(NEB):c.18870C>A (p.Asn6290Lys)
|
rs200122580
|
|
NM_001164508.2(NEB):c.18871G>A (p.Ala6291Thr)
|
|
|
NM_001164508.2(NEB):c.18872C>T (p.Ala6291Val)
|
|
|
NM_001164508.2(NEB):c.18873C>T (p.Ala6291=)
|
|
|
NM_001164508.2(NEB):c.18876G>A (p.Gln6292=)
|
|
|
NM_001164508.2(NEB):c.18881T>C (p.Ile6294Thr)
|
|
|
NM_001164508.2(NEB):c.18891+14T>C
|
|
|
NM_001164508.2(NEB):c.18891+18C>T
|
|
|
NM_001164508.2(NEB):c.18891+8G>A
|
|
|
NM_001164508.2(NEB):c.18891+9T>A
|
rs2153711124
|
|
NM_001164508.2(NEB):c.18892-13C>G
|
|
|
NM_001164508.2(NEB):c.18892-15CT[2]
|
|
|
NM_001164508.2(NEB):c.18892-18G>T
|
|
|
NM_001164508.2(NEB):c.18892-4G>A
|
rs2153709102
|
|
NM_001164508.2(NEB):c.18892-8T>A
|
|
|
NM_001164508.2(NEB):c.18892-8T>C
|
|
|
NM_001164508.2(NEB):c.18893A>G (p.Asn6298Ser)
|
rs781054657
|
|
NM_001164508.2(NEB):c.18893A>T (p.Asn6298Ile)
|
|
|
NM_001164508.2(NEB):c.18894T>C (p.Asn6298=)
|
rs754749448
|
|
NM_001164508.2(NEB):c.18897G>A (p.Val6299=)
|
rs568599013
|
|
NM_001164508.2(NEB):c.18900T>A (p.Tyr6300Ter)
|
|
|
NM_001164508.2(NEB):c.18900T>C (p.Tyr6300=)
|
rs1393913548
|
|
NM_001164508.2(NEB):c.18908A>C (p.Asp6303Ala)
|
|
|
NM_001164508.2(NEB):c.18909C>A (p.Asp6303Glu)
|
|
|
NM_001164508.2(NEB):c.18910C>T (p.Leu6304=)
|
|
|
NM_001164508.2(NEB):c.18915T>C (p.Asn6305=)
|
rs1436289680
|
|
NM_001164508.2(NEB):c.18918G>T (p.Trp6306Cys)
|
rs1559952676
|
|
NM_001164508.2(NEB):c.18923A>G (p.Lys6308Arg)
|
|
|
NM_001164508.2(NEB):c.18937del (p.Tyr6313fs)
|
|
|
NM_001164508.2(NEB):c.1893T>C (p.Ser631=)
|
|
|
NM_001164508.2(NEB):c.18940G>A (p.Val6314Ile)
|
rs764044045
|
|
NM_001164508.2(NEB):c.18945G>A (p.Trp6315Ter)
|
|
|
NM_001164508.2(NEB):c.18953C>T (p.Pro6318Leu)
|
rs267598920
|
|
NM_001164508.2(NEB):c.18955C>A (p.Gln6319Lys)
|
|
|
NM_001164508.2(NEB):c.18955C>T (p.Gln6319Ter)
|
|
|
NM_001164508.2(NEB):c.1896+14T>C
|
|
|
NM_001164508.2(NEB):c.1896+15A>G
|
|
|
NM_001164508.2(NEB):c.1896+4_1896+5del
|
|
|
NM_001164508.2(NEB):c.1896+7T>A
|
rs1553600682
|
|
NM_001164508.2(NEB):c.1896+9C>G
|
|
|
NM_001164508.2(NEB):c.18962T>A (p.Leu6321His)
|
|
|
NM_001164508.2(NEB):c.18963C>T (p.Leu6321=)
|
rs1577636859
|
|
NM_001164508.2(NEB):c.18966T>C (p.His6322=)
|
rs2153708805
|
|
NM_001164508.2(NEB):c.1897-10C>A
|
rs2149174348
|
|
NM_001164508.2(NEB):c.1897-1G>A
|
rs1553593177
|
|
NM_001164508.2(NEB):c.1897-20_1897-16del
|
|
|
NM_001164508.2(NEB):c.18972G>A (p.Lys6324=)
|
rs2153708778
|
|
NM_001164508.2(NEB):c.18978A>T (p.Ser6326=)
|
|
|
NM_001164508.2(NEB):c.18981C>A (p.Tyr6327Ter)
|
rs761964375
|
|
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter)
|
rs761964375
|
|
NM_001164508.2(NEB):c.18982G>A (p.Asp6328Asn)
|
|
|
NM_001164508.2(NEB):c.18996+10C>T
|
rs772798498
|
|
NM_001164508.2(NEB):c.18996+19A>G
|
rs2153708574
|
|
NM_001164508.2(NEB):c.18996+2T>C
|
rs1577636079
|
|
NM_001164508.2(NEB):c.18996+7C>T
|
rs2153708653
|
|
NM_001164508.2(NEB):c.18997-10T>C
|
rs4544436
|
|
NM_001164508.2(NEB):c.18997-10T>G
|
rs4544436
|
|
NM_001164508.2(NEB):c.18997-13T>C
|
|
|
NM_001164508.2(NEB):c.18997-16T>C
|
|
|
NM_001164508.2(NEB):c.18997-16_18997-15del
|
|
|
NM_001164508.2(NEB):c.18997-7T>C
|
rs2153703521
|
|
NM_001164508.2(NEB):c.1899A>G (p.Arg633=)
|
|
|
NM_001164508.2(NEB):c.19000C>T (p.Gln6334Ter)
|
|
|
NM_001164508.2(NEB):c.19001A>T (p.Gln6334Leu)
|
|
|
NM_001164508.2(NEB):c.19008A>G (p.Thr6336=)
|
|
|
NM_001164508.2(NEB):c.1900T>C (p.Leu634=)
|
rs1576526817
|
|
NM_001164508.2(NEB):c.19016G>A (p.Gly6339Asp)
|
|
|
NM_001164508.2(NEB):c.19030C>A (p.Gln6344Lys)
|
|
|
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter)
|
rs1559940778
|
|
NM_001164508.2(NEB):c.19032A>G (p.Gln6344=)
|
rs1456812374
|
|
NM_001164508.2(NEB):c.19036_19057del (p.Tyr6346fs)
|
|
|
NM_001164508.2(NEB):c.19041T>C (p.Asn6347=)
|
rs2153703352
|
|
NM_001164508.2(NEB):c.19047C>G (p.Val6349=)
|
|
|
NM_001164508.2(NEB):c.19050A>C (p.Thr6350=)
|
rs2096024287
|
|
NM_001164508.2(NEB):c.19055C>G (p.Thr6352Arg)
|
|
|
NM_001164508.2(NEB):c.19055C>T (p.Thr6352Met)
|
|
|
NM_001164508.2(NEB):c.19056G>A (p.Thr6352=)
|
rs115631125
|
|
NM_001164508.2(NEB):c.19057C>T (p.Pro6353Ser)
|
|
|
NM_001164508.2(NEB):c.1905C>G (p.Tyr635Ter)
|
|
|
NM_001164508.2(NEB):c.19064A>G (p.Tyr6355Cys)
|
rs968608271
|
|
NM_001164508.2(NEB):c.19065T>C (p.Tyr6355=)
|
rs2153703224
|
|
NM_001164508.2(NEB):c.19068G>A (p.Val6356=)
|
rs2096022831
|
|
NM_001164508.2(NEB):c.19075G>C (p.Val6359Leu)
|
|
|
NM_001164508.2(NEB):c.19078C>T (p.Gln6360Ter)
|
rs2153703181
|
|
NM_001164508.2(NEB):c.19078_19079del (p.Gln6360fs)
|
|
|
NM_001164508.2(NEB):c.19086C>A (p.Gly6362=)
|
rs914386216
|
|
NM_001164508.2(NEB):c.19086C>T (p.Gly6362=)
|
|
|
NM_001164508.2(NEB):c.19092T>A (p.Asn6364Lys)
|
rs2096022022
|
|
NM_001164508.2(NEB):c.19097G>A (p.Ser6366Asn)
|
rs191579691
|
|
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile)
|
rs191579691
|
|
NM_001164508.2(NEB):c.19101+13G>A
|
|
|
NM_001164508.2(NEB):c.19101+18C>T
|
rs988730874
|
|
NM_001164508.2(NEB):c.19101+1G>A
|
|
|
NM_001164508.2(NEB):c.19102-10_19102-4del
|
rs1577576425
|
|
NM_001164508.2(NEB):c.19102-12G>T
|
|
|
NM_001164508.2(NEB):c.19102-15G>A
|
|
|
NM_001164508.2(NEB):c.19102-15G>T
|
|
|
NM_001164508.2(NEB):c.19102-16T>G
|
|
|
NM_001164508.2(NEB):c.19102-31_19102-30del
|
rs774225336
|
|
NM_001164508.2(NEB):c.19102-9T>C
|
rs1357577227
|
|
NM_001164508.2(NEB):c.19102G>A (p.Val6368Ile)
|
|
|
NM_001164508.2(NEB):c.19104A>C (p.Val6368=)
|
rs1577576100
|
|
NM_001164508.2(NEB):c.19106_19107del (p.Lys6369fs)
|
|
|
NM_001164508.2(NEB):c.19126_19151del (p.Gln6376fs)
|
rs1553757097
|
|
NM_001164508.2(NEB):c.19131T>A (p.Ile6377=)
|
|
|
NM_001164508.2(NEB):c.19131T>C (p.Ile6377=)
|
|
|
NM_001164508.2(NEB):c.19132A>G (p.Lys6378Glu)
|
|
|
NM_001164508.2(NEB):c.19137C>T (p.Asp6379=)
|
rs778962225
|
|
NM_001164508.2(NEB):c.19142A>G (p.Tyr6381Cys)
|
|
|
NM_001164508.2(NEB):c.19143C>T (p.Tyr6381=)
|
rs2153702327
|
|
NM_001164508.2(NEB):c.19144A>G (p.Thr6382Ala)
|
|
|
NM_001164508.2(NEB):c.19149A>T (p.Thr6383=)
|
|
|
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)
|
rs2153702280
|
|
NM_001164508.2(NEB):c.19162G>A (p.Val6388Met)
|
rs2096008692
|
|
NM_001164508.2(NEB):c.19168del (p.Tyr6390fs)
|
|
|
NM_001164508.2(NEB):c.1916A>G (p.Tyr639Cys)
|
rs1559315113
|
|
NM_001164508.2(NEB):c.19170T>C (p.Tyr6390=)
|
rs1377275105
|
|
NM_001164508.2(NEB):c.19179C>G (p.Thr6393=)
|
|
|
NM_001164508.2(NEB):c.19188G>A (p.Leu6396=)
|
rs2153702177
|
|
NM_001164508.2(NEB):c.19191G>A (p.Lys6397=)
|
rs2153702171
|
|
NM_001164508.2(NEB):c.19194T>C (p.Asn6398=)
|
rs2153702166
|
|
NM_001164508.2(NEB):c.19197T>C (p.Leu6399=)
|
|
|
NM_001164508.2(NEB):c.19198T>C (p.Tyr6400His)
|
|
|
NM_001164508.2(NEB):c.19206+10G>A
|
|
|
NM_001164508.2(NEB):c.19206+14T>A
|
|
|
NM_001164508.2(NEB):c.19206+14T>C
|
|
|
NM_001164508.2(NEB):c.19206+16T>C
|
|
|
NM_001164508.2(NEB):c.19206+17T>A
|
|
|
NM_001164508.2(NEB):c.19206+17T>C
|
|
|
NM_001164508.2(NEB):c.19206+18T>C
|
rs771605004
|
|
NM_001164508.2(NEB):c.19206+18T>G
|
rs771605004
|
|
NM_001164508.2(NEB):c.19206+18del
|
rs761735803
|
|
NM_001164508.2(NEB):c.19206+18dup
|
|
|
NM_001164508.2(NEB):c.19206+19C>T
|
|
|
NM_001164508.2(NEB):c.19206+7T>A
|
|
|
NM_001164508.2(NEB):c.19207-16T>A
|
|
|
NM_001164508.2(NEB):c.19207-17G>A
|
|
|
NM_001164508.2(NEB):c.19207-17G>T
|
|
|
NM_001164508.2(NEB):c.19207-1G>A
|
rs1553755829
|
|
NM_001164508.2(NEB):c.19207-20_19207-18del
|
rs768751352
|
|
NM_001164508.2(NEB):c.19207-6C>A
|
rs1467246404
|
|
NM_001164508.2(NEB):c.19207-7C>T
|
|
|
NM_001164508.2(NEB):c.19209C>T (p.Asn6403=)
|
|
|
NM_001164508.2(NEB):c.1920_1921delinsTT (p.Glu640_Lys641delinsAspTer)
|
|
|
NM_001164508.2(NEB):c.19210C>G (p.Leu6404Val)
|
|
|
NM_001164508.2(NEB):c.19211T>C (p.Leu6404Pro)
|
|
|
NM_001164508.2(NEB):c.19212G>A (p.Leu6404=)
|
rs1214330371
|
|
NM_001164508.2(NEB):c.19214dup (p.Tyr6405Ter)
|
|
|
NM_001164508.2(NEB):c.19215C>T (p.Tyr6405=)
|
rs767017098
|
|
NM_001164508.2(NEB):c.19223C>T (p.Ala6408Val)
|
|
|
NM_001164508.2(NEB):c.19224C>T (p.Ala6408=)
|
|
|
NM_001164508.2(NEB):c.19232G>C (p.Arg6411Thr)
|
|
|
NM_001164508.2(NEB):c.19234G>T (p.Val6412Leu)
|
rs2095980616
|
|
NM_001164508.2(NEB):c.19245C>G (p.Thr6415=)
|
rs967486464
|
|
NM_001164508.2(NEB):c.1924A>G (p.Thr642Ala)
|
|
|
NM_001164508.2(NEB):c.19251C>T (p.Tyr6417=)
|
|
|
NM_001164508.2(NEB):c.19254C>T (p.Ile6418=)
|
rs2095979199
|
|
NM_001164508.2(NEB):c.1925C>A (p.Thr642Lys)
|
|
|
NM_001164508.2(NEB):c.19275C>T (p.Ser6425=)
|
rs746083931
|
|
NM_001164508.2(NEB):c.19283_19284del (p.His6428fs)
|
|
|
NM_001164508.2(NEB):c.19284C>G (p.His6428Gln)
|
rs201005449
|
|
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)
|
rs796065338
|
|
NM_001164508.2(NEB):c.19286C>T (p.Ala6429Val)
|
|
|
NM_001164508.2(NEB):c.19293C>T (p.Asn6431=)
|
rs2153700140
|
|
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter)
|
rs2153700128
|
|
NM_001164508.2(NEB):c.1929G>A (p.Lys643=)
|
|
|
NM_001164508.2(NEB):c.19301A>C (p.His6434Pro)
|
rs1577553776
|
|
NM_001164508.2(NEB):c.19307_19308del (p.Ala6436fs)
|
|
|
NM_001164508.2(NEB):c.19314+14A>G
|
|
|
NM_001164508.2(NEB):c.19314+17C>T
|
|
|
NM_001164508.2(NEB):c.19314+18A>G
|
|
|
NM_001164508.2(NEB):c.19314+20G>A
|
|
|
NM_001164508.2(NEB):c.19314+20G>T
|
|
|
NM_001164508.2(NEB):c.19314+7A>T
|
rs2153700039
|
|
NM_001164508.2(NEB):c.19315-3T>C
|
rs756491764
|
|
NM_001164508.2(NEB):c.19315-6C>T
|
|
|
NM_001164508.2(NEB):c.19315-8C>G
|
|
|
NM_001164508.2(NEB):c.19317C>A (p.Ile6439=)
|
|
|
NM_001164508.2(NEB):c.1932A>G (p.Ala644=)
|
rs1220980810
|
|
NM_001164508.2(NEB):c.19335T>C (p.Tyr6445=)
|
rs1412742054
|
|
NM_001164508.2(NEB):c.19337A>G (p.Glu6446Gly)
|
rs2153666324
|
|
NM_001164508.2(NEB):c.1933_1934del (p.Lys645fs)
|
rs2149172715
|
|
NM_001164508.2(NEB):c.1934A>G (p.Lys645Arg)
|
|
|
NM_001164508.2(NEB):c.19350T>C (p.Ala6450=)
|
rs1351602890
|
|
NM_001164508.2(NEB):c.19356T>A (p.Tyr6452Ter)
|
|
|
NM_001164508.2(NEB):c.19356T>C (p.Tyr6452=)
|
rs761666021
|
|
NM_001164508.2(NEB):c.19357A>G (p.Thr6453Ala)
|
rs968182845
|
|
NM_001164508.2(NEB):c.19359G>A (p.Thr6453=)
|
rs1382610541
|
|
NM_001164508.2(NEB):c.1935G>A (p.Lys645=)
|
rs2149172557
|
|
NM_001164508.2(NEB):c.19360T>C (p.Leu6454=)
|
|
|
NM_001164508.2(NEB):c.19362A>G (p.Leu6454=)
|
rs2153666184
|
|
NM_001164508.2(NEB):c.19371T>C (p.Ser6457=)
|
|
|
NM_001164508.2(NEB):c.19371T>G (p.Ser6457Arg)
|
|
|
NM_001164508.2(NEB):c.19374delinsAC (p.Asp6459fs)
|
|
|
NM_001164508.2(NEB):c.19382_19383delinsTG (p.Asp6461Val)
|
|
|
NM_001164508.2(NEB):c.19384_19387del (p.Pro6462fs)
|
|
|
NM_001164508.2(NEB):c.19392A>G (p.Thr6464=)
|
|
|
NM_001164508.2(NEB):c.19396C>T (p.Arg6466Trp)
|
|
|
NM_001164508.2(NEB):c.19397G>A (p.Arg6466Gln)
|
rs747425038
|
|
NM_001164508.2(NEB):c.19398G>A (p.Arg6466=)
|
rs867834427
|
|
NM_001164508.2(NEB):c.19400G>C (p.Cys6467Ser)
|
rs1577306997
|
|
NM_001164508.2(NEB):c.19406G>C (p.Arg6469Pro)
|
rs556624010
|
|
NM_001164508.2(NEB):c.19410T>G (p.Val6470=)
|
|
|
NM_001164508.2(NEB):c.19422C>T (p.Asn6474=)
|
|
|
NM_001164508.2(NEB):c.19428+11T>G
|
|
|
NM_001164508.2(NEB):c.19428+12C>T
|
|
|
NM_001164508.2(NEB):c.19428+14T>A
|
|
|
NM_001164508.2(NEB):c.19428+14T>C
|
|
|
NM_001164508.2(NEB):c.19428+16C>A
|
|
|
NM_001164508.2(NEB):c.19428+16C>T
|
rs1022784479
|
|
NM_001164508.2(NEB):c.19428+17G>A
|
|
|
NM_001164508.2(NEB):c.19428+19C>T
|
|
|
NM_001164508.2(NEB):c.19428+8C>A
|
rs773614835
|
|
NM_001164508.2(NEB):c.19428+8C>T
|
rs773614835
|
|
NM_001164508.2(NEB):c.19428T>C (p.Asp6476=)
|
rs1390912272
|
|
NM_001164508.2(NEB):c.19429-11dup
|
|
|
NM_001164508.2(NEB):c.19429-18G>A
|
|
|
NM_001164508.2(NEB):c.19429-20A>T
|
|
|
NM_001164508.2(NEB):c.19429-7T>C
|
rs561767644
|
|
NM_001164508.2(NEB):c.19429C>A (p.Arg6477Ser)
|
|
|
NM_001164508.2(NEB):c.19429C>T (p.Arg6477Cys)
|
rs765181095
|
|
NM_001164508.2(NEB):c.19431C>A (p.Arg6477=)
|
rs991196845
|
|
NM_001164508.2(NEB):c.19431C>G (p.Arg6477=)
|
rs991196845
|
|
NM_001164508.2(NEB):c.19434G>A (p.Leu6478=)
|
|
|
NM_001164508.2(NEB):c.19436A>G (p.Tyr6479Cys)
|
|
|
NM_001164508.2(NEB):c.19442C>A (p.Ser6481Ter)
|
|
|
NM_001164508.2(NEB):c.19443A>G (p.Ser6481=)
|
|
|
NM_001164508.2(NEB):c.19470C>A (p.Ile6490=)
|
|
|
NM_001164508.2(NEB):c.19470C>T (p.Ile6490=)
|
|
|
NM_001164508.2(NEB):c.19479G>A (p.Val6493=)
|
rs1371784327
|
|
NM_001164508.2(NEB):c.19482C>G (p.Pro6494=)
|
|
|
NM_001164508.2(NEB):c.1948T>C (p.Cys650Arg)
|
|
|
NM_001164508.2(NEB):c.19491A>T (p.Val6497=)
|
|
|
NM_001164508.2(NEB):c.19494G>A (p.Glu6498=)
|
rs2153660479
|
|
NM_001164508.2(NEB):c.19495A>G (p.Met6499Val)
|
rs2095482134
|
|
NM_001164508.2(NEB):c.19496T>C (p.Met6499Thr)
|
|
|
NM_001164508.2(NEB):c.19499T>G (p.Val6500Gly)
|
|
|
NM_001164508.2(NEB):c.1949G>A (p.Cys650Tyr)
|
|
|
NM_001164508.2(NEB):c.19506C>T (p.Ala6502=)
|
rs1011926091
|
|
NM_001164508.2(NEB):c.19511A>T (p.Asp6504Val)
|
|
|
NM_001164508.2(NEB):c.19518GAA[1] (p.Lys6508del)
|
rs1553736221
|
|
NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)
|
|
|
NM_001164508.2(NEB):c.19529G>A (p.Ser6510Asn)
|
|
|
NM_001164508.2(NEB):c.1952A>T (p.Glu651Val)
|
rs1553592436
|
|
NM_001164508.2(NEB):c.19530T>C (p.Ser6510=)
|
rs1205003159
|
|
NM_001164508.2(NEB):c.19534A>G (p.Ile6512Val)
|
rs2095480638
|
|
NM_001164508.2(NEB):c.19542C>T (p.Tyr6514=)
|
|
|
NM_001164508.2(NEB):c.19546C>T (p.Leu6516=)
|
|
|
NM_001164508.2(NEB):c.19548G>A (p.Leu6516=)
|
rs2153660221
|
|
NM_001164508.2(NEB):c.19549C>T (p.Arg6517Cys)
|
|
|
NM_001164508.2(NEB):c.19566T>C (p.Ile6522=)
|
|
|
NM_001164508.2(NEB):c.19569C>T (p.Cys6523=)
|
rs1577263927
|
|
NM_001164508.2(NEB):c.1956C>T (p.Thr652=)
|
|
|
NM_001164508.2(NEB):c.19573C>T (p.Pro6525Ser)
|
|
|
NM_001164508.2(NEB):c.19575del (p.Asp6526fs)
|
|
|
NM_001164508.2(NEB):c.19579T>C (p.Leu6527=)
|
rs2153660059
|
|
NM_001164508.2(NEB):c.19581G>A (p.Leu6527=)
|
rs371019748
|
|
NM_001164508.2(NEB):c.19583A>C (p.Gln6528Pro)
|
rs2153660026
|
|
NM_001164508.2(NEB):c.19583A>G (p.Gln6528Arg)
|
|
|
NM_001164508.2(NEB):c.19593T>C (p.Asp6531=)
|
rs886054935
|
|
NM_001164508.2(NEB):c.19599C>G (p.Val6533=)
|
|
|
NM_001164508.2(NEB):c.195G>C (p.Pro65=)
|
rs79524813
|
|
NM_001164508.2(NEB):c.19603A>G (p.Lys6535Glu)
|
rs898837153
|
|
NM_001164508.2(NEB):c.19604A>G (p.Lys6535Arg)
|
|
|
NM_001164508.2(NEB):c.19608C>T (p.Val6536=)
|
rs1483543704
|
|
NM_001164508.2(NEB):c.19620C>T (p.Ile6540=)
|
rs2153659870
|
|
NM_001164508.2(NEB):c.19621del (p.Ser6541fs)
|
rs2153659861
|
|
NM_001164508.2(NEB):c.19623C>T (p.Ser6541=)
|
rs2095477737
|
|
NM_001164508.2(NEB):c.19624_19625insGTA (p.Asp6542delinsGlyAsn)
|
rs2153659819
|
|
NM_001164508.2(NEB):c.19626+10T>C
|
rs2153659730
|
|
NM_001164508.2(NEB):c.19626+13C>T
|
|
|
NM_001164508.2(NEB):c.19626+1G>A
|
rs756352186
|
|
NM_001164508.2(NEB):c.19626+7C>T
|
|
|
NM_001164508.2(NEB):c.19627-15A>G
|
|
|
NM_001164508.2(NEB):c.19627-19T>A
|
rs2153658052
|
|
NM_001164508.2(NEB):c.19627-4C>G
|
|
|
NM_001164508.2(NEB):c.19627-7C>T
|
|
|
NM_001164508.2(NEB):c.19627-9A>T
|
|
|
NM_001164508.2(NEB):c.19629T>C (p.Ile6543=)
|
rs2153657821
|
|
NM_001164508.2(NEB):c.19632A>G (p.Val6544=)
|
rs2095452627
|
|
NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter)
|
rs1335300113
|
|
NM_001164508.2(NEB):c.19635C>G (p.Tyr6545Ter)
|
rs1335300113
|
|
NM_001164508.2(NEB):c.19647C>T (p.Leu6549=)
|
rs2153657724
|
|
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter)
|
rs2153657682
|
|
NM_001164508.2(NEB):c.1965T>C (p.Tyr655=)
|
rs1576524196
|
|
NM_001164508.2(NEB):c.19671C>T (p.Cys6557=)
|
|
|
NM_001164508.2(NEB):c.19686T>G (p.Thr6562=)
|
rs886054934
|
|
NM_001164508.2(NEB):c.19687C>A (p.Pro6563Thr)
|
|
|
NM_001164508.2(NEB):c.19698C>G (p.Leu6566=)
|
rs776472016
|
|
NM_001164508.2(NEB):c.19698C>T (p.Leu6566=)
|
|
|
NM_001164508.2(NEB):c.19700A>G (p.His6567Arg)
|
|
|
NM_001164508.2(NEB):c.19704C>G (p.Ala6568=)
|
rs760335435
|
|
NM_001164508.2(NEB):c.19711_19714del (p.Ala6571fs)
|
rs1577244250
|
|
NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs)
|
rs587780397
|
|
NM_001164508.2(NEB):c.19713T>C (p.Ala6571=)
|
|
|
NM_001164508.2(NEB):c.19715A>G (p.Tyr6572Cys)
|
|
|
NM_001164508.2(NEB):c.19724G>T (p.Arg6575Leu)
|
rs185999504
|
|
NM_001164508.2(NEB):c.19728T>A (p.Asp6576Glu)
|
|
|
NM_001164508.2(NEB):c.19729G>A (p.Asp6577Asn)
|
rs2095448833
|
|
NM_001164508.2(NEB):c.19731+10C>T
|
rs766652014
|
|
NM_001164508.2(NEB):c.19731+15T>A
|
|
|
NM_001164508.2(NEB):c.19731T>C (p.Asp6577=)
|
|
|
NM_001164508.2(NEB):c.19732-15T>C
|
|
|
NM_001164508.2(NEB):c.19732-15del
|
|
|
NM_001164508.2(NEB):c.19732-5G>C
|
rs779841022
|
|
NM_001164508.2(NEB):c.19736A>G (p.Lys6579Arg)
|
|
|
NM_001164508.2(NEB):c.19739A>G (p.Tyr6580Cys)
|
rs2095414762
|
|
NM_001164508.2(NEB):c.19740T>C (p.Tyr6580=)
|
|
|
NM_001164508.2(NEB):c.19751T>C (p.Met6584Thr)
|
rs190605644
|
|
NM_001164508.2(NEB):c.19751_19752delinsGA (p.Met6584Arg)
|
rs2153654002
|
|
NM_001164508.2(NEB):c.19756A>G (p.Lys6586Glu)
|
rs2153653983
|
|
NM_001164508.2(NEB):c.19763G>A (p.Arg6588Lys)
|
|
|
NM_001164508.2(NEB):c.19773C>T (p.Tyr6591=)
|
|
|
NM_001164508.2(NEB):c.19776G>A (p.Lys6592=)
|
|
|
NM_001164508.2(NEB):c.19779T>C (p.Leu6593=)
|
|
|
NM_001164508.2(NEB):c.19782C>T (p.Val6594=)
|
rs1475066401
|
|
NM_001164508.2(NEB):c.19785A>T (p.Thr6595=)
|
rs1248765978
|
|
NM_001164508.2(NEB):c.19794A>C (p.Pro6598=)
|
rs2153653816
|
|
NM_001164508.2(NEB):c.19799A>T (p.Tyr6600Phe)
|
rs2095412773
|
|
NM_001164508.2(NEB):c.19800C>G (p.Tyr6600Ter)
|
rs552379239
|
|
NM_001164508.2(NEB):c.1980G>A (p.Gln660=)
|
rs2149170729
|
|
NM_001164508.2(NEB):c.19812C>T (p.Val6604=)
|
rs2095412277
|
|
NM_001164508.2(NEB):c.19813A>T (p.Lys6605Ter)
|
|
|
NM_001164508.2(NEB):c.19814A>G (p.Lys6605Arg)
|
rs2095412206
|
|
NM_001164508.2(NEB):c.19821G>A (p.Gly6607=)
|
rs2095412128
|
|
NM_001164508.2(NEB):c.19826A>T (p.Gln6609Leu)
|
rs1553730155
|
|
NM_001164508.2(NEB):c.19836+17G>A
|
|
|
NM_001164508.2(NEB):c.19836+1G>T
|
rs1446930968
|
|
NM_001164508.2(NEB):c.19836+1del
|
|
|
NM_001164508.2(NEB):c.19836+6T>C
|
rs2153653644
|
|
NM_001164508.2(NEB):c.19836+7G>A
|
|
|
NM_001164508.2(NEB):c.19837-15T>C
|
|
|
NM_001164508.2(NEB):c.19837-19A>G
|
|
|
NM_001164508.2(NEB):c.19837-20A>C
|
|
|
NM_001164508.2(NEB):c.19837-6C>T
|
|
|
NM_001164508.2(NEB):c.19837-9C>T
|
|
|
NM_001164508.2(NEB):c.1983G>A (p.Leu661=)
|
rs2099557939
|
|
NM_001164508.2(NEB):c.19840G>C (p.Val6614Leu)
|
|
|
NM_001164508.2(NEB):c.19842C>G (p.Val6614=)
|
rs2153648091
|
|
NM_001164508.2(NEB):c.19843_19853del (p.Tyr6615fs)
|
|
|
NM_001164508.2(NEB):c.19848C>T (p.His6616=)
|
rs910831381
|
|
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter)
|
rs2095359371
|
|
NM_001164508.2(NEB):c.19857T>C (p.Tyr6619=)
|
rs2153648002
|
|
NM_001164508.2(NEB):c.19866T>C (p.Ser6622=)
|
rs766226656
|
|
NM_001164508.2(NEB):c.19868T>G (p.Val6623Gly)
|
|
|
NM_001164508.2(NEB):c.19869C>G (p.Val6623=)
|
|
|
NM_001164508.2(NEB):c.1986G>A (p.Lys662=)
|
|
|
NM_001164508.2(NEB):c.19879_19880insCCCCATGC (p.Val6627fs)
|
|
|
NM_001164508.2(NEB):c.19893C>G (p.Thr6631=)
|
rs1477499693
|
|
NM_001164508.2(NEB):c.19897del (p.Thr6633fs)
|
rs2153647734
|
|
NM_001164508.2(NEB):c.198G>A (p.Val66=)
|
|
|
NM_001164508.2(NEB):c.198G>C (p.Val66=)
|
rs2150921386
|
|
NM_001164508.2(NEB):c.19900G>A (p.Val6634Met)
|
|
|
NM_001164508.2(NEB):c.19903G>T (p.Asp6635Tyr)
|
rs534519331
|
|
NM_001164508.2(NEB):c.19904_19914del (p.Asp6635fs)
|
|
|
NM_001164508.2(NEB):c.19912C>A (p.Arg6638=)
|
|
|
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp)
|
rs771483221
|
|
NM_001164508.2(NEB):c.19915G>A (p.Ala6639Thr)
|
rs2095356884
|
|
NM_001164508.2(NEB):c.19915del (p.Ala6639fs)
|
rs2153647595
|
|
NM_001164508.2(NEB):c.19916C>A (p.Ala6639Asp)
|
rs2153647567
|
|
NM_001164508.2(NEB):c.19918C>T (p.Leu6640Phe)
|
rs2095356788
|
|
NM_001164508.2(NEB):c.19919T>C (p.Leu6640Pro)
|
|
|
NM_001164508.2(NEB):c.19919T>G (p.Leu6640Arg)
|
rs886054932
|
|
NM_001164508.2(NEB):c.19923T>C (p.His6641=)
|
|
|
NM_001164508.2(NEB):c.19923T>G (p.His6641Gln)
|
rs773870323
|
|
NM_001164508.2(NEB):c.19925C>T (p.Ala6642Val)
|
|
|
NM_001164508.2(NEB):c.19926A>C (p.Ala6642=)
|
|
|
NM_001164508.2(NEB):c.19929C>G (p.Tyr6643Ter)
|
rs1440532058
|
|
NM_001164508.2(NEB):c.19929C>T (p.Tyr6643=)
|
|
|
NM_001164508.2(NEB):c.19934T>G (p.Leu6645Arg)
|
|
|
NM_001164508.2(NEB):c.19935C>T (p.Leu6645=)
|
rs2153647443
|
|
NM_001164508.2(NEB):c.19936C>T (p.Gln6646Ter)
|
|
|
NM_001164508.2(NEB):c.19938G>A (p.Gln6646=)
|
rs748541129
|
|
NM_001164508.2(NEB):c.19943C>T (p.Ser6648Leu)
|
|
|
NM_001164508.2(NEB):c.19944+17T>A
|
|
|
NM_001164508.2(NEB):c.19944+18G>A
|
|
|
NM_001164508.2(NEB):c.19944+6_19944+12del
|
rs2153647219
|
|
NM_001164508.2(NEB):c.19945-10A>G
|
rs2153633331
|
|
NM_001164508.2(NEB):c.19945-10A>T
|
|
|
NM_001164508.2(NEB):c.19945-18T>C
|
|
|
NM_001164508.2(NEB):c.19945-2A>C
|
rs113473971
|
|
NM_001164508.2(NEB):c.19945-3C>G
|
rs1206840358
|
|
NM_001164508.2(NEB):c.19945-6C>T
|
|
|
NM_001164508.2(NEB):c.19945-9T>A
|
|
|
NM_001164508.2(NEB):c.1994G>T (p.Ser665Ile)
|
|
|
NM_001164508.2(NEB):c.19950A>C (p.Leu6650=)
|
rs2153633228
|
|
NM_001164508.2(NEB):c.19959del (p.Ser6654fs)
|
|
|
NM_001164508.2(NEB):c.19962C>T (p.Ser6654=)
|
rs2153633182
|
|
NM_001164508.2(NEB):c.19968C>T (p.Arg6656=)
|
|
|
NM_001164508.2(NEB):c.19971C>T (p.Thr6657=)
|
|
|
NM_001164508.2(NEB):c.19976C>G (p.Pro6659Arg)
|
rs2153633083
|
|
NM_001164508.2(NEB):c.19977C>T (p.Pro6659=)
|
rs2153633071
|
|
NM_001164508.2(NEB):c.1998+10G>C
|
|
|
NM_001164508.2(NEB):c.1998+14C>T
|
|
|
NM_001164508.2(NEB):c.1998+18T>C
|
|
|
NM_001164508.2(NEB):c.1998+7A>G
|
rs2149169724
|
|
NM_001164508.2(NEB):c.19981G>C (p.Gly6661Arg)
|
|
|
NM_001164508.2(NEB):c.19981G>T (p.Gly6661Ter)
|
|
|
NM_001164508.2(NEB):c.19983A>C (p.Gly6661=)
|
|
|
NM_001164508.2(NEB):c.19983dup (p.Tyr6662fs)
|
|
|
NM_001164508.2(NEB):c.19986T>C (p.Tyr6662=)
|
|
|
NM_001164508.2(NEB):c.19988del (p.Arg6663fs)
|
|
|
NM_001164508.2(NEB):c.1999-17T>C
|
|
|
NM_001164508.2(NEB):c.20003C>G (p.Thr6668Ser)
|
rs2153632972
|
|
NM_001164508.2(NEB):c.20004T>G (p.Thr6668=)
|
rs2153632963
|
|
NM_001164508.2(NEB):c.20013C>T (p.Phe6671=)
|
rs2095138509
|
|
NM_001164508.2(NEB):c.20018A>C (p.His6673Pro)
|
rs763237724
|
|
NM_001164508.2(NEB):c.2001T>G (p.Ala667=)
|
|
|
NM_001164508.2(NEB):c.20021_20023del (p.Ile6674del)
|
rs1577105410
|
|
NM_001164508.2(NEB):c.20034T>C (p.Arg6678=)
|
|
|
NM_001164508.2(NEB):c.20037C>T (p.Tyr6679=)
|
|
|
NM_001164508.2(NEB):c.20038A>G (p.Met6680Val)
|
rs1265237421
|
|
NM_001164508.2(NEB):c.20044A>G (p.Ser6682Gly)
|
|
|
NM_001164508.2(NEB):c.20046T>C (p.Ser6682=)
|
|
|
NM_001164508.2(NEB):c.20049+10C>G
|
rs2153632695
|
|
NM_001164508.2(NEB):c.20049+12C>T
|
|
|
NM_001164508.2(NEB):c.20049+13C>T
|
|
|
NM_001164508.2(NEB):c.20049+15C>A
|
|
|
NM_001164508.2(NEB):c.20049+15C>T
|
rs747465260
|
|
NM_001164508.2(NEB):c.20049+20T>C
|
|
|
NM_001164508.2(NEB):c.20049+2T>A
|
|
|
NM_001164508.2(NEB):c.20049+7G>A
|
rs2153632752
|
|
NM_001164508.2(NEB):c.20049+9T>C
|
rs2153632713
|
|
NM_001164508.2(NEB):c.2004A>G (p.Arg668=)
|
|
|
NM_001164508.2(NEB):c.20050-11T>C
|
|
|
NM_001164508.2(NEB):c.20050-20T>C
|
|
|
NM_001164508.2(NEB):c.20050-3C>T
|
|
|
NM_001164508.2(NEB):c.20050-5T>G
|
|
|
NM_001164508.2(NEB):c.20056T>C (p.Tyr6686His)
|
rs2153624429
|
|
NM_001164508.2(NEB):c.20059A>T (p.Lys6687Ter)
|
|
|
NM_001164508.2(NEB):c.20079C>A (p.Thr6693=)
|
|
|
NM_001164508.2(NEB):c.20082G>A (p.Lys6694=)
|
|
|
NM_001164508.2(NEB):c.20083G>C (p.Ala6695Pro)
|
|
|
NM_001164508.2(NEB):c.20085A>G (p.Ala6695=)
|
|
|
NM_001164508.2(NEB):c.20087A>G (p.Tyr6696Cys)
|
|
|
NM_001164508.2(NEB):c.20088T>C (p.Tyr6696=)
|
rs2153624203
|
|
NM_001164508.2(NEB):c.20104C>T (p.Pro6702Ser)
|
|
|
NM_001164508.2(NEB):c.20106C>T (p.Pro6702=)
|
rs1553717815
|
|
NM_001164508.2(NEB):c.20108A>G (p.Lys6703Arg)
|
|
|
NM_001164508.2(NEB):c.20118A>G (p.Pro6706=)
|
|
|
NM_001164508.2(NEB):c.2011G>C (p.Asp671His)
|
|
|
NM_001164508.2(NEB):c.20122G>A (p.Val6708Ile)
|
|
|
NM_001164508.2(NEB):c.20124C>T (p.Val6708=)
|
|
|
NM_001164508.2(NEB):c.20133G>C (p.Arg6711=)
|
|
|
NM_001164508.2(NEB):c.20137G>C (p.Val6713Leu)
|
|
|
NM_001164508.2(NEB):c.20139C>T (p.Val6713=)
|
|
|
NM_001164508.2(NEB):c.2013C>G (p.Asp671Glu)
|
|
|
NM_001164508.2(NEB):c.2013C>T (p.Asp671=)
|
|
|
NM_001164508.2(NEB):c.20145T>C (p.Asn6715=)
|
|
|
NM_001164508.2(NEB):c.20157+10T>A
|
rs1577064555
|
|
NM_001164508.2(NEB):c.20157+1G>A
|
|
|
NM_001164508.2(NEB):c.20157+20C>T
|
|
|
NM_001164508.2(NEB):c.20157+2T>A
|
rs1553717306
|
|
NM_001164508.2(NEB):c.20157+2T>C
|
rs1553717306
|
|
NM_001164508.2(NEB):c.20157+7G>A
|
|
|
NM_001164508.2(NEB):c.20157+8A>C
|
rs2153623453
|
|
NM_001164508.2(NEB):c.20158-18A>T
|
|
|
NM_001164508.2(NEB):c.20158-19_20158-17del
|
|
|
NM_001164508.2(NEB):c.20158-1G>C
|
rs1553715579
|
|
NM_001164508.2(NEB):c.20158-4G>A
|
rs568113302
|
|
NM_001164508.2(NEB):c.20158-6A>G
|
rs1553715636
|
|
NM_001164508.2(NEB):c.20163_20164del (p.Tyr6722fs)
|
|
|
NM_001164508.2(NEB):c.20165A>T (p.Tyr6722Phe)
|
rs2153618365
|
|
NM_001164508.2(NEB):c.20166T>C (p.Tyr6722=)
|
|
|
NM_001164508.2(NEB):c.20167C>T (p.Arg6723Trp)
|
|
|
NM_001164508.2(NEB):c.20168G>A (p.Arg6723Gln)
|
|
|
NM_001164508.2(NEB):c.20169G>C (p.Arg6723=)
|
rs959967237
|
|
NM_001164508.2(NEB):c.20175G>C (p.Leu6725Phe)
|
|
|
NM_001164508.2(NEB):c.2017T>C (p.Tyr673His)
|
|
|
NM_001164508.2(NEB):c.20191G>T (p.Asp6731Tyr)
|
|
|
NM_001164508.2(NEB):c.20193C>T (p.Asp6731=)
|
rs2153618208
|
|
NM_001164508.2(NEB):c.20195A>G (p.Lys6732Arg)
|
|
|
NM_001164508.2(NEB):c.20199C>T (p.Ile6733=)
|
rs1322022679
|
|
NM_001164508.2(NEB):c.20202T>C (p.His6734=)
|
|
|
NM_001164508.2(NEB):c.20205A>C (p.Thr6735=)
|
|
|
NM_001164508.2(NEB):c.20205A>G (p.Thr6735=)
|
rs2153618102
|
|
NM_001164508.2(NEB):c.20208T>C (p.Thr6736=)
|
|
|
NM_001164508.2(NEB):c.20211C>G (p.Pro6737=)
|
rs771038288
|
|
NM_001164508.2(NEB):c.20213dup (p.Asp6738fs)
|
|
|
NM_001164508.2(NEB):c.20214T>C (p.Asp6738=)
|
rs777778977
|
|
NM_001164508.2(NEB):c.20216C>T (p.Thr6739Ile)
|
|
|
NM_001164508.2(NEB):c.20217C>T (p.Thr6739=)
|
rs2153617890
|
|
NM_001164508.2(NEB):c.20220T>A (p.Pro6740=)
|
|
|
NM_001164508.2(NEB):c.20220T>C (p.Pro6740=)
|
|
|
NM_001164508.2(NEB):c.20225_20226del (p.Ile6742fs)
|
rs2153617810
|
|
NM_001164508.2(NEB):c.2022A>G (p.Val674=)
|
rs2149165360
|
|
NM_001164508.2(NEB):c.20238G>A (p.Lys6746=)
|
rs2153617736
|
|
NM_001164508.2(NEB):c.2023A>G (p.Lys675Glu)
|
rs767593840
|
|
NM_001164508.2(NEB):c.20241G>T (p.Lys6747Asn)
|
rs2153617719
|
|
NM_001164508.2(NEB):c.20244A>G (p.Thr6748=)
|
rs2153617704
|
|
NM_001164508.2(NEB):c.2024A>C (p.Lys675Thr)
|
|
|
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
|
|
|
NM_001164508.2(NEB):c.20255T>G (p.Val6752Gly)
|
|
|
NM_001164508.2(NEB):c.20256C>T (p.Val6752=)
|
|
|
NM_001164508.2(NEB):c.20262+14T>C
|
|
|
NM_001164508.2(NEB):c.20262+18A>G
|
|
|
NM_001164508.2(NEB):c.20262+2T>C
|
|
|
NM_001164508.2(NEB):c.20262+2T>G
|
rs2153617573
|
|
NM_001164508.2(NEB):c.20262+8T>C
|
|
|
NM_001164508.2(NEB):c.20262+9T>C
|
|
|
NM_001164508.2(NEB):c.20263-12T>G
|
|
|
NM_001164508.2(NEB):c.20263-15T>C
|
|
|
NM_001164508.2(NEB):c.20263-16A>G
|
|
|
NM_001164508.2(NEB):c.20263-17T>A
|
|
|
NM_001164508.2(NEB):c.20263-7del
|
rs763008896
|
|
NM_001164508.2(NEB):c.20263-7dup
|
rs763008896
|
|
NM_001164508.2(NEB):c.20267T>C (p.Ile6756Thr)
|
|
|
NM_001164508.2(NEB):c.20269T>C (p.Tyr6757His)
|
|
|
NM_001164508.2(NEB):c.20280C>T (p.Asp6760=)
|
rs761933895
|
|
NM_001164508.2(NEB):c.20281_20282dup (p.Phe6762fs)
|
rs2094863263
|
|
NM_001164508.2(NEB):c.20286C>T (p.Phe6762=)
|
|
|
NM_001164508.2(NEB):c.20295G>A (p.Gln6765=)
|
|
|
NM_001164508.2(NEB):c.20298C>T (p.Gly6766=)
|
|
|
NM_001164508.2(NEB):c.20302A>G (p.Met6768Val)
|
rs780579848
|
|
NM_001164508.2(NEB):c.20302A>T (p.Met6768Leu)
|
|
|
NM_001164508.2(NEB):c.20308T>C (p.Ser6770Pro)
|
|
|
NM_001164508.2(NEB):c.20311_20312del (p.Leu6771fs)
|
|
|
NM_001164508.2(NEB):c.20315C>T (p.Pro6772Leu)
|
rs1559782362
|
|
NM_001164508.2(NEB):c.20316A>G (p.Pro6772=)
|
rs772552779
|
|
NM_001164508.2(NEB):c.20316A>T (p.Pro6772=)
|
rs772552779
|
|
NM_001164508.2(NEB):c.20319C>T (p.Tyr6773=)
|
rs2153615963
|
|
NM_001164508.2(NEB):c.20322A>T (p.Thr6774=)
|
|
|
NM_001164508.2(NEB):c.20323C>T (p.Pro6775Ser)
|
|
|
NM_001164508.2(NEB):c.20326del (p.Gln6776fs)
|
rs2153615926
|
|
NM_001164508.2(NEB):c.20327A>G (p.Gln6776Arg)
|
rs1377556613
|
|
NM_001164508.2(NEB):c.20341C>T (p.Arg6781Cys)
|
|
|
NM_001164508.2(NEB):c.20343C>T (p.Arg6781=)
|
rs1455500980
|
|
NM_001164508.2(NEB):c.20349G>A (p.Val6783=)
|
|
|
NM_001164508.2(NEB):c.20349G>T (p.Val6783=)
|
|
|
NM_001164508.2(NEB):c.20351G>C (p.Gly6784Ala)
|
|
|
NM_001164508.2(NEB):c.20352A>G (p.Gly6784=)
|
rs1166197657
|
|
NM_001164508.2(NEB):c.20359A>G (p.Thr6787Ala)
|
rs1028441065
|
|
NM_001164508.2(NEB):c.20360_20361insA (p.Ser6788fs)
|
rs2153615795
|
|
NM_001164508.2(NEB):c.20364T>C (p.Ser6788=)
|
rs2153615783
|
|
NM_001164508.2(NEB):c.20364_20365del (p.Ser6788fs)
|
|
|
NM_001164508.2(NEB):c.20365G>A (p.Asp6789Asn)
|
|
|
NM_001164508.2(NEB):c.20367+11C>T
|
|
|
NM_001164508.2(NEB):c.20367+12G>A
|
|
|
NM_001164508.2(NEB):c.20367+12G>T
|
|
|
NM_001164508.2(NEB):c.20367+13T>G
|
|
|
NM_001164508.2(NEB):c.20367+18G>A
|
|
|
NM_001164508.2(NEB):c.20367+19T>A
|
|
|
NM_001164508.2(NEB):c.20367+3A>G
|
|
|
NM_001164508.2(NEB):c.20367+7A>G
|
rs1245262853
|
|
NM_001164508.2(NEB):c.20367+7A>T
|
rs1245262853
|
|
NM_001164508.2(NEB):c.20368-17C>T
|
|
|
NM_001164508.2(NEB):c.20368-18T>G
|
|
|
NM_001164508.2(NEB):c.20368-19T>G
|
|
|
NM_001164508.2(NEB):c.20368-20T>A
|
|
|
NM_001164508.2(NEB):c.20368-7C>G
|
rs2153608192
|
|
NM_001164508.2(NEB):c.20368-9G>A
|
rs2094696492
|
|
NM_001164508.2(NEB):c.20369T>A (p.Ile6790Asn)
|
|
|
NM_001164508.2(NEB):c.2037A>C (p.Gly679=)
|
|
|
NM_001164508.2(NEB):c.20384A>G (p.Asp6795Gly)
|
|
|
NM_001164508.2(NEB):c.20385C>G (p.Asp6795Glu)
|
rs2153608107
|
|
NM_001164508.2(NEB):c.20385C>T (p.Asp6795=)
|
rs2153608107
|
|
NM_001164508.2(NEB):c.20386T>C (p.Leu6796=)
|
|
|
NM_001164508.2(NEB):c.2038C>A (p.His680Asn)
|
rs773702715
|
|
NM_001164508.2(NEB):c.20390_20412del (p.Gln6797fs)
|
rs1553710982
|
|
NM_001164508.2(NEB):c.20394C>T (p.Val6798=)
|
|
|
NM_001164508.2(NEB):c.20395C>T (p.Leu6799=)
|
|
|
NM_001164508.2(NEB):c.20397G>T (p.Leu6799=)
|
rs750316684
|
|
NM_001164508.2(NEB):c.20401G>A (p.Gly6801Arg)
|
|
|
NM_001164508.2(NEB):c.20401G>T (p.Gly6801Ter)
|
rs1405498595
|
|
NM_001164508.2(NEB):c.20407G>A (p.Gly6803Ser)
|
|
|
NM_001164508.2(NEB):c.20417T>A (p.Leu6806Gln)
|
|
|
NM_001164508.2(NEB):c.20424C>T (p.Asp6808=)
|
|
|
NM_001164508.2(NEB):c.20425A>G (p.Thr6809Ala)
|
|
|
NM_001164508.2(NEB):c.20437G>T (p.Val6813Phe)
|
|
|
NM_001164508.2(NEB):c.20439C>G (p.Val6813=)
|
rs2094691380
|
|
NM_001164508.2(NEB):c.20441_20442del (p.Arg6814fs)
|
|
|
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup)
|
rs760783104
|
|
NM_001164508.2(NEB):c.20446C>G (p.Arg6816Gly)
|
rs780644697
|
|
NM_001164508.2(NEB):c.20446C>T (p.Arg6816Trp)
|
rs780644697
|
|
NM_001164508.2(NEB):c.20446_20447del (p.Arg6816fs)
|
|
|
NM_001164508.2(NEB):c.20446dup (p.Arg6816fs)
|
rs1559767662
|
|
NM_001164508.2(NEB):c.20447G>A (p.Arg6816Gln)
|
|
|
NM_001164508.2(NEB):c.20455C>T (p.Arg6819Trp)
|
|
|
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
|
|
|
NM_001164508.2(NEB):c.20465G>C (p.Trp6822Ser)
|
rs2153607705
|
|
NM_001164508.2(NEB):c.20466+12T>C
|
|
|
NM_001164508.2(NEB):c.20466+13C>T
|
|
|
NM_001164508.2(NEB):c.20466+2T>A
|
|
|
NM_001164508.2(NEB):c.20466+5G>C
|
rs2094687409
|
|
NM_001164508.2(NEB):c.20466+8C>G
|
rs757210732
|
|
NM_001164508.2(NEB):c.20466+9A>C
|
|
|
NM_001164508.2(NEB):c.20466+9A>G
|
rs767636080
|
|
NM_001164508.2(NEB):c.20467-10_20467-9insTC
|
|
|
NM_001164508.2(NEB):c.20467-14T>G
|
|
|
NM_001164508.2(NEB):c.20467-14_20467-13insTG
|
rs769300777
|
|
NM_001164508.2(NEB):c.20467-15T>G
|
|
|
NM_001164508.2(NEB):c.20467-15_20467-14insG
|
|
|
NM_001164508.2(NEB):c.20467-15_20467-14insTG
|
|
|
NM_001164508.2(NEB):c.20467-16_20467-15insG
|
rs1553709365
|
|
NM_001164508.2(NEB):c.20467-16_20467-15insTG
|
|
|
NM_001164508.2(NEB):c.20467-17_20467-16insTG
|
|
|
NM_001164508.2(NEB):c.20467-18T>C
|
|
|
NM_001164508.2(NEB):c.20467-18T>G
|
|
|
NM_001164508.2(NEB):c.20467-18_20467-17insG
|
|
|
NM_001164508.2(NEB):c.20467-18_20467-17insTG
|
|
|
NM_001164508.2(NEB):c.20467-1G>T
|
rs760082702
|
|
NM_001164508.2(NEB):c.20467-20_20467-19insG
|
|
|
NM_001164508.2(NEB):c.20467-2A>C
|
rs1392500142
|
|
NM_001164508.2(NEB):c.20467-2dup
|
rs765107380
|
|
NM_001164508.2(NEB):c.20467-3A>G
|
rs1463738651
|
|
NM_001164508.2(NEB):c.20467-4_20467-3insTA
|
rs1553708977
|
|
NM_001164508.2(NEB):c.20467-4dup
|
rs10687343
|
|
NM_001164508.2(NEB):c.20467-6T>G
|
|
|
NM_001164508.2(NEB):c.20467-9_20467-8insC
|
rs1208273105
|
|
NM_001164508.2(NEB):c.20469T>C (p.Ser6823=)
|
rs2153604226
|
|
NM_001164508.2(NEB):c.2048G>A (p.Gly683Asp)
|
|
|
NM_001164508.2(NEB):c.2049C>A (p.Gly683=)
|
rs372609682
|
|
NM_001164508.2(NEB):c.204G>A (p.Arg68=)
|
|
|
NM_001164508.2(NEB):c.20503C>A (p.Arg6835=)
|
rs370098540
|
|
NM_001164508.2(NEB):c.20514C>A (p.Tyr6838Ter)
|
rs1242775893
|
|
NM_001164508.2(NEB):c.20529C>T (p.Asp6843=)
|
|
|
NM_001164508.2(NEB):c.20532T>A (p.Thr6844=)
|
|
|
NM_001164508.2(NEB):c.20533C>A (p.Pro6845Thr)
|
|
|
NM_001164508.2(NEB):c.20536G>T (p.Glu6846Ter)
|
|
|
NM_001164508.2(NEB):c.20538A>G (p.Glu6846=)
|
rs1576976368
|
|
NM_001164508.2(NEB):c.20550G>C (p.Val6850=)
|
rs1454797066
|
|
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)
|
rs777819332
|
|
NM_001164508.2(NEB):c.20568T>C (p.His6856=)
|
rs780118739
|
|
NM_001164508.2(NEB):c.2056G>A (p.Glu686Lys)
|
|
|
NM_001164508.2(NEB):c.20571G>C (p.Leu6857=)
|
rs2153603779
|
|
NM_001164508.2(NEB):c.20577+7A>G
|
|
|
NM_001164508.2(NEB):c.20577+8C>G
|
rs762136090
|
|
NM_001164508.2(NEB):c.20578-13G>C
|
|
|
NM_001164508.2(NEB):c.20578-15T>C
|
|
|
NM_001164508.2(NEB):c.20578-18A>G
|
|
|
NM_001164508.2(NEB):c.20578-19T>C
|
|
|
NM_001164508.2(NEB):c.20578-20A>G
|
rs2153575431
|
|
NM_001164508.2(NEB):c.20578-2A>G
|
|
|
NM_001164508.2(NEB):c.20578-4C>G
|
rs1658782605
|
|
NM_001164508.2(NEB):c.20578-6G>A
|
rs376710012
|
|
NM_001164508.2(NEB):c.20578-8del
|
rs1304911332
|
|
NM_001164508.2(NEB):c.20583C>T (p.Val6861=)
|
rs939258740
|
|
NM_001164508.2(NEB):c.20591C>T (p.Ala6864Val)
|
|
|
NM_001164508.2(NEB):c.20592T>C (p.Ala6864=)
|
rs754233089
|
|
NM_001164508.2(NEB):c.20592T>G (p.Ala6864=)
|
|
|
NM_001164508.2(NEB):c.20606A>T (p.Gln6869Leu)
|
|
|
NM_001164508.2(NEB):c.2061C>T (p.Asp687=)
|
rs2149163767
|
|
NM_001164508.2(NEB):c.20626G>A (p.Val6876Ile)
|
|
|
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala)
|
rs750276279
|
|
NM_001164508.2(NEB):c.2062C>T (p.Pro688Ser)
|
rs750276279
|
|
NM_001164508.2(NEB):c.20633del (p.Asp6878fs)
|
rs2094062438
|
|
NM_001164508.2(NEB):c.20639C>A (p.Pro6880His)
|
|
|
NM_001164508.2(NEB):c.20644_20645dup (p.Leu6883fs)
|
rs2153574857
|
|
NM_001164508.2(NEB):c.20650A>G (p.Arg6884Gly)
|
|
|
NM_001164508.2(NEB):c.20650_20651insCCTCT (p.Arg6884fs)
|
|
|
NM_001164508.2(NEB):c.20652A>G (p.Arg6884=)
|
|
|
NM_001164508.2(NEB):c.20653G>T (p.Ala6885Ser)
|
rs1201503713
|
|
NM_001164508.2(NEB):c.20659C>A (p.Arg6887=)
|
rs749452641
|
|
NM_001164508.2(NEB):c.2065dup (p.Tyr689fs)
|
rs1576517390
|
|
NM_001164508.2(NEB):c.20660G>A (p.Arg6887Gln)
|
|
|
NM_001164508.2(NEB):c.20670G>C (p.Lys6890Asn)
|
rs768041857
|
|
NM_001164508.2(NEB):c.20674_20675del (p.Gln6892fs)
|
rs2153574675
|
|
NM_001164508.2(NEB):c.2067T>A (p.Tyr689Ter)
|
|
|
NM_001164508.2(NEB):c.20682+12G>A
|
|
|
NM_001164508.2(NEB):c.20682+16C>T
|
|
|
NM_001164508.2(NEB):c.20682+1G>A
|
rs1576819152
|
|
NM_001164508.2(NEB):c.20682+8C>T
|
rs2153574573
|
|
NM_001164508.2(NEB):c.20682+9A>C
|
rs1576818801
|
|
NM_001164508.2(NEB):c.20683-10T>C
|
rs2153570157
|
|
NM_001164508.2(NEB):c.20683-12T>C
|
|
|
NM_001164508.2(NEB):c.20683-16T>G
|
|
|
NM_001164508.2(NEB):c.20683-17T>G
|
|
|
NM_001164508.2(NEB):c.20683-18C>T
|
|
|
NM_001164508.2(NEB):c.20683-4T>C
|
rs2153570062
|
|
NM_001164508.2(NEB):c.20683-6A>G
|
|
|
NM_001164508.2(NEB):c.20683-6A>T
|
|
|
NM_001164508.2(NEB):c.20683-9ATT[3]
|
rs2093936618
|
|
NM_001164508.2(NEB):c.20685T>A (p.Tyr6895Ter)
|
|
|
NM_001164508.2(NEB):c.20688G>C (p.Leu6896=)
|
rs775161722
|
|
NM_001164508.2(NEB):c.20691T>A (p.Tyr6897Ter)
|
|
|
NM_001164508.2(NEB):c.20692G>A (p.Val6898Ile)
|
|
|
NM_001164508.2(NEB):c.20697A>G (p.Glu6899=)
|
rs2153570012
|
|
NM_001164508.2(NEB):c.206G>A (p.Arg69Lys)
|
|
|
NM_001164508.2(NEB):c.2070C>T (p.His690=)
|
|
|
NM_001164508.2(NEB):c.20711A>G (p.Glu6904Gly)
|
rs886054930
|
|
NM_001164508.2(NEB):c.20718C>A (p.Pro6906=)
|
rs1576796071
|
|
NM_001164508.2(NEB):c.20718C>T (p.Pro6906=)
|
|
|
NM_001164508.2(NEB):c.20719C>T (p.His6907Tyr)
|
|
|
NM_001164508.2(NEB):c.20719del (p.His6907fs)
|
|
|
NM_001164508.2(NEB):c.20721T>A (p.His6907Gln)
|
rs2093933909
|
|
NM_001164508.2(NEB):c.20721TCA[1] (p.His6909del)
|
rs1553696713
|
|
NM_001164508.2(NEB):c.20725C>T (p.His6909Tyr)
|
|
|
NM_001164508.2(NEB):c.20728G>T (p.Ala6910Ser)
|
|
|
NM_001164508.2(NEB):c.2073A>G (p.Thr691=)
|
|
|
NM_001164508.2(NEB):c.20742C>A (p.Thr6914=)
|
|
|
NM_001164508.2(NEB):c.20742C>G (p.Thr6914=)
|
|
|
NM_001164508.2(NEB):c.20752A>C (p.Lys6918Gln)
|
|
|
NM_001164508.2(NEB):c.20754G>A (p.Lys6918=)
|
rs2153569748
|
|
NM_001164508.2(NEB):c.20755C>T (p.His6919Tyr)
|
rs2093931355
|
|
NM_001164508.2(NEB):c.20757T>C (p.His6919=)
|
rs2153569714
|
|
NM_001164508.2(NEB):c.2075_2076del (p.His692fs)
|
rs2149163148
|
|
NM_001164508.2(NEB):c.20763A>G (p.Lys6921=)
|
rs2093930988
|
|
NM_001164508.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn)
|
rs1553696371
|
|
NM_001164508.2(NEB):c.20765A>T (p.Asp6922Val)
|
rs2093930817
|
|
NM_001164508.2(NEB):c.20769G>A (p.Val6923=)
|
rs938023399
|
|
NM_001164508.2(NEB):c.20769G>C (p.Val6923=)
|
|
|
NM_001164508.2(NEB):c.2076C>T (p.His692=)
|
|
|
NM_001164508.2(NEB):c.20776A>G (p.Met6926Val)
|
rs1559707924
|
|
NM_001164508.2(NEB):c.20787+10G>A
|
|
|
NM_001164508.2(NEB):c.20787+17G>C
|
|
|
NM_001164508.2(NEB):c.20787+20C>A
|
|
|
NM_001164508.2(NEB):c.20788-17C>A
|
|
|
NM_001164508.2(NEB):c.20788-1G>A
|
rs1553695557
|
|
NM_001164508.2(NEB):c.20788-20C>T
|
|
|
NM_001164508.2(NEB):c.20788-5C>T
|
|
|
NM_001164508.2(NEB):c.20791A>T (p.Lys6931Ter)
|
|
|
NM_001164508.2(NEB):c.20792dup (p.Tyr6932fs)
|
|
|
NM_001164508.2(NEB):c.20793G>A (p.Lys6931=)
|
|
|
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
|
|
|
NM_001164508.2(NEB):c.20802T>C (p.Ile6934=)
|
|
|
NM_001164508.2(NEB):c.20805A>G (p.Gln6935=)
|
|
|
NM_001164508.2(NEB):c.20808T>A (p.Tyr6936Ter)
|
rs753417634
|
|
NM_001164508.2(NEB):c.20808T>C (p.Tyr6936=)
|
rs753417634
|
|
NM_001164508.2(NEB):c.2080A>C (p.Met694Leu)
|
|
|
NM_001164508.2(NEB):c.2080A>G (p.Met694Val)
|
|
|
NM_001164508.2(NEB):c.20811A>G (p.Glu6937=)
|
|
|
NM_001164508.2(NEB):c.20813del (p.Lys6938fs)
|
|
|
NM_001164508.2(NEB):c.20822A>G (p.Asp6941Gly)
|
|
|
NM_001164508.2(NEB):c.20827T>C (p.Tyr6943His)
|
|
|
NM_001164508.2(NEB):c.20832T>C (p.Thr6944=)
|
|
|
NM_001164508.2(NEB):c.20845dup (p.Thr6949fs)
|
rs1553695209
|
|
NM_001164508.2(NEB):c.20847G>C (p.Thr6949=)
|
rs759425229
|
|
NM_001164508.2(NEB):c.20851A>G (p.Ile6951Val)
|
rs1168345348
|
|
NM_001164508.2(NEB):c.20856C>T (p.Leu6952=)
|
rs2153567193
|
|
NM_001164508.2(NEB):c.20861G>A (p.Arg6954Lys)
|
|
|
NM_001164508.2(NEB):c.20863G>A (p.Ala6955Thr)
|
rs2153567154
|
|
NM_001164508.2(NEB):c.20875del (p.Tyr6959fs)
|
|
|
NM_001164508.2(NEB):c.2087T>C (p.Val696Ala)
|
|
|
NM_001164508.2(NEB):c.20889dup (p.Asp6964Ter)
|
rs1553694860
|
|
NM_001164508.2(NEB):c.2088T>G (p.Val696=)
|
|
|
NM_001164508.2(NEB):c.20892+10C>A
|
rs2153566996
|
|
NM_001164508.2(NEB):c.20892+10C>T
|
rs2153566996
|
|
NM_001164508.2(NEB):c.20892+11C>T
|
|
|
NM_001164508.2(NEB):c.20892+12T>C
|
|
|
NM_001164508.2(NEB):c.20892+14C>T
|
|
|
NM_001164508.2(NEB):c.20892T>A (p.Asp6964Glu)
|
rs1553694845
|
|
NM_001164508.2(NEB):c.20892T>G (p.Asp6964Glu)
|
rs1553694845
|
|
NM_001164508.2(NEB):c.20893-10C>G
|
|
|
NM_001164508.2(NEB):c.20893-11dup
|
rs766816927
|
|
NM_001164508.2(NEB):c.20893-17G>T
|
|
|
NM_001164508.2(NEB):c.20893-19G>A
|
|
|
NM_001164508.2(NEB):c.20893-20T>C
|
|
|
NM_001164508.2(NEB):c.20893-8_20893-7del
|
|
|
NM_001164508.2(NEB):c.20894T>A (p.Leu6965Gln)
|
rs1239615497
|
|
NM_001164508.2(NEB):c.20900A>G (p.Tyr6967Cys)
|
|
|
NM_001164508.2(NEB):c.20901C>T (p.Tyr6967=)
|
rs1311480674
|
|
NM_001164508.2(NEB):c.20906A>T (p.Glu6969Val)
|
rs371680259
|
|
NM_001164508.2(NEB):c.20916A>G (p.Gln6972=)
|
|
|
NM_001164508.2(NEB):c.20918del (p.Lys6973fs)
|
|
|
NM_001164508.2(NEB):c.20928G>T (p.Gly6976=)
|
|
|
NM_001164508.2(NEB):c.20931A>G (p.Lys6977=)
|
rs2153554037
|
|
NM_001164508.2(NEB):c.20933A>G (p.Tyr6978Cys)
|
rs761780939
|
|
NM_001164508.2(NEB):c.20934C>A (p.Tyr6978Ter)
|
rs2153554020
|
|
NM_001164508.2(NEB):c.20940G>C (p.Thr6980=)
|
rs369611234
|
|
NM_001164508.2(NEB):c.2095C>T (p.Gln699Ter)
|
|
|
NM_001164508.2(NEB):c.20961T>C (p.Ile6987=)
|
rs1553689592
|
|
NM_001164508.2(NEB):c.20964C>T (p.Val6988=)
|
|
|
NM_001164508.2(NEB):c.20966A>G (p.Tyr6989Cys)
|
|
|
NM_001164508.2(NEB):c.20968C>T (p.His6990Tyr)
|
rs1383294380
|
|
NM_001164508.2(NEB):c.20973C>T (p.Arg6991=)
|
rs2153553754
|
|
NM_001164508.2(NEB):c.20974A>G (p.Lys6992Glu)
|
|
|
NM_001164508.2(NEB):c.20974A>T (p.Lys6992Ter)
|
|
|
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs)
|
rs1559680233
|
|
NM_001164508.2(NEB):c.20976del (p.Val6993fs)
|
rs1559680233
|
|
NM_001164508.2(NEB):c.20978_20985delinsG (p.Val6993fs)
|
|
|
NM_001164508.2(NEB):c.20985T>C (p.Asp6995=)
|
|
|
NM_001164508.2(NEB):c.2098A>G (p.Asn700Asp)
|
|
|
NM_001164508.2(NEB):c.20992dup (p.Ser6998fs)
|
rs2153553633
|
|
NM_001164508.2(NEB):c.20995A>T (p.Lys6999Ter)
|
rs2153553617
|
|
NM_001164508.2(NEB):c.20997+13A>G
|
|
|
NM_001164508.2(NEB):c.20997+15A>G
|
|
|
NM_001164508.2(NEB):c.20997+17T>C
|
|
|
NM_001164508.2(NEB):c.20997+18T>C
|
|
|
NM_001164508.2(NEB):c.20997+7C>A
|
rs1447554922
|
|
NM_001164508.2(NEB):c.20998-13dup
|
rs1269728736
|
|
NM_001164508.2(NEB):c.20998-16del
|
|
|
NM_001164508.2(NEB):c.20998-19T>C
|
|
|
NM_001164508.2(NEB):c.20998-7A>G
|
|
|
NM_001164508.2(NEB):c.21006C>T (p.Tyr7002=)
|
rs2153551206
|
|
NM_001164508.2(NEB):c.21010_21012del (p.Glu7004del)
|
rs770208836
|
|
NM_001164508.2(NEB):c.21021G>A (p.Met7007Ile)
|
|
|
NM_001164508.2(NEB):c.21024C>T (p.Ser7008=)
|
rs2153551145
|
|
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=)
|
rs750374820
|
|
NM_001164508.2(NEB):c.2102G>A (p.Ser701Asn)
|
|
|
NM_001164508.2(NEB):c.21033T>C (p.Gly7011=)
|
rs2153551062
|
|
NM_001164508.2(NEB):c.21037T>G (p.Trp7013Gly)
|
rs2153551039
|
|
NM_001164508.2(NEB):c.21046A>T (p.Ile7016Phe)
|
|
|
NM_001164508.2(NEB):c.21051T>G (p.Pro7017=)
|
|
|
NM_001164508.2(NEB):c.21052del (p.Asp7018fs)
|
rs1576695735
|
|
NM_001164508.2(NEB):c.21055C>T (p.Arg7019Cys)
|
|
|
NM_001164508.2(NEB):c.21057T>C (p.Arg7019=)
|
|
|
NM_001164508.2(NEB):c.21058C>A (p.Pro7020Thr)
|
|
|
NM_001164508.2(NEB):c.2106+11del
|
rs1064794944
|
|
NM_001164508.2(NEB):c.2106+14C>A
|
rs2149161572
|
|
NM_001164508.2(NEB):c.2106+3A>C
|
rs1553589058
|
|
NM_001164508.2(NEB):c.21060A>G (p.Pro7020=)
|
|
|
NM_001164508.2(NEB):c.21060A>T (p.Pro7020=)
|
|
|
NM_001164508.2(NEB):c.21066T>C (p.His7022=)
|
|
|
NM_001164508.2(NEB):c.2107-13T>G
|
|
|
NM_001164508.2(NEB):c.2107-16G>T
|
|
|
NM_001164508.2(NEB):c.2107-4A>T
|
|
|
NM_001164508.2(NEB):c.2107-5_2107-3del
|
rs1365598003
|
|
NM_001164508.2(NEB):c.21070del (p.His7024fs)
|
|
|
NM_001164508.2(NEB):c.21072C>T (p.His7024=)
|
|
|
NM_001164508.2(NEB):c.2107A>G (p.Lys703Glu)
|
|
|
NM_001164508.2(NEB):c.21090C>A (p.Asp7030Glu)
|
|
|
NM_001164508.2(NEB):c.21092_21093del (p.Thr7031fs)
|
|
|
NM_001164508.2(NEB):c.21093_21094del (p.Val7032fs)
|
rs1553688242
|
|
NM_001164508.2(NEB):c.21094G>C (p.Val7032Leu)
|
|
|
NM_001164508.2(NEB):c.21097A>C (p.Ser7033Arg)
|
|
|
NM_001164508.2(NEB):c.2109A>G (p.Lys703=)
|
rs2099554454
|
|
NM_001164508.2(NEB):c.210G>A (p.Lys70=)
|
rs2150921066
|
|
NM_001164508.2(NEB):c.21102+12C>T
|
|
|
NM_001164508.2(NEB):c.21102+13del
|
|
|
NM_001164508.2(NEB):c.21102+17_21102+19del
|
|
|
NM_001164508.2(NEB):c.21102+17del
|
|
|
NM_001164508.2(NEB):c.21102+18C>T
|
|
|
NM_001164508.2(NEB):c.21102+2_21102+3del
|
|
|
NM_001164508.2(NEB):c.21102+5G>A
|
|
|
NM_001164508.2(NEB):c.21102+7G>C
|
|
|
NM_001164508.2(NEB):c.21102+8T>C
|
rs2153550373
|
|
NM_001164508.2(NEB):c.21102T>C (p.Asp7034=)
|
rs531711771
|
|
NM_001164508.2(NEB):c.21103-10C>A
|
|
|
NM_001164508.2(NEB):c.21103-14TCT[2]
|
rs747602368
|
|
NM_001164508.2(NEB):c.21103-17T>C
|
|
|
NM_001164508.2(NEB):c.21103-1G>C
|
|
|
NM_001164508.2(NEB):c.21103-20T>C
|
|
|
NM_001164508.2(NEB):c.21108del (p.Lys7036fs)
|
|
|
NM_001164508.2(NEB):c.21111T>A (p.Tyr7037Ter)
|
|
|
NM_001164508.2(NEB):c.21115G>C (p.Glu7039Gln)
|
|
|
NM_001164508.2(NEB):c.2111G>A (p.Ser704Asn)
|
|
|
NM_001164508.2(NEB):c.21120C>T (p.Asp7040=)
|
rs2153545616
|
|
NM_001164508.2(NEB):c.21124_21128del (p.Thr7042fs)
|
|
|
NM_001164508.2(NEB):c.21130del (p.Gly7046fs)
|
|
|
NM_001164508.2(NEB):c.21147C>T (p.Cys7049=)
|
rs1239511851
|
|
NM_001164508.2(NEB):c.21162C>A (p.Thr7054=)
|
rs766718173
|
|
NM_001164508.2(NEB):c.21167A>G (p.Asp7056Gly)
|
|
|
NM_001164508.2(NEB):c.21175C>T (p.Leu7059=)
|
|
|
NM_001164508.2(NEB):c.21189C>T (p.Asn7063=)
|
|
|
NM_001164508.2(NEB):c.2118A>G (p.Lys706=)
|
|
|
NM_001164508.2(NEB):c.21194C>T (p.Thr7065Ile)
|
|
|
NM_001164508.2(NEB):c.21197T>C (p.Leu7066Pro)
|
|
|
NM_001164508.2(NEB):c.21198C>G (p.Leu7066=)
|
rs776018438
|
|
NM_001164508.2(NEB):c.21198_21199del (p.Tyr7067fs)
|
rs2093334853
|
|
NM_001164508.2(NEB):c.21204C>T (p.Ser7068=)
|
|
|
NM_001164508.2(NEB):c.21207+10C>T
|
rs2153544833
|
|
NM_001164508.2(NEB):c.21207+12C>T
|
|
|
NM_001164508.2(NEB):c.21207+15G>A
|
|
|
NM_001164508.2(NEB):c.21207+4T>C
|
|
|
NM_001164508.2(NEB):c.21207+6T>C
|
|
|
NM_001164508.2(NEB):c.21207+7_21207+8insCAGCAATTC
|
|
|
NM_001164508.2(NEB):c.21207+8T>C
|
rs1553686509
|
|
NM_001164508.2(NEB):c.21207+9A>G
|
rs553190163
|
|
NM_001164508.2(NEB):c.21208-10T>G
|
|
|
NM_001164508.2(NEB):c.21208-16G>A
|
|
|
NM_001164508.2(NEB):c.21208-18A>G
|
|
|
NM_001164508.2(NEB):c.21208-19C>T
|
|
|
NM_001164508.2(NEB):c.21208-20C>G
|
|
|
NM_001164508.2(NEB):c.21208-5del
|
rs888362153
|
|
NM_001164508.2(NEB):c.21208-5dup
|
rs888362153
|
|
NM_001164508.2(NEB):c.21208-7T>C
|
|
|
NM_001164508.2(NEB):c.21212A>C (p.Lys7071Thr)
|
|
|
NM_001164508.2(NEB):c.21212A>G (p.Lys7071Arg)
|
rs2093050726
|
|
NM_001164508.2(NEB):c.21213del (p.Lys7071fs)
|
|
|
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)
|
|
|
NM_001164508.2(NEB):c.21221A>G (p.Glu7074Gly)
|
rs1190090108
|
|
NM_001164508.2(NEB):c.2122G>A (p.Glu708Lys)
|
rs1553587676
|
|
NM_001164508.2(NEB):c.21230_21231insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGTATTTGA (p.Glu7077_Arg7078insAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_001164508.2(NEB):c.21234G>A (p.Arg7078=)
|
|
|
NM_001164508.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del)
|
rs1553683478
|
|
NM_001164508.2(NEB):c.21245A>G (p.Asp7082Gly)
|
|
|
NM_001164508.2(NEB):c.21246T>G (p.Asp7082Glu)
|
rs2153534764
|
|
NM_001164508.2(NEB):c.21252G>A (p.Lys7084=)
|
|
|
NM_001164508.2(NEB):c.21255T>C (p.Tyr7085=)
|
|
|
NM_001164508.2(NEB):c.21262G>A (p.Asp7088Asn)
|
|
|
NM_001164508.2(NEB):c.21264C>T (p.Asp7088=)
|
rs1274750988
|
|
NM_001164508.2(NEB):c.21267T>C (p.Ser7089=)
|
|
|
NM_001164508.2(NEB):c.21270G>A (p.Pro7090=)
|
rs368887173
|
|
NM_001164508.2(NEB):c.21279G>A (p.Arg7093=)
|
|
|
NM_001164508.2(NEB):c.21287A>G (p.Lys7096Arg)
|
|
|
NM_001164508.2(NEB):c.2128G>A (p.Glu710Lys)
|
|
|
NM_001164508.2(NEB):c.21291T>C (p.Tyr7097=)
|
|
|
NM_001164508.2(NEB):c.21296C>G (p.Thr7099Ser)
|
|
|
NM_001164508.2(NEB):c.21299_21302del (p.Gln7100fs)
|
|
|
NM_001164508.2(NEB):c.21300A>G (p.Gln7100=)
|
rs1050612430
|
|
NM_001164508.2(NEB):c.21309T>C (p.Asn7103=)
|
|
|
NM_001164508.2(NEB):c.2130A>G (p.Glu710=)
|
rs2149154304
|
|
NM_001164508.2(NEB):c.21312+16C>T
|
|
|
NM_001164508.2(NEB):c.21312+1G>A
|
rs1553682994
|
|
NM_001164508.2(NEB):c.21312+7A>G
|
rs2153534308
|
|
NM_001164508.2(NEB):c.21313-10G>A
|
rs1423055409
|
|
NM_001164508.2(NEB):c.21313-19C>T
|
|
|
NM_001164508.2(NEB):c.21313-1G>C
|
rs2153515796
|
|
NM_001164508.2(NEB):c.21313-5G>C
|
rs2153515816
|
|
NM_001164508.2(NEB):c.21313-649C>A
|
|
|
NM_001164508.2(NEB):c.21313-649C>T
|
|
|
NM_001164508.2(NEB):c.21313-651G>A
|
|
|
NM_001164508.2(NEB):c.21313-656G>A
|
|
|
NM_001164508.2(NEB):c.21313-658G>A
|
|
|
NM_001164508.2(NEB):c.21313-659T>C
|
|
|
NM_001164508.2(NEB):c.21313-777G>A
|
rs2153522125
|
|
NM_001164508.2(NEB):c.21313-777G>C
|
|
|
NM_001164508.2(NEB):c.21313-783G>A
|
|
|
NM_001164508.2(NEB):c.21313-792T>C
|
|
|
NM_001164508.2(NEB):c.21313-793A>T
|
|
|
NM_001164508.2(NEB):c.21313-9C>T
|
rs1576549807
|
|
NM_001164508.2(NEB):c.21317A>G (p.Lys7106Arg)
|
|
|
NM_001164508.2(NEB):c.21318del (p.Lys7106fs)
|
rs2092318339
|
|
NM_001164508.2(NEB):c.21320A>G (p.Tyr7107Cys)
|
|
|
NM_001164508.2(NEB):c.21323A>T (p.Lys7108Ile)
|
|
|
NM_001164508.2(NEB):c.21329G>A (p.Ser7110Asn)
|
|
|
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly)
|
rs1279646895
|
|
NM_001164508.2(NEB):c.2133A>G (p.Glu711=)
|
|
|
NM_001164508.2(NEB):c.21344T>C (p.Leu7115Pro)
|
rs1003798007
|
|
NM_001164508.2(NEB):c.21348A>T (p.Gln7116His)
|
|
|
NM_001164508.2(NEB):c.21349C>A (p.His7117Asn)
|
|
|
NM_001164508.2(NEB):c.21351T>C (p.His7117=)
|
rs2092309757
|
|
NM_001164508.2(NEB):c.21352G>C (p.Gly7118Arg)
|
|
|
NM_001164508.2(NEB):c.21356G>A (p.Cys7119Tyr)
|
|
|
NM_001164508.2(NEB):c.21358A>C (p.Asn7120His)
|
|
|
NM_001164508.2(NEB):c.2136T>C (p.Asp712=)
|
|
|
NM_001164508.2(NEB):c.2136T>G (p.Asp712Glu)
|
rs1359338282
|
|
NM_001164508.2(NEB):c.21392T>C (p.Leu7131Pro)
|
rs2092301005
|
|
NM_001164508.2(NEB):c.21403C>T (p.His7135Tyr)
|
|
|
NM_001164508.2(NEB):c.21405dup (p.Met7136fs)
|
rs2153515167
|
|
NM_001164508.2(NEB):c.21411G>C (p.Trp7137Cys)
|
rs1343837039
|
|
NM_001164508.2(NEB):c.21417+14G>C
|
|
|
NM_001164508.2(NEB):c.21417+17T>A
|
|
|
NM_001164508.2(NEB):c.21417+18del
|
|
|
NM_001164508.2(NEB):c.21417+1G>A
|
rs2153515061
|
|
NM_001164508.2(NEB):c.21417+3A>T
|
|
|
NM_001164508.2(NEB):c.21417+8C>T
|
|
|
NM_001164508.2(NEB):c.21418-10C>T
|
rs201634621
|
|
NM_001164508.2(NEB):c.21418-15T>C
|
|
|
NM_001164508.2(NEB):c.21418-1G>A
|
rs2153501801
|
|
NM_001164508.2(NEB):c.21418-6del
|
rs56026241
|
|
NM_001164508.2(NEB):c.21418-8C>T
|
|
|
NM_001164508.2(NEB):c.21418-9A>G
|
rs1553669362
|
|
NM_001164508.2(NEB):c.2141G>A (p.Gly714Glu)
|
|
|
NM_001164508.2(NEB):c.21420C>G (p.Ile7140Met)
|
|
|
NM_001164508.2(NEB):c.21424T>C (p.Tyr7142His)
|
|
|
NM_001164508.2(NEB):c.21426C>A (p.Tyr7142Ter)
|
rs2091275452
|
|
NM_001164508.2(NEB):c.21426C>T (p.Tyr7142=)
|
rs2091275452
|
|
NM_001164508.2(NEB):c.21431A>G (p.Lys7144Arg)
|
|
|
NM_001164508.2(NEB):c.21435C>A (p.Asn7145Lys)
|
|
|
NM_001164508.2(NEB):c.21439G>A (p.Glu7147Lys)
|
|
|
NM_001164508.2(NEB):c.21444A>G (p.Lys7148=)
|
|
|
NM_001164508.2(NEB):c.21447A>C (p.Ser7149=)
|
rs2153501636
|
|
NM_001164508.2(NEB):c.21454A>G (p.Lys7152Glu)
|
rs2153501624
|
|
NM_001164508.2(NEB):c.21457T>G (p.Phe7153Val)
|
rs2153501601
|
|
NM_001164508.2(NEB):c.2145A>G (p.Lys715=)
|
|
|
NM_001164508.2(NEB):c.21462C>T (p.Thr7154=)
|
|
|
NM_001164508.2(NEB):c.21465A>G (p.Ser7155=)
|
rs2153501542
|
|
NM_001164508.2(NEB):c.21469G>T (p.Val7157Leu)
|
rs1576490497
|
|
NM_001164508.2(NEB):c.21484C>T (p.His7162Tyr)
|
|
|
NM_001164508.2(NEB):c.2148C>A (p.Cys716Ter)
|
|
|
NM_001164508.2(NEB):c.21490C>A (p.Arg7164Ser)
|
rs771050596
|
|
NM_001164508.2(NEB):c.21490C>T (p.Arg7164Cys)
|
|
|
NM_001164508.2(NEB):c.21491G>C (p.Arg7164Pro)
|
rs16830171
|
|
NM_001164508.2(NEB):c.21492T>A (p.Arg7164=)
|
rs2153501339
|
|
NM_001164508.2(NEB):c.21492T>C (p.Arg7164=)
|
|
|
NM_001164508.2(NEB):c.214A>G (p.Ile72Val)
|
rs1553698165
|
|
NM_001164508.2(NEB):c.21500_21501del (p.Lys7167fs)
|
|
|
NM_001164508.2(NEB):c.21504C>A (p.Val7168=)
|
|
|
NM_001164508.2(NEB):c.2150A>G (p.Tyr717Cys)
|
|
|
NM_001164508.2(NEB):c.21510A>G (p.Lys7170=)
|
rs1216670824
|
|
NM_001164508.2(NEB):c.21516C>A (p.Ile7172=)
|
rs1576489349
|
|
NM_001164508.2(NEB):c.21516C>T (p.Ile7172=)
|
rs1576489349
|
|
NM_001164508.2(NEB):c.21519C>A (p.Ser7173Arg)
|
|
|
NM_001164508.2(NEB):c.21520G>A (p.Asp7174Asn)
|
rs1227689355
|
|
NM_001164508.2(NEB):c.21522+16A>G
|
|
|
NM_001164508.2(NEB):c.21522+7G>C
|
|
|
NM_001164508.2(NEB):c.21523-11dup
|
|
|
NM_001164508.2(NEB):c.21523-12T>C
|
|
|
NM_001164508.2(NEB):c.21523-17G>A
|
|
|
NM_001164508.2(NEB):c.21523-17G>T
|
|
|
NM_001164508.2(NEB):c.21523-19C>G
|
|
|
NM_001164508.2(NEB):c.21523-1G>T
|
|
|
NM_001164508.2(NEB):c.21523-6T>C
|
rs2153489992
|
|
NM_001164508.2(NEB):c.21523-9A>G
|
|
|
NM_001164508.2(NEB):c.21525C>A (p.Ile7175=)
|
rs369183371
|
|
NM_001164508.2(NEB):c.21529T>C (p.Tyr7177His)
|
|
|
NM_001164508.2(NEB):c.21531T>C (p.Tyr7177=)
|
rs2090456365
|
|
NM_001164508.2(NEB):c.21534A>G (p.Lys7178=)
|
|
|
NM_001164508.2(NEB):c.21541T>C (p.Tyr7181His)
|
|
|
NM_001164508.2(NEB):c.21543CAA[1] (p.Asn7182del)
|
rs758160111
|
|
NM_001164508.2(NEB):c.21546C>A (p.Asn7182Lys)
|
rs149510427
|
|
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=)
|
rs149510427
|
|
NM_001164508.2(NEB):c.21558C>T (p.Pro7186=)
|
|
|
NM_001164508.2(NEB):c.2155C>A (p.Pro719Thr)
|
rs376503299
|
|
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser)
|
rs376503299
|
|
NM_001164508.2(NEB):c.21560G>C (p.Arg7187Thr)
|
|
|
NM_001164508.2(NEB):c.21563G>A (p.Gly7188Asp)
|
|
|
NM_001164508.2(NEB):c.21563G>T (p.Gly7188Val)
|
|
|
NM_001164508.2(NEB):c.21570C>G (p.Thr7190=)
|
rs2153489667
|
|
NM_001164508.2(NEB):c.21572C>G (p.Thr7191Arg)
|
|
|
NM_001164508.2(NEB):c.21580G>A (p.Asp7194Asn)
|
|
|
NM_001164508.2(NEB):c.21582C>T (p.Asp7194=)
|
rs527760406
|
|
NM_001164508.2(NEB):c.21584_21585inv (p.Thr7195Met)
|
|
|
NM_001164508.2(NEB):c.21588C>T (p.Pro7196=)
|
rs2090436424
|
|
NM_001164508.2(NEB):c.21597G>A (p.Leu7199=)
|
|
|
NM_001164508.2(NEB):c.21599A>G (p.His7200Arg)
|
|
|
NM_001164508.2(NEB):c.21600T>C (p.His7200=)
|
rs2090434299
|
|
NM_001164508.2(NEB):c.21605G>A (p.Arg7202His)
|
|
|
NM_001164508.2(NEB):c.21606C>T (p.Arg7202=)
|
rs2153489433
|
|
NM_001164508.2(NEB):c.21609G>A (p.Lys7203=)
|
|
|
NM_001164508.2(NEB):c.21609G>C (p.Lys7203Asn)
|
rs2090430591
|
|
NM_001164508.2(NEB):c.2160G>A (p.Gln720=)
|
|
|
NM_001164508.2(NEB):c.21624_21625insTTATACTTGACACCATG (p.Ser7209delinsLeuTyrLeuThrProTer)
|
|
|
NM_001164508.2(NEB):c.21628_21630+2del
|
rs2153489310
|
|
NM_001164508.2(NEB):c.21630+10A>G
|
rs2153489207
|
|
NM_001164508.2(NEB):c.21630+1G>A
|
rs1446706909
|
|
NM_001164508.2(NEB):c.21630+7A>G
|
rs1576455408
|
|
NM_001164508.2(NEB):c.21631-14G>A
|
|
|
NM_001164508.2(NEB):c.21631-14_21631-13del
|
rs778841804
|
|
NM_001164508.2(NEB):c.21631-16_21631-15insA
|
|
|
NM_001164508.2(NEB):c.21631-17del
|
|
|
NM_001164508.2(NEB):c.21631-7C>G
|
|
|
NM_001164508.2(NEB):c.21631-7C>T
|
rs374513817
|
|
NM_001164508.2(NEB):c.21634A>T (p.Lys7212Ter)
|
|
|
NM_001164508.2(NEB):c.2163A>G (p.Thr721=)
|
|
|
NM_001164508.2(NEB):c.21641AAG[1] (p.Glu7215del)
|
|
|
NM_001164508.2(NEB):c.21646G>A (p.Val7216Ile)
|
rs2153475893
|
|
NM_001164508.2(NEB):c.21649T>C (p.Tyr7217His)
|
|
|
NM_001164508.2(NEB):c.2164A>G (p.Ile722Val)
|
|
|
NM_001164508.2(NEB):c.21666C>G (p.Ser7222=)
|
|
|
NM_001164508.2(NEB):c.21668A>C (p.Asn7223Thr)
|
|
|
NM_001164508.2(NEB):c.21675C>G (p.Thr7225=)
|
|
|
NM_001164508.2(NEB):c.21677T>C (p.Ile7226Thr)
|
|
|
NM_001164508.2(NEB):c.2169A>C (p.Thr723=)
|
|
|
NM_001164508.2(NEB):c.21702A>G (p.Lys7234=)
|
|
|
NM_001164508.2(NEB):c.21708C>T (p.Ala7236=)
|
|
|
NM_001164508.2(NEB):c.21711_21712dup (p.Asp7238fs)
|
rs1559580467
|
|
NM_001164508.2(NEB):c.21712G>A (p.Asp7238Asn)
|
|
|
NM_001164508.2(NEB):c.21717C>A (p.Ala7239=)
|
|
|
NM_001164508.2(NEB):c.2172A>G (p.Gln724=)
|
rs2149152300
|
|
NM_001164508.2(NEB):c.21732C>G (p.Thr7244=)
|
|
|
NM_001164508.2(NEB):c.21732C>T (p.Thr7244=)
|
|
|
NM_001164508.2(NEB):c.21735+1G>C
|
rs2153475495
|
|
NM_001164508.2(NEB):c.21735+7_21735+10dup
|
|
|
NM_001164508.2(NEB):c.21736-12T>G
|
|
|
NM_001164508.2(NEB):c.21736-19TC[2]
|
rs752810060
|
|
NM_001164508.2(NEB):c.21736-19TC[4]
|
|
|
NM_001164508.2(NEB):c.21736-1G>T
|
|
|
NM_001164508.2(NEB):c.21736-2A>G
|
rs1389892619
|
|
NM_001164508.2(NEB):c.21736-7A>T
|
rs1576338070
|
|
NM_001164508.2(NEB):c.21736-9T>A
|
|
|
NM_001164508.2(NEB):c.21739G>C (p.Asp7247His)
|
|
|
NM_001164508.2(NEB):c.21741C>T (p.Asp7247=)
|
rs1462775059
|
|
NM_001164508.2(NEB):c.21743A>G (p.Tyr7248Cys)
|
rs2153463102
|
|
NM_001164508.2(NEB):c.21744T>A (p.Tyr7248Ter)
|
|
|
NM_001164508.2(NEB):c.21744T>C (p.Tyr7248=)
|
|
|
NM_001164508.2(NEB):c.21751C>T (p.Gln7251Ter)
|
rs373946758
|
|
NM_001164508.2(NEB):c.21773A>G (p.His7258Arg)
|
|
|
NM_001164508.2(NEB):c.21780G>A (p.Lys7260=)
|
|
|
NM_001164508.2(NEB):c.21789T>C (p.Pro7263=)
|
|
|
NM_001164508.2(NEB):c.21792C>A (p.Asp7264Glu)
|
|
|
NM_001164508.2(NEB):c.21792C>T (p.Asp7264=)
|
rs758971689
|
|
NM_001164508.2(NEB):c.21793del (p.Arg7265fs)
|
|
|
NM_001164508.2(NEB):c.21794G>A (p.Arg7265Gln)
|
|
|
NM_001164508.2(NEB):c.21795A>T (p.Arg7265=)
|
rs2153462890
|
|
NM_001164508.2(NEB):c.21798G>A (p.Pro7266=)
|
rs375581714
|
|
NM_001164508.2(NEB):c.21801C>T (p.Asp7267=)
|
|
|
NM_001164508.2(NEB):c.21816C>T (p.Ala7272=)
|
|
|
NM_001164508.2(NEB):c.21817A>T (p.Lys7273Ter)
|
|
|
NM_001164508.2(NEB):c.2181A>G (p.Glu727=)
|
rs2149152140
|
|
NM_001164508.2(NEB):c.21824C>G (p.Ser7275Cys)
|
|
|
NM_001164508.2(NEB):c.21826C>A (p.Leu7276Met)
|
|
|
NM_001164508.2(NEB):c.2182G>A (p.Ala728Thr)
|
rs1187124982
|
|
NM_001164508.2(NEB):c.21831G>A (p.Gln7277=)
|
|
|
NM_001164508.2(NEB):c.2183C>T (p.Ala728Val)
|
|
|
NM_001164508.2(NEB):c.21840+10G>T
|
rs1198385109
|
|
NM_001164508.2(NEB):c.21840+14G>C
|
|
|
NM_001164508.2(NEB):c.21840+16C>T
|
rs768934807
|
|
NM_001164508.2(NEB):c.21840+17A>G
|
|
|
NM_001164508.2(NEB):c.21840+7C>T
|
|
|
NM_001164508.2(NEB):c.21841-10T>G
|
|
|
NM_001164508.2(NEB):c.21841-15T>C
|
|
|
NM_001164508.2(NEB):c.21841-16C>T
|
|
|
NM_001164508.2(NEB):c.21841-20C>T
|
rs1280656368
|
|
NM_001164508.2(NEB):c.21841-5C>A
|
rs1447082461
|
|
NM_001164508.2(NEB):c.21841-5C>T
|
rs1447082461
|
|
NM_001164508.2(NEB):c.21841-7A>G
|
rs1576315905
|
|
NM_001164508.2(NEB):c.21843T>C (p.Phe7281=)
|
rs2086545410
|
|
NM_001164508.2(NEB):c.21852G>A (p.Lys7284=)
|
rs2153458955
|
|
NM_001164508.2(NEB):c.21855G>A (p.Leu7285=)
|
|
|
NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly)
|
rs376072545
|
|
NM_001164508.2(NEB):c.21859C>T (p.Arg7287Trp)
|
|
|
NM_001164508.2(NEB):c.21860G>A (p.Arg7287Gln)
|
|
|
NM_001164508.2(NEB):c.21862G>A (p.Glu7288Lys)
|
rs768693028
|
|
NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)
|
|
|
NM_001164508.2(NEB):c.21870C>A (p.Leu7290=)
|
|
|
NM_001164508.2(NEB):c.21873G>A (p.Lys7291=)
|
rs2153458824
|
|
NM_001164508.2(NEB):c.21874G>C (p.Gly7292Arg)
|
|
|
NM_001164508.2(NEB):c.21879C>T (p.Cys7293=)
|
|
|
NM_001164508.2(NEB):c.21885_21888del (p.Val7297fs)
|
|
|
NM_001164508.2(NEB):c.21887_21888del (p.Ser7296fs)
|
|
|
NM_001164508.2(NEB):c.21891C>A (p.Val7297=)
|
rs2153458732
|
|
NM_001164508.2(NEB):c.21908C>G (p.Thr7303Arg)
|
rs374819736
|
|
NM_001164508.2(NEB):c.21908C>T (p.Thr7303Met)
|
|
|
NM_001164508.2(NEB):c.21909G>C (p.Thr7303=)
|
|
|
NM_001164508.2(NEB):c.21910G>A (p.Val7304Met)
|
|
|
NM_001164508.2(NEB):c.21919C>A (p.Leu7307Ile)
|
|
|
NM_001164508.2(NEB):c.21921C>A (p.Leu7307=)
|
|
|
NM_001164508.2(NEB):c.21921C>G (p.Leu7307=)
|
|
|
NM_001164508.2(NEB):c.21933A>G (p.Leu7311=)
|
rs2153458591
|
|
NM_001164508.2(NEB):c.21933_21934insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAATACTTTA (p.Ile7312delinsPhePhePhePhePhePheXaaXaaXaaXaaValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
NM_001164508.2(NEB):c.21939A>G (p.Glu7313=)
|
rs2153458580
|
|
NM_001164508.2(NEB):c.21942T>C (p.Ser7314=)
|
|
|
NM_001164508.2(NEB):c.21945+11A>G
|
|
|
NM_001164508.2(NEB):c.21945+13T>C
|
rs1553649614
|
|
NM_001164508.2(NEB):c.21945+16C>G
|
|
|
NM_001164508.2(NEB):c.21945+1G>A
|
|
|
NM_001164508.2(NEB):c.21945+1G>C
|
rs2153458564
|
|
NM_001164508.2(NEB):c.21945+8C>A
|
|
|
NM_001164508.2(NEB):c.21945+8C>T
|
rs2153458512
|
|
NM_001164508.2(NEB):c.21945+9C>T
|
|
|
NM_001164508.2(NEB):c.21945T>C (p.Asp7315=)
|
|
|
NM_001164508.2(NEB):c.21946-14T>C
|
|
|
NM_001164508.2(NEB):c.21946-18C>T
|
|
|
NM_001164508.2(NEB):c.21946-19C>T
|
rs1442285194
|
|
NM_001164508.2(NEB):c.21946-20C>T
|
|
|
NM_001164508.2(NEB):c.21946-2del
|
rs1553647715
|
|
NM_001164508.2(NEB):c.21946-5del
|
|
|
NM_001164508.2(NEB):c.21946-6C>G
|
rs2085770082
|
|
NM_001164508.2(NEB):c.21946-7C>T
|
rs2153453870
|
|
NM_001164508.2(NEB):c.21948G>C (p.Leu7316=)
|
|
|
NM_001164508.2(NEB):c.21956A>C (p.Lys7319Thr)
|
|
|
NM_001164508.2(NEB):c.21956A>G (p.Lys7319Arg)
|
|
|
NM_001164508.2(NEB):c.21960dup (p.Lys7321fs)
|
|
|
NM_001164508.2(NEB):c.21966T>C (p.His7322=)
|
|
|
NM_001164508.2(NEB):c.21969C>T (p.Val7323=)
|
rs554809115
|
|
NM_001164508.2(NEB):c.21972G>A (p.Lys7324=)
|
rs267598918
|
|
NM_001164508.2(NEB):c.21973G>A (p.Glu7325Lys)
|
rs747662624
|
|
NM_001164508.2(NEB):c.21980G>C (p.Gly7327Ala)
|
rs751167749
|
|
NM_001164508.2(NEB):c.21981A>G (p.Gly7327=)
|
rs2153453611
|
|
NM_001164508.2(NEB):c.21982A>G (p.Thr7328Ala)
|
|
|
NM_001164508.2(NEB):c.21983C>A (p.Thr7328Asn)
|
|
|
NM_001164508.2(NEB):c.21988C>G (p.His7330Asp)
|
|
|
NM_001164508.2(NEB):c.21996A>G (p.Val7332=)
|
|
|
NM_001164508.2(NEB):c.219G>A (p.Arg73=)
|
|
|
NM_001164508.2(NEB):c.22005G>T (p.Thr7335=)
|
|
|
NM_001164508.2(NEB):c.22007C>T (p.Pro7336Leu)
|
rs1559547106
|
|
NM_001164508.2(NEB):c.22008T>A (p.Pro7336=)
|
|
|
NM_001164508.2(NEB):c.2200C>T (p.Gln734Ter)
|
rs780299519
|
|
NM_001164508.2(NEB):c.22011G>A (p.Gln7337=)
|
rs774410460
|
|
NM_001164508.2(NEB):c.22014C>T (p.Ile7338=)
|
|
|
NM_001164508.2(NEB):c.22016del (p.Leu7339fs)
|
rs2153453450
|
|
NM_001164508.2(NEB):c.22020G>A (p.Leu7340=)
|
rs2153453430
|
|
NM_001164508.2(NEB):c.22025A>G (p.Lys7342Arg)
|
|
|
NM_001164508.2(NEB):c.22026G>A (p.Lys7342=)
|
|
|
NM_001164508.2(NEB):c.22026G>C (p.Lys7342Asn)
|
|
|
NM_001164508.2(NEB):c.2202G>C (p.Gln734His)
|
|
|
NM_001164508.2(NEB):c.22030_22031del (p.Val7344fs)
|
|
|
NM_001164508.2(NEB):c.22034G>C (p.Ser7345Thr)
|
|
|
NM_001164508.2(NEB):c.22039C>T (p.Leu7347=)
|
rs2085711900
|
|
NM_001164508.2(NEB):c.22042G>A (p.Val7348Met)
|
rs200918570
|
|
NM_001164508.2(NEB):c.22044_22045del (p.Val7348_Ser7349insTer)
|
rs2153453236
|
|
NM_001164508.2(NEB):c.22047T>C (p.Ser7349=)
|
rs2153453220
|
|
NM_001164508.2(NEB):c.22048G>T (p.Glu7350Ter)
|
|
|
NM_001164508.2(NEB):c.22050+10A>C
|
|
|
NM_001164508.2(NEB):c.22050+12C>T
|
|
|
NM_001164508.2(NEB):c.22050+16C>T
|
|
|
NM_001164508.2(NEB):c.22050+18A>G
|
|
|
NM_001164508.2(NEB):c.22050+20G>A
|
rs758004610
|
|
NM_001164508.2(NEB):c.22050+9C>G
|
|
|
NM_001164508.2(NEB):c.22051-14A>G
|
|
|
NM_001164508.2(NEB):c.22051-20C>G
|
|
|
NM_001164508.2(NEB):c.22051-4C>T
|
rs2153452529
|
|
NM_001164508.2(NEB):c.22051-6C>T
|
|
|
NM_001164508.2(NEB):c.22051-7C>T
|
|
|
NM_001164508.2(NEB):c.22071C>G (p.Val7357=)
|
|
|
NM_001164508.2(NEB):c.22083G>A (p.Leu7361=)
|
|
|
NM_001164508.2(NEB):c.22087C>T (p.Gln7363Ter)
|
rs1553646540
|
|
NM_001164508.2(NEB):c.22089G>A (p.Gln7363=)
|
|
|
NM_001164508.2(NEB):c.22090G>C (p.Gly7364Arg)
|
rs2085588572
|
|
NM_001164508.2(NEB):c.22092C>G (p.Gly7364=)
|
|
|
NM_001164508.2(NEB):c.22095A>G (p.Ser7365=)
|
|
|
NM_001164508.2(NEB):c.22096T>C (p.Tyr7366His)
|
|
|
NM_001164508.2(NEB):c.22098C>T (p.Tyr7366=)
|
|
|
NM_001164508.2(NEB):c.22099ACA[1] (p.Thr7368del)
|
rs1553646403
|
|
NM_001164508.2(NEB):c.22107A>G (p.Leu7369=)
|
|
|
NM_001164508.2(NEB):c.22109C>G (p.Pro7370Arg)
|
|
|
NM_001164508.2(NEB):c.2211+11T>C
|
|
|
NM_001164508.2(NEB):c.2211+12G>T
|
rs2099553755
|
|
NM_001164508.2(NEB):c.2211+15C>A
|
|
|
NM_001164508.2(NEB):c.2211+15C>G
|
|
|
NM_001164508.2(NEB):c.2211+19A>G
|
|
|
NM_001164508.2(NEB):c.2211+1G>A
|
rs1553586486
|
|
NM_001164508.2(NEB):c.2211+2T>A
|
rs2149150540
|
|
NM_001164508.2(NEB):c.2211+4A>C
|
rs2099553895
|
|
NM_001164508.2(NEB):c.2211+5G>A
|
rs797045736
|
|
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser)
|
rs750642580
|
|
NM_001164508.2(NEB):c.22116C>G (p.Thr7372=)
|
|
|
NM_001164508.2(NEB):c.22119G>A (p.Arg7373=)
|
rs2153452193
|
|
NM_001164508.2(NEB):c.2211T>C (p.Asp737=)
|
rs765620977
|
|
NM_001164508.2(NEB):c.2212-12C>A
|
|
|
NM_001164508.2(NEB):c.2212-12C>G
|
|
|
NM_001164508.2(NEB):c.2212-12C>T
|
|
|
NM_001164508.2(NEB):c.2212-14A>G
|
|
|
NM_001164508.2(NEB):c.2212-18G>A
|
|
|
NM_001164508.2(NEB):c.2212-18G>C
|
|
|
NM_001164508.2(NEB):c.2212-18G>T
|
|
|
NM_001164508.2(NEB):c.2212-1G>A
|
rs2149103521
|
|
NM_001164508.2(NEB):c.2212-2A>G
|
rs1553580540
|
|
NM_001164508.2(NEB):c.2212-9C>T
|
|
|
NM_001164508.2(NEB):c.2212-9_2212-7del
|
rs2099542943
|
|
NM_001164508.2(NEB):c.22122C>T (p.Asp7374=)
|
|
|
NM_001164508.2(NEB):c.22124C>T (p.Thr7375Ile)
|
rs1195608964
|
|
NM_001164508.2(NEB):c.22131C>T (p.His7377=)
|
|
|
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile)
|
rs764524918
|
|
NM_001164508.2(NEB):c.22134C>T (p.Val7378=)
|
|
|
NM_001164508.2(NEB):c.22138del (p.Glu7380fs)
|
rs1235589246
|
|
NM_001164508.2(NEB):c.22142_22143del (p.Val7381fs)
|
|
|
NM_001164508.2(NEB):c.22143G>A (p.Val7381=)
|
|
|
NM_001164508.2(NEB):c.22148A>C (p.Lys7383Thr)
|
|
|
NM_001164508.2(NEB):c.22153G>T (p.Val7385Phe)
|
|
|
NM_001164508.2(NEB):c.22153del (p.Val7385fs)
|
|
|
NM_001164508.2(NEB):c.22155C>A (p.Val7385=)
|
rs2085548955
|
|
NM_001164508.2(NEB):c.22155C>T (p.Val7385=)
|
|
|
NM_001164508.2(NEB):c.22161+16C>T
|
|
|
NM_001164508.2(NEB):c.22161+17_22161+18delinsTC
|
rs2153451799
|
|
NM_001164508.2(NEB):c.22161+18G>A
|
|
|
NM_001164508.2(NEB):c.22161+18G>C
|
rs6721666
|
|
NM_001164508.2(NEB):c.22161+18G>T
|
|
|
NM_001164508.2(NEB):c.22161+18_22161+19insC
|
|
|
NM_001164508.2(NEB):c.22161+1G>A
|
rs112933443
|
|
NM_001164508.2(NEB):c.22161+7G>A
|
rs1019461241
|
|
NM_001164508.2(NEB):c.22161+7G>C
|
|
|
NM_001164508.2(NEB):c.22161+8A>G
|
rs2153451874
|
|
NM_001164508.2(NEB):c.22162-14C>T
|
|
|
NM_001164508.2(NEB):c.22162-19T>C
|
|
|
NM_001164508.2(NEB):c.22162-5_22162-2del
|
rs1553644243
|
|
NM_001164508.2(NEB):c.22162-6A>G
|
rs2153447957
|
|
NM_001164508.2(NEB):c.2216C>A (p.Thr739Asn)
|
rs2099542868
|
|
NM_001164508.2(NEB):c.22173A>T (p.Lys7391Asn)
|
rs2085025144
|
|
NM_001164508.2(NEB):c.22175del (p.Lys7392fs)
|
rs2153447885
|
|
NM_001164508.2(NEB):c.22179G>A (p.Lys7393=)
|
rs1296105706
|
|
NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser)
|
rs2153447855
|
|
NM_001164508.2(NEB):c.22194A>G (p.Lys7398=)
|
rs1232660353
|
|
NM_001164508.2(NEB):c.22197A>G (p.Gly7399=)
|
rs748084943
|
|
NM_001164508.2(NEB):c.22203C>G (p.Ser7401=)
|
rs2085013624
|
|
NM_001164508.2(NEB):c.22206C>T (p.Asn7402=)
|
|
|
NM_001164508.2(NEB):c.22213A>G (p.Ile7405Val)
|
rs2153447751
|
|
NM_001164508.2(NEB):c.22220del (p.Leu7407fs)
|
|
|
NM_001164508.2(NEB):c.22221G>T (p.Leu7407=)
|
|
|
NM_001164508.2(NEB):c.22224G>A (p.Glu7408=)
|
|
|
NM_001164508.2(NEB):c.22228C>T (p.Pro7410Ser)
|
|
|
NM_001164508.2(NEB):c.22229del (p.Pro7410fs)
|
|
|
NM_001164508.2(NEB):c.22231G>A (p.Glu7411Lys)
|
|
|
NM_001164508.2(NEB):c.22233G>A (p.Glu7411=)
|
|
|
NM_001164508.2(NEB):c.22233G>C (p.Glu7411Asp)
|
rs1576243073
|
|
NM_001164508.2(NEB):c.2223A>G (p.Lys741=)
|
|
|
NM_001164508.2(NEB):c.22241A>G (p.His7414Arg)
|
rs757621514
|
|
NM_001164508.2(NEB):c.22242T>C (p.His7414=)
|
|
|
NM_001164508.2(NEB):c.22249G>C (p.Glu7417Gln)
|
|
|
NM_001164508.2(NEB):c.22252G>A (p.Val7418Met)
|
|
|
NM_001164508.2(NEB):c.22254G>A (p.Val7418=)
|
rs1576242281
|
|
NM_001164508.2(NEB):c.22256_22257delinsG (p.Ala7419fs)
|
rs1559534672
|
|
NM_001164508.2(NEB):c.22257C>A (p.Ala7419=)
|
|
|
NM_001164508.2(NEB):c.22261A>G (p.Lys7421Glu)
|
|
|
NM_001164508.2(NEB):c.22262A>G (p.Lys7421Arg)
|
|
|
NM_001164508.2(NEB):c.22264C>G (p.Gln7422Glu)
|
rs369642754
|
|
NM_001164508.2(NEB):c.22269T>C (p.Ser7423=)
|
rs2153447396
|
|
NM_001164508.2(NEB):c.2226T>G (p.Val742=)
|
|
|
NM_001164508.2(NEB):c.22272+10C>T
|
|
|
NM_001164508.2(NEB):c.22272+17A>G
|
|
|
NM_001164508.2(NEB):c.22272+1G>A
|
|
|
NM_001164508.2(NEB):c.22272+2_22272+3del
|
rs2153447342
|
|
NM_001164508.2(NEB):c.22272+2dup
|
rs773465809
|
|
NM_001164508.2(NEB):c.22272+9del
|
rs2153447269
|
|
NM_001164508.2(NEB):c.22273-17T>C
|
|
|
NM_001164508.2(NEB):c.22273-1G>A
|
rs1553642332
|
|
NM_001164508.2(NEB):c.22273-20C>T
|
|
|
NM_001164508.2(NEB):c.22273-36CT[5]
|
rs751597547
|
|
NM_001164508.2(NEB):c.22273-4A>G
|
rs2153439900
|
|
NM_001164508.2(NEB):c.22273-5T>C
|
rs886054929
|
|
NM_001164508.2(NEB):c.22273-6_22273-2dup
|
rs758609054
|
|
NM_001164508.2(NEB):c.22273-7A>G
|
rs755544084
|
|
NM_001164508.2(NEB):c.22273-7A>T
|
rs755544084
|
|
NM_001164508.2(NEB):c.22273G>T (p.Val7425Phe)
|
rs752028559
|
|
NM_001164508.2(NEB):c.22275C>T (p.Val7425=)
|
rs2153439817
|
|
NM_001164508.2(NEB):c.22276del (p.Ala7426fs)
|
|
|
NM_001164508.2(NEB):c.22284A>G (p.Arg7428=)
|
rs2153439721
|
|
NM_001164508.2(NEB):c.22287_22292delinsCGAT (p.Lys7429fs)
|
|
|
NM_001164508.2(NEB):c.22290T>C (p.Asp7430=)
|
rs2153439690
|
|
NM_001164508.2(NEB):c.22294_22295insCAGATTTA (p.Lys7432fs)
|
|
|
NM_001164508.2(NEB):c.22299G>A (p.Glu7433=)
|
|
|
NM_001164508.2(NEB):c.22301A>C (p.Asn7434Thr)
|
|
|
NM_001164508.2(NEB):c.22302C>T (p.Asn7434=)
|
rs188004000
|
|
NM_001164508.2(NEB):c.22305G>A (p.Leu7435=)
|
|
|
NM_001164508.2(NEB):c.22305G>C (p.Leu7435=)
|
rs1377472820
|
|
NM_001164508.2(NEB):c.2230C>T (p.Pro744Ser)
|
|
|
NM_001164508.2(NEB):c.2230_2231del (p.Pro744fs)
|
|
|
NM_001164508.2(NEB):c.22311C>T (p.Tyr7437=)
|
rs760746706
|
|
NM_001164508.2(NEB):c.22312_22315dup (p.Thr7439fs)
|
rs2084217268
|
|
NM_001164508.2(NEB):c.22313C>T (p.Thr7438Ile)
|
rs2153439522
|
|
NM_001164508.2(NEB):c.22315dup (p.Thr7439fs)
|
|
|
NM_001164508.2(NEB):c.22323T>C (p.Ala7441=)
|
|
|
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)
|
rs1576203853
|
|
NM_001164508.2(NEB):c.22328G>A (p.Arg7443Gln)
|
|
|
NM_001164508.2(NEB):c.22328G>C (p.Arg7443Pro)
|
rs2084210932
|
|
NM_001164508.2(NEB):c.22330C>G (p.Pro7444Ala)
|
|
|
NM_001164508.2(NEB):c.22332A>G (p.Pro7444=)
|
rs2153439382
|
|
NM_001164508.2(NEB):c.22333_22339del (p.Asp7445fs)
|
|
|
NM_001164508.2(NEB):c.22335C>T (p.Asp7445=)
|
rs2153439353
|
|
NM_001164508.2(NEB):c.22339AAG[1] (p.Lys7448del)
|
rs1553641943
|
|
NM_001164508.2(NEB):c.22342A>G (p.Lys7448Glu)
|
|
|
NM_001164508.2(NEB):c.22345G>T (p.Ala7449Ser)
|
|
|
NM_001164508.2(NEB):c.22347C>G (p.Ala7449=)
|
|
|
NM_001164508.2(NEB):c.22347C>T (p.Ala7449=)
|
rs2153439256
|
|
NM_001164508.2(NEB):c.2234A>G (p.Asp745Gly)
|
rs1436329266
|
|
NM_001164508.2(NEB):c.22351C>G (p.Gln7451Glu)
|
rs2084197089
|
|
NM_001164508.2(NEB):c.22351C>T (p.Gln7451Ter)
|
|
|
NM_001164508.2(NEB):c.22353_22354insCA (p.Ala7452fs)
|
|
|
NM_001164508.2(NEB):c.22356A>G (p.Ala7452=)
|
|
|
NM_001164508.2(NEB):c.2235T>C (p.Asp745=)
|
rs2149102627
|
|
NM_001164508.2(NEB):c.22365G>A (p.Gln7455=)
|
|
|
NM_001164508.2(NEB):c.22367C>T (p.Ala7456Val)
|
rs2153439115
|
|
NM_001164508.2(NEB):c.22372G>A (p.Glu7458Lys)
|
rs2084187419
|
|
NM_001164508.2(NEB):c.22374+13_22374+33dup
|
rs1553641788
|
|
NM_001164508.2(NEB):c.22374+17A>C
|
|
|
NM_001164508.2(NEB):c.22374+19T>C
|
|
|
NM_001164508.2(NEB):c.22374+7G>A
|
rs750007608
|
|
NM_001164508.2(NEB):c.22374+7G>C
|
|
|
NM_001164508.2(NEB):c.22374+9del
|
|
|
NM_001164508.2(NEB):c.22375-12T>C
|
|
|
NM_001164508.2(NEB):c.22375-16G>T
|
|
|
NM_001164508.2(NEB):c.22375-1G>C
|
|
|
NM_001164508.2(NEB):c.22375-2A>G
|
rs2153437998
|
|
NM_001164508.2(NEB):c.22375-5T>A
|
|
|
NM_001164508.2(NEB):c.22375-7G>C
|
rs2153438059
|
|
NM_001164508.2(NEB):c.22375-8T>G
|
|
|
NM_001164508.2(NEB):c.22375-9C>G
|
|
|
NM_001164508.2(NEB):c.22389C>T (p.Ala7463=)
|
|
|
NM_001164508.2(NEB):c.22392G>A (p.Lys7464=)
|
|
|
NM_001164508.2(NEB):c.22397G>A (p.Arg7466His)
|
|
|
NM_001164508.2(NEB):c.22398C>G (p.Arg7466=)
|
rs1435249313
|
|
NM_001164508.2(NEB):c.22401G>A (p.Lys7467=)
|
rs2153437849
|
|
NM_001164508.2(NEB):c.22403A>C (p.Glu7468Ala)
|
|
|
NM_001164508.2(NEB):c.2240C>A (p.Thr747Asn)
|
|
|
NM_001164508.2(NEB):c.22411C>T (p.His7471Tyr)
|
|
|
NM_001164508.2(NEB):c.22417T>C (p.Leu7473=)
|
|
|
NM_001164508.2(NEB):c.22418dup (p.Leu7473fs)
|
rs2084059565
|
|
NM_001164508.2(NEB):c.2241C>A (p.Thr747=)
|
rs2149102366
|
|
NM_001164508.2(NEB):c.2241C>T (p.Thr747=)
|
rs2149102366
|
|
NM_001164508.2(NEB):c.22424T>C (p.Met7475Thr)
|
|
|
NM_001164508.2(NEB):c.22431T>A (p.Gly7477=)
|
|
|
NM_001164508.2(NEB):c.22431T>C (p.Gly7477=)
|
|
|
NM_001164508.2(NEB):c.2243A>G (p.Lys748Arg)
|
|
|
NM_001164508.2(NEB):c.22440C>T (p.Asp7480=)
|
rs2153437562
|
|
NM_001164508.2(NEB):c.22447A>T (p.Met7483Leu)
|
|
|
NM_001164508.2(NEB):c.2244A>G (p.Lys748=)
|
rs2149102227
|
|
NM_001164508.2(NEB):c.22452C>A (p.Ala7484=)
|
rs766289411
|
|
NM_001164508.2(NEB):c.22456_22457delinsGC (p.Lys7486Ala)
|
|
|
NM_001164508.2(NEB):c.22458G>A (p.Lys7486=)
|
|
|
NM_001164508.2(NEB):c.22464C>G (p.Ala7488=)
|
rs2153437476
|
|
NM_001164508.2(NEB):c.22466A>G (p.Lys7489Arg)
|
rs2084038575
|
|
NM_001164508.2(NEB):c.22468C>T (p.Leu7490=)
|
|
|
NM_001164508.2(NEB):c.22470G>A (p.Leu7490=)
|
rs1345567872
|
|
NM_001164508.2(NEB):c.22476C>T (p.Ser7492=)
|
|
|
NM_001164508.2(NEB):c.22477C>T (p.Gln7493Ter)
|
|
|
NM_001164508.2(NEB):c.22479+10A>T
|
rs2153437271
|
|
NM_001164508.2(NEB):c.22479+11T>A
|
|
|
NM_001164508.2(NEB):c.22479+11dup
|
|
|
NM_001164508.2(NEB):c.22479+16G>A
|
|
|
NM_001164508.2(NEB):c.22479+16G>C
|
|
|
NM_001164508.2(NEB):c.22479+16G>T
|
|
|
NM_001164508.2(NEB):c.22479+16dup
|
|
|
NM_001164508.2(NEB):c.22479+19C>T
|
|
|
NM_001164508.2(NEB):c.22479+1G>C
|
rs1057515575
|
|
NM_001164508.2(NEB):c.22479+1del
|
rs1488066635
|
|
NM_001164508.2(NEB):c.22479+4A>C
|
|
|
NM_001164508.2(NEB):c.22480-11T>C
|
|
|
NM_001164508.2(NEB):c.22480-12A>G
|
|
|
NM_001164508.2(NEB):c.22480-16T>C
|
|
|
NM_001164508.2(NEB):c.22480-19T>C
|
|
|
NM_001164508.2(NEB):c.22480-1G>C
|
|
|
NM_001164508.2(NEB):c.22480-20A>T
|
|
|
NM_001164508.2(NEB):c.22480-5G>T
|
rs753985158
|
|
NM_001164508.2(NEB):c.22483A>T (p.Lys7495Ter)
|
|
|
NM_001164508.2(NEB):c.22485A>G (p.Lys7495=)
|
|
|
NM_001164508.2(NEB):c.22489C>A (p.Arg7497=)
|
|
|
NM_001164508.2(NEB):c.22490G>A (p.Arg7497Gln)
|
|
|
NM_001164508.2(NEB):c.22500C>A (p.Phe7500Leu)
|
|
|
NM_001164508.2(NEB):c.22500_22501del (p.Phe7500fs)
|
|
|
NM_001164508.2(NEB):c.22501G>T (p.Asp7501Tyr)
|
|
|
NM_001164508.2(NEB):c.22509A>G (p.Glu7503=)
|
rs1382948788
|
|
NM_001164508.2(NEB):c.2250G>T (p.Thr750=)
|
|
|
NM_001164508.2(NEB):c.22511del (p.Lys7504fs)
|
rs2080623161
|
|
NM_001164508.2(NEB):c.22512G>A (p.Lys7504=)
|
|
|
NM_001164508.2(NEB):c.22513G>A (p.Gly7505Ser)
|
|
|
NM_001164508.2(NEB):c.22520C>T (p.Thr7507Ile)
|
|
|
NM_001164508.2(NEB):c.22523C>T (p.Pro7508Leu)
|
rs780741468
|
|
NM_001164508.2(NEB):c.2252C>T (p.Ala751Val)
|
|
|
NM_001164508.2(NEB):c.22531A>G (p.Asn7511Asp)
|
rs2153396290
|
|
NM_001164508.2(NEB):c.22532A>C (p.Asn7511Thr)
|
|
|
NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg)
|
rs376609115
|
|
NM_001164508.2(NEB):c.22536A>G (p.Pro7512=)
|
rs2153396215
|
|
NM_001164508.2(NEB):c.2253A>G (p.Ala751=)
|
rs2149101806
|
|
NM_001164508.2(NEB):c.22548G>A (p.Gln7516=)
|
rs200776925
|
|
NM_001164508.2(NEB):c.22554C>T (p.Tyr7518=)
|
|
|
NM_001164508.2(NEB):c.22555A>G (p.Lys7519Glu)
|
rs2080605863
|
|
NM_001164508.2(NEB):c.22560C>T (p.Val7520=)
|
|
|
NM_001164508.2(NEB):c.22567G>C (p.Asp7523His)
|
rs2153395893
|
|
NM_001164508.2(NEB):c.22575T>C (p.Asn7525=)
|
|
|
NM_001164508.2(NEB):c.22590+7T>A
|
rs2153395506
|
|
NM_001164508.2(NEB):c.22591-10T>C
|
rs2153386698
|
|
NM_001164508.2(NEB):c.22591-11A>G
|
|
|
NM_001164508.2(NEB):c.22591-12C>T
|
|
|
NM_001164508.2(NEB):c.22591-12dup
|
|
|
NM_001164508.2(NEB):c.22591-14C>T
|
|
|
NM_001164508.2(NEB):c.22591-15C>T
|
|
|
NM_001164508.2(NEB):c.22591-17del
|
|
|
NM_001164508.2(NEB):c.22591-18T>C
|
|
|
NM_001164508.2(NEB):c.22591-3C>T
|
rs778824203
|
|
NM_001164508.2(NEB):c.22591-9A>G
|
|
|
NM_001164508.2(NEB):c.22595A>G (p.Lys7532Arg)
|
|
|
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
|
|
|
NM_001164508.2(NEB):c.22599C>T (p.Tyr7533=)
|
rs1279113627
|
|
NM_001164508.2(NEB):c.22609C>T (p.Leu7537=)
|
|
|
NM_001164508.2(NEB):c.22611G>A (p.Leu7537=)
|
rs2153386407
|
|
NM_001164508.2(NEB):c.22613A>T (p.Lys7538Met)
|
|
|
NM_001164508.2(NEB):c.22619T>C (p.Leu7540Pro)
|
|
|
NM_001164508.2(NEB):c.22622delinsTT (p.His7541fs)
|
|
|
NM_001164508.2(NEB):c.22629C>G (p.Pro7543=)
|
|
|
NM_001164508.2(NEB):c.22638C>T (p.Asp7546=)
|
rs372279388
|
|
NM_001164508.2(NEB):c.2263T>C (p.Ser755Pro)
|
|
|
NM_001164508.2(NEB):c.22641del (p.Met7547fs)
|
rs1057515573
|
|
NM_001164508.2(NEB):c.22642_22644del (p.Lys7548del)
|
rs1553629857
|
|
NM_001164508.2(NEB):c.22645G>T (p.Glu7549Ter)
|
rs2080077889
|
|
NM_001164508.2(NEB):c.2264C>G (p.Ser755Cys)
|
|
|
NM_001164508.2(NEB):c.2264C>T (p.Ser755Phe)
|
|
|
NM_001164508.2(NEB):c.22651C>T (p.Leu7551=)
|
|
|
NM_001164508.2(NEB):c.22651_22652del (p.Leu7551fs)
|
rs2153386052
|
|
NM_001164508.2(NEB):c.22652del (p.Leu7551fs)
|
|
|
NM_001164508.2(NEB):c.22653G>A (p.Leu7551=)
|
|
|
NM_001164508.2(NEB):c.22665T>C (p.His7555=)
|
rs1002497843
|
|
NM_001164508.2(NEB):c.22676C>T (p.Thr7559Ile)
|
rs2080067943
|
|
NM_001164508.2(NEB):c.22677A>C (p.Thr7559=)
|
rs778662915
|
|
NM_001164508.2(NEB):c.22677A>G (p.Thr7559=)
|
|
|
NM_001164508.2(NEB):c.22677A>T (p.Thr7559=)
|
rs778662915
|
|
NM_001164508.2(NEB):c.22683A>G (p.Gln7561=)
|
rs2153385875
|
|
NM_001164508.2(NEB):c.2268T>C (p.Pro756=)
|
|
|
NM_001164508.2(NEB):c.22690A>G (p.Ser7564Gly)
|
rs749222946
|
|
NM_001164508.2(NEB):c.22695+11T>C
|
|
|
NM_001164508.2(NEB):c.22695+13A>G
|
|
|
NM_001164508.2(NEB):c.22695+14T>C
|
|
|
NM_001164508.2(NEB):c.22695+18C>T
|
|
|
NM_001164508.2(NEB):c.22695+9A>C
|
rs2153385709
|
|
NM_001164508.2(NEB):c.22695+9A>G
|
|
|
NM_001164508.2(NEB):c.22696-11C>G
|
|
|
NM_001164508.2(NEB):c.22696-11C>T
|
|
|
NM_001164508.2(NEB):c.22696-12C>T
|
|
|
NM_001164508.2(NEB):c.22696-13G>A
|
|
|
NM_001164508.2(NEB):c.22696-14C>T
|
|
|
NM_001164508.2(NEB):c.22696-17T>C
|
|
|
NM_001164508.2(NEB):c.22696-19T>G
|
|
|
NM_001164508.2(NEB):c.22696-2A>C
|
|
|
NM_001164508.2(NEB):c.22698C>T (p.Tyr7566=)
|
rs1454465802
|
|
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del)
|
rs760161843
|
|
NM_001164508.2(NEB):c.22708A>T (p.Lys7570Ter)
|
|
|
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)
|
|
|
NM_001164508.2(NEB):c.2271A>G (p.Val757=)
|
|
|
NM_001164508.2(NEB):c.22728dup (p.Gly7577fs)
|
|
|
NM_001164508.2(NEB):c.2272C>A (p.Leu758Met)
|
rs866369010
|
|
NM_001164508.2(NEB):c.22732C>G (p.His7578Asp)
|
|
|
NM_001164508.2(NEB):c.22740C>T (p.His7580=)
|
rs769553483
|
|
NM_001164508.2(NEB):c.22747C>T (p.Pro7583Ser)
|
rs2153380639
|
|
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg)
|
rs1575897069
|
|
NM_001164508.2(NEB):c.22752T>C (p.Asp7584=)
|
rs2153380546
|
|
NM_001164508.2(NEB):c.22754A>C (p.Asn7585Thr)
|
|
|
NM_001164508.2(NEB):c.22761G>A (p.Glu7587=)
|
rs2153380494
|
|
NM_001164508.2(NEB):c.22770C>T (p.His7590=)
|
|
|
NM_001164508.2(NEB):c.22771C>A (p.Leu7591Ile)
|
|
|
NM_001164508.2(NEB):c.22776dup (p.Glu7593fs)
|
rs2079459982
|
|
NM_001164508.2(NEB):c.22779G>A (p.Glu7593=)
|
|
|
NM_001164508.2(NEB):c.22788A>G (p.Glu7596=)
|
|
|
NM_001164508.2(NEB):c.22789T>C (p.Leu7597=)
|
rs1303098129
|
|
NM_001164508.2(NEB):c.22792C>T (p.Gln7598Ter)
|
rs752267876
|
|
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
|
|
|
NM_001164508.2(NEB):c.22797T>C (p.Ser7599=)
|
rs2153380225
|
|
NM_001164508.2(NEB):c.22800+14G>A
|
rs2153380065
|
|
NM_001164508.2(NEB):c.22800+16C>T
|
|
|
NM_001164508.2(NEB):c.22800+17C>T
|
|
|
NM_001164508.2(NEB):c.22800+18G>A
|
|
|
NM_001164508.2(NEB):c.22800+18G>T
|
|
|
NM_001164508.2(NEB):c.22800+2T>G
|
rs1553627466
|
|
NM_001164508.2(NEB):c.22800+8G>A
|
|
|
NM_001164508.2(NEB):c.22801-19C>T
|
|
|
NM_001164508.2(NEB):c.22801-9T>C
|
rs2153355531
|
|
NM_001164508.2(NEB):c.22804A>T (p.Lys7602Ter)
|
|
|
NM_001164508.2(NEB):c.22812A>G (p.Lys7604=)
|
rs2153355196
|
|
NM_001164508.2(NEB):c.22812del (p.Glu7605fs)
|
rs2153355216
|
|
NM_001164508.2(NEB):c.22813G>A (p.Glu7605Lys)
|
|
|
NM_001164508.2(NEB):c.22813G>T (p.Glu7605Ter)
|
rs767967099
|
|
NM_001164508.2(NEB):c.22814_22818del (p.Glu7605fs)
|
|
|
NM_001164508.2(NEB):c.22815A>G (p.Glu7605=)
|
rs1156733550
|
|
NM_001164508.2(NEB):c.22824A>G (p.Glu7608=)
|
|
|
NM_001164508.2(NEB):c.22833A>G (p.Arg7611=)
|
|
|
NM_001164508.2(NEB):c.22841C>T (p.Pro7614Leu)
|
rs1182955893
|
|
NM_001164508.2(NEB):c.22844T>C (p.Met7615Thr)
|
|
|
NM_001164508.2(NEB):c.22846C>T (p.Leu7616=)
|
|
|
NM_001164508.2(NEB):c.22848G>A (p.Leu7616=)
|
|
|
NM_001164508.2(NEB):c.22860A>T (p.Thr7620=)
|
|
|
NM_001164508.2(NEB):c.22863A>G (p.Pro7621=)
|
|
|
NM_001164508.2(NEB):c.22865C>T (p.Thr7622Met)
|
|
|
NM_001164508.2(NEB):c.22866G>A (p.Thr7622=)
|
|
|
NM_001164508.2(NEB):c.22872C>T (p.Ile7624=)
|
rs1396527518
|
|
NM_001164508.2(NEB):c.22900A>G (p.Ser7634Gly)
|
|
|
NM_001164508.2(NEB):c.22905+13_22905+14dup
|
|
|
NM_001164508.2(NEB):c.22905+14dup
|
rs565867868
|
|
NM_001164508.2(NEB):c.22905+18C>T
|
|
|
NM_001164508.2(NEB):c.22905+19A>G
|
|
|
NM_001164508.2(NEB):c.22905+1del
|
rs771740564
|
|
NM_001164508.2(NEB):c.22905+20C>T
|
|
|
NM_001164508.2(NEB):c.22905+2dup
|
rs1553623381
|
|
NM_001164508.2(NEB):c.22905+7C>A
|
rs1426040506
|
|
NM_001164508.2(NEB):c.22905+7C>T
|
rs1426040506
|
|
NM_001164508.2(NEB):c.22905+8A>T
|
|
|
NM_001164508.2(NEB):c.22906-18C>T
|
|
|
NM_001164508.2(NEB):c.22906-19T>G
|
|
|
NM_001164508.2(NEB):c.22906-4T>A
|
rs2153321999
|
|
NM_001164508.2(NEB):c.22906-6_22906-2del
|
rs1014710501
|
|
NM_001164508.2(NEB):c.22910A>T (p.Glu7637Val)
|
|
|
NM_001164508.2(NEB):c.22912T>C (p.Tyr7638His)
|
|
|
NM_001164508.2(NEB):c.22914T>A (p.Tyr7638Ter)
|
|
|
NM_001164508.2(NEB):c.22914T>C (p.Tyr7638=)
|
rs1035343199
|
|
NM_001164508.2(NEB):c.22926T>C (p.Tyr7642=)
|
|
|
NM_001164508.2(NEB):c.22931del (p.Glu7644fs)
|
|
|
NM_001164508.2(NEB):c.22939A>T (p.Lys7647Ter)
|
|
|
NM_001164508.2(NEB):c.22940A>G (p.Lys7647Arg)
|
|
|
NM_001164508.2(NEB):c.2294C>T (p.Thr765Met)
|
|
|
NM_001164508.2(NEB):c.22950C>G (p.Asn7650Lys)
|
rs2153320948
|
|
NM_001164508.2(NEB):c.22956T>C (p.Thr7652=)
|
rs1367326036
|
|
NM_001164508.2(NEB):c.2295G>A (p.Thr765=)
|
rs1453312460
|
|
NM_001164508.2(NEB):c.22966del (p.Val7656fs)
|
rs2153320686
|
|
NM_001164508.2(NEB):c.22968C>G (p.Val7656=)
|
|
|
NM_001164508.2(NEB):c.22968C>T (p.Val7656=)
|
|
|
NM_001164508.2(NEB):c.22972C>T (p.Pro7658Ser)
|
|
|
NM_001164508.2(NEB):c.22980G>A (p.Leu7660=)
|
rs773457010
|
|
NM_001164508.2(NEB):c.22985A>G (p.His7662Arg)
|
|
|
NM_001164508.2(NEB):c.22991A>C (p.Lys7664Thr)
|
|
|
NM_001164508.2(NEB):c.2299C>T (p.Gln767Ter)
|
|
|
NM_001164508.2(NEB):c.23005A>C (p.Ile7669Leu)
|
|
|
NM_001164508.2(NEB):c.23006T>C (p.Ile7669Thr)
|
|
|
NM_001164508.2(NEB):c.23010A>T (p.Ala7670=)
|
rs2076734268
|
|
NM_001164508.2(NEB):c.23014G>A (p.Glu7672Lys)
|
|
|
NM_001164508.2(NEB):c.23016+17C>A
|
|
|
NM_001164508.2(NEB):c.23016+20_23016+21del
|
rs996064152
|
|
NM_001164508.2(NEB):c.23016+3A>G
|
rs1194138148
|
|
NM_001164508.2(NEB):c.23016+4G>A
|
|
|
NM_001164508.2(NEB):c.23016+7C>G
|
rs2153319397
|
|
NM_001164508.2(NEB):c.23017-10C>T
|
rs1575745888
|
|
NM_001164508.2(NEB):c.23017-3_23017del
|
|
|
NM_001164508.2(NEB):c.23017-4A>G
|
rs2153307515
|
|
NM_001164508.2(NEB):c.23017-5T>C
|
|
|
NM_001164508.2(NEB):c.23017-6A>T
|
|
|
NM_001164508.2(NEB):c.23017-7G>A
|
rs2076447388
|
|
NM_001164508.2(NEB):c.23020G>C (p.Glu7674Gln)
|
|
|
NM_001164508.2(NEB):c.23028G>C (p.Arg7676Ser)
|
|
|
NM_001164508.2(NEB):c.2302C>A (p.Leu768Ile)
|
|
|
NM_001164508.2(NEB):c.23031A>G (p.Lys7677=)
|
rs968522988
|
|
NM_001164508.2(NEB):c.23034T>A (p.Asp7678Glu)
|
|
|
NM_001164508.2(NEB):c.23034T>C (p.Asp7678=)
|
|
|
NM_001164508.2(NEB):c.23034T>G (p.Asp7678Glu)
|
|
|
NM_001164508.2(NEB):c.23049C>A (p.Ile7683=)
|
rs1205912884
|
|
NM_001164508.2(NEB):c.23050C>T (p.Arg7684Cys)
|
rs762019205
|
|
NM_001164508.2(NEB):c.23060G>A (p.Gly7687Asp)
|
|
|
NM_001164508.2(NEB):c.23060del (p.Gly7687fs)
|
|
|
NM_001164508.2(NEB):c.23064C>A (p.Leu7688=)
|
|
|
NM_001164508.2(NEB):c.23069_23072del (p.Glu7690fs)
|
|
|
NM_001164508.2(NEB):c.23081C>T (p.Thr7694Ile)
|
|
|
NM_001164508.2(NEB):c.23082A>C (p.Thr7694=)
|
rs2153304822
|
|
NM_001164508.2(NEB):c.23083C>T (p.Pro7695Ser)
|
|
|
NM_001164508.2(NEB):c.23088C>T (p.Asp7696=)
|
rs2153304583
|
|
NM_001164508.2(NEB):c.23094A>G (p.Leu7698=)
|
rs2076410485
|
|
NM_001164508.2(NEB):c.230A>G (p.Asp77Gly)
|
|
|
NM_001164508.2(NEB):c.2310+14T>C
|
|
|
NM_001164508.2(NEB):c.2310+17A>C
|
|
|
NM_001164508.2(NEB):c.2310+17A>G
|
|
|
NM_001164508.2(NEB):c.2310+17A>T
|
|
|
NM_001164508.2(NEB):c.2310+18T>G
|
|
|
NM_001164508.2(NEB):c.2310+2T>A
|
rs1553579092
|
|
NM_001164508.2(NEB):c.2310+2_2310+3delinsAC
|
|
|
NM_001164508.2(NEB):c.23100A>G (p.Ala7700=)
|
rs2076409232
|
|
NM_001164508.2(NEB):c.23102A>G (p.Lys7701Arg)
|
|
|
NM_001164508.2(NEB):c.23103G>A (p.Lys7701=)
|
|
|
NM_001164508.2(NEB):c.23105A>G (p.Asn7702Ser)
|
|
|
NM_001164508.2(NEB):c.23109C>T (p.Ala7703=)
|
rs1575743148
|
|
NM_001164508.2(NEB):c.2311-9_2311-8del
|
rs2148992222
|
|
NM_001164508.2(NEB):c.23112T>C (p.Thr7704=)
|
rs2153304031
|
|
NM_001164508.2(NEB):c.23127+10C>T
|
rs2153303571
|
|
NM_001164508.2(NEB):c.23127+13C>A
|
|
|
NM_001164508.2(NEB):c.23127+15G>A
|
|
|
NM_001164508.2(NEB):c.23127+1G>A
|
|
|
NM_001164508.2(NEB):c.23127+20C>T
|
|
|
NM_001164508.2(NEB):c.23127+2T>A
|
|
|
NM_001164508.2(NEB):c.23127+8C>T
|
|
|
NM_001164508.2(NEB):c.23128-16T>C
|
|
|
NM_001164508.2(NEB):c.23128-18del
|
rs1553616477
|
|
NM_001164508.2(NEB):c.23128-19del
|
|
|
NM_001164508.2(NEB):c.23128-19dup
|
rs369229042
|
|
NM_001164508.2(NEB):c.23128-1G>T
|
|
|
NM_001164508.2(NEB):c.23128-20_23128-19dup
|
|
|
NM_001164508.2(NEB):c.23128-4A>G
|
|
|
NM_001164508.2(NEB):c.23128-6C>T
|
rs2153276594
|
|
NM_001164508.2(NEB):c.23128-8T>G
|
|
|
NM_001164508.2(NEB):c.23133A>G (p.Glu7711=)
|
rs2153276564
|
|
NM_001164508.2(NEB):c.23134_23144del (p.Tyr7712fs)
|
rs2153276539
|
|
NM_001164508.2(NEB):c.23135A>G (p.Tyr7712Cys)
|
|
|
NM_001164508.2(NEB):c.2313G>A (p.Leu771=)
|
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
NM_001164508.2(NEB):c.23145C>T (p.Asp7715=)
|
rs1267175445
|
|
NM_001164508.2(NEB):c.23146C>A (p.Leu7716Met)
|
|
|
NM_001164508.2(NEB):c.23146C>T (p.Leu7716=)
|
rs376977065
|
|
NM_001164508.2(NEB):c.23148G>A (p.Leu7716=)
|
rs2076016686
|
|
NM_001164508.2(NEB):c.23152C>T (p.Leu7718=)
|
rs2153276514
|
|
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
|
|
|
NM_001164508.2(NEB):c.23162A>C (p.Lys7721Thr)
|
|
|
NM_001164508.2(NEB):c.23162_23165delinsCAGATGTGTAT (p.Lys7721fs)
|
|
|
NM_001164508.2(NEB):c.23163A>G (p.Lys7721=)
|
|
|
NM_001164508.2(NEB):c.23166A>C (p.Gly7722=)
|
rs1575713868
|
|
NM_001164508.2(NEB):c.23168G>A (p.Arg7723Lys)
|
rs947053462
|
|
NM_001164508.2(NEB):c.23172C>A (p.Gly7724=)
|
|
|
NM_001164508.2(NEB):c.23172C>G (p.Gly7724=)
|
|
|
NM_001164508.2(NEB):c.23173C>G (p.Leu7725Val)
|
|
|
NM_001164508.2(NEB):c.23173C>T (p.Leu7725=)
|
rs753855949
|
|
NM_001164508.2(NEB):c.23174_23187del (p.Leu7725fs)
|
|
|
NM_001164508.2(NEB):c.23175dup (p.Asn7726fs)
|
|
|
NM_001164508.2(NEB):c.23182A>G (p.Met7728Val)
|
|
|
NM_001164508.2(NEB):c.23186C>T (p.Ala7729Val)
|
rs1284612506
|
|
NM_001164508.2(NEB):c.23186delinsGAATCA (p.Ala7729fs)
|
|
|
NM_001164508.2(NEB):c.23190T>C (p.Asn7730=)
|
|
|
NM_001164508.2(NEB):c.23193A>G (p.Glu7731=)
|
rs1349733418
|
|
NM_001164508.2(NEB):c.23197_23205del (p.Pro7733_Phe7735del)
|
|
|
NM_001164508.2(NEB):c.231T>C (p.Asp77=)
|
|
|
NM_001164508.2(NEB):c.2320A>T (p.Lys774Ter)
|
|
|
NM_001164508.2(NEB):c.23210G>C (p.Arg7737Thr)
|
|
|
NM_001164508.2(NEB):c.23217G>A (p.Arg7739=)
|
rs2153276418
|
|
NM_001164508.2(NEB):c.23225C>G (p.Thr7742Ser)
|
|
|
NM_001164508.2(NEB):c.23230A>G (p.Ile7744Val)
|
rs2075994673
|
|
NM_001164508.2(NEB):c.23233G>T (p.Ala7745Ser)
|
rs1179461829
|
|
NM_001164508.2(NEB):c.23235C>G (p.Ala7745=)
|
|
|
NM_001164508.2(NEB):c.23241+14T>C
|
|
|
NM_001164508.2(NEB):c.23241+17G>A
|
|
|
NM_001164508.2(NEB):c.23241+18A>G
|
|
|
NM_001164508.2(NEB):c.23241+2T>A
|
rs1553615846
|
|
NM_001164508.2(NEB):c.23241+8C>T
|
rs2153276366
|
|
NM_001164508.2(NEB):c.23242-10T>C
|
rs2153274389
|
|
NM_001164508.2(NEB):c.23242-14G>A
|
|
|
NM_001164508.2(NEB):c.23242-15G>C
|
|
|
NM_001164508.2(NEB):c.23242-16C>T
|
|
|
NM_001164508.2(NEB):c.23242-2A>G
|
|
|
NM_001164508.2(NEB):c.23242-3C>G
|
rs2075506324
|
|
NM_001164508.2(NEB):c.23242-9G>A
|
|
|
NM_001164508.2(NEB):c.23242-9G>T
|
rs1328112461
|
|
NM_001164508.2(NEB):c.23242A>G (p.Ile7748Val)
|
rs767590150
|
|
NM_001164508.2(NEB):c.23247G>A (p.Lys7749=)
|
rs2153274047
|
|
NM_001164508.2(NEB):c.23250T>C (p.Tyr7750=)
|
rs1559411124
|
|
NM_001164508.2(NEB):c.23253G>A (p.Lys7751=)
|
rs1575685245
|
|
NM_001164508.2(NEB):c.23259A>G (p.Ser7753=)
|
rs2153273927
|
|
NM_001164508.2(NEB):c.23271G>A (p.Glu7757=)
|
|
|
NM_001164508.2(NEB):c.23283del (p.Phe7761fs)
|
|
|
NM_001164508.2(NEB):c.23288C>T (p.Ser7763Phe)
|
|
|
NM_001164508.2(NEB):c.23301T>C (p.Thr7767=)
|
rs2153273534
|
|
NM_001164508.2(NEB):c.23304A>C (p.Pro7768=)
|
|
|
NM_001164508.2(NEB):c.23310C>T (p.Ile7770=)
|
rs2153273450
|
|
NM_001164508.2(NEB):c.23314C>T (p.His7772Tyr)
|
rs2075487458
|
|
NM_001164508.2(NEB):c.23315A>G (p.His7772Arg)
|
rs776379234
|
|
NM_001164508.2(NEB):c.23316T>A (p.His7772Gln)
|
|
|
NM_001164508.2(NEB):c.2331T>C (p.His777=)
|
|
|
NM_001164508.2(NEB):c.23320C>T (p.Gln7774Ter)
|
|
|
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del)
|
rs1553614214
|
|
NM_001164508.2(NEB):c.23322A>G (p.Gln7774=)
|
rs746862475
|
|
NM_001164508.2(NEB):c.23328C>G (p.Val7776=)
|
rs930436261
|
|
NM_001164508.2(NEB):c.2332G>T (p.Glu778Ter)
|
|
|
NM_001164508.2(NEB):c.23338T>A (p.Ser7780Thr)
|
rs1553614160
|
|
NM_001164508.2(NEB):c.23341A>G (p.Ser7781Gly)
|
rs745794892
|
|
NM_001164508.2(NEB):c.23341A>T (p.Ser7781Cys)
|
|
|
NM_001164508.2(NEB):c.23344C>T (p.Gln7782Ter)
|
rs2153272667
|
|
NM_001164508.2(NEB):c.23346+10T>C
|
rs2153272094
|
|
NM_001164508.2(NEB):c.23346+12C>T
|
|
|
NM_001164508.2(NEB):c.23346+12dup
|
|
|
NM_001164508.2(NEB):c.23346+1G>A
|
|
|
NM_001164508.2(NEB):c.23346+2T>G
|
|
|
NM_001164508.2(NEB):c.23346+2dup
|
rs2153272570
|
|
NM_001164508.2(NEB):c.23346+8C>T
|
|
|
NM_001164508.2(NEB):c.23346+9A>T
|
rs2153272170
|
|
NM_001164508.2(NEB):c.23347-12dup
|
|
|
NM_001164508.2(NEB):c.23347-2A>G
|
|
|
NM_001164508.2(NEB):c.23347-6T>A
|
|
|
NM_001164508.2(NEB):c.23350A>G (p.Lys7784Glu)
|
rs2070773602
|
|
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs)
|
rs1559360386
|
|
NM_001164508.2(NEB):c.23352G>A (p.Lys7784=)
|
|
|
NM_001164508.2(NEB):c.23355C>T (p.Tyr7785=)
|
rs1575514028
|
|
NM_001164508.2(NEB):c.23363A>G (p.Asp7788Gly)
|
|
|
NM_001164508.2(NEB):c.23367T>C (p.Ala7789=)
|
rs775312412
|
|
NM_001164508.2(NEB):c.2336G>A (p.Gly779Asp)
|
|
|
NM_001164508.2(NEB):c.23378_23380del (p.Met7793_Ser7794delinsThr)
|
rs1553603652
|
|
NM_001164508.2(NEB):c.23378del (p.Met7793fs)
|
rs1553603690
|
|
NM_001164508.2(NEB):c.2337T>G (p.Gly779=)
|
|
|
NM_001164508.2(NEB):c.23382G>C (p.Ser7794=)
|
|
|
NM_001164508.2(NEB):c.23382G>T (p.Ser7794=)
|
rs770713773
|
|
NM_001164508.2(NEB):c.23385T>C (p.Tyr7795=)
|
|
|
NM_001164508.2(NEB):c.23385T>G (p.Tyr7795Ter)
|
rs2153218155
|
|
NM_001164508.2(NEB):c.23387del (p.Tyr7796fs)
|
|
|
NM_001164508.2(NEB):c.23388T>C (p.Tyr7796=)
|
|
|
NM_001164508.2(NEB):c.2338G>A (p.Glu780Lys)
|
|
|
NM_001164508.2(NEB):c.23395_23398dup (p.Leu7800fs)
|
rs1057515574
|
|
NM_001164508.2(NEB):c.23405C>A (p.Thr7802Asn)
|
rs780379101
|
|
NM_001164508.2(NEB):c.23405C>T (p.Thr7802Ile)
|
rs780379101
|
|
NM_001164508.2(NEB):c.23410G>A (p.Glu7804Lys)
|
|
|
NM_001164508.2(NEB):c.23415dup (p.Gln7806fs)
|
rs1553603438
|
|
NM_001164508.2(NEB):c.23418G>A (p.Gln7806=)
|
|
|
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs)
|
rs1553603400
|
|
NM_001164508.2(NEB):c.23424C>A (p.Val7808=)
|
rs2153217819
|
|
NM_001164508.2(NEB):c.23426G>A (p.Arg7809Gln)
|
|
|
NM_001164508.2(NEB):c.23430G>A (p.Glu7810=)
|
|
|
NM_001164508.2(NEB):c.23433C>A (p.Asn7811Lys)
|
|
|
NM_001164508.2(NEB):c.23433C>T (p.Asn7811=)
|
rs760128419
|
|
NM_001164508.2(NEB):c.23436A>G (p.Gln7812=)
|
|
|
NM_001164508.2(NEB):c.23445C>T (p.Phe7815=)
|
|
|
NM_001164508.2(NEB):c.23449dup (p.Leu7817fs)
|
|
|
NM_001164508.2(NEB):c.23451+10del
|
rs1338093963
|
|
NM_001164508.2(NEB):c.23451+12T>C
|
|
|
NM_001164508.2(NEB):c.23451+18G>A
|
|
|
NM_001164508.2(NEB):c.23451+1G>A
|
|
|
NM_001164508.2(NEB):c.23451+1G>C
|
rs1011425121
|
|
NM_001164508.2(NEB):c.23452-11T>A
|
|
|
NM_001164508.2(NEB):c.23452-12C>A
|
|
|
NM_001164508.2(NEB):c.23452-12C>T
|
|
|
NM_001164508.2(NEB):c.23452-13T>G
|
|
|
NM_001164508.2(NEB):c.23452-13TCTT[3]
|
|
|
NM_001164508.2(NEB):c.23452-17T>C
|
|
|
NM_001164508.2(NEB):c.23452-1G>C
|
|
|
NM_001164508.2(NEB):c.23452-20T>A
|
|
|
NM_001164508.2(NEB):c.23452-20T>C
|
|
|
NM_001164508.2(NEB):c.23457dup (p.Tyr7820fs)
|
|
|
NM_001164508.2(NEB):c.23461C>T (p.Gln7821Ter)
|
|
|
NM_001164508.2(NEB):c.23470C>A (p.Leu7824Ile)
|
|
|
NM_001164508.2(NEB):c.23476_23479dup (p.Ser7827fs)
|
|
|
NM_001164508.2(NEB):c.23480G>A (p.Ser7827Asn)
|
|
|
NM_001164508.2(NEB):c.23482A>G (p.Lys7828Glu)
|
|
|
NM_001164508.2(NEB):c.2348A>G (p.Lys783Arg)
|
rs2099519230
|
|
NM_001164508.2(NEB):c.23494dup (p.Thr7832fs)
|
|
|
NM_001164508.2(NEB):c.23495_23496del (p.Thr7832fs)
|
|
|
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs)
|
rs762780413
|
|
NM_001164508.2(NEB):c.23497GTT[1] (p.Val7834del)
|
rs1553601408
|
|
NM_001164508.2(NEB):c.23498_23499insA (p.Val7834fs)
|
|
|
NM_001164508.2(NEB):c.2349G>A (p.Lys783=)
|
|
|
NM_001164508.2(NEB):c.23500G>T (p.Val7834Phe)
|
rs1553601424
|
|
NM_001164508.2(NEB):c.23500_23501del (p.Val7834fs)
|
|
|
NM_001164508.2(NEB):c.23502_23503del (p.Gln7835fs)
|
|
|
NM_001164508.2(NEB):c.23505del (p.Asp7836fs)
|
rs2153196376
|
|
NM_001164508.2(NEB):c.23508C>T (p.Asp7836=)
|
rs2153196327
|
|
NM_001164508.2(NEB):c.23514A>G (p.Pro7838=)
|
rs1575473569
|
|
NM_001164508.2(NEB):c.23517A>G (p.Glu7839=)
|
|
|
NM_001164508.2(NEB):c.23521C>T (p.Leu7841=)
|
rs759103372
|
|
NM_001164508.2(NEB):c.23524C>A (p.Arg7842Ser)
|
rs184516994
|
|
NM_001164508.2(NEB):c.23529A>G (p.Val7843=)
|
|
|
NM_001164508.2(NEB):c.2352C>T (p.Cys784=)
|
|
|
NM_001164508.2(NEB):c.23539C>T (p.Gln7847Ter)
|
|
|
NM_001164508.2(NEB):c.2353C>A (p.His785Asn)
|
rs2099519209
|
|
NM_001164508.2(NEB):c.23551del (p.Ser7851fs)
|
|
|
NM_001164508.2(NEB):c.23556+12A>G
|
|
|
NM_001164508.2(NEB):c.23556+13T>C
|
|
|
NM_001164508.2(NEB):c.23556+15T>C
|
|
|
NM_001164508.2(NEB):c.23556+16_23556+19del
|
|
|
NM_001164508.2(NEB):c.23556+18T>A
|
|
|
NM_001164508.2(NEB):c.23556+19_23556+20insTATAGTATATTTACTAGG
|
|
|
NM_001164508.2(NEB):c.23556+1G>T
|
rs2153195911
|
|
NM_001164508.2(NEB):c.23556+2T>A
|
|
|
NM_001164508.2(NEB):c.23556G>A (p.Ser7852=)
|
|
|
NM_001164508.2(NEB):c.23557-12C>T
|
|
|
NM_001164508.2(NEB):c.23557-15A>G
|
|
|
NM_001164508.2(NEB):c.23557-16G>A
|
|
|
NM_001164508.2(NEB):c.23557-16_23557-13dup
|
|
|
NM_001164508.2(NEB):c.23557-4C>A
|
|
|
NM_001164508.2(NEB):c.23557-5C>T
|
|
|
NM_001164508.2(NEB):c.23557-6G>A
|
|
|
NM_001164508.2(NEB):c.23565T>C (p.Tyr7855=)
|
rs752269554
|
|
NM_001164508.2(NEB):c.23576T>A (p.Val7859Asp)
|
|
|
NM_001164508.2(NEB):c.23577C>T (p.Val7859=)
|
|
|
NM_001164508.2(NEB):c.23588C>T (p.Thr7863Met)
|
|
|
NM_001164508.2(NEB):c.2358A>G (p.Ile786Met)
|
|
|
NM_001164508.2(NEB):c.23592T>C (p.Ala7864=)
|
|
|
NM_001164508.2(NEB):c.23595C>A (p.Ile7865=)
|
rs370825760
|
|
NM_001164508.2(NEB):c.23607T>C (p.Pro7869=)
|
|
|
NM_001164508.2(NEB):c.23609A>T (p.Glu7870Val)
|
rs1454960791
|
|
NM_001164508.2(NEB):c.2361A>C (p.Pro787=)
|
|
|
NM_001164508.2(NEB):c.23622G>A (p.Val7874=)
|
rs2153187102
|
|
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)
|
rs537560378
|
|
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs)
|
rs1161478770
|
|
NM_001164508.2(NEB):c.23637C>T (p.Asp7879=)
|
rs374029795
|
|
NM_001164508.2(NEB):c.23638_23640del (p.His7880del)
|
rs1553598770
|
|
NM_001164508.2(NEB):c.23643T>C (p.Ile7881=)
|
|
|
NM_001164508.2(NEB):c.23647T>C (p.Ser7883Pro)
|
|
|
NM_001164508.2(NEB):c.23648C>G (p.Ser7883Trp)
|
rs202191938
|
|
NM_001164508.2(NEB):c.23649+10_23649+11del
|
rs772001300
|
|
NM_001164508.2(NEB):c.23649+12G>C
|
|
|
NM_001164508.2(NEB):c.23649+18G>A
|
|
|
NM_001164508.2(NEB):c.23649+19C>G
|
|
|
NM_001164508.2(NEB):c.23649+9A>C
|
rs2153186603
|
|
NM_001164508.2(NEB):c.23650-10A>C
|
rs2153172348
|
|
NM_001164508.2(NEB):c.23650-15T>C
|
|
|
NM_001164508.2(NEB):c.23650-16A>C
|
|
|
NM_001164508.2(NEB):c.23650-1G>A
|
rs2153172016
|
|
NM_001164508.2(NEB):c.23650-21_23650-20dup
|
|
|
NM_001164508.2(NEB):c.23650-2A>T
|
|
|
NM_001164508.2(NEB):c.23650-7T>C
|
rs771206029
|
|
NM_001164508.2(NEB):c.23650-7_23650-6delinsAT
|
rs1575422447
|
|
NM_001164508.2(NEB):c.23652G>A (p.Val7884=)
|
|
|
NM_001164508.2(NEB):c.23652G>C (p.Val7884=)
|
|
|
NM_001164508.2(NEB):c.23658T>C (p.Tyr7886=)
|
rs2153171876
|
|
NM_001164508.2(NEB):c.23660del (p.Lys7887fs)
|
|
|
NM_001164508.2(NEB):c.23662G>A (p.Glu7888Lys)
|
|
|
NM_001164508.2(NEB):c.23667A>C (p.Ala7889=)
|
rs2153171655
|
|
NM_001164508.2(NEB):c.23667A>G (p.Ala7889=)
|
rs2153171655
|
|
NM_001164508.2(NEB):c.23669T>C (p.Ile7890Thr)
|
|
|
NM_001164508.2(NEB):c.23682T>G (p.Thr7894=)
|
|
|
NM_001164508.2(NEB):c.2368_2370dup (p.Ala790dup)
|
rs2148990366
|
|
NM_001164508.2(NEB):c.23691T>G (p.Pro7897=)
|
|
|
NM_001164508.2(NEB):c.23695C>T (p.Leu7899=)
|
rs1403586555
|
|
NM_001164508.2(NEB):c.23705T>C (p.Val7902Ala)
|
|
|
NM_001164508.2(NEB):c.23709A>G (p.Lys7903=)
|
rs2153171101
|
|
NM_001164508.2(NEB):c.2370T>C (p.Ala790=)
|
|
|
NM_001164508.2(NEB):c.23711G>A (p.Arg7904His)
|
|
|
NM_001164508.2(NEB):c.23711del (p.Arg7904fs)
|
|
|
NM_001164508.2(NEB):c.23712T>C (p.Arg7904=)
|
|
|
NM_001164508.2(NEB):c.23713G>A (p.Val7905Met)
|
|
|
NM_001164508.2(NEB):c.23715G>A (p.Val7905=)
|
|
|
NM_001164508.2(NEB):c.23721G>A (p.Glu7907=)
|
rs1575420606
|
|
NM_001164508.2(NEB):c.23723C>T (p.Thr7908Met)
|
|
|
NM_001164508.2(NEB):c.23731C>A (p.His7911Asn)
|
|
|
NM_001164508.2(NEB):c.23733C>T (p.His7911=)
|
|
|
NM_001164508.2(NEB):c.23739C>T (p.Ser7913=)
|
|
|
NM_001164508.2(NEB):c.23741C>T (p.Ser7914Leu)
|
|
|
NM_001164508.2(NEB):c.23742+10A>G
|
rs2153170023
|
|
NM_001164508.2(NEB):c.23742+15C>T
|
|
|
NM_001164508.2(NEB):c.23742+16T>G
|
|
|
NM_001164508.2(NEB):c.23742+1G>A
|
|
|
NM_001164508.2(NEB):c.23742+8C>G
|
rs1575419282
|
|
NM_001164508.2(NEB):c.23742+8C>T
|
rs1575419282
|
|
NM_001164508.2(NEB):c.23742+9_23742+17del
|
|
|
NM_001164508.2(NEB):c.23742G>A (p.Ser7914=)
|
|
|
NM_001164508.2(NEB):c.23743-14_23743-11dup
|
|
|
NM_001164508.2(NEB):c.23743-16T>C
|
|
|
NM_001164508.2(NEB):c.23743-1G>C
|
rs797045098
|
|
NM_001164508.2(NEB):c.23743-4A>G
|
|
|
NM_001164508.2(NEB):c.23743-8_23743-7dup
|
|
|
NM_001164508.2(NEB):c.23743G>A (p.Val7915Ile)
|
rs767404419
|
|
NM_001164508.2(NEB):c.23746_23747dup (p.Met7916fs)
|
rs2153115303
|
|
NM_001164508.2(NEB):c.23752A>G (p.Lys7918Glu)
|
rs758478063
|
|
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup)
|
rs778176240
|
|
NM_001164508.2(NEB):c.23761T>C (p.Leu7921=)
|
|
|
NM_001164508.2(NEB):c.23765G>A (p.Gly7922Glu)
|
|
|
NM_001164508.2(NEB):c.2376G>A (p.Gln792=)
|
|
|
NM_001164508.2(NEB):c.23773A>G (p.Ile7925Val)
|
rs1322894219
|
|
NM_001164508.2(NEB):c.23781C>T (p.Thr7927=)
|
rs924084939
|
|
NM_001164508.2(NEB):c.23784T>C (p.Thr7928=)
|
rs1334542380
|
|
NM_001164508.2(NEB):c.23786_23787del (p.Val7929fs)
|
|
|
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs)
|
rs756612643
|
|
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr)
|
rs140967744
|
|
NM_001164508.2(NEB):c.23802G>C (p.Glu7934Asp)
|
|
|
NM_001164508.2(NEB):c.23803_23806del (p.Arg7935fs)
|
|
|
NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs)
|
rs753192734
|
|
NM_001164508.2(NEB):c.23827T>C (p.Phe7943Leu)
|
|
|
NM_001164508.2(NEB):c.23829T>C (p.Phe7943=)
|
rs1575331983
|
|
NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter)
|
rs755970391
|
|
NM_001164508.2(NEB):c.23834C>T (p.Ser7945Leu)
|
|
|
NM_001164508.2(NEB):c.23835+11A>G
|
|
|
NM_001164508.2(NEB):c.23835+14T>C
|
|
|
NM_001164508.2(NEB):c.23835+17C>T
|
|
|
NM_001164508.2(NEB):c.23835+1G>A
|
rs781120931
|
|
NM_001164508.2(NEB):c.23835+20A>G
|
rs2066191302
|
|
NM_001164508.2(NEB):c.23835+2T>C
|
|
|
NM_001164508.2(NEB):c.23835G>A (p.Ser7945=)
|
|
|
NM_001164508.2(NEB):c.23836-10T>C
|
rs76591052
|
|
NM_001164508.2(NEB):c.23836-11G>T
|
|
|
NM_001164508.2(NEB):c.23836-14C>T
|
|
|
NM_001164508.2(NEB):c.23836-15T>C
|
|
|
NM_001164508.2(NEB):c.23836-19A>G
|
|
|
NM_001164508.2(NEB):c.23836-19A>T
|
|
|
NM_001164508.2(NEB):c.23836-1G>A
|
|
|
NM_001164508.2(NEB):c.23836-2A>G
|
rs2153104173
|
|
NM_001164508.2(NEB):c.23836-5C>G
|
rs1559296915
|
|
NM_001164508.2(NEB):c.23836-9_23836-6dup
|
rs773113491
|
|
NM_001164508.2(NEB):c.23847A>G (p.Lys7949=)
|
|
|
NM_001164508.2(NEB):c.23847del (p.Glu7950fs)
|
rs1575305566
|
|
NM_001164508.2(NEB):c.23848_23850del (p.Glu7950del)
|
rs1553576655
|
|
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs)
|
rs1559296376
|
|
NM_001164508.2(NEB):c.2384A>G (p.Gln795Arg)
|
|
|
NM_001164508.2(NEB):c.23856G>C (p.Leu7952Phe)
|
|
|
NM_001164508.2(NEB):c.23859G>A (p.Gly7953=)
|
|
|
NM_001164508.2(NEB):c.2385del (p.Gln795fs)
|
rs1553568167
|
|
NM_001164508.2(NEB):c.23862A>G (p.Lys7954=)
|
rs753799779
|
|
NM_001164508.2(NEB):c.23867T>C (p.Ile7956Thr)
|
rs933996254
|
|
NM_001164508.2(NEB):c.23869_23870delinsTA (p.Pro7957Ter)
|
|
|
NM_001164508.2(NEB):c.23871A>G (p.Pro7957=)
|
rs922619160
|
|
NM_001164508.2(NEB):c.23872A>C (p.Thr7958Pro)
|
|
|
NM_001164508.2(NEB):c.23872_23874dup (p.Thr7958dup)
|
rs764993333
|
|
NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)
|
|
|
NM_001164508.2(NEB):c.23886A>G (p.Pro7962=)
|
|
|
NM_001164508.2(NEB):c.23889G>A (p.Glu7963=)
|
rs975397268
|
|
NM_001164508.2(NEB):c.23889G>C (p.Glu7963Asp)
|
rs975397268
|
|
NM_001164508.2(NEB):c.23889G>T (p.Glu7963Asp)
|
|
|
NM_001164508.2(NEB):c.2388C>T (p.His796=)
|
rs2148989447
|
|
NM_001164508.2(NEB):c.2388_2389del (p.His796fs)
|
|
|
NM_001164508.2(NEB):c.23895G>A (p.Glu7965=)
|
rs1229640938
|
|
NM_001164508.2(NEB):c.23896_23899del (p.Arg7966fs)
|
rs2153102752
|
|
NM_001164508.2(NEB):c.23898A>G (p.Arg7966=)
|
rs2153102784
|
|
NM_001164508.2(NEB):c.2390G>T (p.Arg797Ile)
|
|
|
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs)
|
rs761694639
|
|
NM_001164508.2(NEB):c.23916G>A (p.Glu7972=)
|
|
|
NM_001164508.2(NEB):c.23916G>C (p.Glu7972Asp)
|
|
|
NM_001164508.2(NEB):c.2391A>G (p.Arg797=)
|
rs1031672649
|
|
NM_001164508.2(NEB):c.2391_2392del (p.Arg797fs)
|
rs1057516938
|
|
NM_001164508.2(NEB):c.23926T>A (p.Ser7976Thr)
|
rs2065743787
|
|
NM_001164508.2(NEB):c.23928+15G>T
|
|
|
NM_001164508.2(NEB):c.23928+18A>G
|
|
|
NM_001164508.2(NEB):c.23928+6_23928+9dup
|
rs776388006
|
|
NM_001164508.2(NEB):c.23928+8T>C
|
|
|
NM_001164508.2(NEB):c.23929-12_23929-11del
|
|
|
NM_001164508.2(NEB):c.23929-1G>C
|
rs2153074006
|
|
NM_001164508.2(NEB):c.23929-1_23930dup
|
rs1427250696
|
|
NM_001164508.2(NEB):c.23929-20_23929-17del
|
|
|
NM_001164508.2(NEB):c.23929-2A>C
|
rs1553569122
|
|
NM_001164508.2(NEB):c.23929-7CA[2]
|
rs1217738625
|
|
NM_001164508.2(NEB):c.23929-8G>A
|
rs1329790084
|
|
NM_001164508.2(NEB):c.23937C>A (p.Tyr7979Ter)
|
|
|
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)
|
rs779173742
|
|
NM_001164508.2(NEB):c.23939_23942dup (p.Asn7982fs)
|
rs2153073575
|
|
NM_001164508.2(NEB):c.23949G>C (p.Leu7983Phe)
|
rs2153073370
|
|
NM_001164508.2(NEB):c.23953A>G (p.Lys7985Glu)
|
|
|
NM_001164508.2(NEB):c.23955G>C (p.Lys7985Asn)
|
rs1189932875
|
|
NM_001164508.2(NEB):c.23957G>C (p.Gly7986Ala)
|
rs2064473141
|
|
NM_001164508.2(NEB):c.23959A>C (p.Thr7987Pro)
|
|
|
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)
|
rs756384471
|
|
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs)
|
rs2064466448
|
|
NM_001164508.2(NEB):c.23971_23974dup (p.Thr7992fs)
|
|
|
NM_001164508.2(NEB):c.23984T>A (p.Met7995Lys)
|
|
|
NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr)
|
rs1064796521
|
|
NM_001164508.2(NEB):c.23990G>A (p.Arg7997Gln)
|
|
|
NM_001164508.2(NEB):c.23992G>A (p.Val7998Ile)
|
|
|
NM_001164508.2(NEB):c.23998_24001del (p.Leu8000fs)
|
rs748550315
|
|
NM_001164508.2(NEB):c.23998_24001dup (p.Asn8001fs)
|
rs748550315
|
|
NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs)
|
rs2064439011
|
|
NM_001164508.2(NEB):c.23AGG[1] (p.Glu9del)
|
rs1553711235
|
|
NM_001164508.2(NEB):c.24003_24006del (p.Asn8001fs)
|
rs1553568447
|
|
NM_001164508.2(NEB):c.24003_24006dup (p.Glu8003fs)
|
rs1553568447
|
|
NM_001164508.2(NEB):c.24004C>T (p.Gln8002Ter)
|
rs2153072192
|
|
NM_001164508.2(NEB):c.24012C>T (p.Asn8004=)
|
rs2153071991
|
|
NM_001164508.2(NEB):c.24012_24014dup (p.Phe8005dup)
|
rs1553568381
|
|
NM_001164508.2(NEB):c.24014T>G (p.Phe8005Cys)
|
|
|
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)
|
rs1553568357
|
|
NM_001164508.2(NEB):c.24015T>C (p.Phe8005=)
|
rs2153071781
|
|
NM_001164508.2(NEB):c.24016A>G (p.Ser8006Gly)
|
|
|
NM_001164508.2(NEB):c.24018C>T (p.Ser8006=)
|
rs2153071679
|
|
NM_001164508.2(NEB):c.24020C>A (p.Ser8007Ter)
|
|
|
NM_001164508.2(NEB):c.24021+12A>C
|
|
|
NM_001164508.2(NEB):c.24021+12A>G
|
|
|
NM_001164508.2(NEB):c.24021+14A>C
|
|
|
NM_001164508.2(NEB):c.24021+15G>A
|
|
|
NM_001164508.2(NEB):c.24022-10T>G
|
|
|
NM_001164508.2(NEB):c.24022-11G>T
|
|
|
NM_001164508.2(NEB):c.24022-19G>A
|
|
|
NM_001164508.2(NEB):c.24022-1G>A
|
rs1553561697
|
|
NM_001164508.2(NEB):c.24022-1_24029del
|
rs1423137705
|
|
NM_001164508.2(NEB):c.24022-9_24022-8del
|
|
|
NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs)
|
rs1553561665
|
|
NM_001164508.2(NEB):c.24024G>A (p.Val8008=)
|
rs2062732152
|
|
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)
|
rs772009599
|
|
NM_001164508.2(NEB):c.24025T>C (p.Leu8009=)
|
|
|
NM_001164508.2(NEB):c.24027G>A (p.Leu8009=)
|
rs2153022914
|
|
NM_001164508.2(NEB):c.24028T>C (p.Tyr8010His)
|
rs555681348
|
|
NM_001164508.2(NEB):c.24029A>G (p.Tyr8010Cys)
|
|
|
NM_001164508.2(NEB):c.2402A>G (p.Tyr801Cys)
|
|
|
NM_001164508.2(NEB):c.24033A>G (p.Lys8011=)
|
|
|
NM_001164508.2(NEB):c.24034G>C (p.Glu8012Gln)
|
|
|
NM_001164508.2(NEB):c.24038del (p.Asn8013fs)
|
|
|
NM_001164508.2(NEB):c.24039del (p.Asn8013fs)
|
rs1553561525
|
|
NM_001164508.2(NEB):c.24045A>C (p.Gly8015=)
|
|
|
NM_001164508.2(NEB):c.24046A>T (p.Lys8016Ter)
|
|
|
NM_001164508.2(NEB):c.24048A>G (p.Lys8016=)
|
rs2153022018
|
|
NM_001164508.2(NEB):c.24060C>T (p.Ile8020=)
|
rs2062699853
|
|
NM_001164508.2(NEB):c.24063C>T (p.Pro8021=)
|
|
|
NM_001164508.2(NEB):c.24066C>T (p.Ile8022=)
|
|
|
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala)
|
rs1323764871
|
|
NM_001164508.2(NEB):c.24071C>G (p.Pro8024Arg)
|
rs2153021543
|
|
NM_001164508.2(NEB):c.24072dup (p.Glu8025fs)
|
|
|
NM_001164508.2(NEB):c.24075G>A (p.Glu8025=)
|
|
|
NM_001164508.2(NEB):c.24077_24084del (p.Met8026fs)
|
rs2153021199
|
|
NM_001164508.2(NEB):c.24078G>A (p.Met8026Ile)
|
|
|
NM_001164508.2(NEB):c.2407C>T (p.Leu803=)
|
rs2148988737
|
|
NM_001164508.2(NEB):c.24082A>C (p.Arg8028=)
|
|
|
NM_001164508.2(NEB):c.24082A>G (p.Arg8028Gly)
|
rs2062685891
|
|
NM_001164508.2(NEB):c.24084_24085del (p.Arg8028fs)
|
|
|
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)
|
rs2153020985
|
|
NM_001164508.2(NEB):c.24093C>T (p.His8031=)
|
|
|
NM_001164508.2(NEB):c.24095A>G (p.Asn8032Ser)
|
rs946188918
|
|
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)
|
rs1553561211
|
|
NM_001164508.2(NEB):c.24106T>C (p.Phe8036Leu)
|
|
|
NM_001164508.2(NEB):c.24107T>G (p.Phe8036Cys)
|
|
|
NM_001164508.2(NEB):c.24111T>C (p.Ser8037=)
|
rs2153020511
|
|
NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu)
|
rs1458048713
|
|
NM_001164508.2(NEB):c.24114+11dup
|
|
|
NM_001164508.2(NEB):c.24114+12T>A
|
|
|
NM_001164508.2(NEB):c.24114+12_24114+17del
|
|
|
NM_001164508.2(NEB):c.24114+17A>T
|
|
|
NM_001164508.2(NEB):c.24114+18A>T
|
|
|
NM_001164508.2(NEB):c.24114+18dup
|
|
|
NM_001164508.2(NEB):c.24114+1G>C
|
|
|
NM_001164508.2(NEB):c.24114+20C>T
|
|
|
NM_001164508.2(NEB):c.24114+4_24114+7dup
|
rs1427403460
|
|
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=)
|
rs781581005
|
|
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=)
|
rs781581005
|
|
NM_001164508.2(NEB):c.24115-151C>A
|
rs1575076895
|
|
NM_001164508.2(NEB):c.24115-16C>T
|
|
|
NM_001164508.2(NEB):c.24115-1G>A
|
|
|
NM_001164508.2(NEB):c.24115-2A>G
|
rs2152992966
|
|
NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs)
|
rs1553556275
|
|
NM_001164508.2(NEB):c.24130_24131insGC (p.Asn8044fs)
|
|
|
NM_001164508.2(NEB):c.24132C>T (p.Asn8044=)
|
rs1449906853
|
|
NM_001164508.2(NEB):c.24134T>G (p.Leu8045Arg)
|
|
|
NM_001164508.2(NEB):c.24136G>A (p.Gly8046Arg)
|
|
|
NM_001164508.2(NEB):c.24138G>A (p.Gly8046=)
|
|
|
NM_001164508.2(NEB):c.24141A>C (p.Thr8047=)
|
rs2152992611
|
|
NM_001164508.2(NEB):c.24143del (p.Gly8048fs)
|
rs1553556154
|
|
NM_001164508.2(NEB):c.24144A>G (p.Gly8048=)
|
|
|
NM_001164508.2(NEB):c.2415+15C>T
|
|
|
NM_001164508.2(NEB):c.2415+18A>G
|
|
|
NM_001164508.2(NEB):c.2415+1G>A
|
rs1057524581
|
|
NM_001164508.2(NEB):c.2415+20A>T
|
|
|
NM_001164508.2(NEB):c.2415+2dup
|
rs1553567814
|
|
NM_001164508.2(NEB):c.2415+6T>C
|
rs760614044
|
|
NM_001164508.2(NEB):c.2415+8C>T
|
|
|
NM_001164508.2(NEB):c.24157A>G (p.Ile8053Val)
|
|
|
NM_001164508.2(NEB):c.24158T>C (p.Ile8053Thr)
|
rs2061739053
|
|
NM_001164508.2(NEB):c.2416-15A>T
|
rs753394142
|
|
NM_001164508.2(NEB):c.2416-1G>C
|
rs1553565278
|
|
NM_001164508.2(NEB):c.2416-7T>C
|
rs2148960853
|
|
NM_001164508.2(NEB):c.2416-8T>C
|
rs2148960985
|
|
NM_001164508.2(NEB):c.2416-9C>A
|
|
|
NM_001164508.2(NEB):c.24173A>G (p.Gln8058Arg)
|
|
|
NM_001164508.2(NEB):c.24175A>G (p.Arg8059Gly)
|
|
|
NM_001164508.2(NEB):c.24175_24178dup (p.Val8060fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)
|
rs2061721973
|
|
NM_001164508.2(NEB):c.24177A>G (p.Arg8059=)
|
rs1030563077
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.24180C>T (p.Val8060=)
|
rs2152991734
|
|
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs)
|
rs2152991690
|
|
NM_001164508.2(NEB):c.24186C>T (p.His8062=)
|
|
|
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)
|
rs1553555882
|
|
NM_001164508.2(NEB):c.24192A>G (p.Gln8064=)
|
|
|
NM_001164508.2(NEB):c.24201T>C (p.Leu8067=)
|
rs2152991428
|
|
NM_001164508.2(NEB):c.24206C>A (p.Ser8069Ter)
|
rs1037388276
|
|
NM_001164508.2(NEB):c.24206C>T (p.Ser8069Leu)
|
|
|
NM_001164508.2(NEB):c.24207+12_24207+16dup
|
rs1559228786
|
|
NM_001164508.2(NEB):c.24207+13G>C
|
|
|
NM_001164508.2(NEB):c.24207+13G>T
|
|
|
NM_001164508.2(NEB):c.24207+15_24207+16del
|
|
|
NM_001164508.2(NEB):c.24207+16A>C
|
|
|
NM_001164508.2(NEB):c.24207+17G>A
|
|
|
NM_001164508.2(NEB):c.24207+2T>C
|
rs1553555768
|
|
NM_001164508.2(NEB):c.24207+3_24207+6dup
|
|
|
NM_001164508.2(NEB):c.24207+7T>G
|
rs2152990979
|
|
NM_001164508.2(NEB):c.24207+8G>C
|
rs756766749
|
|
NM_001164508.2(NEB):c.24208-12C>T
|
|
|
NM_001164508.2(NEB):c.24208-15T>C
|
|
|
NM_001164508.2(NEB):c.24208-20G>A
|
|
|
NM_001164508.2(NEB):c.24208-4A>G
|
|
|
NM_001164508.2(NEB):c.24208-6G>A
|
|
|
NM_001164508.2(NEB):c.24208-7C>A
|
rs113048349
|
|
NM_001164508.2(NEB):c.24208-7_24208-6insTAA
|
|
|
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)
|
rs1553552384
|
|
NM_001164508.2(NEB):c.24225C>T (p.Asn8075=)
|
rs2152974722
|
|
NM_001164508.2(NEB):c.24238dup (p.Thr8080fs)
|
rs1575024425
|
|
NM_001164508.2(NEB):c.24240C>G (p.Thr8080=)
|
|
|
NM_001164508.2(NEB):c.24243T>C (p.Pro8081=)
|
|
|
NM_001164508.2(NEB):c.24243T>G (p.Pro8081=)
|
rs2152974067
|
|
NM_001164508.2(NEB):c.24244T>C (p.Leu8082=)
|
rs1449585285
|
|
NM_001164508.2(NEB):c.24245T>A (p.Leu8082Ter)
|
rs1559218052
|
|
NM_001164508.2(NEB):c.24249T>C (p.Pro8083=)
|
|
|
NM_001164508.2(NEB):c.2424T>C (p.Tyr808=)
|
|
|
NM_001164508.2(NEB):c.2425A>T (p.Lys809Ter)
|
|
|
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup)
|
rs769252768
|
|
NM_001164508.2(NEB):c.24267A>G (p.Glu8089=)
|
|
|
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs)
|
rs747564597
|
|
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs)
|
rs747564597
|
|
NM_001164508.2(NEB):c.24271_24274dup (p.Lys8092fs)
|
rs1559217202
|
|
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)
|
rs1553551748
|
|
NM_001164508.2(NEB):c.24277_24280dup (p.Asn8094fs)
|
rs1553551650
|
|
NM_001164508.2(NEB):c.2427G>A (p.Lys809=)
|
rs1415817931
|
|
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
|
|
|
NM_001164508.2(NEB):c.24286del (p.Glu8096fs)
|
|
|
NM_001164508.2(NEB):c.2428C>T (p.Gln810Ter)
|
|
|
NM_001164508.2(NEB):c.24291T>C (p.Asn8097=)
|
rs2152973027
|
|
NM_001164508.2(NEB):c.24291_24294dup (p.Ser8099delinsTyrTer)
|
rs2061157682
|
|
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup)
|
rs780724946
|
|
NM_001164508.2(NEB):c.24294T>C (p.Ile8098=)
|
rs910622324
|
|
NM_001164508.2(NEB):c.24297C>T (p.Ser8099=)
|
|
|
NM_001164508.2(NEB):c.24297_24300+1del
|
|
|
NM_001164508.2(NEB):c.24300+15A>T
|
rs986148550
|
|
NM_001164508.2(NEB):c.24300+18G>C
|
|
|
NM_001164508.2(NEB):c.24300+18_24300+20del
|
|
|
NM_001164508.2(NEB):c.24300+6_24300+7dup
|
rs1575019629
|
|
NM_001164508.2(NEB):c.24300+7T>C
|
rs2152972231
|
|
NM_001164508.2(NEB):c.24300+7T>G
|
|
|
NM_001164508.2(NEB):c.24300+8G>C
|
|
|
NM_001164508.2(NEB):c.24300G>C (p.Ser8100=)
|
rs541126160
|
|
NM_001164508.2(NEB):c.24301-10T>A
|
|
|
NM_001164508.2(NEB):c.24301-10T>C
|
|
|
NM_001164508.2(NEB):c.24301-19T>A
|
rs940899832
|
|
NM_001164508.2(NEB):c.24301-1G>T
|
|
|
NM_001164508.2(NEB):c.24301-5C>T
|
|
|
NM_001164508.2(NEB):c.24301-6G>A
|
rs1276441858
|
|
NM_001164508.2(NEB):c.24301-6G>T
|
|
|
NM_001164508.2(NEB):c.24301-7C>G
|
rs755582434
|
|
NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs)
|
rs1553548771
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24303G>A (p.Val8101=)
|
rs1047052144
|
|
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24304T>C (p.Leu8102=)
|
|
|
NM_001164508.2(NEB):c.24305T>A (p.Leu8102Ter)
|
rs1553548752
|
|
NM_001164508.2(NEB):c.24309C>A (p.Tyr8103Ter)
|
rs1332061304
|
|
NM_001164508.2(NEB):c.2430A>G (p.Gln810=)
|
|
|
NM_001164508.2(NEB):c.24327G>A (p.Lys8109=)
|
rs1574981537
|
|
NM_001164508.2(NEB):c.24329_24332dup (p.Pro8112fs)
|
rs1574981296
|
|
NM_001164508.2(NEB):c.2432A>T (p.Asp811Val)
|
rs896028175
|
|
NM_001164508.2(NEB):c.24335_24338dup (p.Pro8114fs)
|
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
NM_001164508.2(NEB):c.24342T>C (p.Pro8114=)
|
rs2060652221
|
|
NM_001164508.2(NEB):c.24350C>G (p.Pro8117Arg)
|
|
|
NM_001164508.2(NEB):c.24351T>A (p.Pro8117=)
|
|
|
NM_001164508.2(NEB):c.24354G>A (p.Glu8118=)
|
|
|
NM_001164508.2(NEB):c.24355_24357dup (p.Met8119dup)
|
rs942843328
|
|
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
|
|
|
NM_001164508.2(NEB):c.24361A>C (p.Arg8121=)
|
|
|
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)
|
rs752582527
|
|
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)
|
rs1553548207
|
|
NM_001164508.2(NEB):c.24375T>C (p.Asn8125=)
|
|
|
NM_001164508.2(NEB):c.24375_24377dup (p.Asn8125_Gln8126insHis)
|
rs1372551649
|
|
NM_001164508.2(NEB):c.24376C>T (p.Gln8126Ter)
|
|
|
NM_001164508.2(NEB):c.24376_24377insCC (p.Gln8126fs)
|
rs2152954992
|
|
NM_001164508.2(NEB):c.24377_24383del (p.Gln8126fs)
|
rs1553548018
|
|
NM_001164508.2(NEB):c.2437G>T (p.Glu813Ter)
|
|
|
NM_001164508.2(NEB):c.24386_24388dup (p.Ile8129dup)
|
rs767474018
|
|
NM_001164508.2(NEB):c.24387T>C (p.Ile8129=)
|
|
|
NM_001164508.2(NEB):c.24389G>C (p.Ser8130Thr)
|
rs2152954710
|
|
NM_001164508.2(NEB):c.24393+10C>G
|
rs1306898539
|
|
NM_001164508.2(NEB):c.24393+14A>G
|
|
|
NM_001164508.2(NEB):c.24393+7G>T
|
rs1574976591
|
|
NM_001164508.2(NEB):c.24393+9G>A
|
|
|
NM_001164508.2(NEB):c.24393+9del
|
rs2152954437
|
|
NM_001164508.2(NEB):c.24394-15T>C
|
|
|
NM_001164508.2(NEB):c.24394-17G>A
|
|
|
NM_001164508.2(NEB):c.24394-1G>A
|
rs1421095081
|
|
NM_001164508.2(NEB):c.24394-1G>C
|
|
|
NM_001164508.2(NEB):c.24394-20G>A
|
|
|
NM_001164508.2(NEB):c.24394-6G>T
|
rs1160511236
|
|
NM_001164508.2(NEB):c.24394G>C (p.Val8132Leu)
|
|
|
NM_001164508.2(NEB):c.24397_24398dup (p.Leu8133fs)
|
rs1553545126
|
|
NM_001164508.2(NEB):c.24426T>C (p.Thr8142=)
|
rs1049256350
|
|
NM_001164508.2(NEB):c.24429T>C (p.Pro8143=)
|
|
|
NM_001164508.2(NEB):c.24430T>C (p.Leu8144=)
|
rs2060153338
|
|
NM_001164508.2(NEB):c.24433G>A (p.Ala8145Thr)
|
|
|
NM_001164508.2(NEB):c.24444C>G (p.Pro8148=)
|
rs767654655
|
|
NM_001164508.2(NEB):c.24444C>T (p.Pro8148=)
|
rs767654655
|
|
NM_001164508.2(NEB):c.24447G>A (p.Glu8149=)
|
|
|
NM_001164508.2(NEB):c.24451G>A (p.Glu8151Lys)
|
rs1385464726
|
|
NM_001164508.2(NEB):c.24453_24454delinsAA (p.Glu8151_Arg8152=)
|
rs1574938607
|
|
NM_001164508.2(NEB):c.24454C>G (p.Arg8152Gly)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24461_24464dup (p.His8155fs)
|
rs2152937269
|
|
NM_001164508.2(NEB):c.24469C>T (p.Gln8157Ter)
|
|
|
NM_001164508.2(NEB):c.24472_24474del (p.Glu8158del)
|
rs1553544463
|
|
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer)
|
rs797044606
|
|
NM_001164508.2(NEB):c.24480T>C (p.Ile8160=)
|
rs746456810
|
|
NM_001164508.2(NEB):c.24486+10G>A
|
rs755064162
|
|
NM_001164508.2(NEB):c.24486+17G>C
|
rs2060106681
|
|
NM_001164508.2(NEB):c.24486+19A>G
|
|
|
NM_001164508.2(NEB):c.24486+7G>T
|
|
|
NM_001164508.2(NEB):c.24486+9C>A
|
rs763870394
|
|
NM_001164508.2(NEB):c.24487-16C>A
|
|
|
NM_001164508.2(NEB):c.24487-17C>T
|
|
|
NM_001164508.2(NEB):c.24487-1G>A
|
|
|
NM_001164508.2(NEB):c.24487-20G>T
|
|
|
NM_001164508.2(NEB):c.24487-26_24487-19del
|
|
|
NM_001164508.2(NEB):c.24487-27_24487-20del
|
|
|
NM_001164508.2(NEB):c.24487-2A>G
|
|
|
NM_001164508.2(NEB):c.24487-35CTTTTTGG[3]
|
|
|
NM_001164508.2(NEB):c.24487-6_24491del
|
|
|
NM_001164508.2(NEB):c.24487-7C>T
|
rs2152877064
|
|
NM_001164508.2(NEB):c.24492G>A (p.Leu8164=)
|
|
|
NM_001164508.2(NEB):c.24495C>T (p.Tyr8165=)
|
|
|
NM_001164508.2(NEB):c.244A>G (p.Met82Val)
|
rs587780398
|
|
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs)
|
rs2152876577
|
|
NM_001164508.2(NEB):c.24504T>C (p.Asn8168=)
|
rs2152876508
|
|
NM_001164508.2(NEB):c.24508G>A (p.Gly8170Arg)
|
rs1553537770
|
|
NM_001164508.2(NEB):c.24508G>C (p.Gly8170Arg)
|
rs1553537770
|
|
NM_001164508.2(NEB):c.24510dup (p.Lys8171fs)
|
|
|
NM_001164508.2(NEB):c.24517_24518dup (p.Ala8174fs)
|
rs2152876293
|
|
NM_001164508.2(NEB):c.24518C>T (p.Thr8173Ile)
|
|
|
NM_001164508.2(NEB):c.24519C>A (p.Thr8173=)
|
rs748978197
|
|
NM_001164508.2(NEB):c.24519C>T (p.Thr8173=)
|
rs748978197
|
|
NM_001164508.2(NEB):c.2451C>T (p.Ala817=)
|
rs2099513754
|
|
NM_001164508.2(NEB):c.24522A>G (p.Ala8174=)
|
rs1574795954
|
|
NM_001164508.2(NEB):c.24531C>A (p.Val8177=)
|
rs2152875794
|
|
NM_001164508.2(NEB):c.24536C>T (p.Pro8179Leu)
|
|
|
NM_001164508.2(NEB):c.24540G>A (p.Glu8180=)
|
|
|
NM_001164508.2(NEB):c.24546G>A (p.Gln8182=)
|
rs1158236657
|
|
NM_001164508.2(NEB):c.24546del (p.Arg8183fs)
|
|
|
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)
|
rs755863625
|
|
NM_001164508.2(NEB):c.24552C>G (p.Val8184=)
|
rs750690826
|
|
NM_001164508.2(NEB):c.24552C>T (p.Val8184=)
|
rs750690826
|
|
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)
|
rs1553537512
|
|
NM_001164508.2(NEB):c.24561T>A (p.Asn8187Lys)
|
|
|
NM_001164508.2(NEB):c.24561T>C (p.Asn8187=)
|
rs754144094
|
|
NM_001164508.2(NEB):c.24575G>C (p.Ser8192Thr)
|
rs2152874768
|
|
NM_001164508.2(NEB):c.24575dup (p.Ser8192fs)
|
rs2152874815
|
|
NM_001164508.2(NEB):c.24579+1G>T
|
rs2058584112
|
|
NM_001164508.2(NEB):c.24579+2T>C
|
rs1039759571
|
|
NM_001164508.2(NEB):c.24579+9T>C
|
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.2457G>A (p.Lys819=)
|
|
|
NM_001164508.2(NEB):c.24580-11G>A
|
|
|
NM_001164508.2(NEB):c.24580-1G>C
|
rs1574772311
|
|
NM_001164508.2(NEB):c.24580-2A>G
|
rs113290650
|
|
NM_001164508.2(NEB):c.24581T>A (p.Val8194Glu)
|
|
|
NM_001164508.2(NEB):c.24582G>A (p.Val8194=)
|
|
|
NM_001164508.2(NEB):c.24586T>C (p.Tyr8196His)
|
|
|
NM_001164508.2(NEB):c.24589A>G (p.Lys8197Glu)
|
|
|
NM_001164508.2(NEB):c.24598C>T (p.Leu8200=)
|
|
|
NM_001164508.2(NEB):c.24603G>A (p.Gly8201=)
|
|
|
NM_001164508.2(NEB):c.24605_24606insCACTCAGC (p.Lys8202fs)
|
|
|
NM_001164508.2(NEB):c.24608C>G (p.Ala8203Gly)
|
rs2152863881
|
|
NM_001164508.2(NEB):c.2460T>C (p.Phe820=)
|
rs981135945
|
|
NM_001164508.2(NEB):c.24612C>A (p.Thr8204=)
|
|
|
NM_001164508.2(NEB):c.24615_24616insCA (p.Thr8206fs)
|
|
|
NM_001164508.2(NEB):c.24617del (p.Thr8206fs)
|
rs2152863770
|
|
NM_001164508.2(NEB):c.24619C>A (p.Pro8207Thr)
|
|
|
NM_001164508.2(NEB):c.24620C>G (p.Pro8207Arg)
|
|
|
NM_001164508.2(NEB):c.24624T>C (p.Phe8208=)
|
|
|
NM_001164508.2(NEB):c.24625A>G (p.Thr8209Ala)
|
rs1680474922
|
|
NM_001164508.2(NEB):c.24630T>C (p.Pro8210=)
|
rs1331906548
|
|
NM_001164508.2(NEB):c.24632A>C (p.Glu8211Ala)
|
rs201243201
|
|
NM_001164508.2(NEB):c.24633G>A (p.Glu8211=)
|
|
|
NM_001164508.2(NEB):c.24636G>A (p.Met8212Ile)
|
rs770656983
|
|
NM_001164508.2(NEB):c.24637G>T (p.Glu8213Ter)
|
rs1553536267
|
|
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)
|
rs1357811155
|
|
NM_001164508.2(NEB):c.24657A>C (p.Gln8219His)
|
|
|
NM_001164508.2(NEB):c.24660A>G (p.Glu8220=)
|
|
|
NM_001164508.2(NEB):c.24660A>T (p.Glu8220Asp)
|
|
|
NM_001164508.2(NEB):c.24662dup (p.Asn8221fs)
|
|
|
NM_001164508.2(NEB):c.24663C>T (p.Asn8221=)
|
rs2152862292
|
|
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24666T>C (p.Phe8222=)
|
rs2152862127
|
|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24667dup (p.Ser8223fs)
|
|
|
NM_001164508.2(NEB):c.24668G>A (p.Ser8223Asn)
|
|
|
NM_001164508.2(NEB):c.24672+11A>C
|
|
|
NM_001164508.2(NEB):c.24672+1G>C
|
|
|
NM_001164508.2(NEB):c.24672+1del
|
rs2152861881
|
|
NM_001164508.2(NEB):c.24672+7T>C
|
rs2152861490
|
|
NM_001164508.2(NEB):c.24672+7dup
|
rs750437206
|
|
NM_001164508.2(NEB):c.24673-10G>T
|
rs2058075467
|
|
NM_001164508.2(NEB):c.24673-18C>A
|
|
|
NM_001164508.2(NEB):c.24673-19G>A
|
|
|
NM_001164508.2(NEB):c.24673-1G>A
|
rs1574741105
|
|
NM_001164508.2(NEB):c.24673-1G>C
|
|
|
NM_001164508.2(NEB):c.24673-20T>C
|
rs886038450
|
|
NM_001164508.2(NEB):c.24673-2A>C
|
rs112687345
|
|
NM_001164508.2(NEB):c.24673-6C>T
|
rs2152852833
|
|
NM_001164508.2(NEB):c.24673-7dup
|
rs1177278436
|
|
NM_001164508.2(NEB):c.24683_24684del (p.Lys8228fs)
|
|
|
NM_001164508.2(NEB):c.24690C>G (p.Asn8230Lys)
|
rs2058061871
|
|
NM_001164508.2(NEB):c.24690C>T (p.Asn8230=)
|
|
|
NM_001164508.2(NEB):c.24700G>C (p.Ala8234Pro)
|
|
|
NM_001164508.2(NEB):c.24703dup (p.Thr8235fs)
|
|
|
NM_001164508.2(NEB):c.24708G>C (p.Pro8236=)
|
rs768683537
|
|
NM_001164508.2(NEB):c.24710C>T (p.Thr8237Ile)
|
rs369083039
|
|
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs)
|
rs761067911
|
|
NM_001164508.2(NEB):c.24710dup (p.Pro8238fs)
|
|
|
NM_001164508.2(NEB):c.24714T>C (p.Pro8238=)
|
rs775453998
|
|
NM_001164508.2(NEB):c.24720T>C (p.Thr8240=)
|
|
|
NM_001164508.2(NEB):c.24722C>T (p.Pro8241Leu)
|
rs2152851388
|
|
NM_001164508.2(NEB):c.24722_24723del (p.Pro8241fs)
|
|
|
NM_001164508.2(NEB):c.24728T>G (p.Met8243Arg)
|
rs778196202
|
|
NM_001164508.2(NEB):c.2472_2638-455del
|
|
|
NM_001164508.2(NEB):c.24730G>T (p.Glu8244Ter)
|
|
|
NM_001164508.2(NEB):c.24731A>G (p.Glu8244Gly)
|
rs2152851090
|
|
NM_001164508.2(NEB):c.24733A>G (p.Arg8245Gly)
|
rs2058041442
|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
NM_001164508.2(NEB):c.24754A>G (p.Asn8252Asp)
|
|
|
NM_001164508.2(NEB):c.24756C>T (p.Asn8252=)
|
|
|
NM_001164508.2(NEB):c.24758T>C (p.Ile8253Thr)
|
|
|
NM_001164508.2(NEB):c.24762C>T (p.Ser8254=)
|
|
|
NM_001164508.2(NEB):c.24764C>T (p.Ser8255Leu)
|
|
|
NM_001164508.2(NEB):c.24765+11G>A
|
|
|
NM_001164508.2(NEB):c.24765+15T>A
|
|
|
NM_001164508.2(NEB):c.24765+15T>C
|
|
|
NM_001164508.2(NEB):c.24765+19_24765+24del
|
|
|
NM_001164508.2(NEB):c.24765+1G>A
|
rs2058028669
|
|
NM_001164508.2(NEB):c.24765+2T>A
|
rs2152850167
|
|
NM_001164508.2(NEB):c.24765+8C>A
|
|
|
NM_001164508.2(NEB):c.24765G>A (p.Ser8255=)
|
|
|
NM_001164508.2(NEB):c.24766-16G>A
|
|
|
NM_001164508.2(NEB):c.24766-16G>C
|
|
|
NM_001164508.2(NEB):c.24766-17G>A
|
|
|
NM_001164508.2(NEB):c.24766-1G>C
|
rs2152829108
|
|
NM_001164508.2(NEB):c.24766-5A>G
|
rs2152829210
|
|
NM_001164508.2(NEB):c.24766-6C>A
|
rs2057361729
|
|
NM_001164508.2(NEB):c.24766-6C>T
|
rs2057361729
|
|
NM_001164508.2(NEB):c.24766-7G>T
|
|
|
NM_001164508.2(NEB):c.24766-9C>T
|
rs1214414494
|
|
NM_001164508.2(NEB):c.24766-9_24767del
|
rs1553530144
|
|
NM_001164508.2(NEB):c.24769C>A (p.Leu8257Ile)
|
|
|
NM_001164508.2(NEB):c.24769C>T (p.Leu8257Phe)
|
|
|
NM_001164508.2(NEB):c.24772T>A (p.Tyr8258Asn)
|
|
|
NM_001164508.2(NEB):c.24775_24780del (p.Asp8260_Ser8261del)
|
|
|
NM_001164508.2(NEB):c.2477C>T (p.Ala826Val)
|
|
|
NM_001164508.2(NEB):c.24781A>G (p.Ser8261Gly)
|
|
|
NM_001164508.2(NEB):c.24783T>C (p.Ser8261=)
|
rs780485898
|
|
NM_001164508.2(NEB):c.24787C>T (p.Arg8263Trp)
|
|
|
NM_001164508.2(NEB):c.24788G>A (p.Arg8263Gln)
|
rs745615279
|
|
NM_001164508.2(NEB):c.2478C>A (p.Ala826=)
|
rs1233200041
|
|
NM_001164508.2(NEB):c.24798del (p.Gln8267fs)
|
|
|
NM_001164508.2(NEB):c.24799C>G (p.Gln8267Glu)
|
rs2152828559
|
|
NM_001164508.2(NEB):c.2479A>G (p.Ile827Val)
|
|
|
NM_001164508.2(NEB):c.24802G>A (p.Gly8268Ser)
|
|
|
NM_001164508.2(NEB):c.24816T>C (p.Tyr8272=)
|
|
|
NM_001164508.2(NEB):c.24816T>G (p.Tyr8272Ter)
|
rs1265163979
|
|
NM_001164508.2(NEB):c.24817G>A (p.Val8273Ile)
|
|
|
NM_001164508.2(NEB):c.24819A>G (p.Val8273=)
|
|
|
NM_001164508.2(NEB):c.24827C>A (p.Thr8276Asn)
|
|
|
NM_001164508.2(NEB):c.24827C>T (p.Thr8276Ile)
|
|
|
NM_001164508.2(NEB):c.24828C>T (p.Thr8276=)
|
|
|
NM_001164508.2(NEB):c.24829C>G (p.Pro8277Ala)
|
|
|
NM_001164508.2(NEB):c.24830C>A (p.Pro8277His)
|
rs2152828148
|
|
NM_001164508.2(NEB):c.24831C>G (p.Pro8277=)
|
rs1170681985
|
|
NM_001164508.2(NEB):c.24832G>C (p.Glu8278Gln)
|
|
|
NM_001164508.2(NEB):c.24839G>A (p.Arg8280Lys)
|
rs759522039
|
|
NM_001164508.2(NEB):c.24845T>C (p.Val8282Ala)
|
|
|
NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)
|
|
|
NM_001164508.2(NEB):c.24857A>G (p.Gln8286Arg)
|
|
|
NM_001164508.2(NEB):c.24859C>A (p.Arg8287=)
|
rs200804762
|
|
NM_001164508.2(NEB):c.24859C>T (p.Arg8287Trp)
|
rs200804762
|
|
NM_001164508.2(NEB):c.2485C>G (p.Leu829Val)
|
rs2099513616
|
|
NM_001164508.2(NEB):c.2485C>T (p.Leu829=)
|
|
|
NM_001164508.2(NEB):c.24860G>A (p.Arg8287Gln)
|
|
|
NM_001164508.2(NEB):c.24867C>A (p.Ile8289=)
|
|
|
NM_001164508.2(NEB):c.24872C>T (p.Thr8291Met)
|
|
|
NM_001164508.2(NEB):c.24873+10G>A
|
rs2152826984
|
|
NM_001164508.2(NEB):c.24873+12A>G
|
|
|
NM_001164508.2(NEB):c.24873+15_24873+18dup
|
|
|
NM_001164508.2(NEB):c.24873+18T>C
|
|
|
NM_001164508.2(NEB):c.24873+20G>A
|
|
|
NM_001164508.2(NEB):c.24873+20G>C
|
|
|
NM_001164508.2(NEB):c.24873+2T>C
|
|
|
NM_001164508.2(NEB):c.24873+9G>A
|
rs2057311671
|
|
NM_001164508.2(NEB):c.24873G>T (p.Thr8291=)
|
|
|
NM_001164508.2(NEB):c.24874-16A>G
|
|
|
NM_001164508.2(NEB):c.24874-9A>T
|
rs2152823775
|
|
NM_001164508.2(NEB):c.24875T>C (p.Val8292Ala)
|
|
|
NM_001164508.2(NEB):c.2487G>A (p.Leu829=)
|
rs768877114
|
|
NM_001164508.2(NEB):c.24883_24885del (p.His8295del)
|
rs1553527955
|
|
NM_001164508.2(NEB):c.24901C>A (p.His8301Asn)
|
|
|
NM_001164508.2(NEB):c.24903C>T (p.His8301=)
|
|
|
NM_001164508.2(NEB):c.24907G>C (p.Gly8303Arg)
|
rs780925059
|
|
NM_001164508.2(NEB):c.24908G>A (p.Gly8303Asp)
|
|
|
NM_001164508.2(NEB):c.24913_24914delinsA (p.Phe8305fs)
|
|
|
NM_001164508.2(NEB):c.24919C>A (p.Pro8307Thr)
|
rs886054927
|
|
NM_001164508.2(NEB):c.24923T>C (p.Val8308Ala)
|
|
|
NM_001164508.2(NEB):c.24925G>C (p.Val8309Leu)
|
rs1401528056
|
|
NM_001164508.2(NEB):c.24927G>A (p.Val8309=)
|
rs1305389773
|
|
NM_001164508.2(NEB):c.24930A>C (p.Thr8310=)
|
|
|
NM_001164508.2(NEB):c.2493A>G (p.Ala831=)
|
|
|
NM_001164508.2(NEB):c.24946C>G (p.Arg8316Gly)
|
|
|
NM_001164508.2(NEB):c.24947G>A (p.Arg8316Gln)
|
|
|
NM_001164508.2(NEB):c.24949G>A (p.Val8317Ile)
|
rs1341580706
|
|
NM_001164508.2(NEB):c.24951A>C (p.Val8317=)
|
|
|
NM_001164508.2(NEB):c.24954GAA[1] (p.Lys8319del)
|
rs755822172
|
|
NM_001164508.2(NEB):c.24957_24958del (p.Asn8320fs)
|
|
|
NM_001164508.2(NEB):c.24968_24969insG (p.Asp8323fs)
|
|
|
NM_001164508.2(NEB):c.2496C>T (p.Ala832=)
|
|
|
NM_001164508.2(NEB):c.24971T>C (p.Phe8324Ser)
|
|
|
NM_001164508.2(NEB):c.24972C>T (p.Phe8324=)
|
|
|
NM_001164508.2(NEB):c.24980T>C (p.Ile8327Thr)
|
rs775698655
|
|
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)
|
rs767709270
|
|
NM_001164508.2(NEB):c.24989G>A (p.Arg8330Gln)
|
|
|
NM_001164508.2(NEB):c.24994_24995dup (p.Gln8333fs)
|
|
|
NM_001164508.2(NEB):c.24996del (p.Gln8333fs)
|
rs1553526884
|
|
NM_001164508.2(NEB):c.24997C>T (p.Gln8333Ter)
|
|
|
NM_001164508.2(NEB):c.24998A>T (p.Gln8333Leu)
|
|
|
NM_001164508.2(NEB):c.24999G>A (p.Gln8333=)
|
rs774663967
|
|
NM_001164508.2(NEB):c.2499del (p.Ala834fs)
|
rs1553564693
|
|
NM_001164508.2(NEB):c.249C>A (p.Thr83=)
|
rs200936927
|
|
NM_001164508.2(NEB):c.24G>A (p.Glu8=)
|
|
|
NM_001164508.2(NEB):c.25002G>A (p.Arg8334=)
|
rs267598917
|
|
NM_001164508.2(NEB):c.25003A>T (p.Lys8335Ter)
|
rs2152821411
|
|
NM_001164508.2(NEB):c.25005A>G (p.Lys8335=)
|
rs996538018
|
|
NM_001164508.2(NEB):c.25007T>C (p.Val8336Ala)
|
rs1574651626
|
|
NM_001164508.2(NEB):c.25008G>A (p.Val8336=)
|
|
|
NM_001164508.2(NEB):c.25010T>G (p.Val8337Gly)
|
rs2057127460
|
|
NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter)
|
rs1553526619
|
|
NM_001164508.2(NEB):c.25021C>A (p.Gln8341Lys)
|
|
|
NM_001164508.2(NEB):c.25027C>T (p.Arg8343Trp)
|
|
|
NM_001164508.2(NEB):c.25029G>A (p.Arg8343=)
|
|
|
NM_001164508.2(NEB):c.25037A>G (p.Gln8346Arg)
|
rs2057118708
|
|
NM_001164508.2(NEB):c.25039G>C (p.Asp8347His)
|
|
|
NM_001164508.2(NEB):c.25047G>A (p.Glu8349=)
|
|
|
NM_001164508.2(NEB):c.25049C>T (p.Thr8350Ile)
|
rs2057112732
|
|
NM_001164508.2(NEB):c.25053T>A (p.Ile8351=)
|
rs1316503376
|
|
NM_001164508.2(NEB):c.25053T>C (p.Ile8351=)
|
rs1316503376
|
|
NM_001164508.2(NEB):c.25057+12T>C
|
|
|
NM_001164508.2(NEB):c.25057+15G>A
|
|
|
NM_001164508.2(NEB):c.25057+1G>A
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25057+1G>C
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25057+1G>T
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25057+20G>A
|
|
|
NM_001164508.2(NEB):c.25057+9G>A
|
rs2152820055
|
|
NM_001164508.2(NEB):c.25058-10T>C
|
|
|
NM_001164508.2(NEB):c.25058-13G>A
|
|
|
NM_001164508.2(NEB):c.25058-16_25058-14dup
|
|
|
NM_001164508.2(NEB):c.25058-2A>C
|
rs866309952
|
|
NM_001164508.2(NEB):c.25061del (p.Leu8354fs)
|
|
|
NM_001164508.2(NEB):c.25066G>A (p.Val8356Ile)
|
|
|
NM_001164508.2(NEB):c.25077T>C (p.Thr8359=)
|
rs2152811147
|
|
NM_001164508.2(NEB):c.25080T>A (p.Asn8360Lys)
|
|
|
NM_001164508.2(NEB):c.25083T>C (p.Pro8361=)
|
rs781270392
|
|
NM_001164508.2(NEB):c.25088C>A (p.Ser8363Ter)
|
|
|
NM_001164508.2(NEB):c.25088C>T (p.Ser8363Leu)
|
|
|
NM_001164508.2(NEB):c.25098C>T (p.Asp8366=)
|
|
|
NM_001164508.2(NEB):c.25099T>C (p.Tyr8367His)
|
|
|
NM_001164508.2(NEB):c.25101T>C (p.Tyr8367=)
|
|
|
NM_001164508.2(NEB):c.25105C>G (p.Pro8369Ala)
|
rs1038960610
|
|
NM_001164508.2(NEB):c.25107A>C (p.Pro8369=)
|
rs763433145
|
|
NM_001164508.2(NEB):c.25116C>T (p.Asp8372=)
|
|
|
NM_001164508.2(NEB):c.25119C>A (p.Asn8373Lys)
|
|
|
NM_001164508.2(NEB):c.25119C>T (p.Asn8373=)
|
rs765813999
|
|
NM_001164508.2(NEB):c.25128C>T (p.Ser8376=)
|
|
|
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter)
|
rs777232352
|
|
NM_001164508.2(NEB):c.25130G>C (p.Arg8377Pro)
|
|
|
NM_001164508.2(NEB):c.25132A>G (p.Ser8378Gly)
|
|
|
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)
|
rs760200697
|
|
NM_001164508.2(NEB):c.25140C>G (p.His8380Gln)
|
|
|
NM_001164508.2(NEB):c.25142T>C (p.Met8381Thr)
|
|
|
NM_001164508.2(NEB):c.25146T>C (p.Ile8382=)
|
|
|
NM_001164508.2(NEB):c.2514C>T (p.Asn838=)
|
rs962547010
|
|
NM_001164508.2(NEB):c.25150+16_25150+17insC
|
|
|
NM_001164508.2(NEB):c.25150+1G>C
|
|
|
NM_001164508.2(NEB):c.25150+8A>G
|
rs1293280918
|
|
NM_001164508.2(NEB):c.25150+9G>T
|
rs2152809670
|
|
NM_001164508.2(NEB):c.25151-12C>A
|
|
|
NM_001164508.2(NEB):c.25151-1G>T
|
rs1553520609
|
|
NM_001164508.2(NEB):c.25151-5C>T
|
rs1289143121
|
|
NM_001164508.2(NEB):c.25151-9C>T
|
|
|
NM_001164508.2(NEB):c.25152C>G (p.Val8384=)
|
|
|
NM_001164508.2(NEB):c.25153C>A (p.Gln8385Lys)
|
|
|
NM_001164508.2(NEB):c.25158_25159del (p.Gln8387fs)
|
|
|
NM_001164508.2(NEB):c.25162C>A (p.Arg8388Ser)
|
|
|
NM_001164508.2(NEB):c.25165del (p.Arg8389fs)
|
|
|
NM_001164508.2(NEB):c.25166G>A (p.Arg8389Gln)
|
|
|
NM_001164508.2(NEB):c.25170C>T (p.Ser8390=)
|
|
|
NM_001164508.2(NEB):c.25174G>A (p.Glu8392Lys)
|
rs121913662
|
|
NM_001164508.2(NEB):c.25174G>T (p.Glu8392Ter)
|
rs121913662
|
|
NM_001164508.2(NEB):c.25176G>A (p.Glu8392=)
|
|
|
NM_001164508.2(NEB):c.25179G>A (p.Gln8393=)
|
rs2152778292
|
|
NM_001164508.2(NEB):c.2517C>T (p.Thr839=)
|
|
|
NM_001164508.2(NEB):c.25180T>C (p.Ser8394Pro)
|
|
|
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter)
|
rs2055484249
|
|
NM_001164508.2(NEB):c.25182_25187del (p.Arg8395_Ser8396del)
|
rs1553520388
|
|
NM_001164508.2(NEB):c.25184G>T (p.Arg8395Leu)
|
rs779983347
|
|
NM_001164508.2(NEB):c.25188T>G (p.Ser8396=)
|
rs758444605
|
|
NM_001164508.2(NEB):c.25192A>G (p.Ser8398Gly)
|
rs1308512715
|
|
NM_001164508.2(NEB):c.25197A>C (p.Ala8399=)
|
rs779234504
|
|
NM_001164508.2(NEB):c.25198C>T (p.Leu8400=)
|
rs2055471102
|
|
NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)
|
|
|
NM_001164508.2(NEB):c.25208G>A (p.Ser8403Asn)
|
rs374494479
|
|
NM_001164508.2(NEB):c.25209dup (p.Gly8404fs)
|
rs2152777457
|
|
NM_001164508.2(NEB):c.25212G>A (p.Gly8404=)
|
rs1354948924
|
|
NM_001164508.2(NEB):c.25212G>T (p.Gly8404=)
|
|
|
NM_001164508.2(NEB):c.25214G>T (p.Gly8405Val)
|
rs768811942
|
|
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)
|
rs1553520266
|
|
NM_001164508.2(NEB):c.25215_25216del (p.Glu8406fs)
|
|
|
NM_001164508.2(NEB):c.25216GAG[1] (p.Glu8407del)
|
|
|
NM_001164508.2(NEB):c.25218G>A (p.Glu8406=)
|
|
|
NM_001164508.2(NEB):c.25227T>A (p.Ser8409=)
|
rs2152776955
|
|
NM_001164508.2(NEB):c.25227T>C (p.Ser8409=)
|
|
|
NM_001164508.2(NEB):c.25228G>A (p.Glu8410Lys)
|
|
|
NM_001164508.2(NEB):c.2523+10_2523+17del
|
rs1553564544
|
|
NM_001164508.2(NEB):c.2523+17G>T
|
|
|
NM_001164508.2(NEB):c.2523+2T>A
|
rs2099513404
|
|
NM_001164508.2(NEB):c.2523+6T>C
|
rs2099513341
|
|
NM_001164508.2(NEB):c.2523+8T>C
|
|
|
NM_001164508.2(NEB):c.25235_25297+90del
|
|
|
NM_001164508.2(NEB):c.25236A>G (p.Ser8412=)
|
rs1574544943
|
|
NM_001164508.2(NEB):c.2524-10G>A
|
|
|
NM_001164508.2(NEB):c.2524-12A>G
|
|
|
NM_001164508.2(NEB):c.2524-12A>T
|
|
|
NM_001164508.2(NEB):c.2524-15G>A
|
|
|
NM_001164508.2(NEB):c.2524-17G>A
|
|
|
NM_001164508.2(NEB):c.2524-2A>G
|
rs2148951277
|
|
NM_001164508.2(NEB):c.2524-9T>C
|
|
|
NM_001164508.2(NEB):c.25251C>T (p.His8417=)
|
rs2152776470
|
|
NM_001164508.2(NEB):c.25255C>T (p.Leu8419Phe)
|
|
|
NM_001164508.2(NEB):c.25258T>C (p.Ser8420Pro)
|
rs886054925
|
|
NM_001164508.2(NEB):c.25259C>A (p.Ser8420Ter)
|
rs949111967
|
|
NM_001164508.2(NEB):c.25260G>C (p.Ser8420=)
|
|
|
NM_001164508.2(NEB):c.25261A>C (p.Thr8421Pro)
|
|
|
NM_001164508.2(NEB):c.25269C>T (p.Ser8423=)
|
rs776563539
|
|
NM_001164508.2(NEB):c.25272C>T (p.Asp8424=)
|
rs772073084
|
|
NM_001164508.2(NEB):c.25273G>A (p.Gly8425Arg)
|
|
|
NM_001164508.2(NEB):c.25287A>C (p.Ala8429=)
|
rs915172166
|
|
NM_001164508.2(NEB):c.25287A>G (p.Ala8429=)
|
|
|
NM_001164508.2(NEB):c.25290C>T (p.Val8430=)
|
|
|
NM_001164508.2(NEB):c.25297+15del
|
|
|
NM_001164508.2(NEB):c.25297+1G>A
|
rs113525641
|
|
NM_001164508.2(NEB):c.25297+2del
|
rs1553519860
|
|
NM_001164508.2(NEB):c.25297+4C>T
|
rs1410859190
|
|
NM_001164508.2(NEB):c.25297+9G>C
|
|
|
NM_001164508.2(NEB):c.25298-10T>C
|
|
|
NM_001164508.2(NEB):c.25298-11_25298-10del
|
rs1553519312
|
|
NM_001164508.2(NEB):c.25298-11dup
|
rs34415027
|
|
NM_001164508.2(NEB):c.25298-13C>G
|
|
|
NM_001164508.2(NEB):c.25298-14C>A
|
|
|
NM_001164508.2(NEB):c.25298-14C>G
|
|
|
NM_001164508.2(NEB):c.25298-15C>T
|
|
|
NM_001164508.2(NEB):c.25298-16G>T
|
|
|
NM_001164508.2(NEB):c.25298-18T>G
|
|
|
NM_001164508.2(NEB):c.25298-2A>C
|
|
|
NM_001164508.2(NEB):c.25298-2A>G
|
|
|
NM_001164508.2(NEB):c.25298-4T>C
|
|
|
NM_001164508.2(NEB):c.25298-4del
|
|
|
NM_001164508.2(NEB):c.25298-4dup
|
rs757290966
|
|
NM_001164508.2(NEB):c.25304A>G (p.Lys8435Arg)
|
|
|
NM_001164508.2(NEB):c.25308T>C (p.His8436=)
|
rs966105402
|
|
NM_001164508.2(NEB):c.25323G>A (p.Glu8441=)
|
rs1370977464
|
|
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter)
|
rs2152763931
|
|
NM_001164508.2(NEB):c.25337G>A (p.Arg8446Gln)
|
rs751128054
|
|
NM_001164508.2(NEB):c.25338A>G (p.Arg8446=)
|
rs2152763764
|
|
NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter)
|
rs1553519124
|
|
NM_001164508.2(NEB):c.25343C>T (p.Ser8448Phe)
|
|
|
NM_001164508.2(NEB):c.25344T>C (p.Ser8448=)
|
|
|
NM_001164508.2(NEB):c.25345_25347del (p.Ser8449del)
|
rs1553519071
|
|
NM_001164508.2(NEB):c.25347A>T (p.Ser8449=)
|
rs779552151
|
|
NM_001164508.2(NEB):c.25350T>C (p.Val8450=)
|
|
|
NM_001164508.2(NEB):c.25352C>T (p.Ala8451Val)
|
|
|
NM_001164508.2(NEB):c.25359A>G (p.Gln8453=)
|
rs377748897
|
|
NM_001164508.2(NEB):c.25360C>T (p.Gln8454Ter)
|
|
|
NM_001164508.2(NEB):c.25361A>G (p.Gln8454Arg)
|
|
|
NM_001164508.2(NEB):c.25362G>A (p.Gln8454=)
|
|
|
NM_001164508.2(NEB):c.25377C>T (p.Ser8459=)
|
rs2054887340
|
|
NM_001164508.2(NEB):c.25386T>C (p.Ser8462=)
|
|
|
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)
|
rs376984481
|
|
NM_001164508.2(NEB):c.25390C>G (p.Pro8464Ala)
|
|
|
NM_001164508.2(NEB):c.25396A>G (p.Thr8466Ala)
|
rs2152762849
|
|
NM_001164508.2(NEB):c.25404+10T>A
|
rs763079125
|
|
NM_001164508.2(NEB):c.25404+10T>C
|
rs763079125
|
|
NM_001164508.2(NEB):c.25404+13C>T
|
|
|
NM_001164508.2(NEB):c.25404+14A>G
|
|
|
NM_001164508.2(NEB):c.25404+14A>T
|
|
|
NM_001164508.2(NEB):c.25404+2T>A
|
rs1553518813
|
|
NM_001164508.2(NEB):c.25405-10C>T
|
|
|
NM_001164508.2(NEB):c.25405-11C>T
|
|
|
NM_001164508.2(NEB):c.25405-12C>A
|
|
|
NM_001164508.2(NEB):c.25405-15del
|
|
|
NM_001164508.2(NEB):c.25405-17T>A
|
|
|
NM_001164508.2(NEB):c.25405-17dup
|
rs148839798
|
|
NM_001164508.2(NEB):c.25405-1G>C
|
rs1553508368
|
|
NM_001164508.2(NEB):c.25405-20T>G
|
|
|
NM_001164508.2(NEB):c.25405-6G>T
|
|
|
NM_001164508.2(NEB):c.25409T>C (p.Ile8470Thr)
|
rs1280701887
|
|
NM_001164508.2(NEB):c.25413C>T (p.Phe8471=)
|
rs2152621085
|
|
NM_001164508.2(NEB):c.2541C>T (p.Asp847=)
|
|
|
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter)
|
rs2152620357
|
|
NM_001164508.2(NEB):c.25429T>C (p.Tyr8477His)
|
|
|
NM_001164508.2(NEB):c.2542T>C (p.Tyr848His)
|
|
|
NM_001164508.2(NEB):c.25438G>T (p.Ala8480Ser)
|
|
|
NM_001164508.2(NEB):c.25443T>C (p.Asp8481=)
|
|
|
NM_001164508.2(NEB):c.25444G>A (p.Ala8482Thr)
|
|
|
NM_001164508.2(NEB):c.25447G>C (p.Asp8483His)
|
rs993833092
|
|
NM_001164508.2(NEB):c.25447G>T (p.Asp8483Tyr)
|
|
|
NM_001164508.2(NEB):c.25452G>A (p.Glu8484=)
|
rs2152619253
|
|
NM_001164508.2(NEB):c.25464G>A (p.Lys8488=)
|
|
|
NM_001164508.2(NEB):c.25469G>A (p.Gly8490Glu)
|
|
|
NM_001164508.2(NEB):c.25476C>A (p.Ala8492=)
|
|
|
NM_001164508.2(NEB):c.25479C>T (p.Ile8493=)
|
rs2049826815
|
|
NM_001164508.2(NEB):c.2547A>G (p.Glu849=)
|
rs2148950522
|
|
NM_001164508.2(NEB):c.25498G>A (p.Asp8500Asn)
|
rs1574251962
|
|
NM_001164508.2(NEB):c.2549del (p.Lys850fs)
|
|
|
NM_001164508.2(NEB):c.254A>G (p.Tyr85Cys)
|
rs1201662596
|
|
NM_001164508.2(NEB):c.25500T>C (p.Asp8500=)
|
|
|
NM_001164508.2(NEB):c.25501G>T (p.Glu8501Ter)
|
rs1304300842
|
|
NM_001164508.2(NEB):c.25508G>A (p.Trp8503Ter)
|
rs1206080778
|
|
NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter)
|
|
|
NM_001164508.2(NEB):c.25515T>C (p.Tyr8505=)
|
|
|
NM_001164508.2(NEB):c.25519A>G (p.Thr8507Ala)
|
|
|
NM_001164508.2(NEB):c.25522G>A (p.Val8508Met)
|
|
|
NM_001164508.2(NEB):c.25527G>A (p.Gln8509=)
|
|
|
NM_001164508.2(NEB):c.2552G>A (p.Ser851Asn)
|
|
|
NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser)
|
rs751394716
|
|
NM_001164508.2(NEB):c.25534G>C (p.Gly8512Arg)
|
|
|
NM_001164508.2(NEB):c.25534_25535insTATGCACTGTGCAGAGGACTG (p.Thr8511_Gly8512insValCysThrValGlnArgThr)
|
rs1211056097
|
|
NM_001164508.2(NEB):c.25535G>A (p.Gly8512Asp)
|
rs2152614968
|
|
NM_001164508.2(NEB):c.25536C>T (p.Gly8512=)
|
|
|
NM_001164508.2(NEB):c.25540A>G (p.Thr8514Ala)
|
|
|
NM_001164508.2(NEB):c.25542C>G (p.Thr8514=)
|
rs3821324
|
|
NM_001164508.2(NEB):c.25543G>T (p.Gly8515Ter)
|
rs776932788
|
|
NM_001164508.2(NEB):c.25544del (p.Gly8515fs)
|
rs1205824305
|
|
NM_001164508.2(NEB):c.25551C>T (p.Leu8517=)
|
|
|
NM_001164508.2(NEB):c.25564G>T (p.Val8522Phe)
|
rs117861109
|
|
NM_001164508.2(NEB):c.25565T>C (p.Val8522Ala)
|
|
|
NM_001164508.2(NEB):c.25573A>G (p.Ile8525Val)
|
rs2049766133
|
|
NM_001164508.2(NEB):c.2560_2561insTGAAATATTGATACAC (p.Lys854delinsMetLysTyrTer)
|
|
|
NM_001164508.2(NEB):c.2566_2569del (p.Ile856fs)
|
rs2148949901
|
|
NM_001164508.2(NEB):c.2567T>C (p.Ile856Thr)
|
|
|
NM_001164508.2(NEB):c.2569G>A (p.Gly857Arg)
|
rs1559253666
|
|
NM_001164508.2(NEB):c.2572G>A (p.Ala858Thr)
|
|
|
NM_001164508.2(NEB):c.2577C>G (p.Leu859=)
|
rs777445109
|
|
NM_001164508.2(NEB):c.257T>C (p.Ile86Thr)
|
|
|
NM_001164508.2(NEB):c.2581A>G (p.Ile861Val)
|
rs755695934
|
|
NM_001164508.2(NEB):c.2586T>A (p.Asn862Lys)
|
|
|
NM_001164508.2(NEB):c.2586T>C (p.Asn862=)
|
|
|
NM_001164508.2(NEB):c.258T>C (p.Ile86=)
|
rs764472169
|
|
NM_001164508.2(NEB):c.2595A>G (p.Pro865=)
|
|
|
NM_001164508.2(NEB):c.25G>A (p.Glu9Lys)
|
rs2151148401
|
|
NM_001164508.2(NEB):c.2607C>T (p.His869=)
|
rs1576361832
|
|
NM_001164508.2(NEB):c.2609C>T (p.Ser870Phe)
|
rs896068588
|
|
NM_001164508.2(NEB):c.2610C>T (p.Ser870=)
|
|
|
NM_001164508.2(NEB):c.2613_2614del (p.Lys872fs)
|
|
|
NM_001164508.2(NEB):c.2618C>T (p.Thr873Ile)
|
|
|
NM_001164508.2(NEB):c.2619A>G (p.Thr873=)
|
|
|
NM_001164508.2(NEB):c.2624A>G (p.Lys875Arg)
|
|
|
NM_001164508.2(NEB):c.2625A>G (p.Lys875=)
|
rs1205199033
|
|
NM_001164508.2(NEB):c.2627del (p.Asn876fs)
|
|
|
NM_001164508.2(NEB):c.2630A>T (p.Gln877Leu)
|
rs373892420
|
|
NM_001164508.2(NEB):c.2637+12T>C
|
|
|
NM_001164508.2(NEB):c.2637+20T>A
|
|
|
NM_001164508.2(NEB):c.2637+3G>C
|
|
|
NM_001164508.2(NEB):c.2637+7G>A
|
|
|
NM_001164508.2(NEB):c.2637+7G>C
|
rs752706153
|
|
NM_001164508.2(NEB):c.2638-10C>T
|
rs1576291664
|
|
NM_001164508.2(NEB):c.2638-18A>G
|
|
|
NM_001164508.2(NEB):c.2638-19G>T
|
rs750188445
|
|
NM_001164508.2(NEB):c.2638-20T>C
|
|
|
NM_001164508.2(NEB):c.2638-4A>G
|
rs1236565312
|
|
NM_001164508.2(NEB):c.2638-9T>C
|
rs2148846461
|
|
NM_001164508.2(NEB):c.2640C>G (p.Arg880=)
|
|
|
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter)
|
rs1333519240
|
|
NM_001164508.2(NEB):c.264C>T (p.His88=)
|
|
|
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)
|
|
|
NM_001164508.2(NEB):c.2659G>A (p.Glu887Lys)
|
rs1553558398
|
|
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter)
|
rs1553558398
|
|
NM_001164508.2(NEB):c.2661A>G (p.Glu887=)
|
|
|
NM_001164508.2(NEB):c.2667A>G (p.Ser889=)
|
rs2148844718
|
|
NM_001164508.2(NEB):c.2673T>C (p.Thr891=)
|
rs2148844647
|
|
NM_001164508.2(NEB):c.2674A>G (p.Ile892Val)
|
|
|
NM_001164508.2(NEB):c.2675_2678del (p.Ile892fs)
|
rs2148844303
|
|
NM_001164508.2(NEB):c.2678A>G (p.Tyr893Cys)
|
|
|
NM_001164508.2(NEB):c.2679C>T (p.Tyr893=)
|
|
|
NM_001164508.2(NEB):c.2681C>A (p.Thr894Lys)
|
|
|
NM_001164508.2(NEB):c.2681C>T (p.Thr894Met)
|
|
|
NM_001164508.2(NEB):c.2682G>A (p.Thr894=)
|
|
|
NM_001164508.2(NEB):c.2682G>C (p.Thr894=)
|
|
|
NM_001164508.2(NEB):c.2685A>G (p.Ala895=)
|
rs2099481277
|
|
NM_001164508.2(NEB):c.2688T>A (p.Pro896=)
|
|
|
NM_001164508.2(NEB):c.2688T>C (p.Pro896=)
|
|
|
NM_001164508.2(NEB):c.2700C>G (p.Leu900=)
|
rs2099481133
|
|
NM_001164508.2(NEB):c.2709T>C (p.Thr903=)
|
|
|
NM_001164508.2(NEB):c.2716A>T (p.Lys906Ter)
|
|
|
NM_001164508.2(NEB):c.2731A>G (p.Ile911Val)
|
|
|
NM_001164508.2(NEB):c.2740G>A (p.Asp914Asn)
|
|
|
NM_001164508.2(NEB):c.2743G>A (p.Val915Ile)
|
|
|
NM_001164508.2(NEB):c.2745T>G (p.Val915=)
|
rs2148841610
|
|
NM_001164508.2(NEB):c.2751del (p.Asp916_Tyr917insTer)
|
rs1553557405
|
|
NM_001164508.2(NEB):c.2757C>T (p.His919=)
|
|
|
NM_001164508.2(NEB):c.2760C>T (p.Ile920=)
|
rs2148840948
|
|
NM_001164508.2(NEB):c.2761T>C (p.Leu921=)
|
|
|
NM_001164508.2(NEB):c.2762T>A (p.Leu921Ter)
|
|
|
NM_001164508.2(NEB):c.2762T>C (p.Leu921Ser)
|
rs2099480203
|
|
NM_001164508.2(NEB):c.2766C>T (p.His922=)
|
|
|
NM_001164508.2(NEB):c.2769T>C (p.Ser923=)
|
|
|
NM_001164508.2(NEB):c.2772C>T (p.Tyr924=)
|
rs1466946196
|
|
NM_001164508.2(NEB):c.2778C>A (p.Tyr926Ter)
|
rs1576286971
|
|
NM_001164508.2(NEB):c.2778C>T (p.Tyr926=)
|
rs1576286971
|
|
NM_001164508.2(NEB):c.2781C>A (p.Pro927=)
|
rs745481666
|
|
NM_001164508.2(NEB):c.2781C>G (p.Pro927=)
|
rs745481666
|
|
NM_001164508.2(NEB):c.2781C>T (p.Pro927=)
|
|
|
NM_001164508.2(NEB):c.2782C>G (p.Pro928Ala)
|
|
|
NM_001164508.2(NEB):c.2783del (p.Pro928fs)
|
|
|
NM_001164508.2(NEB):c.2786A>G (p.Asp929Gly)
|
|
|
NM_001164508.2(NEB):c.2796T>C (p.Asn932=)
|
rs372724145
|
|
NM_001164508.2(NEB):c.2799G>A (p.Val933=)
|
|
|
NM_001164508.2(NEB):c.2803C>T (p.Leu935Phe)
|
|
|
NM_001164508.2(NEB):c.2817A>C (p.Ala939=)
|
rs1576285597
|
|
NM_001164508.2(NEB):c.2820T>C (p.Tyr940=)
|
rs1217380476
|
|
NM_001164508.2(NEB):c.2822C>T (p.Ala941Val)
|
rs765478068
|
|
NM_001164508.2(NEB):c.2833G>A (p.Asp945Asn)
|
|
|
NM_001164508.2(NEB):c.2833G>T (p.Asp945Tyr)
|
rs549231016
|
|
NM_001164508.2(NEB):c.2835+14G>A
|
|
|
NM_001164508.2(NEB):c.2835+17T>C
|
|
|
NM_001164508.2(NEB):c.2835+18C>T
|
|
|
NM_001164508.2(NEB):c.2835+19T>C
|
|
|
NM_001164508.2(NEB):c.2835+1G>A
|
|
|
NM_001164508.2(NEB):c.2835+20G>A
|
|
|
NM_001164508.2(NEB):c.2835+5G>C
|
rs2148837364
|
|
NM_001164508.2(NEB):c.2835+7A>T
|
|
|
NM_001164508.2(NEB):c.2836-10G>T
|
rs2148737884
|
|
NM_001164508.2(NEB):c.2836-13C>G
|
|
|
NM_001164508.2(NEB):c.2836-13C>T
|
|
|
NM_001164508.2(NEB):c.2836-15C>G
|
|
|
NM_001164508.2(NEB):c.2836-15C>T
|
|
|
NM_001164508.2(NEB):c.2836-19C>A
|
|
|
NM_001164508.2(NEB):c.2836-19C>T
|
|
|
NM_001164508.2(NEB):c.2836-2A>G
|
rs1208297049
|
|
NM_001164508.2(NEB):c.2836-3del
|
|
|
NM_001164508.2(NEB):c.2836-9G>A
|
rs2099429989
|
|
NM_001164508.2(NEB):c.283C>A (p.Leu95Ile)
|
|
|
NM_001164508.2(NEB):c.2855A>G (p.Tyr952Cys)
|
|
|
NM_001164508.2(NEB):c.2856C>T (p.Tyr952=)
|
rs2148736842
|
|
NM_001164508.2(NEB):c.2858A>G (p.Asn953Ser)
|
|
|
NM_001164508.2(NEB):c.2859T>G (p.Asn953Lys)
|
|
|
NM_001164508.2(NEB):c.285T>C (p.Leu95=)
|
|
|
NM_001164508.2(NEB):c.2866A>T (p.Met956Leu)
|
|
|
NM_001164508.2(NEB):c.2874T>C (p.Gly958=)
|
|
|
NM_001164508.2(NEB):c.2875_2877del (p.Cys959del)
|
rs766232587
|
|
NM_001164508.2(NEB):c.2880_2883del (p.Trp961fs)
|
rs2148735901
|
|
NM_001164508.2(NEB):c.2882G>A (p.Trp961Ter)
|
|
|
NM_001164508.2(NEB):c.2884G>A (p.Val962Met)
|
|
|
NM_001164508.2(NEB):c.288del (p.Phe96fs)
|
rs2150918170
|
|
NM_001164508.2(NEB):c.2895G>A (p.Gly965=)
|
rs761681205
|
|
NM_001164508.2(NEB):c.2896T>A (p.Ser966Thr)
|
|
|
NM_001164508.2(NEB):c.2904A>G (p.Glu968=)
|
rs2099429615
|
|
NM_001164508.2(NEB):c.2906T>G (p.Met969Arg)
|
rs2099429603
|
|
NM_001164508.2(NEB):c.2919G>A (p.Lys973=)
|
|
|
NM_001164508.2(NEB):c.2921G>T (p.Arg974Leu)
|
rs368642083
|
|
NM_001164508.2(NEB):c.2921_2924del (p.Arg974fs)
|
|
|
NM_001164508.2(NEB):c.2934C>A (p.Ile978=)
|
|
|
NM_001164508.2(NEB):c.2934C>T (p.Ile978=)
|
|
|
NM_001164508.2(NEB):c.294+10A>T
|
|
|
NM_001164508.2(NEB):c.294+12A>G
|
|
|
NM_001164508.2(NEB):c.294+20T>C
|
|
|
NM_001164508.2(NEB):c.294+9C>A
|
|
|
NM_001164508.2(NEB):c.2942A>G (p.Glu981Gly)
|
rs1225494274
|
|
NM_001164508.2(NEB):c.2943+12G>C
|
|
|
NM_001164508.2(NEB):c.2943+13G>A
|
|
|
NM_001164508.2(NEB):c.2943+13G>C
|
|
|
NM_001164508.2(NEB):c.2943+15T>A
|
|
|
NM_001164508.2(NEB):c.2943+5dup
|
rs2099429370
|
|
NM_001164508.2(NEB):c.2943+9A>G
|
rs934975132
|
|
NM_001164508.2(NEB):c.2943G>A (p.Glu981=)
|
rs398124170
|
|
NM_001164508.2(NEB):c.2944-17T>C
|
|
|
NM_001164508.2(NEB):c.2944-1G>A
|
rs1553542669
|
|
NM_001164508.2(NEB):c.2944-20C>G
|
|
|
NM_001164508.2(NEB):c.2944-20_2944-19del
|
rs2099408915
|
|
NM_001164508.2(NEB):c.2944-5A>C
|
|
|
NM_001164508.2(NEB):c.295-11A>G
|
|
|
NM_001164508.2(NEB):c.295-16C>G
|
|
|
NM_001164508.2(NEB):c.295-19T>C
|
rs1012626849
|
|
NM_001164508.2(NEB):c.295-1G>T
|
rs111300270
|
|
NM_001164508.2(NEB):c.295-9T>C
|
|
|
NM_001164508.2(NEB):c.2951dup (p.Tyr984Ter)
|
|
|
NM_001164508.2(NEB):c.2952T>C (p.Tyr984=)
|
rs2148652653
|
|
NM_001164508.2(NEB):c.2953C>T (p.Arg985Cys)
|
|
|
NM_001164508.2(NEB):c.2956C>T (p.Gln986Ter)
|
|
|
NM_001164508.2(NEB):c.2957A>G (p.Gln986Arg)
|
rs781465553
|
|
NM_001164508.2(NEB):c.2967C>T (p.Asp989=)
|
rs2148652021
|
|
NM_001164508.2(NEB):c.296A>T (p.Asn99Ile)
|
|
|
NM_001164508.2(NEB):c.2970C>T (p.Thr990=)
|
rs747505579
|
|
NM_001164508.2(NEB):c.2975A>T (p.Lys992Met)
|
|
|
NM_001164508.2(NEB):c.2976G>A (p.Lys992=)
|
rs2148651722
|
|
NM_001164508.2(NEB):c.297T>C (p.Asn99=)
|
|
|
NM_001164508.2(NEB):c.2982C>G (p.Thr994=)
|
rs915137065
|
|
NM_001164508.2(NEB):c.2984C>T (p.Ser995Leu)
|
|
|
NM_001164508.2(NEB):c.2985G>T (p.Ser995=)
|
rs574544074
|
|
NM_001164508.2(NEB):c.2987T>A (p.Ile996Asn)
|
|
|
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr)
|
rs753691207
|
|
NM_001164508.2(NEB):c.2988T>C (p.Ile996=)
|
rs2148651197
|
|
NM_001164508.2(NEB):c.2998C>G (p.Pro1000Ala)
|
rs763910385
|
|
NM_001164508.2(NEB):c.3000A>G (p.Pro1000=)
|
rs2148650754
|
|
NM_001164508.2(NEB):c.3001A>G (p.Ile1001Val)
|
|
|
NM_001164508.2(NEB):c.3009A>G (p.Val1003=)
|
rs1246812656
|
|
NM_001164508.2(NEB):c.3018_3019insCATCT (p.Ile1007fs)
|
|
|
NM_001164508.2(NEB):c.3022A>G (p.Asn1008Asp)
|
rs1576128802
|
|
NM_001164508.2(NEB):c.3024C>T (p.Asn1008=)
|
rs1273538969
|
|
NM_001164508.2(NEB):c.3025C>T (p.Gln1009Ter)
|
|
|
NM_001164508.2(NEB):c.3027G>A (p.Gln1009=)
|
rs2148649753
|
|
NM_001164508.2(NEB):c.3028G>A (p.Ala1010Thr)
|
|
|
NM_001164508.2(NEB):c.3028G>C (p.Ala1010Pro)
|
rs770003609
|
|
NM_001164508.2(NEB):c.3030C>A (p.Ala1010=)
|
rs2148649456
|
|
NM_001164508.2(NEB):c.3036G>A (p.Arg1012=)
|
rs2148649309
|
|
NM_001164508.2(NEB):c.3042+12T>C
|
rs2099408260
|
|
NM_001164508.2(NEB):c.3042+13_3042+15del
|
rs2099408213
|
|
NM_001164508.2(NEB):c.3042+14C>T
|
|
|
NM_001164508.2(NEB):c.3042+16A>G
|
|
|
NM_001164508.2(NEB):c.3042+1G>A
|
rs2099408391
|
|
NM_001164508.2(NEB):c.3042+1G>T
|
|
|
NM_001164508.2(NEB):c.3042+20A>G
|
|
|
NM_001164508.2(NEB):c.3042+3_3042+6del
|
rs2099408346
|
|
NM_001164508.2(NEB):c.3043-14T>G
|
|
|
NM_001164508.2(NEB):c.3043-16dup
|
rs760628422
|
|
NM_001164508.2(NEB):c.3043-17A>T
|
|
|
NM_001164508.2(NEB):c.3043-1G>A
|
rs113326313
|
|
NM_001164508.2(NEB):c.3043-8T>A
|
|
|
NM_001164508.2(NEB):c.3045C>T (p.Ile1015=)
|
rs773307085
|
|
NM_001164508.2(NEB):c.3046G>A (p.Ala1016Thr)
|
|
|
NM_001164508.2(NEB):c.3047C>T (p.Ala1016Val)
|
rs2148609477
|
|
NM_001164508.2(NEB):c.306G>A (p.Lys102=)
|
rs751951834
|
|
NM_001164508.2(NEB):c.306G>C (p.Lys102Asn)
|
|
|
NM_001164508.2(NEB):c.3071T>C (p.Ile1024Thr)
|
|
|
NM_001164508.2(NEB):c.3072T>A (p.Ile1024=)
|
rs1361252038
|
|
NM_001164508.2(NEB):c.3072T>C (p.Ile1024=)
|
rs1361252038
|
|
NM_001164508.2(NEB):c.3076C>T (p.His1026Tyr)
|
|
|
NM_001164508.2(NEB):c.307G>C (p.Glu103Gln)
|
|
|
NM_001164508.2(NEB):c.3084C>G (p.Tyr1028Ter)
|
rs2099402392
|
|
NM_001164508.2(NEB):c.3084C>T (p.Tyr1028=)
|
rs2099402392
|
|
NM_001164508.2(NEB):c.3085A>C (p.Asn1029His)
|
|
|
NM_001164508.2(NEB):c.3088C>T (p.Leu1030=)
|
|
|
NM_001164508.2(NEB):c.3096del (p.Asp1033fs)
|
|
|
NM_001164508.2(NEB):c.3098A>G (p.Asp1033Gly)
|
|
|
NM_001164508.2(NEB):c.3101T>C (p.Leu1034Pro)
|
|
|
NM_001164508.2(NEB):c.3102G>T (p.Leu1034=)
|
|
|
NM_001164508.2(NEB):c.3117G>A (p.Gln1039=)
|
rs2148607009
|
|
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup)
|
rs1288870299
|
|
NM_001164508.2(NEB):c.312G>A (p.Lys104=)
|
|
|
NM_001164508.2(NEB):c.3136A>G (p.Asn1046Asp)
|
rs200564629
|
|
NM_001164508.2(NEB):c.3136A>T (p.Asn1046Tyr)
|
rs200564629
|
|
NM_001164508.2(NEB):c.3141C>T (p.Ile1047=)
|
|
|
NM_001164508.2(NEB):c.3147+11G>A
|
|
|
NM_001164508.2(NEB):c.3147+12G>T
|
|
|
NM_001164508.2(NEB):c.3147+14C>T
|
|
|
NM_001164508.2(NEB):c.3147+19G>A
|
|
|
NM_001164508.2(NEB):c.3147+1del
|
rs1553539777
|
|
NM_001164508.2(NEB):c.3147+5G>T
|
|
|
NM_001164508.2(NEB):c.3147+8G>A
|
|
|
NM_001164508.2(NEB):c.3148-14C>A
|
|
|
NM_001164508.2(NEB):c.3148-19A>G
|
rs2148599601
|
|
NM_001164508.2(NEB):c.3148-3C>A
|
|
|
NM_001164508.2(NEB):c.3148-7C>A
|
|
|
NM_001164508.2(NEB):c.3148-8T>G
|
|
|
NM_001164508.2(NEB):c.3154T>C (p.Tyr1052His)
|
rs1553539456
|
|
NM_001164508.2(NEB):c.3156C>T (p.Tyr1052=)
|
rs1386755643
|
|
NM_001164508.2(NEB):c.3165C>G (p.Asp1055Glu)
|
|
|
NM_001164508.2(NEB):c.3175T>C (p.Leu1059=)
|
rs1449746588
|
|
NM_001164508.2(NEB):c.3178_3179del (p.Ser1060fs)
|
|
|
NM_001164508.2(NEB):c.3179G>A (p.Ser1060Asn)
|
|
|
NM_001164508.2(NEB):c.3181A>T (p.Lys1061Ter)
|
|
|
NM_001164508.2(NEB):c.3183G>C (p.Lys1061Asn)
|
|
|
NM_001164508.2(NEB):c.3186G>A (p.Lys1062=)
|
|
|
NM_001164508.2(NEB):c.3187G>T (p.Gly1063Ter)
|
|
|
NM_001164508.2(NEB):c.3190T>A (p.Tyr1064Asn)
|
rs2148596836
|
|
NM_001164508.2(NEB):c.31G>T (p.Val11Leu)
|
|
|
NM_001164508.2(NEB):c.3204T>C (p.Thr1068=)
|
rs2148596361
|
|
NM_001164508.2(NEB):c.3207T>C (p.Asp1069=)
|
rs1419430871
|
|
NM_001164508.2(NEB):c.3209C>G (p.Ala1070Gly)
|
rs371710158
|
|
NM_001164508.2(NEB):c.3209C>T (p.Ala1070Val)
|
rs371710158
|
|
NM_001164508.2(NEB):c.3210G>T (p.Ala1070=)
|
|
|
NM_001164508.2(NEB):c.3218_3226dup (p.Ala1075_Ala1076insValArgAla)
|
rs1553539039
|
|
NM_001164508.2(NEB):c.3219C>T (p.Ile1073=)
|
|
|
NM_001164508.2(NEB):c.321A>G (p.Lys107=)
|
rs2150799276
|
|
NM_001164508.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup)
|
rs1553539015
|
|
NM_001164508.2(NEB):c.3223G>A (p.Ala1075Thr)
|
|
|
NM_001164508.2(NEB):c.3230A>G (p.Lys1077Arg)
|
rs2099400877
|
|
NM_001164508.2(NEB):c.3235G>T (p.Ala1079Ser)
|
rs1576082029
|
|
NM_001164508.2(NEB):c.3238_3239insAACCTGCCA (p.Ala1079_Arg1080insLysProAla)
|
rs2099400833
|
|
NM_001164508.2(NEB):c.3241C>A (p.Gln1081Lys)
|
|
|
NM_001164508.2(NEB):c.3252T>C (p.Ser1084=)
|
rs1576081225
|
|
NM_001164508.2(NEB):c.3252_3255+3del
|
rs1559168230
|
|
NM_001164508.2(NEB):c.3253G>A (p.Asp1085Asn)
|
rs2099400725
|
|
NM_001164508.2(NEB):c.3255+16G>T
|
|
|
NM_001164508.2(NEB):c.3255+18C>T
|
|
|
NM_001164508.2(NEB):c.3255+1G>C
|
rs375628303
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
NM_001164508.2(NEB):c.3255+1del
|
rs1553538835
|
|
NM_001164508.2(NEB):c.3255+9A>G
|
|
|
NM_001164508.2(NEB):c.3256-11G>A
|
|
|
NM_001164508.2(NEB):c.3256-11G>T
|
|
|
NM_001164508.2(NEB):c.3256-12T>C
|
|
|
NM_001164508.2(NEB):c.3256-15C>A
|
rs765679622
|
|
NM_001164508.2(NEB):c.3256-15C>T
|
|
|
NM_001164508.2(NEB):c.3256-19C>T
|
|
|
NM_001164508.2(NEB):c.3256-5A>C
|
|
|
NM_001164508.2(NEB):c.3264C>T (p.Tyr1088=)
|
|
|
NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer)
|
rs2099386637
|
|
NM_001164508.2(NEB):c.3267A>G (p.Lys1089=)
|
rs2148501395
|
|
NM_001164508.2(NEB):c.3270del (p.Asp1091fs)
|
rs2099386610
|
|
NM_001164508.2(NEB):c.3270dup (p.Asp1091fs)
|
|
|
NM_001164508.2(NEB):c.3271G>T (p.Asp1091Tyr)
|
|
|
NM_001164508.2(NEB):c.3277G>T (p.Glu1093Ter)
|
|
|
NM_001164508.2(NEB):c.3286A>G (p.Lys1096Glu)
|
|
|
NM_001164508.2(NEB):c.329G>C (p.Gly110Ala)
|
|
|
NM_001164508.2(NEB):c.330A>G (p.Gly110=)
|
|
|
NM_001164508.2(NEB):c.3318A>G (p.Gln1106=)
|
|
|
NM_001164508.2(NEB):c.331C>T (p.Gln111Ter)
|
|
|
NM_001164508.2(NEB):c.3320A>T (p.Asp1107Val)
|
|
|
NM_001164508.2(NEB):c.3328A>T (p.Lys1110Ter)
|
|
|
NM_001164508.2(NEB):c.3330A>G (p.Lys1110=)
|
|
|
NM_001164508.2(NEB):c.3330del (p.Lys1110fs)
|
|
|
NM_001164508.2(NEB):c.3331C>T (p.Leu1111=)
|
|
|
NM_001164508.2(NEB):c.3338_3339insATGTC (p.His1113fs)
|
|
|
NM_001164508.2(NEB):c.333G>A (p.Gln111=)
|
|
|
NM_001164508.2(NEB):c.3342T>A (p.Tyr1114Ter)
|
|
|
NM_001164508.2(NEB):c.3352G>T (p.Ala1118Ser)
|
rs1225381477
|
|
NM_001164508.2(NEB):c.3362A>G (p.Gln1121Arg)
|
rs1559152642
|
|
NM_001164508.2(NEB):c.3363A>G (p.Gln1121=)
|
rs370560340
|
|
NM_001164508.2(NEB):c.3363A>T (p.Gln1121His)
|
|
|
NM_001164508.2(NEB):c.3366A>C (p.Ser1122=)
|
|
|
NM_001164508.2(NEB):c.3373G>T (p.Glu1125Ter)
|
|
|
NM_001164508.2(NEB):c.3378T>C (p.Tyr1126=)
|
rs2148497319
|
|
NM_001164508.2(NEB):c.3382A>T (p.Lys1128Ter)
|
|
|
NM_001164508.2(NEB):c.3383_3384del (p.Lys1128fs)
|
|
|
NM_001164508.2(NEB):c.3384del (p.Asp1129fs)
|
rs2099386045
|
|
NM_001164508.2(NEB):c.3389A>G (p.Tyr1130Cys)
|
|
|
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer)
|
rs1159756073
|
|
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)
|
|
|
NM_001164508.2(NEB):c.3394_3395insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATGAGA (p.Lys1132delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysArgLeuTer)
|
|
|
NM_001164508.2(NEB):c.3396G>A (p.Lys1132=)
|
|
|
NM_001164508.2(NEB):c.3397A>G (p.Thr1133Ala)
|
rs1294520829
|
|
NM_001164508.2(NEB):c.3400_3401del (p.Lys1134fs)
|
rs2148495720
|
|
NM_001164508.2(NEB):c.3401del (p.Lys1134fs)
|
|
|
NM_001164508.2(NEB):c.3402G>A (p.Lys1134=)
|
rs1376146835
|
|
NM_001164508.2(NEB):c.3405C>T (p.Ser1135=)
|
rs2148495367
|
|
NM_001164508.2(NEB):c.3417G>A (p.Thr1139=)
|
rs372593815
|
|
NM_001164508.2(NEB):c.3417G>C (p.Thr1139=)
|
rs372593815
|
|
NM_001164508.2(NEB):c.3417G>T (p.Thr1139=)
|
rs372593815
|
|
NM_001164508.2(NEB):c.341C>T (p.Ala114Val)
|
|
|
NM_001164508.2(NEB):c.3420C>T (p.Pro1140=)
|
|
|
NM_001164508.2(NEB):c.3423T>C (p.His1141=)
|
|
|
NM_001164508.2(NEB):c.3424G>A (p.Asp1142Asn)
|
rs747102490
|
|
NM_001164508.2(NEB):c.3428T>A (p.Met1143Lys)
|
rs1428000725
|
|
NM_001164508.2(NEB):c.3432_3433del (p.Phe1144fs)
|
|
|
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu)
|
rs200637566
|
|
NM_001164508.2(NEB):c.3444G>C (p.Ala1148=)
|
rs375569766
|
|
NM_001164508.2(NEB):c.3445G>T (p.Ala1149Ser)
|
rs752178904
|
|
NM_001164508.2(NEB):c.3447T>C (p.Ala1149=)
|
|
|
NM_001164508.2(NEB):c.3448A>T (p.Lys1150Ter)
|
|
|
NM_001164508.2(NEB):c.3453A>G (p.Lys1151=)
|
|
|
NM_001164508.2(NEB):c.3456C>G (p.Ala1152=)
|
rs1020491664
|
|
NM_001164508.2(NEB):c.3459G>A (p.Gln1153=)
|
|
|
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs)
|
rs1463906422
|
|
NM_001164508.2(NEB):c.3474T>C (p.Asn1158=)
|
|
|
NM_001164508.2(NEB):c.3474T>G (p.Asn1158Lys)
|
|
|
NM_001164508.2(NEB):c.3477C>T (p.Val1159=)
|
rs2154210477
|
|
NM_001164508.2(NEB):c.3480C>T (p.Asn1160=)
|
|
|
NM_001164508.2(NEB):c.3495C>T (p.Leu1165=)
|
|
|
NM_001164508.2(NEB):c.3500A>G (p.His1167Arg)
|
rs2154210444
|
|
NM_001164508.2(NEB):c.3501T>C (p.His1167=)
|
|
|
NM_001164508.2(NEB):c.3504C>T (p.Tyr1168=)
|
|
|
NM_001164508.2(NEB):c.3510C>T (p.Tyr1170=)
|
|
|
NM_001164508.2(NEB):c.3516T>C (p.Pro1172=)
|
|
|
NM_001164508.2(NEB):c.3527A>G (p.Asp1176Gly)
|
|
|
NM_001164508.2(NEB):c.3529C>T (p.Leu1177=)
|
|
|
NM_001164508.2(NEB):c.352G>T (p.Asp118Tyr)
|
|
|
NM_001164508.2(NEB):c.3537G>C (p.Leu1179=)
|
|
|
NM_001164508.2(NEB):c.3541A>G (p.Lys1181Glu)
|
|
|
NM_001164508.2(NEB):c.3545_3547del (p.Asn1182del)
|
rs1553534580
|
|
NM_001164508.2(NEB):c.3546C>T (p.Asn1182=)
|
|
|
NM_001164508.2(NEB):c.3551T>C (p.Met1184Thr)
|
rs1308063415
|
|
NM_001164508.2(NEB):c.3552G>A (p.Met1184Ile)
|
|
|
NM_001164508.2(NEB):c.3553C>T (p.Gln1185Ter)
|
|
|
NM_001164508.2(NEB):c.3562_3563del (p.Gln1187_Ser1188insTer)
|
rs2154210386
|
|
NM_001164508.2(NEB):c.3567+10A>G
|
|
|
NM_001164508.2(NEB):c.3567+1G>A
|
rs587780399
|
|
NM_001164508.2(NEB):c.3567+1G>C
|
rs587780399
|
|
NM_001164508.2(NEB):c.3567+3_3567+6del
|
rs1553534336
|
|
NM_001164508.2(NEB):c.3567+9C>T
|
rs900791990
|
|
NM_001164508.2(NEB):c.3568-15_3568-14insGCCCTCACTCCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_001164508.2(NEB):c.3568-16T>C
|
|
|
NM_001164508.2(NEB):c.3568-4G>A
|
|
|
NM_001164508.2(NEB):c.3573C>T (p.Val1191=)
|
rs2154210026
|
|
NM_001164508.2(NEB):c.357T>G (p.Thr119=)
|
|
|
NM_001164508.2(NEB):c.3585C>T (p.Asp1195=)
|
rs773399820
|
|
NM_001164508.2(NEB):c.36+10A>T
|
rs751246882
|
|
NM_001164508.2(NEB):c.36+14A>C
|
|
|
NM_001164508.2(NEB):c.36+15_36+21del
|
|
|
NM_001164508.2(NEB):c.36+19A>G
|
|
|
NM_001164508.2(NEB):c.36+19del
|
|
|
NM_001164508.2(NEB):c.36+19dup
|
rs148527227
|
|
NM_001164508.2(NEB):c.36+1G>C
|
rs1553711195
|
|
NM_001164508.2(NEB):c.36+2dup
|
|
|
NM_001164508.2(NEB):c.36+4A>G
|
|
|
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter)
|
rs748453057
|
|
NM_001164508.2(NEB):c.3612C>T (p.Gly1204=)
|
|
|
NM_001164508.2(NEB):c.3616A>G (p.Ile1206Val)
|
|
|
NM_001164508.2(NEB):c.3618T>C (p.Ile1206=)
|
|
|
NM_001164508.2(NEB):c.3630T>C (p.Ser1210=)
|
|
|
NM_001164508.2(NEB):c.3630T>G (p.Ser1210Arg)
|
|
|
NM_001164508.2(NEB):c.3636C>A (p.Asp1212Glu)
|
|
|
NM_001164508.2(NEB):c.363A>G (p.Glu121=)
|
rs1577944014
|
|
NM_001164508.2(NEB):c.3642A>G (p.Glu1214=)
|
rs2154209881
|
|
NM_001164508.2(NEB):c.3648del (p.Lys1218fs)
|
|
|
NM_001164508.2(NEB):c.3649A>T (p.Lys1217Ter)
|
|
|
NM_001164508.2(NEB):c.3653del (p.Lys1218fs)
|
|
|
NM_001164508.2(NEB):c.3662A>G (p.Asp1221Gly)
|
|
|
NM_001164508.2(NEB):c.3664G>T (p.Ala1222Ser)
|
|
|
NM_001164508.2(NEB):c.3664del (p.Ala1222fs)
|
|
|
NM_001164508.2(NEB):c.3669G>A (p.Leu1223=)
|
|
|
NM_001164508.2(NEB):c.3669G>C (p.Leu1223=)
|
rs762989771
|
|
NM_001164508.2(NEB):c.3669G>T (p.Leu1223=)
|
|
|
NM_001164508.2(NEB):c.3676AAG[1] (p.Lys1227del)
|
rs1553532187
|
|
NM_001164508.2(NEB):c.3677A>G (p.Lys1226Arg)
|
rs2099381015
|
|
NM_001164508.2(NEB):c.3679A>T (p.Lys1227Ter)
|
|
|
NM_001164508.2(NEB):c.3681G>A (p.Lys1227=)
|
rs2154209764
|
|
NM_001164508.2(NEB):c.3681G>T (p.Lys1227Asn)
|
|
|
NM_001164508.2(NEB):c.3690A>G (p.Gln1230=)
|
rs1575989207
|
|
NM_001164508.2(NEB):c.3691del (p.His1231fs)
|
|
|
NM_001164508.2(NEB):c.3694C>G (p.Pro1232Ala)
|
rs776796255
|
|
NM_001164508.2(NEB):c.3698A>G (p.Asp1233Gly)
|
|
|
NM_001164508.2(NEB):c.37-10C>T
|
|
|
NM_001164508.2(NEB):c.37-13G>A
|
|
|
NM_001164508.2(NEB):c.37-15G>A
|
|
|
NM_001164508.2(NEB):c.37-19C>G
|
|
|
NM_001164508.2(NEB):c.37-1G>C
|
rs1428597732
|
|
NM_001164508.2(NEB):c.37-7T>C
|
rs2150995508
|
|
NM_001164508.2(NEB):c.3700A>G (p.Thr1234Ala)
|
|
|
NM_001164508.2(NEB):c.3702C>T (p.Thr1234=)
|
rs2099380409
|
|
NM_001164508.2(NEB):c.3705C>G (p.Leu1235=)
|
|
|
NM_001164508.2(NEB):c.3708A>G (p.Lys1236=)
|
rs1195608343
|
|
NM_001164508.2(NEB):c.3708A>T (p.Lys1236Asn)
|
|
|
NM_001164508.2(NEB):c.3713C>T (p.Thr1238Ile)
|
rs1311528896
|
|
NM_001164508.2(NEB):c.3714C>G (p.Thr1238=)
|
|
|
NM_001164508.2(NEB):c.3714C>T (p.Thr1238=)
|
|
|
NM_001164508.2(NEB):c.3715A>C (p.Ser1239Arg)
|
rs759109957
|
|
NM_001164508.2(NEB):c.3717C>G (p.Ser1239Arg)
|
rs765671775
|
|
NM_001164508.2(NEB):c.371G>C (p.Arg124Thr)
|
|
|
NM_001164508.2(NEB):c.3724G>A (p.Asp1242Asn)
|
|
|
NM_001164508.2(NEB):c.3729C>T (p.Ser1243=)
|
|
|
NM_001164508.2(NEB):c.3731del (p.Pro1244fs)
|
rs2154209597
|
|
NM_001164508.2(NEB):c.3732A>G (p.Pro1244=)
|
rs1282060717
|
|
NM_001164508.2(NEB):c.3739G>T (p.Val1247Phe)
|
|
|
NM_001164508.2(NEB):c.3744G>A (p.Gln1248=)
|
|
|
NM_001164508.2(NEB):c.3751C>G (p.Gln1251Glu)
|
|
|
NM_001164508.2(NEB):c.3759G>T (p.Thr1253=)
|
|
|
NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del)
|
rs1553531184
|
|
NM_001164508.2(NEB):c.375C>A (p.Ile125=)
|
rs753284331
|
|
NM_001164508.2(NEB):c.3762G>A (p.Lys1254=)
|
|
|
NM_001164508.2(NEB):c.3774+13A>G
|
rs2154209411
|
|
NM_001164508.2(NEB):c.3774+15del
|
|
|
NM_001164508.2(NEB):c.3774+17A>G
|
|
|
NM_001164508.2(NEB):c.3774+1G>A
|
rs111293259
|
|
NM_001164508.2(NEB):c.3774+20G>A
|
|
|
NM_001164508.2(NEB):c.3774+2T>C
|
rs1553531049
|
|
NM_001164508.2(NEB):c.3774+4A>C
|
rs1026503983
|
|
NM_001164508.2(NEB):c.3774+8C>A
|
|
|
NM_001164508.2(NEB):c.3774+8C>T
|
rs994987584
|
|
NM_001164508.2(NEB):c.3775-15T>C
|
|
|
NM_001164508.2(NEB):c.3775-4G>A
|
rs1158268058
|
|
NM_001164508.2(NEB):c.3776T>C (p.Ile1259Thr)
|
rs1553522143
|
|
NM_001164508.2(NEB):c.3777C>A (p.Ile1259=)
|
|
|
NM_001164508.2(NEB):c.3778T>C (p.Leu1260=)
|
rs886038452
|
|
NM_001164508.2(NEB):c.3780_3782delinsT (p.Leu1260fs)
|
|
|
NM_001164508.2(NEB):c.3784A>G (p.Lys1262Glu)
|
|
|
NM_001164508.2(NEB):c.3786G>A (p.Lys1262=)
|
rs112229327
|
|
NM_001164508.2(NEB):c.3786G>T (p.Lys1262Asn)
|
|
|
NM_001164508.2(NEB):c.3788C>A (p.Ala1263Asp)
|
rs1575886894
|
|
NM_001164508.2(NEB):c.3789T>C (p.Ala1263=)
|
|
|
NM_001164508.2(NEB):c.3795AGA[1] (p.Glu1266del)
|
rs1553522046
|
|
NM_001164508.2(NEB):c.3807A>C (p.Lys1269Asn)
|
|
|
NM_001164508.2(NEB):c.3807A>G (p.Lys1269=)
|
|
|
NM_001164508.2(NEB):c.3815A>G (p.Tyr1272Cys)
|
rs925465070
|
|
NM_001164508.2(NEB):c.3817A>G (p.Thr1273Ala)
|
|
|
NM_001164508.2(NEB):c.381A>G (p.Lys127=)
|
rs2150795979
|
|
NM_001164508.2(NEB):c.3827C>G (p.Pro1276Arg)
|
|
|
NM_001164508.2(NEB):c.3843del (p.Leu1282fs)
|
rs2154199737
|
|
NM_001164508.2(NEB):c.3846C>T (p.Leu1282=)
|
|
|
NM_001164508.2(NEB):c.3853A>G (p.Lys1285Glu)
|
|
|
NM_001164508.2(NEB):c.3855G>A (p.Lys1285=)
|
rs2154199724
|
|
NM_001164508.2(NEB):c.3858C>A (p.Cys1286Ter)
|
rs1386238241
|
|
NM_001164508.2(NEB):c.3860dup (p.Asn1287fs)
|
|
|
NM_001164508.2(NEB):c.3861T>C (p.Asn1287=)
|
|
|
NM_001164508.2(NEB):c.3862G>A (p.Ala1288Thr)
|
rs775943165
|
|
NM_001164508.2(NEB):c.3862G>T (p.Ala1288Ser)
|
|
|
NM_001164508.2(NEB):c.3864T>C (p.Ala1288=)
|
rs768145490
|
|
NM_001164508.2(NEB):c.3869A>G (p.Asn1290Ser)
|
|
|
NM_001164508.2(NEB):c.3871A>G (p.Ile1291Val)
|
|
|
NM_001164508.2(NEB):c.3872_3873insTCTAA (p.Ser1292fs)
|
|
|
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly)
|
rs1553521537
|
|
NM_001164508.2(NEB):c.3879+12C>T
|
|
|
NM_001164508.2(NEB):c.3879+2T>C
|
rs2099350888
|
|
NM_001164508.2(NEB):c.3879+2dup
|
rs2099350895
|
|
NM_001164508.2(NEB):c.3879C>T (p.Asp1293=)
|
|
|
NM_001164508.2(NEB):c.387A>G (p.Gln129=)
|
rs755228645
|
|
NM_001164508.2(NEB):c.3880-12dup
|
rs2099344412
|
|
NM_001164508.2(NEB):c.3880-1G>T
|
rs1057516381
|
|
NM_001164508.2(NEB):c.3880-20C>G
|
|
|
NM_001164508.2(NEB):c.3880-2A>G
|
rs1342507012
|
|
NM_001164508.2(NEB):c.3880-4C>G
|
rs1215078103
|
|
NM_001164508.2(NEB):c.3889A>T (p.Lys1297Ter)
|
|
|
NM_001164508.2(NEB):c.3892C>A (p.Arg1298=)
|
rs766892385
|
|
NM_001164508.2(NEB):c.3892C>T (p.Arg1298Trp)
|
|
|
NM_001164508.2(NEB):c.3893G>A (p.Arg1298Gln)
|
|
|
NM_001164508.2(NEB):c.3896A>T (p.Asp1299Val)
|
|
|
NM_001164508.2(NEB):c.3897T>C (p.Asp1299=)
|
rs2154198185
|
|
NM_001164508.2(NEB):c.3902A>G (p.Tyr1301Cys)
|
|
|
NM_001164508.2(NEB):c.3906C>T (p.Asp1302=)
|
rs2099344073
|
|
NM_001164508.2(NEB):c.3910A>G (p.Ile1304Val)
|
|
|
NM_001164508.2(NEB):c.3911T>A (p.Ile1304Lys)
|
|
|
NM_001164508.2(NEB):c.3918G>T (p.Lys1306Asn)
|
|
|
NM_001164508.2(NEB):c.3920G>A (p.Gly1307Asp)
|
|
|
NM_001164508.2(NEB):c.3924C>T (p.Asn1308=)
|
|
|
NM_001164508.2(NEB):c.3930G>A (p.Val1310=)
|
|
|
NM_001164508.2(NEB):c.3933G>A (p.Leu1311=)
|
|
|
NM_001164508.2(NEB):c.3938A>G (p.Asp1313Gly)
|
rs2154198103
|
|
NM_001164508.2(NEB):c.393A>G (p.Gln131=)
|
rs2150795278
|
|
NM_001164508.2(NEB):c.3940G>A (p.Ala1314Thr)
|
rs2154198100
|
|
NM_001164508.2(NEB):c.3943A>G (p.Ile1315Val)
|
|
|
NM_001164508.2(NEB):c.3943_3945delinsTGG (p.Ile1315Trp)
|
|
|
NM_001164508.2(NEB):c.394C>T (p.Leu132Phe)
|
rs2099787743
|
|
NM_001164508.2(NEB):c.3954T>C (p.Thr1318=)
|
rs2154198083
|
|
NM_001164508.2(NEB):c.3966A>G (p.Ala1322=)
|
|
|
NM_001164508.2(NEB):c.3969G>C (p.Ser1323=)
|
rs933068354
|
|
NM_001164508.2(NEB):c.3978T>A (p.Ile1326=)
|
|
|
NM_001164508.2(NEB):c.3987+10A>C
|
|
|
NM_001164508.2(NEB):c.3987+12T>G
|
|
|
NM_001164508.2(NEB):c.3987+17G>C
|
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
NM_001164508.2(NEB):c.3987+7A>T
|
|
|
NM_001164508.2(NEB):c.3988-17C>T
|
|
|
NM_001164508.2(NEB):c.3988-19C>T
|
|
|
NM_001164508.2(NEB):c.3988-1G>A
|
rs1553517128
|
|
NM_001164508.2(NEB):c.3988-2A>G
|
rs924831918
|
|
NM_001164508.2(NEB):c.3988-4A>G
|
rs2154193957
|
|
NM_001164508.2(NEB):c.3988-7T>C
|
|
|
NM_001164508.2(NEB):c.3988-9C>T
|
rs753291655
|
|
NM_001164508.2(NEB):c.3990T>C (p.Tyr1330=)
|
rs2154193939
|
|
NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter)
|
rs1559093497
|
|
NM_001164508.2(NEB):c.3997A>T (p.Lys1333Ter)
|
|
|
NM_001164508.2(NEB):c.39C>G (p.Tyr13Ter)
|
|
|
NM_001164508.2(NEB):c.4008T>C (p.Tyr1336=)
|
rs2154193902
|
|
NM_001164508.2(NEB):c.4010A>G (p.Glu1337Gly)
|
rs921890762
|
|
NM_001164508.2(NEB):c.4011G>A (p.Glu1337=)
|
rs1314762146
|
|
NM_001164508.2(NEB):c.401A>G (p.Glu134Gly)
|
rs2150794998
|
|
NM_001164508.2(NEB):c.402+10A>G
|
rs1391326523
|
|
NM_001164508.2(NEB):c.402+11T>C
|
|
|
NM_001164508.2(NEB):c.402+12del
|
|
|
NM_001164508.2(NEB):c.402+13G>A
|
|
|
NM_001164508.2(NEB):c.402+1G>T
|
|
|
NM_001164508.2(NEB):c.402+4G>A
|
rs1162289427
|
|
NM_001164508.2(NEB):c.402+4_402+27del
|
|
|
NM_001164508.2(NEB):c.4027C>G (p.His1343Asp)
|
|
|
NM_001164508.2(NEB):c.4029T>A (p.His1343Gln)
|
|
|
NM_001164508.2(NEB):c.4029T>C (p.His1343=)
|
rs758866056
|
|
NM_001164508.2(NEB):c.403-13A>G
|
|
|
NM_001164508.2(NEB):c.403-15G>A
|
|
|
NM_001164508.2(NEB):c.403-16T>G
|
|
|
NM_001164508.2(NEB):c.403-17G>T
|
|
|
NM_001164508.2(NEB):c.403-18T>C
|
|
|
NM_001164508.2(NEB):c.403-1G>C
|
|
|
NM_001164508.2(NEB):c.403-2A>G
|
|
|
NM_001164508.2(NEB):c.403-6G>C
|
|
|
NM_001164508.2(NEB):c.403-6_405del
|
rs1553689774
|
|
NM_001164508.2(NEB):c.403-8T>C
|
rs1375474955
|
|
NM_001164508.2(NEB):c.403-9T>C
|
|
|
NM_001164508.2(NEB):c.4032G>A (p.Val1344=)
|
rs373748794
|
|
NM_001164508.2(NEB):c.4034G>A (p.Gly1345Asp)
|
|
|
NM_001164508.2(NEB):c.4042A>G (p.Ser1348Gly)
|
|
|
NM_001164508.2(NEB):c.4047C>G (p.Leu1349=)
|
|
|
NM_001164508.2(NEB):c.4047C>T (p.Leu1349=)
|
|
|
NM_001164508.2(NEB):c.4047_4048del (p.Gln1350fs)
|
|
|
NM_001164508.2(NEB):c.4066del (p.Val1356fs)
|
|
|
NM_001164508.2(NEB):c.4069del (p.His1357fs)
|
|
|
NM_001164508.2(NEB):c.4073A>G (p.Tyr1358Cys)
|
rs1223706560
|
|
NM_001164508.2(NEB):c.4075A>G (p.Met1359Val)
|
|
|
NM_001164508.2(NEB):c.4080T>C (p.Asn1360=)
|
rs766450256
|
|
NM_001164508.2(NEB):c.4090C>T (p.Leu1364=)
|
rs2154193747
|
|
NM_001164508.2(NEB):c.4091T>C (p.Leu1364Pro)
|
|
|
NM_001164508.2(NEB):c.4092G>A (p.Leu1364=)
|
|
|
NM_001164508.2(NEB):c.4092G>T (p.Leu1364=)
|
rs768820251
|
|
NM_001164508.2(NEB):c.4097C>A (p.Ser1366Tyr)
|
|
|
NM_001164508.2(NEB):c.4113G>A (p.Lys1371=)
|
|
|
NM_001164508.2(NEB):c.4119C>A (p.Asn1373Lys)
|
rs377653217
|
|
NM_001164508.2(NEB):c.4125G>A (p.Glu1375=)
|
rs199897201
|
|
NM_001164508.2(NEB):c.4128C>T (p.Asn1376=)
|
rs1340723785
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
NM_001164508.2(NEB):c.4131C>T (p.Thr1377=)
|
|
|
NM_001164508.2(NEB):c.4132A>T (p.Lys1378Ter)
|
rs2154193668
|
|
NM_001164508.2(NEB):c.4133A>G (p.Lys1378Arg)
|
|
|
NM_001164508.2(NEB):c.4137C>A (p.Thr1379=)
|
|
|
NM_001164508.2(NEB):c.4137C>T (p.Thr1379=)
|
rs1320711048
|
|
NM_001164508.2(NEB):c.413del (p.Arg138fs)
|
|
|
NM_001164508.2(NEB):c.4140C>T (p.Ser1380=)
|
|
|
NM_001164508.2(NEB):c.4144C>G (p.His1382Asp)
|
rs2099313352
|
|
NM_001164508.2(NEB):c.4145A>G (p.His1382Arg)
|
|
|
NM_001164508.2(NEB):c.4146T>C (p.His1382=)
|
|
|
NM_001164508.2(NEB):c.4148C>T (p.Thr1383Ile)
|
|
|
NM_001164508.2(NEB):c.4149C>A (p.Thr1383=)
|
|
|
NM_001164508.2(NEB):c.4151_4152insAGGAACACCAAAACCAGCTACCATACCCC (p.Asp1386fs)
|
|
|
NM_001164508.2(NEB):c.4154G>A (p.Gly1385Glu)
|
|
|
NM_001164508.2(NEB):c.4160T>C (p.Met1387Thr)
|
rs760822809
|
|
NM_001164508.2(NEB):c.4167C>T (p.Ser1389=)
|
rs772315688
|
|
NM_001164508.2(NEB):c.4185G>A (p.Met1395Ile)
|
|
|
NM_001164508.2(NEB):c.4186G>T (p.Ala1396Ser)
|
|
|
NM_001164508.2(NEB):c.4187C>T (p.Ala1396Val)
|
|
|
NM_001164508.2(NEB):c.4192G>T (p.Asp1398Tyr)
|
|
|
NM_001164508.2(NEB):c.4206T>C (p.Asn1402=)
|
|
|
NM_001164508.2(NEB):c.4209C>T (p.Val1403=)
|
rs1238068883
|
|
NM_001164508.2(NEB):c.4214A>G (p.Tyr1405Cys)
|
|
|
NM_001164508.2(NEB):c.4224A>G (p.Pro1408=)
|
rs2099312556
|
|
NM_001164508.2(NEB):c.422G>A (p.Gly141Asp)
|
rs973669056
|
|
NM_001164508.2(NEB):c.4235A>T (p.Tyr1412Phe)
|
|
|
NM_001164508.2(NEB):c.423T>G (p.Gly141=)
|
rs759036441
|
|
NM_001164508.2(NEB):c.4244T>A (p.Leu1415Gln)
|
rs2099312411
|
|
NM_001164508.2(NEB):c.4251C>A (p.Asp1417Glu)
|
|
|
NM_001164508.2(NEB):c.4256T>C (p.Met1419Thr)
|
|
|
NM_001164508.2(NEB):c.4264G>C (p.Glu1422Gln)
|
rs921972170
|
|
NM_001164508.2(NEB):c.4265A>C (p.Glu1422Ala)
|
|
|
NM_001164508.2(NEB):c.4265_4266del (p.Glu1422fs)
|
|
|
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu)
|
rs200590080
|
|
NM_001164508.2(NEB):c.426T>C (p.Asp142=)
|
rs200590080
|
|
NM_001164508.2(NEB):c.4272G>A (p.Thr1424=)
|
rs35654397
|
|
NM_001164508.2(NEB):c.4284T>C (p.Asn1428=)
|
rs2154193351
|
|
NM_001164508.2(NEB):c.4287A>G (p.Gln1429=)
|
rs1575774268
|
|
NM_001164508.2(NEB):c.4299+11G>T
|
|
|
NM_001164508.2(NEB):c.4299+13A>G
|
|
|
NM_001164508.2(NEB):c.4299+18C>T
|
|
|
NM_001164508.2(NEB):c.4299+4A>G
|
rs781754253
|
|
NM_001164508.2(NEB):c.42C>T (p.Tyr14=)
|
rs2150995013
|
|
NM_001164508.2(NEB):c.4300-10C>T
|
rs2154190857
|
|
NM_001164508.2(NEB):c.4300-11C>T
|
|
|
NM_001164508.2(NEB):c.4300-12A>G
|
|
|
NM_001164508.2(NEB):c.4300-15C>T
|
rs1342629658
|
|
NM_001164508.2(NEB):c.4300-18T>G
|
|
|
NM_001164508.2(NEB):c.4300-19T>C
|
|
|
NM_001164508.2(NEB):c.4300-1G>A
|
|
|
NM_001164508.2(NEB):c.4300-1G>C
|
|
|
NM_001164508.2(NEB):c.4300-2A>C
|
rs1553512813
|
|
NM_001164508.2(NEB):c.4300-3C>T
|
rs2154190807
|
|
NM_001164508.2(NEB):c.4300-4A>T
|
rs762231656
|
|
NM_001164508.2(NEB):c.4300-7T>C
|
rs1575736447
|
|
NM_001164508.2(NEB):c.4300-9C>T
|
rs2099282016
|
|
NM_001164508.2(NEB):c.4302T>C (p.Asn1434=)
|
rs2154190788
|
|
NM_001164508.2(NEB):c.4304T>C (p.Val1435Ala)
|
|
|
NM_001164508.2(NEB):c.4305G>T (p.Val1435=)
|
rs111241479
|
|
NM_001164508.2(NEB):c.4314C>T (p.Asp1438=)
|
rs1419373548
|
|
NM_001164508.2(NEB):c.4317G>A (p.Glu1439=)
|
|
|
NM_001164508.2(NEB):c.4323C>T (p.Asn1441=)
|
|
|
NM_001164508.2(NEB):c.4325G>T (p.Ser1442Ile)
|
|
|
NM_001164508.2(NEB):c.4329C>T (p.Phe1443=)
|
rs2099280911
|
|
NM_001164508.2(NEB):c.4330T>C (p.Leu1444=)
|
|
|
NM_001164508.2(NEB):c.4332G>A (p.Leu1444=)
|
|
|
NM_001164508.2(NEB):c.4333A>T (p.Lys1445Ter)
|
|
|
NM_001164508.2(NEB):c.4335G>A (p.Lys1445=)
|
|
|
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)
|
rs541803470
|
|
NM_001164508.2(NEB):c.4338C>T (p.Gly1446=)
|
|
|
NM_001164508.2(NEB):c.4339A>G (p.Ile1447Val)
|
|
|
NM_001164508.2(NEB):c.4342G>A (p.Gly1448Arg)
|
|
|
NM_001164508.2(NEB):c.4347G>A (p.Trp1449Ter)
|
rs2154190685
|
|
NM_001164508.2(NEB):c.4350C>T (p.Ile1450=)
|
rs1218846191
|
|
NM_001164508.2(NEB):c.4354A>C (p.Ile1452Leu)
|
|
|
NM_001164508.2(NEB):c.4354A>G (p.Ile1452Val)
|
|
|
NM_001164508.2(NEB):c.4355T>C (p.Ile1452Thr)
|
|
|
NM_001164508.2(NEB):c.4362C>T (p.Ser1454=)
|
rs2154190643
|
|
NM_001164508.2(NEB):c.4372G>A (p.Glu1458Lys)
|
rs1559073472
|
|
NM_001164508.2(NEB):c.4377G>A (p.Lys1459=)
|
|
|
NM_001164508.2(NEB):c.437C>T (p.Thr146Ile)
|
|
|
NM_001164508.2(NEB):c.4381A>C (p.Lys1461Gln)
|
|
|
NM_001164508.2(NEB):c.4384A>G (p.Lys1462Glu)
|
|
|
NM_001164508.2(NEB):c.4389A>G (p.Ala1463=)
|
|
|
NM_001164508.2(NEB):c.4392C>A (p.Gly1464=)
|
|
|
NM_001164508.2(NEB):c.4398A>T (p.Ala1466=)
|
rs368136951
|
|
NM_001164508.2(NEB):c.43A>G (p.Thr15Ala)
|
rs918736685
|
|
NM_001164508.2(NEB):c.4404T>C (p.Asn1468=)
|
|
|
NM_001164508.2(NEB):c.4408A>C (p.Arg1470=)
|
|
|
NM_001164508.2(NEB):c.4412A>C (p.Lys1471Thr)
|
|
|
NM_001164508.2(NEB):c.4415A>G (p.Tyr1472Cys)
|
|
|
NM_001164508.2(NEB):c.4417C>T (p.Arg1473Ter)
|
rs2099279723
|
|
NM_001164508.2(NEB):c.441A>G (p.Ile147Met)
|
rs2099785798
|
|
NM_001164508.2(NEB):c.4424A>G (p.His1475Arg)
|
rs2154190465
|
|
NM_001164508.2(NEB):c.4432A>G (p.Thr1478Ala)
|
rs2099279650
|
|
NM_001164508.2(NEB):c.4437C>G (p.Val1479=)
|
rs374440932
|
|
NM_001164508.2(NEB):c.4439A>C (p.Lys1480Thr)
|
|
|
NM_001164508.2(NEB):c.4448G>A (p.Ser1483Asn)
|
rs1417148362
|
|
NM_001164508.2(NEB):c.445del (p.His149fs)
|
rs2150762300
|
|
NM_001164508.2(NEB):c.4461C>T (p.Ser1487=)
|
rs753328294
|
|
NM_001164508.2(NEB):c.4462A>G (p.Met1488Val)
|
|
|
NM_001164508.2(NEB):c.4464G>A (p.Met1488Ile)
|
|
|
NM_001164508.2(NEB):c.4466G>T (p.Gly1489Val)
|
rs74482326
|
|
NM_001164508.2(NEB):c.446A>G (p.His149Arg)
|
rs2150762228
|
|
NM_001164508.2(NEB):c.4471G>T (p.Val1491Leu)
|
rs7426114
|
|
NM_001164508.2(NEB):c.4473G>A (p.Val1491=)
|
rs2154190350
|
|
NM_001164508.2(NEB):c.4476G>A (p.Leu1492=)
|
rs2154190347
|
|
NM_001164508.2(NEB):c.4477G>C (p.Ala1493Pro)
|
|
|
NM_001164508.2(NEB):c.4485dup (p.Asn1496Ter)
|
rs2154190331
|
|
NM_001164508.2(NEB):c.4488C>T (p.Asn1496=)
|
rs925626079
|
|
NM_001164508.2(NEB):c.4498C>T (p.Leu1500=)
|
|
|
NM_001164508.2(NEB):c.4500A>G (p.Leu1500=)
|
|
|
NM_001164508.2(NEB):c.4506+17C>A
|
|
|
NM_001164508.2(NEB):c.4506+17C>G
|
|
|
NM_001164508.2(NEB):c.4506+18A>G
|
|
|
NM_001164508.2(NEB):c.4506+1G>A
|
rs112517981
|
|
NM_001164508.2(NEB):c.4506+2T>C
|
|
|
NM_001164508.2(NEB):c.4506+4A>G
|
|
|
NM_001164508.2(NEB):c.4506+8C>A
|
|
|
NM_001164508.2(NEB):c.4507-17G>A
|
|
|
NM_001164508.2(NEB):c.4507-18T>C
|
|
|
NM_001164508.2(NEB):c.4507-1G>A
|
rs2154185810
|
|
NM_001164508.2(NEB):c.4507-2A>C
|
rs1575668113
|
|
NM_001164508.2(NEB):c.4507-2A>G
|
rs1575668113
|
|
NM_001164508.2(NEB):c.4507-3del
|
rs767772701
|
|
NM_001164508.2(NEB):c.4507-5T>A
|
|
|
NM_001164508.2(NEB):c.450A>G (p.Val150=)
|
rs2150761812
|
|
NM_001164508.2(NEB):c.4515C>A (p.Tyr1505Ter)
|
|
|
NM_001164508.2(NEB):c.4520T>G (p.Val1507Gly)
|
|
|
NM_001164508.2(NEB):c.4523A>G (p.Glu1508Gly)
|
|
|
NM_001164508.2(NEB):c.4526G>A (p.Gly1509Glu)
|
rs2154185771
|
|
NM_001164508.2(NEB):c.452A>G (p.Asp151Gly)
|
|
|
NM_001164508.2(NEB):c.4530G>A (p.Glu1510=)
|
|
|
NM_001164508.2(NEB):c.4534C>T (p.Leu1512=)
|
|
|
NM_001164508.2(NEB):c.4535_4536del (p.Leu1512fs)
|
rs2099254893
|
|
NM_001164508.2(NEB):c.4538_4539delinsGGGT (p.Lys1513fs)
|
|
|
NM_001164508.2(NEB):c.4539G>A (p.Lys1513=)
|
|
|
NM_001164508.2(NEB):c.4543A>T (p.Lys1515Ter)
|
|
|
NM_001164508.2(NEB):c.4545_4546insGTTATTT (p.Tyr1516fs)
|
|
|
NM_001164508.2(NEB):c.4550del (p.Thr1517fs)
|
rs2154185730
|
|
NM_001164508.2(NEB):c.4550dup (p.Ile1518fs)
|
|
|
NM_001164508.2(NEB):c.4552A>G (p.Ile1518Val)
|
|
|
NM_001164508.2(NEB):c.4555_4556del (p.Asp1519fs)
|
|
|
NM_001164508.2(NEB):c.4566G>A (p.Leu1522=)
|
rs752174970
|
|
NM_001164508.2(NEB):c.4566G>T (p.Leu1522Phe)
|
|
|
NM_001164508.2(NEB):c.4568C>T (p.Pro1523Leu)
|
|
|
NM_001164508.2(NEB):c.4572G>A (p.Gln1524=)
|
rs766856587
|
|
NM_001164508.2(NEB):c.4573T>C (p.Phe1525Leu)
|
|
|
NM_001164508.2(NEB):c.4575T>C (p.Phe1525=)
|
rs2154185657
|
|
NM_001164508.2(NEB):c.4576_4580delinsTTT (p.Ile1526fs)
|
|
|
NM_001164508.2(NEB):c.4583C>T (p.Ala1528Val)
|
rs1023227996
|
|
NM_001164508.2(NEB):c.4585A>T (p.Lys1529Ter)
|
|
|
NM_001164508.2(NEB):c.4587A>G (p.Lys1529=)
|
|
|
NM_001164508.2(NEB):c.4590C>T (p.Val1530=)
|
rs1249115083
|
|
NM_001164508.2(NEB):c.4594G>A (p.Ala1532Thr)
|
|
|
NM_001164508.2(NEB):c.4595C>A (p.Ala1532Asp)
|
rs1456966310
|
|
NM_001164508.2(NEB):c.459A>G (p.Lys153=)
|
rs2150761198
|
|
NM_001164508.2(NEB):c.4602C>T (p.Asn1534=)
|
|
|
NM_001164508.2(NEB):c.4603A>G (p.Met1535Val)
|
|
|
NM_001164508.2(NEB):c.4611+11G>T
|
|
|
NM_001164508.2(NEB):c.4611+19G>A
|
|
|
NM_001164508.2(NEB):c.4611+1G>A
|
rs1233792020
|
|
NM_001164508.2(NEB):c.4611+20C>T
|
|
|
NM_001164508.2(NEB):c.4611T>C (p.Asp1537=)
|
rs2099254265
|
|
NM_001164508.2(NEB):c.4612-17C>G
|
|
|
NM_001164508.2(NEB):c.4612-4G>C
|
rs2154183010
|
|
NM_001164508.2(NEB):c.4612-5dup
|
|
|
NM_001164508.2(NEB):c.4612-7T>C
|
rs2154183040
|
|
NM_001164508.2(NEB):c.4623del (p.Ala1542fs)
|
rs1559039815
|
|
NM_001164508.2(NEB):c.4629T>C (p.Asp1543=)
|
rs747277690
|
|
NM_001164508.2(NEB):c.4631G>A (p.Trp1544Ter)
|
|
|
NM_001164508.2(NEB):c.4641C>T (p.Thr1547=)
|
|
|
NM_001164508.2(NEB):c.4646_4647del (p.Ala1549fs)
|
|
|
NM_001164508.2(NEB):c.4650G>A (p.Lys1550=)
|
rs1180613075
|
|
NM_001164508.2(NEB):c.4652G>A (p.Gly1551Asp)
|
rs2099240158
|
|
NM_001164508.2(NEB):c.4652del (p.Gly1551fs)
|
rs1553502168
|
|
NM_001164508.2(NEB):c.4653C>T (p.Gly1551=)
|
|
|
NM_001164508.2(NEB):c.4656T>A (p.Tyr1552Ter)
|
|
|
NM_001164508.2(NEB):c.4661T>A (p.Leu1554Ter)
|
|
|
NM_001164508.2(NEB):c.4662G>C (p.Leu1554Phe)
|
|
|
NM_001164508.2(NEB):c.4671T>C (p.Asp1557=)
|
|
|
NM_001164508.2(NEB):c.4677C>T (p.Ile1559=)
|
|
|
NM_001164508.2(NEB):c.4680A>G (p.Pro1560=)
|
|
|
NM_001164508.2(NEB):c.4684G>T (p.Val1562Phe)
|
|
|
NM_001164508.2(NEB):c.4685T>C (p.Val1562Ala)
|
|
|
NM_001164508.2(NEB):c.4686T>C (p.Val1562=)
|
rs2154182813
|
|
NM_001164508.2(NEB):c.4694A>C (p.Lys1565Thr)
|
|
|
NM_001164508.2(NEB):c.4703G>A (p.Arg1568Lys)
|
|
|
NM_001164508.2(NEB):c.4707T>C (p.Asn1569=)
|
rs2154182790
|
|
NM_001164508.2(NEB):c.4719+18G>A
|
|
|
NM_001164508.2(NEB):c.4719+19T>C
|
|
|
NM_001164508.2(NEB):c.4719+1G>A
|
|
|
NM_001164508.2(NEB):c.4719+2T>A
|
|
|
NM_001164508.2(NEB):c.4719+2T>C
|
rs1553501889
|
|
NM_001164508.2(NEB):c.4719+8T>C
|
|
|
NM_001164508.2(NEB):c.471T>C (p.Ile157=)
|
rs1269882058
|
|
NM_001164508.2(NEB):c.4720-12G>C
|
|
|
NM_001164508.2(NEB):c.4720-17C>T
|
rs2154179318
|
|
NM_001164508.2(NEB):c.4720-4A>T
|
rs753231552
|
|
NM_001164508.2(NEB):c.4720-6A>T
|
rs756852826
|
|
NM_001164508.2(NEB):c.4722C>T (p.Cys1574=)
|
|
|
NM_001164508.2(NEB):c.4725A>C (p.Lys1575Asn)
|
|
|
NM_001164508.2(NEB):c.4725dup (p.Tyr1576fs)
|
|
|
NM_001164508.2(NEB):c.4729_4730insT (p.Lys1577fs)
|
|
|
NM_001164508.2(NEB):c.4734G>A (p.Glu1578=)
|
rs2154179248
|
|
NM_001164508.2(NEB):c.4735G>A (p.Ala1579Thr)
|
|
|
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val)
|
rs751602407
|
|
NM_001164508.2(NEB):c.4738T>C (p.Tyr1580His)
|
rs2154179233
|
|
NM_001164508.2(NEB):c.4740C>A (p.Tyr1580Ter)
|
rs766168868
|
|
NM_001164508.2(NEB):c.4751_4752del (p.Lys1584fs)
|
|
|
NM_001164508.2(NEB):c.4761A>G (p.Gln1587=)
|
|
|
NM_001164508.2(NEB):c.4764T>C (p.Val1588=)
|
rs2154179192
|
|
NM_001164508.2(NEB):c.4765G>T (p.Gly1589Ter)
|
|
|
NM_001164508.2(NEB):c.476A>G (p.His159Arg)
|
|
|
NM_001164508.2(NEB):c.4773C>G (p.Leu1591=)
|
rs768945047
|
|
NM_001164508.2(NEB):c.4773C>T (p.Leu1591=)
|
rs768945047
|
|
NM_001164508.2(NEB):c.4775G>C (p.Ser1592Thr)
|
|
|
NM_001164508.2(NEB):c.4776T>C (p.Ser1592=)
|
|
|
NM_001164508.2(NEB):c.477T>C (p.His159=)
|
rs2099785711
|
|
NM_001164508.2(NEB):c.47A>G (p.Glu16Gly)
|
|
|
NM_001164508.2(NEB):c.47AAG[1] (p.Glu17del)
|
rs760256873
|
|
NM_001164508.2(NEB):c.4802A>G (p.His1601Arg)
|
|
|
NM_001164508.2(NEB):c.4806C>T (p.Tyr1602=)
|
rs2154179146
|
|
NM_001164508.2(NEB):c.4807A>G (p.Met1603Val)
|
|
|
NM_001164508.2(NEB):c.480A>G (p.Ala160=)
|
|
|
NM_001164508.2(NEB):c.4812T>C (p.Asn1604=)
|
|
|
NM_001164508.2(NEB):c.4819A>G (p.Lys1607Glu)
|
|
|
NM_001164508.2(NEB):c.481A>G (p.Lys161Glu)
|
rs1440684786
|
|
NM_001164508.2(NEB):c.4828T>C (p.Ser1610Pro)
|
|
|
NM_001164508.2(NEB):c.4833T>C (p.Asp1611=)
|
rs1413754733
|
|
NM_001164508.2(NEB):c.4834C>A (p.Arg1612Ser)
|
rs200545007
|
|
NM_001164508.2(NEB):c.4835G>C (p.Arg1612Pro)
|
|
|
NM_001164508.2(NEB):c.4835G>T (p.Arg1612Leu)
|
rs534531948
|
|
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter)
|
rs2154179061
|
|
NM_001164508.2(NEB):c.4843A>G (p.Lys1615Glu)
|
rs1237432906
|
|
NM_001164508.2(NEB):c.4843A>T (p.Lys1615Ter)
|
rs1237432906
|
|
NM_001164508.2(NEB):c.4847A>G (p.Lys1616Arg)
|
|
|
NM_001164508.2(NEB):c.4848G>A (p.Lys1616=)
|
rs958645221
|
|
NM_001164508.2(NEB):c.4850G>A (p.Gly1617Asp)
|
|
|
NM_001164508.2(NEB):c.4851C>T (p.Gly1617=)
|
|
|
NM_001164508.2(NEB):c.4853A>G (p.Tyr1618Cys)
|
rs759773612
|
|
NM_001164508.2(NEB):c.4854T>C (p.Tyr1618=)
|
rs2154179019
|
|
NM_001164508.2(NEB):c.4857A>G (p.Glu1619=)
|
rs1313191028
|
|
NM_001164508.2(NEB):c.4868C>G (p.Thr1623Ser)
|
|
|
NM_001164508.2(NEB):c.4878C>T (p.His1626=)
|
rs774544008
|
|
NM_001164508.2(NEB):c.4880C>T (p.Thr1627Ile)
|
rs1651215974
|
|
NM_001164508.2(NEB):c.4884T>A (p.Pro1628=)
|
|
|
NM_001164508.2(NEB):c.4884T>G (p.Pro1628=)
|
rs1041760075
|
|
NM_001164508.2(NEB):c.4899_4903del (p.Val1634fs)
|
|
|
NM_001164508.2(NEB):c.489G>A (p.Val163=)
|
rs2150759969
|
|
NM_001164508.2(NEB):c.4908T>C (p.Ala1636=)
|
rs747601206
|
|
NM_001164508.2(NEB):c.4908_4912del (p.Ala1637fs)
|
|
|
NM_001164508.2(NEB):c.4916_4917insG (p.Ser1640fs)
|
|
|
NM_001164508.2(NEB):c.4922_4928del (p.Gln1641fs)
|
|
|
NM_001164508.2(NEB):c.4924del (p.Glu1642fs)
|
|
|
NM_001164508.2(NEB):c.4926G>A (p.Glu1642=)
|
rs2154178922
|
|
NM_001164508.2(NEB):c.4929T>A (p.Val1643=)
|
rs2154178905
|
|
NM_001164508.2(NEB):c.492G>T (p.Ser164=)
|
rs371015050
|
|
NM_001164508.2(NEB):c.4932C>A (p.Ala1644=)
|
rs2154178892
|
|
NM_001164508.2(NEB):c.4932C>T (p.Ala1644=)
|
|
|
NM_001164508.2(NEB):c.4933A>G (p.Thr1645Ala)
|
|
|
NM_001164508.2(NEB):c.4934C>A (p.Thr1645Asn)
|
|
|
NM_001164508.2(NEB):c.4935C>T (p.Thr1645=)
|
rs2154178884
|
|
NM_001164508.2(NEB):c.4937A>G (p.Asn1646Ser)
|
|
|
NM_001164508.2(NEB):c.4938C>A (p.Asn1646Lys)
|
|
|
NM_001164508.2(NEB):c.493C>T (p.Gln165Ter)
|
rs2099785680
|
|
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del)
|
rs770192528
|
|
NM_001164508.2(NEB):c.4956A>C (p.Ser1652=)
|
|
|
NM_001164508.2(NEB):c.4960C>A (p.His1654Asn)
|
rs2154178833
|
|
NM_001164508.2(NEB):c.4962C>T (p.His1654=)
|
rs759709375
|
|
NM_001164508.2(NEB):c.4964A>G (p.His1655Arg)
|
rs2099214775
|
|
NM_001164508.2(NEB):c.4965C>T (p.His1655=)
|
rs1575591786
|
|
NM_001164508.2(NEB):c.496_499del (p.Gln166fs)
|
rs1340063197
|
|
NM_001164508.2(NEB):c.4970C>G (p.Thr1657Ser)
|
|
|
NM_001164508.2(NEB):c.4972C>T (p.Leu1658Phe)
|
|
|
NM_001164508.2(NEB):c.4973T>A (p.Leu1658His)
|
|
|
NM_001164508.2(NEB):c.4975C>T (p.Leu1659=)
|
|
|
NM_001164508.2(NEB):c.4977G>A (p.Leu1659=)
|
|
|
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser)
|
rs776231831
|
|
NM_001164508.2(NEB):c.4980C>G (p.Pro1660=)
|
rs142074817
|
|
NM_001164508.2(NEB):c.4981G>A (p.Asp1661Asn)
|
|
|
NM_001164508.2(NEB):c.4982A>C (p.Asp1661Ala)
|
|
|
NM_001164508.2(NEB):c.4985C>A (p.Ala1662Asp)
|
rs2154178777
|
|
NM_001164508.2(NEB):c.4987T>A (p.Leu1663Met)
|
rs2154178771
|
|
NM_001164508.2(NEB):c.498A>G (p.Gln166=)
|
|
|
NM_001164508.2(NEB):c.498_507+18del
|
|
|
NM_001164508.2(NEB):c.4998G>A (p.Glu1666=)
|
|
|
NM_001164508.2(NEB):c.4999del (p.His1667fs)
|
|
|
NM_001164508.2(NEB):c.499G>C (p.Val167Leu)
|
|
|
NM_001164508.2(NEB):c.5004C>T (p.Ser1668=)
|
|
|
NM_001164508.2(NEB):c.5013C>A (p.Ala1671=)
|
rs745620924
|
|
NM_001164508.2(NEB):c.5013C>G (p.Ala1671=)
|
|
|
NM_001164508.2(NEB):c.5013C>T (p.Ala1671=)
|
rs745620924
|
|
NM_001164508.2(NEB):c.501C>T (p.Val167=)
|
|
|
NM_001164508.2(NEB):c.5023C>T (p.Gln1675Ter)
|
|
|
NM_001164508.2(NEB):c.5024A>G (p.Gln1675Arg)
|
rs2099214265
|
|
NM_001164508.2(NEB):c.5029G>A (p.Asp1677Asn)
|
rs778722719
|
|
NM_001164508.2(NEB):c.502A>G (p.Ser168Gly)
|
|
|
NM_001164508.2(NEB):c.5030A>G (p.Asp1677Gly)
|
|
|
NM_001164508.2(NEB):c.5031+11G>C
|
|
|
NM_001164508.2(NEB):c.5031+11G>T
|
|
|
NM_001164508.2(NEB):c.5031+15C>T
|
|
|
NM_001164508.2(NEB):c.5031+1G>A
|
rs1553495140
|
|
NM_001164508.2(NEB):c.5031+20T>C
|
|
|
NM_001164508.2(NEB):c.5031+2T>C
|
rs2154178700
|
|
NM_001164508.2(NEB):c.5031+8C>G
|
rs2154178671
|
|
NM_001164508.2(NEB):c.5031+8C>T
|
rs2154178671
|
|
NM_001164508.2(NEB):c.5032-13del
|
rs148862132
|
|
NM_001164508.2(NEB):c.5032-13dup
|
rs148862132
|
|
NM_001164508.2(NEB):c.5032-16T>C
|
|
|
NM_001164508.2(NEB):c.5032-19T>A
|
rs2154177473
|
|
NM_001164508.2(NEB):c.5032-9A>T
|
|
|
NM_001164508.2(NEB):c.5034T>C (p.Asn1678=)
|
rs2099204137
|
|
NM_001164508.2(NEB):c.5037G>A (p.Leu1679=)
|
rs778634159
|
|
NM_001164508.2(NEB):c.5037G>C (p.Leu1679=)
|
rs778634159
|
|
NM_001164508.2(NEB):c.5039_5044del (p.Tyr1680_Lys1681del)
|
rs1300563797
|
|
NM_001164508.2(NEB):c.5049C>T (p.Asp1683=)
|
rs777670525
|
|
NM_001164508.2(NEB):c.504T>C (p.Ser168=)
|
|
|
NM_001164508.2(NEB):c.5055C>A (p.Thr1685=)
|
rs1575578013
|
|
NM_001164508.2(NEB):c.5058T>C (p.Asn1686=)
|
rs374877131
|
|
NM_001164508.2(NEB):c.507+11G>T
|
|
|
NM_001164508.2(NEB):c.507+15T>C
|
|
|
NM_001164508.2(NEB):c.507+18A>T
|
|
|
NM_001164508.2(NEB):c.507+1G>A
|
rs1553689057
|
|
NM_001164508.2(NEB):c.507+2T>C
|
|
|
NM_001164508.2(NEB):c.507+8A>G
|
rs2150758525
|
|
NM_001164508.2(NEB):c.5070G>T (p.Gly1690=)
|
|
|
NM_001164508.2(NEB):c.5074G>A (p.Gly1692Ser)
|
rs764638678
|
|
NM_001164508.2(NEB):c.508-10T>C
|
rs1577888620
|
|
NM_001164508.2(NEB):c.508-10T>G
|
rs1577888620
|
|
NM_001164508.2(NEB):c.508-19C>T
|
|
|
NM_001164508.2(NEB):c.508-1G>A
|
|
|
NM_001164508.2(NEB):c.508-4C>T
|
rs2099784169
|
|
NM_001164508.2(NEB):c.508-5T>C
|
rs760986524
|
|
NM_001164508.2(NEB):c.508-6G>A
|
rs374227241
|
|
NM_001164508.2(NEB):c.508-6G>T
|
rs374227241
|
|
NM_001164508.2(NEB):c.5085C>T (p.Pro1695=)
|
rs2154177282
|
|
NM_001164508.2(NEB):c.5086A>G (p.Ile1696Val)
|
|
|
NM_001164508.2(NEB):c.5088A>C (p.Ile1696=)
|
rs2154177269
|
|
NM_001164508.2(NEB):c.5091G>A (p.Glu1697=)
|
rs1349969572
|
|
NM_001164508.2(NEB):c.5094C>G (p.Ser1698=)
|
|
|
NM_001164508.2(NEB):c.5094C>T (p.Ser1698=)
|
rs2154177256
|
|
NM_001164508.2(NEB):c.5100G>A (p.Glu1700=)
|
rs2099203382
|
|
NM_001164508.2(NEB):c.5104G>A (p.Glu1702Lys)
|
|
|
NM_001164508.2(NEB):c.5109G>A (p.Lys1703=)
|
|
|
NM_001164508.2(NEB):c.5115G>A (p.Lys1705=)
|
rs2154177219
|
|
NM_001164508.2(NEB):c.5118A>G (p.Lys1706=)
|
rs2154177215
|
|
NM_001164508.2(NEB):c.5120C>A (p.Ala1707Glu)
|
rs1575576650
|
|
NM_001164508.2(NEB):c.5132T>C (p.Leu1711Pro)
|
rs2099203051
|
|
NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)
|
|
|
NM_001164508.2(NEB):c.513A>G (p.Leu171=)
|
rs2150733016
|
|
NM_001164508.2(NEB):c.5140AAG[1] (p.Lys1715del)
|
rs1553492424
|
|
NM_001164508.2(NEB):c.5150G>A (p.Arg1717His)
|
|
|
NM_001164508.2(NEB):c.5150G>T (p.Arg1717Leu)
|
rs747091795
|
|
NM_001164508.2(NEB):c.5151C>A (p.Arg1717=)
|
|
|
NM_001164508.2(NEB):c.5153A>T (p.Gln1718Leu)
|
rs1064796520
|
|
NM_001164508.2(NEB):c.5160C>A (p.Pro1720=)
|
rs377168964
|
|
NM_001164508.2(NEB):c.5160C>G (p.Pro1720=)
|
rs377168964
|
|
NM_001164508.2(NEB):c.5164A>T (p.Lys1722Ter)
|
|
|
NM_001164508.2(NEB):c.5170A>T (p.Lys1724Ter)
|
|
|
NM_001164508.2(NEB):c.5170_5172del (p.Lys1724del)
|
rs1553492107
|
|
NM_001164508.2(NEB):c.5185A>G (p.Met1729Val)
|
|
|
NM_001164508.2(NEB):c.5186T>C (p.Met1729Thr)
|
|
|
NM_001164508.2(NEB):c.5191dup (p.Thr1731fs)
|
|
|
NM_001164508.2(NEB):c.519G>A (p.Lys173=)
|
rs2150732937
|
|
NM_001164508.2(NEB):c.5202G>A (p.Gln1734=)
|
rs2099202370
|
|
NM_001164508.2(NEB):c.5211C>T (p.Asn1737=)
|
|
|
NM_001164508.2(NEB):c.5211_5213del (p.Asn1737del)
|
rs1553491789
|
|
NM_001164508.2(NEB):c.5214G>A (p.Lys1738=)
|
|
|
NM_001164508.2(NEB):c.5217T>C (p.Ser1739=)
|
rs1159799605
|
|
NM_001164508.2(NEB):c.5224C>T (p.Leu1742=)
|
rs886054947
|
|
NM_001164508.2(NEB):c.5225_5226del (p.Leu1742fs)
|
rs2154176983
|
|
NM_001164508.2(NEB):c.5229dup (p.Met1744fs)
|
rs2154176971
|
|
NM_001164508.2(NEB):c.5236A>T (p.Lys1746Ter)
|
|
|
NM_001164508.2(NEB):c.5238+11A>T
|
|
|
NM_001164508.2(NEB):c.5238+15G>A
|
|
|
NM_001164508.2(NEB):c.5238+19G>A
|
|
|
NM_001164508.2(NEB):c.5239-15A>C
|
|
|
NM_001164508.2(NEB):c.5239-18del
|
|
|
NM_001164508.2(NEB):c.5239-1G>A
|
|
|
NM_001164508.2(NEB):c.5239-20A>C
|
|
|
NM_001164508.2(NEB):c.5239-20A>G
|
|
|
NM_001164508.2(NEB):c.5239-4G>T
|
|
|
NM_001164508.2(NEB):c.5239-8C>T
|
rs762635901
|
|
NM_001164508.2(NEB):c.5239A>G (p.Arg1747Gly)
|
rs1272476034
|
|
NM_001164508.2(NEB):c.5244C>G (p.Leu1748=)
|
rs2099191461
|
|
NM_001164508.2(NEB):c.5245_5254del (p.Tyr1749fs)
|
rs2099191297
|
|
NM_001164508.2(NEB):c.5250T>A (p.Thr1750=)
|
rs551804427
|
|
NM_001164508.2(NEB):c.5256A>G (p.Lys1752=)
|
|
|
NM_001164508.2(NEB):c.5257T>C (p.Trp1753Arg)
|
|
|
NM_001164508.2(NEB):c.5258G>A (p.Trp1753Ter)
|
rs776635100
|
|
NM_001164508.2(NEB):c.5261A>G (p.Asn1754Ser)
|
|
|
NM_001164508.2(NEB):c.5262C>A (p.Asn1754Lys)
|
|
|
NM_001164508.2(NEB):c.5264A>T (p.Lys1755Met)
|
|
|
NM_001164508.2(NEB):c.5269A>T (p.Lys1757Ter)
|
|
|
NM_001164508.2(NEB):c.5274C>T (p.Thr1758=)
|
|
|
NM_001164508.2(NEB):c.5276C>T (p.Thr1759Ile)
|
|
|
NM_001164508.2(NEB):c.5279T>G (p.Ile1760Ser)
|
|
|
NM_001164508.2(NEB):c.527G>A (p.Trp176Ter)
|
|
|
NM_001164508.2(NEB):c.5286C>T (p.Val1762=)
|
|
|
NM_001164508.2(NEB):c.5291C>T (p.Pro1764Leu)
|
|
|
NM_001164508.2(NEB):c.5298A>G (p.Thr1766=)
|
|
|
NM_001164508.2(NEB):c.529G>A (p.Glu177Lys)
|
rs1403433350
|
|
NM_001164508.2(NEB):c.52G>C (p.Val18Leu)
|
rs2150994592
|
|
NM_001164508.2(NEB):c.5303A>C (p.Asp1768Ala)
|
|
|
NM_001164508.2(NEB):c.5304T>A (p.Asp1768Glu)
|
|
|
NM_001164508.2(NEB):c.5304T>C (p.Asp1768=)
|
rs1417460673
|
|
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter)
|
rs2154175437
|
|
NM_001164508.2(NEB):c.5311C>T (p.Leu1771Phe)
|
|
|
NM_001164508.2(NEB):c.5313C>T (p.Leu1771=)
|
rs2154175432
|
|
NM_001164508.2(NEB):c.531A>G (p.Glu177=)
|
rs2099784144
|
|
NM_001164508.2(NEB):c.5322A>G (p.Val1774=)
|
|
|
NM_001164508.2(NEB):c.5328A>G (p.Gln1776=)
|
|
|
NM_001164508.2(NEB):c.5329A>G (p.Ile1777Val)
|
|
|
NM_001164508.2(NEB):c.5332A>T (p.Thr1778Ser)
|
rs2099190635
|
|
NM_001164508.2(NEB):c.5335A>T (p.Met1779Leu)
|
rs962698882
|
|
NM_001164508.2(NEB):c.5337G>A (p.Met1779Ile)
|
|
|
NM_001164508.2(NEB):c.5343+14C>A
|
|
|
NM_001164508.2(NEB):c.5343+15A>G
|
|
|
NM_001164508.2(NEB):c.5343+17C>A
|
|
|
NM_001164508.2(NEB):c.5343+5G>A
|
rs2154175371
|
|
NM_001164508.2(NEB):c.5344-13T>C
|
|
|
NM_001164508.2(NEB):c.5344-15T>C
|
|
|
NM_001164508.2(NEB):c.5344-16C>T
|
|
|
NM_001164508.2(NEB):c.5344-1G>A
|
rs1197561990
|
|
NM_001164508.2(NEB):c.5344-22_5344-20del
|
|
|
NM_001164508.2(NEB):c.5344-4T>G
|
|
|
NM_001164508.2(NEB):c.5344-8T>C
|
rs763115844
|
|
NM_001164508.2(NEB):c.5345A>C (p.Lys1782Thr)
|
|
|
NM_001164508.2(NEB):c.5346del (p.Lys1782fs)
|
rs2154174916
|
|
NM_001164508.2(NEB):c.5348T>C (p.Leu1783Pro)
|
|
|
NM_001164508.2(NEB):c.5349G>A (p.Leu1783=)
|
|
|
NM_001164508.2(NEB):c.5349G>C (p.Leu1783=)
|
|
|
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter)
|
rs201636991
|
|
NM_001164508.2(NEB):c.5365G>A (p.Glu1789Lys)
|
rs774196513
|
|
NM_001164508.2(NEB):c.5376G>A (p.Lys1792=)
|
rs886038453
|
|
NM_001164508.2(NEB):c.5385A>T (p.Gly1795=)
|
|
|
NM_001164508.2(NEB):c.5388T>A (p.Tyr1796Ter)
|
rs2099187757
|
|
NM_001164508.2(NEB):c.5391C>T (p.Asp1797=)
|
rs757909014
|
|
NM_001164508.2(NEB):c.5392C>T (p.Leu1798=)
|
rs925615143
|
|
NM_001164508.2(NEB):c.5395A>C (p.Arg1799=)
|
rs2099187669
|
|
NM_001164508.2(NEB):c.5398C>T (p.Pro1800Ser)
|
|
|
NM_001164508.2(NEB):c.5403T>G (p.Asp1801Glu)
|
|
|
NM_001164508.2(NEB):c.5405C>A (p.Ala1802Asp)
|
|
|
NM_001164508.2(NEB):c.540G>A (p.Lys180=)
|
|
|
NM_001164508.2(NEB):c.5418G>A (p.Lys1806=)
|
rs2154174722
|
|
NM_001164508.2(NEB):c.5419G>C (p.Ala1807Pro)
|
|
|
NM_001164508.2(NEB):c.5419G>T (p.Ala1807Ser)
|
rs374677022
|
|
NM_001164508.2(NEB):c.5420C>G (p.Ala1807Gly)
|
rs373790988
|
|
NM_001164508.2(NEB):c.5424A>C (p.Ala1808=)
|
|
|
NM_001164508.2(NEB):c.5427A>G (p.Arg1809=)
|
rs2154174695
|
|
NM_001164508.2(NEB):c.5432C>G (p.Ser1811Cys)
|
|
|
NM_001164508.2(NEB):c.5434A>T (p.Arg1812Ter)
|
|
|
NM_001164508.2(NEB):c.5436A>C (p.Arg1812Ser)
|
|
|
NM_001164508.2(NEB):c.5437G>A (p.Asp1813Asn)
|
rs2099187269
|
|
NM_001164508.2(NEB):c.5439C>T (p.Asp1813=)
|
|
|
NM_001164508.2(NEB):c.5440_5441del (p.Ile1814fs)
|
|
|
NM_001164508.2(NEB):c.5440_5449dup (p.Tyr1818delinsCysGlnTer)
|
|
|
NM_001164508.2(NEB):c.5444C>G (p.Ala1815Gly)
|
rs767491081
|
|
NM_001164508.2(NEB):c.5451+11G>C
|
|
|
NM_001164508.2(NEB):c.5451+11G>T
|
|
|
NM_001164508.2(NEB):c.5451+13A>G
|
|
|
NM_001164508.2(NEB):c.5451+14C>T
|
|
|
NM_001164508.2(NEB):c.5451+15T>G
|
|
|
NM_001164508.2(NEB):c.5451+1G>T
|
|
|
NM_001164508.2(NEB):c.5451+2_5451+11del
|
rs1553487838
|
|
NM_001164508.2(NEB):c.5451T>C (p.Asp1817=)
|
|
|
NM_001164508.2(NEB):c.5452-10C>G
|
rs755973658
|
|
NM_001164508.2(NEB):c.5452-13T>A
|
|
|
NM_001164508.2(NEB):c.5452-14T>C
|
|
|
NM_001164508.2(NEB):c.5452-1G>A
|
rs2154172894
|
|
NM_001164508.2(NEB):c.5452-2A>G
|
rs1057517317
|
|
NM_001164508.2(NEB):c.5458_5459del (p.Tyr1820fs)
|
rs2154172885
|
|
NM_001164508.2(NEB):c.5462A>C (p.Lys1821Thr)
|
|
|
NM_001164508.2(NEB):c.5467G>T (p.Ala1823Ser)
|
rs2099173290
|
|
NM_001164508.2(NEB):c.546G>A (p.Lys182=)
|
rs2150731866
|
|
NM_001164508.2(NEB):c.5472T>C (p.Tyr1824=)
|
rs1558984290
|
|
NM_001164508.2(NEB):c.5475A>G (p.Glu1825=)
|
rs2154172851
|
|
NM_001164508.2(NEB):c.5478A>G (p.Gln1826=)
|
rs754914675
|
|
NM_001164508.2(NEB):c.5481C>T (p.Ala1827=)
|
|
|
NM_001164508.2(NEB):c.5493C>T (p.His1831=)
|
|
|
NM_001164508.2(NEB):c.5493_5494del (p.Ile1832fs)
|
rs2154172818
|
|
NM_001164508.2(NEB):c.5499C>T (p.Gly1833=)
|
rs2154172803
|
|
NM_001164508.2(NEB):c.54G>C (p.Val18=)
|
rs1008378873
|
|
NM_001164508.2(NEB):c.54G>T (p.Val18=)
|
|
|
NM_001164508.2(NEB):c.54_56dup (p.Val19dup)
|
rs1553702754
|
|
NM_001164508.2(NEB):c.5504G>A (p.Arg1835Gln)
|
|
|
NM_001164508.2(NEB):c.5506A>G (p.Ser1836Gly)
|
|
|
NM_001164508.2(NEB):c.5508C>G (p.Ser1836Arg)
|
|
|
NM_001164508.2(NEB):c.5511G>A (p.Leu1837=)
|
|
|
NM_001164508.2(NEB):c.5513A>C (p.Glu1838Ala)
|
|
|
NM_001164508.2(NEB):c.5515G>A (p.Asp1839Asn)
|
rs2099172820
|
|
NM_001164508.2(NEB):c.5523_5527del (p.Lys1842fs)
|
rs2154172729
|
|
NM_001164508.2(NEB):c.5525A>G (p.Lys1842Arg)
|
rs2099172694
|
|
NM_001164508.2(NEB):c.552G>A (p.Leu184=)
|
rs749789516
|
|
NM_001164508.2(NEB):c.5532G>A (p.Val1844=)
|
|
|
NM_001164508.2(NEB):c.5535C>G (p.His1845Gln)
|
|
|
NM_001164508.2(NEB):c.5538C>T (p.Phe1846=)
|
|
|
NM_001164508.2(NEB):c.5544A>G (p.Gln1848=)
|
|
|
NM_001164508.2(NEB):c.5547G>T (p.Val1849=)
|
|
|
NM_001164508.2(NEB):c.5555T>C (p.Met1852Thr)
|
rs144180493
|
|
NM_001164508.2(NEB):c.5557C>T (p.Gln1853Ter)
|
rs2154172676
|
|
NM_001164508.2(NEB):c.5558A>C (p.Gln1853Pro)
|
rs748760784
|
|
NM_001164508.2(NEB):c.555T>G (p.Leu185=)
|
|
|
NM_001164508.2(NEB):c.5561C>T (p.Ser1854Leu)
|
rs1553485582
|
|
NM_001164508.2(NEB):c.5565C>T (p.Asp1855=)
|
rs200468391
|
|
NM_001164508.2(NEB):c.5574C>T (p.Tyr1858=)
|
rs781185019
|
|
NM_001164508.2(NEB):c.5587G>A (p.Glu1863Lys)
|
|
|
NM_001164508.2(NEB):c.5587G>T (p.Glu1863Ter)
|
rs1375183081
|
|
NM_001164508.2(NEB):c.558T>C (p.Pro186=)
|
rs2150731543
|
|
NM_001164508.2(NEB):c.5595C>T (p.Ser1865=)
|
rs1553485337
|
|
NM_001164508.2(NEB):c.5595dup (p.Lys1866fs)
|
rs2154172582
|
|
NM_001164508.2(NEB):c.5596A>G (p.Lys1866Glu)
|
|
|
NM_001164508.2(NEB):c.5600C>T (p.Thr1867Ile)
|
|
|
NM_001164508.2(NEB):c.5601C>G (p.Thr1867=)
|
rs2154172565
|
|
NM_001164508.2(NEB):c.5601C>T (p.Thr1867=)
|
rs2154172565
|
|
NM_001164508.2(NEB):c.5604C>T (p.Ser1868=)
|
rs1383368666
|
|
NM_001164508.2(NEB):c.5610C>T (p.His1870=)
|
rs2154172552
|
|
NM_001164508.2(NEB):c.5612C>A (p.Thr1871Asn)
|
rs753865894
|
|
NM_001164508.2(NEB):c.5613C>G (p.Thr1871=)
|
|
|
NM_001164508.2(NEB):c.5613C>T (p.Thr1871=)
|
rs1363506031
|
|
NM_001164508.2(NEB):c.5614C>G (p.Pro1872Ala)
|
|
|
NM_001164508.2(NEB):c.5615C>T (p.Pro1872Leu)
|
|
|
NM_001164508.2(NEB):c.5619G>A (p.Val1873=)
|
|
|
NM_001164508.2(NEB):c.561T>C (p.Pro187=)
|
|
|
NM_001164508.2(NEB):c.5622C>T (p.Asp1874=)
|
|
|
NM_001164508.2(NEB):c.5626C>T (p.Leu1876Phe)
|
|
|
NM_001164508.2(NEB):c.5628C>G (p.Leu1876=)
|
rs771407375
|
|
NM_001164508.2(NEB):c.5628C>T (p.Leu1876=)
|
rs771407375
|
|
NM_001164508.2(NEB):c.5630G>T (p.Ser1877Ile)
|
|
|
NM_001164508.2(NEB):c.5631T>C (p.Ser1877=)
|
|
|
NM_001164508.2(NEB):c.5634G>A (p.Val1878=)
|
rs2154172468
|
|
NM_001164508.2(NEB):c.5637G>A (p.Val1879=)
|
rs1558980163
|
|
NM_001164508.2(NEB):c.5641_5642delinsAG (p.Ala1881Ser)
|
rs2154172447
|
|
NM_001164508.2(NEB):c.5655G>A (p.Gln1885=)
|
|
|
NM_001164508.2(NEB):c.5658A>G (p.Glu1886=)
|
|
|
NM_001164508.2(NEB):c.5664C>A (p.Ala1888=)
|
rs367607601
|
|
NM_001164508.2(NEB):c.5664C>T (p.Ala1888=)
|
|
|
NM_001164508.2(NEB):c.5664del (p.Thr1889fs)
|
|
|
NM_001164508.2(NEB):c.5667C>T (p.Thr1889=)
|
rs1005978671
|
|
NM_001164508.2(NEB):c.5669A>T (p.Asn1890Ile)
|
|
|
NM_001164508.2(NEB):c.5670T>C (p.Asn1890=)
|
|
|
NM_001164508.2(NEB):c.5678A>G (p.Tyr1893Cys)
|
|
|
NM_001164508.2(NEB):c.5679C>T (p.Tyr1893=)
|
|
|
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly)
|
rs150961139
|
|
NM_001164508.2(NEB):c.5680A>T (p.Arg1894Trp)
|
|
|
NM_001164508.2(NEB):c.5683A>C (p.Asn1895His)
|
|
|
NM_001164508.2(NEB):c.5696C>A (p.Thr1899Asn)
|
rs202234374
|
|
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del)
|
rs775531807
|
|
NM_001164508.2(NEB):c.5699A>T (p.Tyr1900Phe)
|
|
|
NM_001164508.2(NEB):c.5700C>T (p.Tyr1900=)
|
|
|
NM_001164508.2(NEB):c.5717C>T (p.Ala1906Val)
|
rs2099170735
|
|
NM_001164508.2(NEB):c.5718C>G (p.Ala1906=)
|
|
|
NM_001164508.2(NEB):c.5719A>G (p.Met1907Val)
|
|
|
NM_001164508.2(NEB):c.5720T>G (p.Met1907Arg)
|
|
|
NM_001164508.2(NEB):c.5721G>A (p.Met1907Ile)
|
|
|
NM_001164508.2(NEB):c.5722del (p.Ser1908fs)
|
rs1553484601
|
|
NM_001164508.2(NEB):c.5731T>C (p.Leu1911=)
|
rs1575521586
|
|
NM_001164508.2(NEB):c.5742T>C (p.Asn1914=)
|
|
|
NM_001164508.2(NEB):c.5743A>G (p.Met1915Val)
|
|
|
NM_001164508.2(NEB):c.5751G>C (p.Gln1917His)
|
|
|
NM_001164508.2(NEB):c.5754T>G (p.Ile1918Met)
|
|
|
NM_001164508.2(NEB):c.5763+12C>T
|
|
|
NM_001164508.2(NEB):c.5763+14A>G
|
|
|
NM_001164508.2(NEB):c.5763+19T>C
|
|
|
NM_001164508.2(NEB):c.5763+1G>A
|
rs2154172204
|
|
NM_001164508.2(NEB):c.5763+7G>A
|
|
|
NM_001164508.2(NEB):c.5764-11C>T
|
|
|
NM_001164508.2(NEB):c.5764-12C>T
|
|
|
NM_001164508.2(NEB):c.5764-19A>G
|
|
|
NM_001164508.2(NEB):c.5764-2A>G
|
|
|
NM_001164508.2(NEB):c.5764-6T>C
|
|
|
NM_001164508.2(NEB):c.5764-9C>T
|
rs1210833671
|
|
NM_001164508.2(NEB):c.5767C>G (p.Gln1923Glu)
|
rs2154169026
|
|
NM_001164508.2(NEB):c.5771A>C (p.Tyr1924Ser)
|
|
|
NM_001164508.2(NEB):c.5771A>G (p.Tyr1924Cys)
|
rs747326135
|
|
NM_001164508.2(NEB):c.5783A>C (p.Tyr1928Ser)
|
|
|
NM_001164508.2(NEB):c.5784T>C (p.Tyr1928=)
|
rs1575485832
|
|
NM_001164508.2(NEB):c.5787T>C (p.Ala1929=)
|
rs2154168960
|
|
NM_001164508.2(NEB):c.57T>A (p.Val19=)
|
|
|
NM_001164508.2(NEB):c.5805T>C (p.Ile1935=)
|
|
|
NM_001164508.2(NEB):c.5806G>A (p.Gly1936Arg)
|
rs997951612
|
|
NM_001164508.2(NEB):c.5807G>A (p.Gly1936Glu)
|
|
|
NM_001164508.2(NEB):c.5808A>G (p.Gly1936=)
|
|
|
NM_001164508.2(NEB):c.5808A>T (p.Gly1936=)
|
rs759345767
|
|
NM_001164508.2(NEB):c.5816C>T (p.Pro1939Leu)
|
rs1486289467
|
|
NM_001164508.2(NEB):c.5818C>A (p.Leu1940Met)
|
|
|
NM_001164508.2(NEB):c.5819T>C (p.Leu1940Pro)
|
|
|
NM_001164508.2(NEB):c.5824T>A (p.Ser1942Thr)
|
rs2154168846
|
|
NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln)
|
rs531692437
|
|
NM_001164508.2(NEB):c.5836G>A (p.Glu1946Lys)
|
|
|
NM_001164508.2(NEB):c.5839A>T (p.Lys1947Ter)
|
|
|
NM_001164508.2(NEB):c.5841A>G (p.Lys1947=)
|
rs1304489001
|
|
NM_001164508.2(NEB):c.5843A>T (p.Asn1948Ile)
|
rs2154168814
|
|
NM_001164508.2(NEB):c.5844C>T (p.Asn1948=)
|
|
|
NM_001164508.2(NEB):c.5850A>C (p.Lys1950Asn)
|
|
|
NM_001164508.2(NEB):c.5853C>G (p.Ala1951=)
|
rs757546480
|
|
NM_001164508.2(NEB):c.585C>G (p.Ala195=)
|
rs374538366
|
|
NM_001164508.2(NEB):c.585C>T (p.Ala195=)
|
rs374538366
|
|
NM_001164508.2(NEB):c.5864T>C (p.Ile1955Thr)
|
|
|
NM_001164508.2(NEB):c.5874G>A (p.Lys1958=)
|
|
|
NM_001164508.2(NEB):c.5876A>C (p.Lys1959Thr)
|
|
|
NM_001164508.2(NEB):c.5881C>T (p.Arg1961Cys)
|
|
|
NM_001164508.2(NEB):c.5886G>A (p.Gln1962=)
|
|
|
NM_001164508.2(NEB):c.5887C>T (p.His1963Tyr)
|
|
|
NM_001164508.2(NEB):c.5889C>T (p.His1963=)
|
rs2154168716
|
|
NM_001164508.2(NEB):c.5895C>A (p.Asp1965Glu)
|
|
|
NM_001164508.2(NEB):c.5913A>G (p.Thr1971=)
|
|
|
NM_001164508.2(NEB):c.5922C>T (p.Asp1974=)
|
rs1458776067
|
|
NM_001164508.2(NEB):c.5924C>T (p.Ser1975Leu)
|
|
|
NM_001164508.2(NEB):c.5935G>A (p.Val1979Ile)
|
|
|
NM_001164508.2(NEB):c.5935G>C (p.Val1979Leu)
|
rs771329756
|
|
NM_001164508.2(NEB):c.5936T>C (p.Val1979Ala)
|
rs749553879
|
|
NM_001164508.2(NEB):c.5940G>A (p.Leu1980=)
|
|
|
NM_001164508.2(NEB):c.5943C>T (p.Ala1981=)
|
rs756535708
|
|
NM_001164508.2(NEB):c.5945A>C (p.Gln1982Pro)
|
rs1212716508
|
|
NM_001164508.2(NEB):c.5959dup (p.Ile1987fs)
|
rs2154168541
|
|
NM_001164508.2(NEB):c.5970+15A>G
|
|
|
NM_001164508.2(NEB):c.5970+20A>G
|
|
|
NM_001164508.2(NEB):c.5970+7C>G
|
rs975930519
|
|
NM_001164508.2(NEB):c.5970+9T>G
|
rs2154168501
|
|
NM_001164508.2(NEB):c.5971-11T>C
|
|
|
NM_001164508.2(NEB):c.5971-12T>C
|
|
|
NM_001164508.2(NEB):c.5971-13G>T
|
rs2154157996
|
|
NM_001164508.2(NEB):c.5971-4del
|
rs2154157926
|
|
NM_001164508.2(NEB):c.5971-6T>C
|
rs2099118743
|
|
NM_001164508.2(NEB):c.5971-6dup
|
rs551520922
|
|
NM_001164508.2(NEB):c.5971-9T>C
|
rs528962426
|
|
NM_001164508.2(NEB):c.5971-9T>G
|
rs528962426
|
|
NM_001164508.2(NEB):c.5973T>A (p.His1991Gln)
|
|
|
NM_001164508.2(NEB):c.5976C>T (p.Leu1992=)
|
rs1433412595
|
|
NM_001164508.2(NEB):c.5977dup (p.Tyr1993fs)
|
rs2099118606
|
|
NM_001164508.2(NEB):c.5983C>T (p.Gln1995Ter)
|
|
|
NM_001164508.2(NEB):c.5985A>G (p.Gln1995=)
|
rs2099118542
|
|
NM_001164508.2(NEB):c.5986G>A (p.Ala1996Thr)
|
|
|
NM_001164508.2(NEB):c.5986G>C (p.Ala1996Pro)
|
|
|
NM_001164508.2(NEB):c.5987C>A (p.Ala1996Glu)
|
|
|
NM_001164508.2(NEB):c.5988A>G (p.Ala1996=)
|
rs1255321304
|
|
NM_001164508.2(NEB):c.598G>A (p.Ala200Thr)
|
|
|
NM_001164508.2(NEB):c.5991_5992del (p.Trp1997_Glu1998delinsTer)
|
|
|
NM_001164508.2(NEB):c.5992G>C (p.Glu1998Gln)
|
|
|
NM_001164508.2(NEB):c.5996C>T (p.Ala1999Val)
|
|
|
NM_001164508.2(NEB):c.6000C>T (p.Asp2000=)
|
|
|
NM_001164508.2(NEB):c.6013_6015delinsT (p.His2005fs)
|
|
|
NM_001164508.2(NEB):c.6018C>T (p.Ile2006=)
|
|
|
NM_001164508.2(NEB):c.6025G>C (p.Asp2009His)
|
|
|
NM_001164508.2(NEB):c.6030C>A (p.Ile2010=)
|
rs2154157760
|
|
NM_001164508.2(NEB):c.6031C>T (p.Pro2011Ser)
|
|
|
NM_001164508.2(NEB):c.6032C>T (p.Pro2011Leu)
|
rs2099118243
|
|
NM_001164508.2(NEB):c.6035A>G (p.Gln2012Arg)
|
rs2154157733
|
|
NM_001164508.2(NEB):c.6036G>A (p.Gln2012=)
|
|
|
NM_001164508.2(NEB):c.6036G>T (p.Gln2012His)
|
|
|
NM_001164508.2(NEB):c.6045_6048del (p.Ala2016fs)
|
|
|
NM_001164508.2(NEB):c.6046G>C (p.Ala2016Pro)
|
rs1558927613
|
|
NM_001164508.2(NEB):c.6051G>A (p.Lys2017=)
|
|
|
NM_001164508.2(NEB):c.6052G>A (p.Ala2018Thr)
|
|
|
NM_001164508.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys)
|
rs1553687045
|
|
NM_001164508.2(NEB):c.6067_6068del (p.Met2023fs)
|
|
|
NM_001164508.2(NEB):c.606C>T (p.Phe202=)
|
rs1426246334
|
|
NM_001164508.2(NEB):c.6075+13C>A
|
|
|
NM_001164508.2(NEB):c.6075+13C>T
|
|
|
NM_001164508.2(NEB):c.6075+14C>T
|
|
|
NM_001164508.2(NEB):c.6075+1G>A
|
rs1553472127
|
|
NM_001164508.2(NEB):c.6075+2T>G
|
rs2154157623
|
|
NM_001164508.2(NEB):c.6075+3A>T
|
rs986325764
|
|
NM_001164508.2(NEB):c.6075+8T>C
|
|
|
NM_001164508.2(NEB):c.6076-10C>G
|
|
|
NM_001164508.2(NEB):c.6076-12C>T
|
|
|
NM_001164508.2(NEB):c.6076-14G>T
|
|
|
NM_001164508.2(NEB):c.6076-20C>T
|
|
|
NM_001164508.2(NEB):c.6076-2A>C
|
rs1553469514
|
|
NM_001164508.2(NEB):c.6076-2A>G
|
rs1553469514
|
|
NM_001164508.2(NEB):c.6076-4A>G
|
rs2154154252
|
|
NM_001164508.2(NEB):c.6077A>G (p.Lys2026Arg)
|
|
|
NM_001164508.2(NEB):c.6078del (p.Lys2026fs)
|
rs1057516758
|
|
NM_001164508.2(NEB):c.6080T>A (p.Leu2027His)
|
|
|
NM_001164508.2(NEB):c.6081C>G (p.Leu2027=)
|
rs2154154209
|
|
NM_001164508.2(NEB):c.6084C>T (p.Tyr2028=)
|
|
|
NM_001164508.2(NEB):c.6085A>C (p.Lys2029Gln)
|
rs1387009037
|
|
NM_001164508.2(NEB):c.6086A>T (p.Lys2029Ile)
|
rs747575539
|
|
NM_001164508.2(NEB):c.6087A>G (p.Lys2029=)
|
rs2154154183
|
|
NM_001164508.2(NEB):c.6091T>A (p.Ser2031Thr)
|
|
|
NM_001164508.2(NEB):c.6093C>T (p.Ser2031=)
|
rs777443511
|
|
NM_001164508.2(NEB):c.6094T>C (p.Leu2032=)
|
|
|
NM_001164508.2(NEB):c.6103dup (p.Ser2035fs)
|
rs2154154153
|
|
NM_001164508.2(NEB):c.6112_6115del (p.Lys2038fs)
|
rs1575358650
|
|
NM_001164508.2(NEB):c.6115G>A (p.Gly2039Ser)
|
|
|
NM_001164508.2(NEB):c.611del (p.Lys204fs)
|
rs2150729369
|
|
NM_001164508.2(NEB):c.612+11G>T
|
|
|
NM_001164508.2(NEB):c.612+14C>T
|
|
|
NM_001164508.2(NEB):c.612+1G>A
|
rs1202331107
|
|
NM_001164508.2(NEB):c.612+20C>G
|
|
|
NM_001164508.2(NEB):c.6120T>C (p.Tyr2040=)
|
|
|
NM_001164508.2(NEB):c.6126C>G (p.Leu2042=)
|
rs1365332181
|
|
NM_001164508.2(NEB):c.6127A>G (p.Arg2043Gly)
|
rs1321911647
|
|
NM_001164508.2(NEB):c.613-14C>G
|
|
|
NM_001164508.2(NEB):c.613-14C>T
|
|
|
NM_001164508.2(NEB):c.613-15T>A
|
|
|
NM_001164508.2(NEB):c.613-16C>T
|
|
|
NM_001164508.2(NEB):c.613-19T>C
|
|
|
NM_001164508.2(NEB):c.613-1G>A
|
rs767693366
|
|
NM_001164508.2(NEB):c.613-1G>C
|
rs767693366
|
|
NM_001164508.2(NEB):c.613-2A>G
|
rs752893483
|
|
NM_001164508.2(NEB):c.613-7G>A
|
|
|
NM_001164508.2(NEB):c.613-8dup
|
rs757844100
|
|
NM_001164508.2(NEB):c.6138A>G (p.Ala2046=)
|
rs1394304728
|
|
NM_001164508.2(NEB):c.6142C>A (p.Pro2048Thr)
|
|
|
NM_001164508.2(NEB):c.6143C>T (p.Pro2048Leu)
|
|
|
NM_001164508.2(NEB):c.6155C>A (p.Ala2052Asp)
|
|
|
NM_001164508.2(NEB):c.6160G>T (p.Ala2054Ser)
|
|
|
NM_001164508.2(NEB):c.6164C>T (p.Ser2055Phe)
|
|
|
NM_001164508.2(NEB):c.6172A>T (p.Ile2058Phe)
|
rs543827269
|
|
NM_001164508.2(NEB):c.6179G>T (p.Ser2060Ile)
|
|
|
NM_001164508.2(NEB):c.617T>G (p.Leu206Arg)
|
|
|
NM_001164508.2(NEB):c.617del (p.Leu206fs)
|
rs2150664716
|
|
NM_001164508.2(NEB):c.6180T>C (p.Ser2060=)
|
|
|
NM_001164508.2(NEB):c.6183+18G>A
|
|
|
NM_001164508.2(NEB):c.6183+1G>A
|
rs557870969
|
|
NM_001164508.2(NEB):c.6183+1G>T
|
|
|
NM_001164508.2(NEB):c.6183+1del
|
rs1553468960
|
|
NM_001164508.2(NEB):c.6183+2T>A
|
rs1553468939
|
|
NM_001164508.2(NEB):c.6183+8C>T
|
|
|
NM_001164508.2(NEB):c.6184-13_6184-12del
|
|
|
NM_001164508.2(NEB):c.6184-14T>C
|
rs10173335
|
|
NM_001164508.2(NEB):c.6184-16C>A
|
|
|
NM_001164508.2(NEB):c.6184-17T>C
|
|
|
NM_001164508.2(NEB):c.6184-17_6184-16del
|
|
|
NM_001164508.2(NEB):c.6184-1G>A
|
rs2154149413
|
|
NM_001164508.2(NEB):c.6184-5C>T
|
rs2154149421
|
|
NM_001164508.2(NEB):c.6188A>G (p.Lys2063Arg)
|
|
|
NM_001164508.2(NEB):c.6189A>G (p.Lys2063=)
|
|
|
NM_001164508.2(NEB):c.618G>A (p.Leu206=)
|
rs2150664625
|
|
NM_001164508.2(NEB):c.6195G>A (p.Lys2065=)
|
|
|
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1])
|
rs767681176
|
|
NM_001164508.2(NEB):c.6198C>T (p.Tyr2066=)
|
rs1407129280
|
|
NM_001164508.2(NEB):c.6201T>C (p.Asn2067=)
|
|
|
NM_001164508.2(NEB):c.6204T>G (p.Tyr2068Ter)
|
rs2154149362
|
|
NM_001164508.2(NEB):c.6205G>T (p.Glu2069Ter)
|
|
|
NM_001164508.2(NEB):c.6208A>T (p.Lys2070Ter)
|
|
|
NM_001164508.2(NEB):c.6213G>A (p.Gly2071=)
|
|
|
NM_001164508.2(NEB):c.6216G>A (p.Lys2072=)
|
rs547625126
|
|
NM_001164508.2(NEB):c.6226G>A (p.Val2076Ile)
|
|
|
NM_001164508.2(NEB):c.6236G>A (p.Arg2079His)
|
rs760134969
|
|
NM_001164508.2(NEB):c.6237C>T (p.Arg2079=)
|
|
|
NM_001164508.2(NEB):c.6241C>T (p.Leu2081Phe)
|
|
|
NM_001164508.2(NEB):c.6242T>G (p.Leu2081Arg)
|
rs2099085781
|
|
NM_001164508.2(NEB):c.6242_6243del (p.Leu2081fs)
|
rs2154149251
|
|
NM_001164508.2(NEB):c.6243C>G (p.Leu2081=)
|
|
|
NM_001164508.2(NEB):c.6243C>T (p.Leu2081=)
|
rs774982299
|
|
NM_001164508.2(NEB):c.6246G>A (p.Glu2082=)
|
|
|
NM_001164508.2(NEB):c.6249T>C (p.Asp2083=)
|
|
|
NM_001164508.2(NEB):c.624_627delinsAGCAGCACG (p.Glu209fs)
|
|
|
NM_001164508.2(NEB):c.6254C>T (p.Pro2085Leu)
|
rs773025267
|
|
NM_001164508.2(NEB):c.6258A>G (p.Lys2086=)
|
|
|
NM_001164508.2(NEB):c.6263T>C (p.Val2088Ala)
|
|
|
NM_001164508.2(NEB):c.6264C>G (p.Val2088=)
|
rs2154149185
|
|
NM_001164508.2(NEB):c.6270C>T (p.Ser2090=)
|
|
|
NM_001164508.2(NEB):c.6271A>C (p.Met2091Leu)
|
|
|
NM_001164508.2(NEB):c.6271A>G (p.Met2091Val)
|
|
|
NM_001164508.2(NEB):c.627A>G (p.Glu209=)
|
|
|
NM_001164508.2(NEB):c.6288G>A (p.Met2096Ile)
|
rs2154149119
|
|
NM_001164508.2(NEB):c.6294T>C (p.Ser2098=)
|
|
|
NM_001164508.2(NEB):c.6294T>G (p.Ser2098=)
|
|
|
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln)
|
rs752836728
|
|
NM_001164508.2(NEB):c.6305A>G (p.Tyr2102Cys)
|
|
|
NM_001164508.2(NEB):c.6306C>T (p.Tyr2102=)
|
|
|
NM_001164508.2(NEB):c.6308A>G (p.Lys2103Arg)
|
|
|
NM_001164508.2(NEB):c.6321G>A (p.Glu2107=)
|
rs2154149018
|
|
NM_001164508.2(NEB):c.6323A>G (p.Asn2108Ser)
|
rs1558891493
|
|
NM_001164508.2(NEB):c.6324C>T (p.Asn2108=)
|
|
|
NM_001164508.2(NEB):c.632G>A (p.Trp211Ter)
|
|
|
NM_001164508.2(NEB):c.633G>A (p.Trp211Ter)
|
rs2099780461
|
|
NM_001164508.2(NEB):c.6340C>T (p.His2114Tyr)
|
|
|
NM_001164508.2(NEB):c.6342C>T (p.His2114=)
|
|
|
NM_001164508.2(NEB):c.6343_6344dup (p.Ala2117fs)
|
rs1575295628
|
|
NM_001164508.2(NEB):c.6351C>G (p.Ala2117=)
|
rs756476348
|
|
NM_001164508.2(NEB):c.6352G>A (p.Asp2118Asn)
|
|
|
NM_001164508.2(NEB):c.6353_6354insTTCATATT (p.Met2119fs)
|
|
|
NM_001164508.2(NEB):c.6355A>G (p.Met2119Val)
|
|
|
NM_001164508.2(NEB):c.6356_6357del (p.Met2119fs)
|
|
|
NM_001164508.2(NEB):c.6369G>C (p.Thr2123=)
|
rs540542570
|
|
NM_001164508.2(NEB):c.6378G>A (p.Lys2126=)
|
|
|
NM_001164508.2(NEB):c.6381T>C (p.Asp2127=)
|
|
|
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)
|
rs80344795
|
|
NM_001164508.2(NEB):c.6390C>A (p.Ala2130=)
|
|
|
NM_001164508.2(NEB):c.6394A>G (p.Ile2132Val)
|
rs755394940
|
|
NM_001164508.2(NEB):c.6399C>G (p.Thr2133=)
|
|
|
NM_001164508.2(NEB):c.639A>G (p.Ala213=)
|
|
|
NM_001164508.2(NEB):c.63del (p.Glu22fs)
|
rs2150994126
|
|
NM_001164508.2(NEB):c.6403A>G (p.Thr2135Ala)
|
|
|
NM_001164508.2(NEB):c.6411C>A (p.Tyr2137Ter)
|
|
|
NM_001164508.2(NEB):c.6427A>T (p.Lys2143Ter)
|
|
|
NM_001164508.2(NEB):c.642C>T (p.Asp214=)
|
rs373133009
|
|
NM_001164508.2(NEB):c.6430T>G (p.Tyr2144Asp)
|
|
|
NM_001164508.2(NEB):c.6435C>A (p.Ile2145=)
|
|
|
NM_001164508.2(NEB):c.6438C>T (p.Leu2146=)
|
|
|
NM_001164508.2(NEB):c.6444A>G (p.Pro2148=)
|
rs776361032
|
|
NM_001164508.2(NEB):c.6455A>G (p.Asn2152Ser)
|
|
|
NM_001164508.2(NEB):c.6456C>T (p.Asn2152=)
|
rs2154148597
|
|
NM_001164508.2(NEB):c.6463C>T (p.Leu2155=)
|
rs1575291742
|
|
NM_001164508.2(NEB):c.6467C>G (p.Thr2156Ser)
|
|
|
NM_001164508.2(NEB):c.6468C>T (p.Thr2156=)
|
rs939177563
|
|
NM_001164508.2(NEB):c.6469A>G (p.Arg2157Gly)
|
|
|
NM_001164508.2(NEB):c.6471G>A (p.Arg2157=)
|
rs1197761252
|
|
NM_001164508.2(NEB):c.6476T>G (p.Met2159Arg)
|
|
|
NM_001164508.2(NEB):c.6476_6477insTTATG (p.Met2159fs)
|
|
|
NM_001164508.2(NEB):c.6492T>C (p.Ser2164=)
|
rs2154148449
|
|
NM_001164508.2(NEB):c.6493G>A (p.Asp2165Asn)
|
rs1234273631
|
|
NM_001164508.2(NEB):c.6493G>C (p.Asp2165His)
|
rs1234273631
|
|
NM_001164508.2(NEB):c.6495+16A>C
|
rs1351696521
|
|
NM_001164508.2(NEB):c.6495+16A>G
|
|
|
NM_001164508.2(NEB):c.6495+17C>T
|
|
|
NM_001164508.2(NEB):c.6495+20G>A
|
|
|
NM_001164508.2(NEB):c.6495T>C (p.Asp2165=)
|
rs758831243
|
|
NM_001164508.2(NEB):c.6496-10T>A
|
|
|
NM_001164508.2(NEB):c.6496-13A>G
|
|
|
NM_001164508.2(NEB):c.6496-17G>C
|
|
|
NM_001164508.2(NEB):c.6496-4A>G
|
rs2154148017
|
|
NM_001164508.2(NEB):c.6496-5T>C
|
|
|
NM_001164508.2(NEB):c.6498T>C (p.Asn2166=)
|
rs1484392213
|
|
NM_001164508.2(NEB):c.64G>A (p.Glu22Lys)
|
rs2150994058
|
|
NM_001164508.2(NEB):c.6502T>C (p.Tyr2168His)
|
|
|
NM_001164508.2(NEB):c.6505A>T (p.Lys2169Ter)
|
|
|
NM_001164508.2(NEB):c.6507G>A (p.Lys2169=)
|
rs267598923
|
|
NM_001164508.2(NEB):c.6510A>G (p.Gln2170=)
|
|
|
NM_001164508.2(NEB):c.6522A>G (p.Glu2174=)
|
|
|
NM_001164508.2(NEB):c.6540C>T (p.Gly2180=)
|
|
|
NM_001164508.2(NEB):c.6542G>A (p.Trp2181Ter)
|
rs2099082250
|
|
NM_001164508.2(NEB):c.6546T>C (p.Ser2182=)
|
rs1575284577
|
|
NM_001164508.2(NEB):c.6547C>A (p.Pro2183Thr)
|
|
|
NM_001164508.2(NEB):c.6552A>G (p.Ala2184=)
|
|
|
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val)
|
rs373439650
|
|
NM_001164508.2(NEB):c.6558T>A (p.Ser2186=)
|
rs779503792
|
|
NM_001164508.2(NEB):c.6562del (p.Glu2188fs)
|
rs1558883594
|
|
NM_001164508.2(NEB):c.6564A>G (p.Glu2188=)
|
|
|
NM_001164508.2(NEB):c.6567G>A (p.Val2189=)
|
|
|
NM_001164508.2(NEB):c.6568G>A (p.Glu2190Lys)
|
rs2099082027
|
|
NM_001164508.2(NEB):c.6570G>A (p.Glu2190=)
|
rs2099082018
|
|
NM_001164508.2(NEB):c.6572del (p.Lys2191fs)
|
|
|
NM_001164508.2(NEB):c.6576C>T (p.Ala2192=)
|
rs2154147840
|
|
NM_001164508.2(NEB):c.6577A>G (p.Lys2193Glu)
|
|
|
NM_001164508.2(NEB):c.6578A>G (p.Lys2193Arg)
|
rs2099081977
|
|
NM_001164508.2(NEB):c.6583G>A (p.Ala2195Thr)
|
rs2099081952
|
|
NM_001164508.2(NEB):c.6591A>G (p.Glu2197=)
|
rs1553462437
|
|
NM_001164508.2(NEB):c.6594T>C (p.Tyr2198=)
|
rs2154147794
|
|
NM_001164508.2(NEB):c.6597C>T (p.Ala2199=)
|
rs2099081867
|
|
NM_001164508.2(NEB):c.6598A>G (p.Ser2200Gly)
|
rs1553462412
|
|
NM_001164508.2(NEB):c.6600T>C (p.Ser2200=)
|
rs2154147777
|
|
NM_001164508.2(NEB):c.6609del (p.Lys2203fs)
|
|
|
NM_001164508.2(NEB):c.660del (p.Tyr221fs)
|
rs2150663206
|
|
NM_001164508.2(NEB):c.6612C>T (p.Tyr2204=)
|
|
|
NM_001164508.2(NEB):c.6615C>A (p.Arg2205=)
|
|
|
NM_001164508.2(NEB):c.6615C>T (p.Arg2205=)
|
rs200018782
|
|
NM_001164508.2(NEB):c.6615_6624del (p.Gln2206fs)
|
|
|
NM_001164508.2(NEB):c.6621C>T (p.His2207=)
|
|
|
NM_001164508.2(NEB):c.6623C>T (p.Pro2208Leu)
|
|
|
NM_001164508.2(NEB):c.6624G>C (p.Pro2208=)
|
|
|
NM_001164508.2(NEB):c.6629A>C (p.Asn2210Thr)
|
rs768864684
|
|
NM_001164508.2(NEB):c.6629A>G (p.Asn2210Ser)
|
rs768864684
|
|
NM_001164508.2(NEB):c.662A>G (p.Tyr221Cys)
|
rs571230045
|
|
NM_001164508.2(NEB):c.6636G>A (p.Gln2212=)
|
|
|
NM_001164508.2(NEB):c.6638delinsGTA (p.Phe2213fs)
|
|
|
NM_001164508.2(NEB):c.6639del (p.Phe2213fs)
|
rs2154147691
|
|
NM_001164508.2(NEB):c.663T>C (p.Tyr221=)
|
|
|
NM_001164508.2(NEB):c.6642G>A (p.Lys2214=)
|
rs2154147684
|
|
NM_001164508.2(NEB):c.6644_6646delinsGACAG (p.Lys2215fs)
|
|
|
NM_001164508.2(NEB):c.6648G>A (p.Leu2216=)
|
|
|
NM_001164508.2(NEB):c.6660G>A (p.Met2220Ile)
|
rs199766131
|
|
NM_001164508.2(NEB):c.666T>C (p.Asn222=)
|
|
|
NM_001164508.2(NEB):c.6673dup (p.Ala2225fs)
|
|
|
NM_001164508.2(NEB):c.6678G>A (p.Lys2226=)
|
rs755634045
|
|
NM_001164508.2(NEB):c.6679C>G (p.Gln2227Glu)
|
|
|
NM_001164508.2(NEB):c.6684T>C (p.Asn2228=)
|
|
|
NM_001164508.2(NEB):c.6702+11C>T
|
|
|
NM_001164508.2(NEB):c.6702+13G>A
|
|
|
NM_001164508.2(NEB):c.6702+14T>C
|
|
|
NM_001164508.2(NEB):c.6702+18C>T
|
|
|
NM_001164508.2(NEB):c.6702+20T>C
|
|
|
NM_001164508.2(NEB):c.6703-10C>T
|
rs780740443
|
|
NM_001164508.2(NEB):c.6703-10dup
|
|
|
NM_001164508.2(NEB):c.6703-13del
|
rs763294980
|
|
NM_001164508.2(NEB):c.6703-13dup
|
rs763294980
|
|
NM_001164508.2(NEB):c.6703-19T>G
|
|
|
NM_001164508.2(NEB):c.6703-20C>T
|
|
|
NM_001164508.2(NEB):c.6708A>G (p.Leu2236=)
|
rs2099076283
|
|
NM_001164508.2(NEB):c.6709_6710del (p.Tyr2237fs)
|
|
|
NM_001164508.2(NEB):c.6710del (p.Tyr2237fs)
|
rs2099076260
|
|
NM_001164508.2(NEB):c.6713C>G (p.Thr2238Ser)
|
|
|
NM_001164508.2(NEB):c.6713C>T (p.Thr2238Ile)
|
|
|
NM_001164508.2(NEB):c.6719A>G (p.Asp2240Gly)
|
rs1362776689
|
|
NM_001164508.2(NEB):c.6720T>C (p.Asp2240=)
|
rs921924356
|
|
NM_001164508.2(NEB):c.6722G>A (p.Trp2241Ter)
|
|
|
NM_001164508.2(NEB):c.672C>T (p.Ser224=)
|
|
|
NM_001164508.2(NEB):c.6730G>A (p.Asp2244Asn)
|
|
|
NM_001164508.2(NEB):c.6732_6736del (p.Lys2245fs)
|
|
|
NM_001164508.2(NEB):c.6734dup (p.Thr2246fs)
|
rs2099076059
|
|
NM_001164508.2(NEB):c.6746A>C (p.His2249Pro)
|
|
|
NM_001164508.2(NEB):c.6747T>C (p.His2249=)
|
|
|
NM_001164508.2(NEB):c.6750G>A (p.Val2250=)
|
|
|
NM_001164508.2(NEB):c.6753del (p.Met2251fs)
|
rs2099075936
|
|
NM_001164508.2(NEB):c.6754C>T (p.Pro2252Ser)
|
|
|
NM_001164508.2(NEB):c.6756T>C (p.Pro2252=)
|
|
|
NM_001164508.2(NEB):c.6762A>C (p.Thr2254=)
|
rs563192073
|
|
NM_001164508.2(NEB):c.6762A>G (p.Thr2254=)
|
|
|
NM_001164508.2(NEB):c.6774A>G (p.Leu2258=)
|
rs2154146091
|
|
NM_001164508.2(NEB):c.6775C>T (p.Gln2259Ter)
|
rs773605767
|
|
NM_001164508.2(NEB):c.6778G>A (p.Ala2260Thr)
|
|
|
NM_001164508.2(NEB):c.6778G>C (p.Ala2260Pro)
|
|
|
NM_001164508.2(NEB):c.6780C>G (p.Ala2260=)
|
rs546132354
|
|
NM_001164508.2(NEB):c.6780C>T (p.Ala2260=)
|
|
|
NM_001164508.2(NEB):c.6783G>A (p.Lys2261=)
|
rs2099075727
|
|
NM_001164508.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del)
|
rs1209177139
|
|
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn)
|
rs2099075647
|
|
NM_001164508.2(NEB):c.6807+17A>C
|
|
|
NM_001164508.2(NEB):c.6807+20_6807+23del
|
|
|
NM_001164508.2(NEB):c.6807+20_6807+24del
|
|
|
NM_001164508.2(NEB):c.6808-15A>G
|
|
|
NM_001164508.2(NEB):c.6808-19G>T
|
|
|
NM_001164508.2(NEB):c.6808-2A>T
|
rs1553457607
|
|
NM_001164508.2(NEB):c.6808-4T>A
|
rs1186944329
|
|
NM_001164508.2(NEB):c.6808-4T>C
|
rs1186944329
|
|
NM_001164508.2(NEB):c.6808-4del
|
rs2099060261
|
|
NM_001164508.2(NEB):c.6808-7dup
|
rs2099060261
|
|
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)
|
rs1180339426
|
|
NM_001164508.2(NEB):c.681G>A (p.Leu227=)
|
|
|
NM_001164508.2(NEB):c.6824del (p.Gly2275fs)
|
rs2099060040
|
|
NM_001164508.2(NEB):c.6827G>T (p.Trp2276Leu)
|
|
|
NM_001164508.2(NEB):c.6828G>C (p.Trp2276Cys)
|
rs2099059984
|
|
NM_001164508.2(NEB):c.682A>T (p.Arg228Trp)
|
rs1363435897
|
|
NM_001164508.2(NEB):c.6831A>G (p.Glu2277=)
|
rs2154143356
|
|
NM_001164508.2(NEB):c.6843G>A (p.Lys2281=)
|
rs1575215956
|
|
NM_001164508.2(NEB):c.6851A>C (p.Tyr2284Ser)
|
rs778637750
|
|
NM_001164508.2(NEB):c.6852T>C (p.Tyr2284=)
|
|
|
NM_001164508.2(NEB):c.6861A>G (p.Pro2287=)
|
|
|
NM_001164508.2(NEB):c.6862G>C (p.Val2288Leu)
|
|
|
NM_001164508.2(NEB):c.6867T>C (p.Asp2289=)
|
rs2154143286
|
|
NM_001164508.2(NEB):c.6867_6869dup (p.Ala2290_Ile2291insAla)
|
|
|
NM_001164508.2(NEB):c.6870A>G (p.Ala2290=)
|
rs2154143270
|
|
NM_001164508.2(NEB):c.6873T>G (p.Ile2291Met)
|
rs1265000238
|
|
NM_001164508.2(NEB):c.6879A>G (p.Val2293=)
|
rs2154143235
|
|
NM_001164508.2(NEB):c.6884T>C (p.Leu2295Pro)
|
rs2099059670
|
|
NM_001164508.2(NEB):c.6884dup (p.Ala2296fs)
|
|
|
NM_001164508.2(NEB):c.6900A>G (p.Arg2300=)
|
rs1553457085
|
|
NM_001164508.2(NEB):c.6903C>T (p.Asp2301=)
|
rs376626113
|
|
NM_001164508.2(NEB):c.6914A>T (p.Asp2305Val)
|
|
|
NM_001164508.2(NEB):c.6915+1G>A
|
|
|
NM_001164508.2(NEB):c.6916-13T>C
|
|
|
NM_001164508.2(NEB):c.6916-16_6916-8del
|
rs2099021798
|
|
NM_001164508.2(NEB):c.6916-17_6916-16del
|
|
|
NM_001164508.2(NEB):c.6916-18T>C
|
|
|
NM_001164508.2(NEB):c.6916-18dup
|
|
|
NM_001164508.2(NEB):c.6916-5T>C
|
|
|
NM_001164508.2(NEB):c.6916-7A>G
|
rs2154135525
|
|
NM_001164508.2(NEB):c.6916-9T>C
|
rs2154135540
|
|
NM_001164508.2(NEB):c.6922T>A (p.Tyr2308Asn)
|
|
|
NM_001164508.2(NEB):c.6923A>G (p.Tyr2308Cys)
|
|
|
NM_001164508.2(NEB):c.6926A>C (p.Lys2309Thr)
|
|
|
NM_001164508.2(NEB):c.6927A>G (p.Lys2309=)
|
|
|
NM_001164508.2(NEB):c.6928C>A (p.Gln2310Lys)
|
|
|
NM_001164508.2(NEB):c.6928C>G (p.Gln2310Glu)
|
|
|
NM_001164508.2(NEB):c.6931G>A (p.Gly2311Ser)
|
rs757526825
|
|
NM_001164508.2(NEB):c.6935A>G (p.Tyr2312Cys)
|
|
|
NM_001164508.2(NEB):c.6938G>A (p.Arg2313Gln)
|
|
|
NM_001164508.2(NEB):c.6942G>A (p.Lys2314=)
|
|
|
NM_001164508.2(NEB):c.6945A>G (p.Gln2315=)
|
|
|
NM_001164508.2(NEB):c.6946C>G (p.Leu2316Val)
|
|
|
NM_001164508.2(NEB):c.6947_6954del (p.Leu2316fs)
|
|
|
NM_001164508.2(NEB):c.6948T>C (p.Leu2316=)
|
rs1275672191
|
|
NM_001164508.2(NEB):c.6950G>C (p.Gly2317Ala)
|
|
|
NM_001164508.2(NEB):c.6951C>T (p.Gly2317=)
|
rs1196967267
|
|
NM_001164508.2(NEB):c.6954C>G (p.His2318Gln)
|
|
|
NM_001164508.2(NEB):c.6956A>G (p.His2319Arg)
|
|
|
NM_001164508.2(NEB):c.6956_6967del (p.His2319_Phe2322del)
|
rs1553449735
|
|
NM_001164508.2(NEB):c.6961G>A (p.Gly2321Arg)
|
rs1575132924
|
|
NM_001164508.2(NEB):c.6967C>A (p.Arg2323=)
|
|
|
NM_001164508.2(NEB):c.6975G>A (p.Leu2325=)
|
|
|
NM_001164508.2(NEB):c.6990A>G (p.Lys2330=)
|
rs2154135341
|
|
NM_001164508.2(NEB):c.6993del (p.Val2332fs)
|
rs2099021112
|
|
NM_001164508.2(NEB):c.6996G>A (p.Val2332=)
|
|
|
NM_001164508.2(NEB):c.69G>T (p.Val23=)
|
rs2099800863
|
|
NM_001164508.2(NEB):c.7003A>G (p.Met2335Val)
|
|
|
NM_001164508.2(NEB):c.7004T>C (p.Met2335Thr)
|
rs769646337
|
|
NM_001164508.2(NEB):c.7025G>C (p.Ser2342Thr)
|
rs372132667
|
|
NM_001164508.2(NEB):c.7026T>C (p.Ser2342=)
|
rs2154135288
|
|
NM_001164508.2(NEB):c.7030A>C (p.Arg2344=)
|
|
|
NM_001164508.2(NEB):c.7033G>C (p.Glu2345Gln)
|
|
|
NM_001164508.2(NEB):c.7035A>G (p.Glu2345=)
|
rs2154135279
|
|
NM_001164508.2(NEB):c.7039A>G (p.Lys2347Glu)
|
|
|
NM_001164508.2(NEB):c.7042A>T (p.Lys2348Ter)
|
|
|
NM_001164508.2(NEB):c.7054A>T (p.Lys2352Ter)
|
|
|
NM_001164508.2(NEB):c.7058G>A (p.Trp2353Ter)
|
|
|
NM_001164508.2(NEB):c.7065T>A (p.Thr2355=)
|
rs2154135246
|
|
NM_001164508.2(NEB):c.706G>C (p.Ala236Pro)
|
|
|
NM_001164508.2(NEB):c.7071C>T (p.Phe2357=)
|
|
|
NM_001164508.2(NEB):c.7075_7078del (p.Ser2359fs)
|
|
|
NM_001164508.2(NEB):c.7076G>C (p.Ser2359Thr)
|
|
|
NM_001164508.2(NEB):c.708T>C (p.Ala236=)
|
|
|
NM_001164508.2(NEB):c.708T>G (p.Ala236=)
|
rs2150661224
|
|
NM_001164508.2(NEB):c.7092G>A (p.Leu2364=)
|
|
|
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)
|
|
|
NM_001164508.2(NEB):c.7095A>C (p.Gly2365=)
|
|
|
NM_001164508.2(NEB):c.7096G>C (p.Val2366Leu)
|
|
|
NM_001164508.2(NEB):c.709C>T (p.Leu237Phe)
|
|
|
NM_001164508.2(NEB):c.7101A>G (p.Val2367=)
|
|
|
NM_001164508.2(NEB):c.7102C>G (p.Leu2368Val)
|
rs1553449170
|
|
NM_001164508.2(NEB):c.7102C>T (p.Leu2368=)
|
|
|
NM_001164508.2(NEB):c.7107C>T (p.Ala2369=)
|
|
|
NM_001164508.2(NEB):c.711C>T (p.Leu237=)
|
rs1421194169
|
|
NM_001164508.2(NEB):c.7120_7122dup (p.Glu2374dup)
|
rs1553449134
|
|
NM_001164508.2(NEB):c.7135G>A (p.Val2379Met)
|
|
|
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del)
|
rs1326831435
|
|
NM_001164508.2(NEB):c.7138G>A (p.Asp2380Asn)
|
|
|
NM_001164508.2(NEB):c.7144A>C (p.Lys2382Gln)
|
|
|
NM_001164508.2(NEB):c.7144A>G (p.Lys2382Glu)
|
|
|
NM_001164508.2(NEB):c.7146del (p.Asn2383fs)
|
|
|
NM_001164508.2(NEB):c.7152C>A (p.Tyr2384Ter)
|
rs2099020340
|
|
NM_001164508.2(NEB):c.7157A>G (p.His2386Arg)
|
|
|
NM_001164508.2(NEB):c.7158T>C (p.His2386=)
|
rs1051050497
|
|
NM_001164508.2(NEB):c.7160A>G (p.Gln2387Arg)
|
rs2099020273
|
|
NM_001164508.2(NEB):c.7161G>A (p.Gln2387=)
|
rs1388356625
|
|
NM_001164508.2(NEB):c.7163G>A (p.Trp2388Ter)
|
rs2154135091
|
|
NM_001164508.2(NEB):c.717+10del
|
|
|
NM_001164508.2(NEB):c.717+17T>C
|
|
|
NM_001164508.2(NEB):c.717+17T>G
|
|
|
NM_001164508.2(NEB):c.717+19G>A
|
|
|
NM_001164508.2(NEB):c.717+1G>A
|
rs1577833924
|
|
NM_001164508.2(NEB):c.7173G>A (p.Leu2391=)
|
|
|
NM_001164508.2(NEB):c.7176T>C (p.Pro2392=)
|
rs1042667385
|
|
NM_001164508.2(NEB):c.7179T>C (p.Asp2393=)
|
rs2154135050
|
|
NM_001164508.2(NEB):c.718-15_718-14del
|
rs763753126
|
|
NM_001164508.2(NEB):c.718-1G>A
|
|
|
NM_001164508.2(NEB):c.718-20C>T
|
|
|
NM_001164508.2(NEB):c.718-5A>T
|
|
|
NM_001164508.2(NEB):c.718-8T>C
|
|
|
NM_001164508.2(NEB):c.7182G>A (p.Gln2394=)
|
|
|
NM_001164508.2(NEB):c.7188T>C (p.Asp2396=)
|
rs2154135035
|
|
NM_001164508.2(NEB):c.7194G>A (p.Val2398=)
|
|
|
NM_001164508.2(NEB):c.7194G>C (p.Val2398=)
|
|
|
NM_001164508.2(NEB):c.7197A>C (p.Gln2399His)
|
rs2099020027
|
|
NM_001164508.2(NEB):c.7198G>A (p.Ala2400Thr)
|
|
|
NM_001164508.2(NEB):c.71C>A (p.Pro24Gln)
|
|
|
NM_001164508.2(NEB):c.7205A>G (p.Lys2402Arg)
|
|
|
NM_001164508.2(NEB):c.7206A>G (p.Lys2402=)
|
|
|
NM_001164508.2(NEB):c.7207G>C (p.Val2403Leu)
|
|
|
NM_001164508.2(NEB):c.7208T>A (p.Val2403Asp)
|
|
|
NM_001164508.2(NEB):c.7211A>G (p.Tyr2404Cys)
|
|
|
NM_001164508.2(NEB):c.7218G>T (p.Leu2406=)
|
|
|
NM_001164508.2(NEB):c.7219C>T (p.Gln2407Ter)
|
rs2099019846
|
|
NM_001164508.2(NEB):c.7227+2T>C
|
rs1553448527
|
|
NM_001164508.2(NEB):c.7227+7T>C
|
rs752127208
|
|
NM_001164508.2(NEB):c.7227+9C>G
|
rs2154134931
|
|
NM_001164508.2(NEB):c.7228-18_7228-15dup
|
rs778540783
|
|
NM_001164508.2(NEB):c.7228-3C>G
|
rs577996029
|
|
NM_001164508.2(NEB):c.7228-6T>G
|
|
|
NM_001164508.2(NEB):c.7228-7T>C
|
rs2154134476
|
|
NM_001164508.2(NEB):c.7228-8T>A
|
rs2154134484
|
|
NM_001164508.2(NEB):c.7235A>G (p.Tyr2412Cys)
|
rs1575122611
|
|
NM_001164508.2(NEB):c.7236T>C (p.Tyr2412=)
|
|
|
NM_001164508.2(NEB):c.724del (p.Tyr242fs)
|
rs1577548638
|
|
NM_001164508.2(NEB):c.7253G>A (p.Trp2418Ter)
|
rs1575122070
|
|
NM_001164508.2(NEB):c.7260A>G (p.Arg2420=)
|
|
|
NM_001164508.2(NEB):c.7265T>G (p.Ile2422Arg)
|
|
|
NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs)
|
rs1057516348
|
|
NM_001164508.2(NEB):c.7279T>C (p.Leu2427=)
|
rs564510167
|
|
NM_001164508.2(NEB):c.727A>G (p.Lys243Glu)
|
|
|
NM_001164508.2(NEB):c.7282G>A (p.Gly2428Ser)
|
|
|
NM_001164508.2(NEB):c.7284T>A (p.Gly2428=)
|
rs756723106
|
|
NM_001164508.2(NEB):c.7284T>G (p.Gly2428=)
|
rs756723106
|
|
NM_001164508.2(NEB):c.7289T>C (p.Leu2430Ser)
|
|
|
NM_001164508.2(NEB):c.728A>G (p.Lys243Arg)
|
rs1031592589
|
|
NM_001164508.2(NEB):c.7296A>G (p.Ala2432=)
|
rs2154134321
|
|
NM_001164508.2(NEB):c.72G>A (p.Pro24=)
|
|
|
NM_001164508.2(NEB):c.72G>T (p.Pro24=)
|
|
|
NM_001164508.2(NEB):c.7305C>T (p.Asn2435=)
|
rs2099016941
|
|
NM_001164508.2(NEB):c.7308G>A (p.Lys2436=)
|
rs2154134306
|
|
NM_001164508.2(NEB):c.7309C>A (p.Arg2437=)
|
|
|
NM_001164508.2(NEB):c.7309C>G (p.Arg2437Gly)
|
|
|
NM_001164508.2(NEB):c.7310G>T (p.Arg2437Leu)
|
rs61730780
|
|
NM_001164508.2(NEB):c.7312G>A (p.Ala2438Thr)
|
rs202233025
|
|
NM_001164508.2(NEB):c.7318G>A (p.Glu2440Lys)
|
|
|
NM_001164508.2(NEB):c.7324A>G (p.Ile2442Val)
|
rs1553447698
|
|
NM_001164508.2(NEB):c.7328G>T (p.Ser2443Ile)
|
|
|
NM_001164508.2(NEB):c.7329_7330del (p.Ser2443fs)
|
|
|
NM_001164508.2(NEB):c.732del (p.Gly245fs)
|
rs1486623736
|
|
NM_001164508.2(NEB):c.7335G>A (p.Lys2445=)
|
rs886043134
|
|
NM_001164508.2(NEB):c.7335_7338del (p.Lys2445fs)
|
rs2154134253
|
|
NM_001164508.2(NEB):c.7339T>C (p.Tyr2447His)
|
|
|
NM_001164508.2(NEB):c.7344T>A (p.Arg2448=)
|
|
|
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter)
|
rs2154134234
|
|
NM_001164508.2(NEB):c.7347G>A (p.Gln2449=)
|
rs769042183
|
|
NM_001164508.2(NEB):c.7356C>T (p.Asp2452=)
|
|
|
NM_001164508.2(NEB):c.7362C>G (p.Asn2454Lys)
|
rs1057518861
|
|
NM_001164508.2(NEB):c.7369A>C (p.Thr2457Pro)
|
|
|
NM_001164508.2(NEB):c.736del (p.Leu246fs)
|
rs2099762296
|
|
NM_001164508.2(NEB):c.7371C>G (p.Thr2457=)
|
rs2154134156
|
|
NM_001164508.2(NEB):c.7371C>T (p.Thr2457=)
|
|
|
NM_001164508.2(NEB):c.7372A>G (p.Ser2458Gly)
|
|
|
NM_001164508.2(NEB):c.7373_7374delinsAA (p.Ser2458Lys)
|
|
|
NM_001164508.2(NEB):c.7377T>A (p.Ile2459=)
|
|
|
NM_001164508.2(NEB):c.7386C>T (p.Ala2462=)
|
rs770687273
|
|
NM_001164508.2(NEB):c.738C>G (p.Leu246=)
|
|
|
NM_001164508.2(NEB):c.7390G>A (p.Asp2464Asn)
|
|
|
NM_001164508.2(NEB):c.7395A>T (p.Ile2465=)
|
|
|
NM_001164508.2(NEB):c.7398T>A (p.Val2466=)
|
rs754735623
|
|
NM_001164508.2(NEB):c.7398T>C (p.Val2466=)
|
rs754735623
|
|
NM_001164508.2(NEB):c.739del (p.Ala247fs)
|
rs2150350376
|
|
NM_001164508.2(NEB):c.7407G>A (p.Lys2469=)
|
rs2154134074
|
|
NM_001164508.2(NEB):c.7416C>T (p.Ala2472=)
|
rs2154134055
|
|
NM_001164508.2(NEB):c.741T>C (p.Ala247=)
|
|
|
NM_001164508.2(NEB):c.7421A>C (p.Asn2474Thr)
|
|
|
NM_001164508.2(NEB):c.7431+1919_7536+374del
|
|
|
NM_001164508.2(NEB):c.7431+7A>C
|
rs2099015777
|
|
NM_001164508.2(NEB):c.7431+9C>T
|
rs1486843790
|
|
NM_001164508.2(NEB):c.7432-10_7432-4del
|
|
|
NM_001164508.2(NEB):c.7432-14A>G
|
|
|
NM_001164508.2(NEB):c.7432-15T>C
|
|
|
NM_001164508.2(NEB):c.7432-19T>G
|
|
|
NM_001164508.2(NEB):c.7432-1G>A
|
rs2154122716
|
|
NM_001164508.2(NEB):c.7432-2A>G
|
rs1553990438
|
|
NM_001164508.2(NEB):c.7432-8T>C
|
rs1575009726
|
|
NM_001164508.2(NEB):c.7434A>T (p.Arg2478Ser)
|
|
|
NM_001164508.2(NEB):c.7449T>C (p.Ala2483=)
|
rs2154122656
|
|
NM_001164508.2(NEB):c.7453G>A (p.Asp2485Asn)
|
|
|
NM_001164508.2(NEB):c.7458A>G (p.Lys2486=)
|
rs2154122629
|
|
NM_001164508.2(NEB):c.745C>T (p.Gln249Ter)
|
|
|
NM_001164508.2(NEB):c.7469A>C (p.Gln2490Pro)
|
rs1446110323
|
|
NM_001164508.2(NEB):c.7470G>A (p.Gln2490=)
|
rs2154122611
|
|
NM_001164508.2(NEB):c.7473C>T (p.Ile2491=)
|
rs760783298
|
|
NM_001164508.2(NEB):c.7485T>C (p.Pro2495=)
|
|
|
NM_001164508.2(NEB):c.7487A>G (p.Asp2496Gly)
|
rs767734665
|
|
NM_001164508.2(NEB):c.7494T>C (p.Pro2498=)
|
rs2154122534
|
|
NM_001164508.2(NEB):c.7497C>T (p.Asp2499=)
|
rs2154122524
|
|
NM_001164508.2(NEB):c.7498A>G (p.Ile2500Val)
|
|
|
NM_001164508.2(NEB):c.74G>A (p.Gly25Glu)
|
|
|
NM_001164508.2(NEB):c.7500T>C (p.Ile2500=)
|
|
|
NM_001164508.2(NEB):c.7511_7512del (p.Lys2504fs)
|
|
|
NM_001164508.2(NEB):c.7515A>C (p.Ala2505=)
|
rs763516008
|
|
NM_001164508.2(NEB):c.7515A>G (p.Ala2505=)
|
|
|
NM_001164508.2(NEB):c.7518C>T (p.Asn2506=)
|
|
|
NM_001164508.2(NEB):c.7523T>C (p.Ile2508Thr)
|
|
|
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)
|
rs878854368
|
|
NM_001164508.2(NEB):c.7527_7531del (p.Asn2509fs)
|
rs2154122471
|
|
NM_001164508.2(NEB):c.7533T>C (p.Ser2511=)
|
|
|
NM_001164508.2(NEB):c.7536+11A>G
|
rs2154122419
|
|
NM_001164508.2(NEB):c.7536+12A>G
|
|
|
NM_001164508.2(NEB):c.7536+15T>C
|
|
|
NM_001164508.2(NEB):c.7536+15T>G
|
|
|
NM_001164508.2(NEB):c.7536+17A>G
|
|
|
NM_001164508.2(NEB):c.7536+1G>A
|
|
|
NM_001164508.2(NEB):c.7536+20A>G
|
|
|
NM_001164508.2(NEB):c.7536+7T>C
|
|
|
NM_001164508.2(NEB):c.7536+8T>A
|
|
|
NM_001164508.2(NEB):c.7537-11T>C
|
|
|
NM_001164508.2(NEB):c.7537-12A>G
|
|
|
NM_001164508.2(NEB):c.7537-3C>A
|
rs886054946
|
|
NM_001164508.2(NEB):c.7537A>T (p.Lys2513Ter)
|
|
|
NM_001164508.2(NEB):c.7538A>G (p.Lys2513Arg)
|
rs190059793
|
|
NM_001164508.2(NEB):c.7543T>C (p.Tyr2515His)
|
|
|
NM_001164508.2(NEB):c.7543dup (p.Tyr2515fs)
|
|
|
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)
|
|
|
NM_001164508.2(NEB):c.7549_7551del (p.Met2517del)
|
rs1553985641
|
|
NM_001164508.2(NEB):c.7551_7558del (p.Met2517fs)
|
|
|
NM_001164508.2(NEB):c.7569G>C (p.Lys2523Asn)
|
|
|
NM_001164508.2(NEB):c.756A>G (p.Gln252=)
|
rs745503224
|
|
NM_001164508.2(NEB):c.7588C>T (p.Pro2530Ser)
|
|
|
NM_001164508.2(NEB):c.7599C>G (p.Ala2533=)
|
|
|
NM_001164508.2(NEB):c.759C>T (p.Phe253=)
|
rs1577547012
|
|
NM_001164508.2(NEB):c.75A>G (p.Gly25=)
|
rs2150993484
|
|
NM_001164508.2(NEB):c.7601_7602insCCCCAGCTCTCTCC (p.Ile2536fs)
|
|
|
NM_001164508.2(NEB):c.7603C>A (p.Pro2535Thr)
|
|
|
NM_001164508.2(NEB):c.7611del (p.Ala2538fs)
|
|
|
NM_001164508.2(NEB):c.7623C>G (p.Ala2541=)
|
rs371570995
|
|
NM_001164508.2(NEB):c.7626C>G (p.Ser2542=)
|
rs1574957341
|
|
NM_001164508.2(NEB):c.7627C>A (p.Arg2543=)
|
rs368148074
|
|
NM_001164508.2(NEB):c.7629G>C (p.Arg2543=)
|
|
|
NM_001164508.2(NEB):c.7644+17T>C
|
|
|
NM_001164508.2(NEB):c.7644+8T>G
|
rs2154117770
|
|
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=)
|
rs916950454
|
|
NM_001164508.2(NEB):c.7645-12T>A
|
|
|
NM_001164508.2(NEB):c.7645-14T>C
|
rs886054945
|
|
NM_001164508.2(NEB):c.7645-14dup
|
rs1299254549
|
|
NM_001164508.2(NEB):c.7645-15A>T
|
|
|
NM_001164508.2(NEB):c.7645-16_7645-15del
|
|
|
NM_001164508.2(NEB):c.7645-6C>T
|
|
|
NM_001164508.2(NEB):c.7645-6dup
|
|
|
NM_001164508.2(NEB):c.7645-7del
|
|
|
NM_001164508.2(NEB):c.7646A>G (p.Tyr2549Cys)
|
rs1553984101
|
|
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309
|
|
NM_001164508.2(NEB):c.7647C>T (p.Tyr2549=)
|
|
|
NM_001164508.2(NEB):c.764C>G (p.Pro255Arg)
|
rs1553663195
|
|
NM_001164508.2(NEB):c.7650G>A (p.Lys2550=)
|
|
|
NM_001164508.2(NEB):c.7667G>A (p.Arg2556His)
|
|
|
NM_001164508.2(NEB):c.7667G>T (p.Arg2556Leu)
|
|
|
NM_001164508.2(NEB):c.7668C>T (p.Arg2556=)
|
|
|
NM_001164508.2(NEB):c.7679G>T (p.Gly2560Val)
|
|
|
NM_001164508.2(NEB):c.7692T>A (p.Gly2564=)
|
rs773807220
|
|
NM_001164508.2(NEB):c.7697G>A (p.Arg2566Gln)
|
|
|
NM_001164508.2(NEB):c.7697G>C (p.Arg2566Pro)
|
|
|
NM_001164508.2(NEB):c.7698G>C (p.Arg2566=)
|
rs2154116717
|
|
NM_001164508.2(NEB):c.7701C>T (p.Asn2567=)
|
rs2098921858
|
|
NM_001164508.2(NEB):c.7704T>A (p.Ile2568=)
|
|
|
NM_001164508.2(NEB):c.7706A>C (p.Glu2569Ala)
|
|
|
NM_001164508.2(NEB):c.7707A>G (p.Glu2569=)
|
rs2154116661
|
|
NM_001164508.2(NEB):c.7710T>A (p.Asp2570Glu)
|
|
|
NM_001164508.2(NEB):c.7710T>C (p.Asp2570=)
|
|
|
NM_001164508.2(NEB):c.7713C>T (p.Asp2571=)
|
|
|
NM_001164508.2(NEB):c.771_772inv (p.Asp258Asn)
|
|
|
NM_001164508.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer)
|
rs1553983416
|
|
NM_001164508.2(NEB):c.7733T>C (p.Met2578Thr)
|
|
|
NM_001164508.2(NEB):c.7740G>A (p.Val2580=)
|
rs2098921464
|
|
NM_001164508.2(NEB):c.7743C>T (p.Ala2581=)
|
|
|
NM_001164508.2(NEB):c.7751A>G (p.Gln2584Arg)
|
|
|
NM_001164508.2(NEB):c.7761G>A (p.Arg2587=)
|
rs869312958
|
|
NM_001164508.2(NEB):c.7762G>A (p.Glu2588Lys)
|
rs756738995
|
|
NM_001164508.2(NEB):c.7764G>A (p.Glu2588=)
|
|
|
NM_001164508.2(NEB):c.7769A>G (p.Lys2590Arg)
|
|
|
NM_001164508.2(NEB):c.776C>T (p.Pro259Leu)
|
|
|
NM_001164508.2(NEB):c.7770G>A (p.Lys2590=)
|
rs952871710
|
|
NM_001164508.2(NEB):c.7785G>A (p.Lys2595=)
|
|
|
NM_001164508.2(NEB):c.778C>T (p.Pro260Ser)
|
rs1425616065
|
|
NM_001164508.2(NEB):c.78+12C>T
|
|
|
NM_001164508.2(NEB):c.78+16C>A
|
rs369843963
|
|
NM_001164508.2(NEB):c.78+19C>T
|
|
|
NM_001164508.2(NEB):c.78+8C>A
|
rs1178512243
|
|
NM_001164508.2(NEB):c.78+9C>G
|
rs373141155
|
|
NM_001164508.2(NEB):c.78+9C>T
|
rs373141155
|
|
NM_001164508.2(NEB):c.7802G>A (p.Ser2601Asn)
|
|
|
NM_001164508.2(NEB):c.7803C>T (p.Ser2601=)
|
rs1157483366
|
|
NM_001164508.2(NEB):c.7813del (p.Asp2605fs)
|
|
|
NM_001164508.2(NEB):c.7821G>A (p.Leu2607=)
|
rs2154116437
|
|
NM_001164508.2(NEB):c.7824G>C (p.Gly2608=)
|
rs1185596471
|
|
NM_001164508.2(NEB):c.7831T>C (p.Leu2611=)
|
rs772164378
|
|
NM_001164508.2(NEB):c.7836C>T (p.Ala2612=)
|
|
|
NM_001164508.2(NEB):c.7837_7839delinsCAC (p.Lys2613His)
|
|
|
NM_001164508.2(NEB):c.783T>C (p.Asp261=)
|
rs184395708
|
|
NM_001164508.2(NEB):c.7844G>T (p.Cys2615Phe)
|
rs749508488
|
|
NM_001164508.2(NEB):c.7851C>A (p.Thr2617=)
|
rs1553982484
|
|
NM_001164508.2(NEB):c.7851C>G (p.Thr2617=)
|
|
|
NM_001164508.2(NEB):c.7857C>T (p.Val2619=)
|
|
|
NM_001164508.2(NEB):c.7865T>C (p.Val2622Ala)
|
rs563691738
|
|
NM_001164508.2(NEB):c.7865T>G (p.Val2622Gly)
|
rs563691738
|
|
NM_001164508.2(NEB):c.7867G>A (p.Asp2623Asn)
|
rs543795912
|
|
NM_001164508.2(NEB):c.7872C>T (p.Tyr2624=)
|
|
|
NM_001164508.2(NEB):c.7882C>G (p.Leu2628Val)
|
rs1222037893
|
|
NM_001164508.2(NEB):c.7882C>T (p.Leu2628=)
|
rs1222037893
|
|
NM_001164508.2(NEB):c.7884G>A (p.Leu2628=)
|
rs1574938723
|
|
NM_001164508.2(NEB):c.7887C>T (p.His2629=)
|
|
|
NM_001164508.2(NEB):c.7892G>A (p.Trp2631Ter)
|
rs2098919758
|
|
NM_001164508.2(NEB):c.7899C>T (p.Cys2633=)
|
rs2098919716
|
|
NM_001164508.2(NEB):c.78G>A (p.Glu26=)
|
rs1553702617
|
|
NM_001164508.2(NEB):c.79-11C>G
|
|
|
NM_001164508.2(NEB):c.79-13A>G
|
|
|
NM_001164508.2(NEB):c.79-15A>G
|
rs1011570211
|
|
NM_001164508.2(NEB):c.79-18T>C
|
|
|
NM_001164508.2(NEB):c.79-18T>G
|
|
|
NM_001164508.2(NEB):c.79-1G>A
|
|
|
NM_001164508.2(NEB):c.79-20A>C
|
|
|
NM_001164508.2(NEB):c.79-20A>G
|
|
|
NM_001164508.2(NEB):c.79-8A>C
|
rs2150926372
|
|
NM_001164508.2(NEB):c.7900del (p.Leu2634fs)
|
|
|
NM_001164508.2(NEB):c.7902G>A (p.Leu2634=)
|
rs1213159316
|
|
NM_001164508.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn)
|
rs1574937918
|
|
NM_001164508.2(NEB):c.7915G>A (p.Asp2639Asn)
|
|
|
NM_001164508.2(NEB):c.7920C>G (p.Val2640=)
|
|
|
NM_001164508.2(NEB):c.7925A>G (p.His2642Arg)
|
|
|
NM_001164508.2(NEB):c.7926T>C (p.His2642=)
|
|
|
NM_001164508.2(NEB):c.7930C>T (p.Arg2644Trp)
|
|
|
NM_001164508.2(NEB):c.7941T>C (p.Tyr2647=)
|
|
|
NM_001164508.2(NEB):c.7948del (p.Gln2650fs)
|
|
|
NM_001164508.2(NEB):c.7956+13T>C
|
|
|
NM_001164508.2(NEB):c.7956+1G>A
|
rs2098919015
|
|
NM_001164508.2(NEB):c.7956+20T>A
|
|
|
NM_001164508.2(NEB):c.7956+4A>G
|
rs886054944
|
|
NM_001164508.2(NEB):c.7956+9A>G
|
|
|
NM_001164508.2(NEB):c.7956+9A>T
|
rs1280854795
|
|
NM_001164508.2(NEB):c.7957-10G>A
|
|
|
NM_001164508.2(NEB):c.7957-13C>G
|
|
|
NM_001164508.2(NEB):c.7957-17G>A
|
|
|
NM_001164508.2(NEB):c.7957-17G>C
|
|
|
NM_001164508.2(NEB):c.7957-17G>T
|
|
|
NM_001164508.2(NEB):c.7957-20T>A
|
|
|
NM_001164508.2(NEB):c.7957-7C>A
|
|
|
NM_001164508.2(NEB):c.7957-7C>T
|
|
|
NM_001164508.2(NEB):c.7957-8A>C
|
|
|
NM_001164508.2(NEB):c.795C>T (p.Ala265=)
|
rs758702606
|
|
NM_001164508.2(NEB):c.7962G>A (p.Leu2654=)
|
rs947598445
|
|
NM_001164508.2(NEB):c.7962G>T (p.Leu2654Phe)
|
|
|
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys)
|
rs1389374032
|
|
NM_001164508.2(NEB):c.7968G>A (p.Lys2656=)
|
|
|
NM_001164508.2(NEB):c.7968G>C (p.Lys2656Asn)
|
|
|
NM_001164508.2(NEB):c.7978_7979del (p.Gln2660fs)
|
|
|
NM_001164508.2(NEB):c.7980G>A (p.Gln2660=)
|
|
|
NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)
|
|
|
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys)
|
rs756956766
|
|
NM_001164508.2(NEB):c.7984del (p.Trp2661_Leu2662insTer)
|
rs2098910159
|
|
NM_001164508.2(NEB):c.7986A>G (p.Leu2662=)
|
rs931355796
|
|
NM_001164508.2(NEB):c.7993A>T (p.Ile2665Phe)
|
rs2098910017
|
|
NM_001164508.2(NEB):c.7997del (p.Gly2666fs)
|
rs2098909937
|
|
NM_001164508.2(NEB):c.8019C>A (p.Leu2673=)
|
rs755883171
|
|
NM_001164508.2(NEB):c.8019C>G (p.Leu2673=)
|
rs755883171
|
|
NM_001164508.2(NEB):c.8025T>C (p.Asp2675=)
|
rs2154114713
|
|
NM_001164508.2(NEB):c.8026G>A (p.Glu2676Lys)
|
|
|
NM_001164508.2(NEB):c.8027A>G (p.Glu2676Gly)
|
rs2154114705
|
|
NM_001164508.2(NEB):c.8029A>G (p.Lys2677Glu)
|
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
NM_001164508.2(NEB):c.8035A>G (p.Lys2679Glu)
|
rs549227905
|
|
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)
|
rs1057516676
|
|
NM_001164508.2(NEB):c.8042C>T (p.Ala2681Val)
|
|
|
NM_001164508.2(NEB):c.8043C>A (p.Ala2681=)
|
rs2154114675
|
|
NM_001164508.2(NEB):c.8047C>A (p.Gln2683Lys)
|
rs2154114662
|
|
NM_001164508.2(NEB):c.8055G>A (p.Leu2685=)
|
|
|
NM_001164508.2(NEB):c.8056del (p.Ser2686fs)
|
|
|
NM_001164508.2(NEB):c.8064T>C (p.His2688=)
|
rs1057523363
|
|
NM_001164508.2(NEB):c.8068T>C (p.Tyr2690His)
|
|
|
NM_001164508.2(NEB):c.8070C>T (p.Tyr2690=)
|
|
|
NM_001164508.2(NEB):c.807C>A (p.Thr269=)
|
rs1430006856
|
|
NM_001164508.2(NEB):c.8082A>T (p.Pro2694=)
|
|
|
NM_001164508.2(NEB):c.8088A>G (p.Gln2696=)
|
|
|
NM_001164508.2(NEB):c.8090T>C (p.Phe2697Ser)
|
|
|
NM_001164508.2(NEB):c.8094G>A (p.Lys2698=)
|
|
|
NM_001164508.2(NEB):c.8101A>G (p.Ser2701Gly)
|
rs2098908042
|
|
NM_001164508.2(NEB):c.8103C>T (p.Ser2701=)
|
rs1257370102
|
|
NM_001164508.2(NEB):c.8106T>C (p.Leu2702=)
|
|
|
NM_001164508.2(NEB):c.8111A>C (p.Asp2704Ala)
|
rs2098907855
|
|
NM_001164508.2(NEB):c.8111A>T (p.Asp2704Val)
|
|
|
NM_001164508.2(NEB):c.8111_8112del (p.Asp2704fs)
|
|
|
NM_001164508.2(NEB):c.8121A>G (p.Pro2707=)
|
rs1574917544
|
|
NM_001164508.2(NEB):c.8126T>G (p.Val2709Gly)
|
|
|
NM_001164508.2(NEB):c.8128T>C (p.Leu2710=)
|
rs2098907461
|
|
NM_001164508.2(NEB):c.8146A>G (p.Ile2716Val)
|
rs1574917037
|
|
NM_001164508.2(NEB):c.814G>A (p.Val272Met)
|
|
|
NM_001164508.2(NEB):c.8151C>T (p.Thr2717=)
|
rs2154114447
|
|
NM_001164508.2(NEB):c.8159A>C (p.His2720Pro)
|
|
|
NM_001164508.2(NEB):c.8160+10A>G
|
rs2154114405
|
|
NM_001164508.2(NEB):c.8160+16G>T
|
|
|
NM_001164508.2(NEB):c.8160+17_8160+20del
|
|
|
NM_001164508.2(NEB):c.8160+19T>G
|
|
|
NM_001164508.2(NEB):c.8160+20G>C
|
|
|
NM_001164508.2(NEB):c.8160+7C>A
|
|
|
NM_001164508.2(NEB):c.8161-11G>A
|
|
|
NM_001164508.2(NEB):c.8161-20T>A
|
|
|
NM_001164508.2(NEB):c.8161-4T>G
|
|
|
NM_001164508.2(NEB):c.8161-6dup
|
|
|
NM_001164508.2(NEB):c.8161C>A (p.Arg2721Ser)
|
|
|
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys)
|
rs570763682
|
|
NM_001164508.2(NEB):c.8163C>T (p.Arg2721=)
|
rs1574905085
|
|
NM_001164508.2(NEB):c.816G>T (p.Val272=)
|
|
|
NM_001164508.2(NEB):c.8171C>T (p.Thr2724Ile)
|
|
|
NM_001164508.2(NEB):c.8187A>G (p.Lys2729=)
|
rs1466641302
|
|
NM_001164508.2(NEB):c.818G>A (p.Ser273Asn)
|
|
|
NM_001164508.2(NEB):c.8190T>A (p.Asp2730Glu)
|
|
|
NM_001164508.2(NEB):c.8200G>C (p.Val2734Leu)
|
|
|
NM_001164508.2(NEB):c.8203C>G (p.His2735Asp)
|
rs759848500
|
|
NM_001164508.2(NEB):c.820A>G (p.Lys274Glu)
|
|
|
NM_001164508.2(NEB):c.8213C>T (p.Pro2738Leu)
|
|
|
NM_001164508.2(NEB):c.8217T>C (p.Asp2739=)
|
rs568197703
|
|
NM_001164508.2(NEB):c.8219C>A (p.Thr2740Asn)
|
|
|
NM_001164508.2(NEB):c.8219C>T (p.Thr2740Ile)
|
rs763429938
|
|
NM_001164508.2(NEB):c.822+13A>G
|
rs1057523586
|
|
NM_001164508.2(NEB):c.822+1G>A
|
rs2099762097
|
|
NM_001164508.2(NEB):c.822+7A>G
|
rs2099762082
|
|
NM_001164508.2(NEB):c.822+8A>G
|
rs2150347724
|
|
NM_001164508.2(NEB):c.8221C>T (p.Pro2741Ser)
|
|
|
NM_001164508.2(NEB):c.823-11C>A
|
|
|
NM_001164508.2(NEB):c.823-11C>T
|
|
|
NM_001164508.2(NEB):c.823-2A>G
|
rs1553642811
|
|
NM_001164508.2(NEB):c.823-5dup
|
|
|
NM_001164508.2(NEB):c.8232A>G (p.Leu2744=)
|
|
|
NM_001164508.2(NEB):c.8233_8234del (p.Leu2745fs)
|
|
|
NM_001164508.2(NEB):c.8234T>G (p.Leu2745Ter)
|
|
|
NM_001164508.2(NEB):c.8239A>T (p.Lys2747Ter)
|
|
|
NM_001164508.2(NEB):c.8240_8241del (p.Lys2747fs)
|
|
|
NM_001164508.2(NEB):c.8247C>T (p.Asn2749=)
|
rs1424462476
|
|
NM_001164508.2(NEB):c.8251G>A (p.Val2751Ile)
|
|
|
NM_001164508.2(NEB):c.8265+11T>C
|
|
|
NM_001164508.2(NEB):c.8265+13T>G
|
|
|
NM_001164508.2(NEB):c.8265+18A>G
|
|
|
NM_001164508.2(NEB):c.8265+1G>A
|
rs1131691547
|
|
NM_001164508.2(NEB):c.8265+1G>T
|
|
|
NM_001164508.2(NEB):c.8266-12T>C
|
|
|
NM_001164508.2(NEB):c.8266-14A>G
|
|
|
NM_001164508.2(NEB):c.8266-15T>C
|
|
|
NM_001164508.2(NEB):c.8266-17A>C
|
|
|
NM_001164508.2(NEB):c.8266-17A>G
|
|
|
NM_001164508.2(NEB):c.8266-18T>C
|
|
|
NM_001164508.2(NEB):c.8266-19C>T
|
|
|
NM_001164508.2(NEB):c.8269T>C (p.Leu2757=)
|
|
|
NM_001164508.2(NEB):c.8269_8270dup (p.Leu2757fs)
|
rs2154113080
|
|
NM_001164508.2(NEB):c.8271G>A (p.Leu2757=)
|
rs1574897876
|
|
NM_001164508.2(NEB):c.8277G>A (p.Lys2759=)
|
rs751972598
|
|
NM_001164508.2(NEB):c.8281G>A (p.Gly2761Ser)
|
|
|
NM_001164508.2(NEB):c.8283C>G (p.Gly2761=)
|
|
|
NM_001164508.2(NEB):c.8283C>T (p.Gly2761=)
|
rs763584465
|
|
NM_001164508.2(NEB):c.8286A>G (p.Leu2762=)
|
rs1485633105
|
|
NM_001164508.2(NEB):c.8293G>A (p.Ala2765Thr)
|
|
|
NM_001164508.2(NEB):c.8295C>T (p.Ala2765=)
|
rs2154113022
|
|
NM_001164508.2(NEB):c.8298G>A (p.Lys2766=)
|
|
|
NM_001164508.2(NEB):c.8301G>A (p.Arg2767=)
|
|
|
NM_001164508.2(NEB):c.8304A>G (p.Lys2768=)
|
|
|
NM_001164508.2(NEB):c.8305G>A (p.Gly2769Ser)
|
|
|
NM_001164508.2(NEB):c.8306G>T (p.Gly2769Val)
|
rs762272453
|
|
NM_001164508.2(NEB):c.8313C>T (p.Asp2771=)
|
|
|
NM_001164508.2(NEB):c.8315T>G (p.Met2772Arg)
|
rs1574896797
|
|
NM_001164508.2(NEB):c.8317C>A (p.Arg2773=)
|
rs776175154
|
|
NM_001164508.2(NEB):c.8326G>C (p.Ala2776Pro)
|
rs2098890629
|
|
NM_001164508.2(NEB):c.8331T>A (p.Ile2777=)
|
rs2154112958
|
|
NM_001164508.2(NEB):c.8333C>T (p.Pro2778Leu)
|
rs2154112954
|
|
NM_001164508.2(NEB):c.8335A>T (p.Ile2779Phe)
|
rs114853127
|
|
NM_001164508.2(NEB):c.8341G>T (p.Ala2781Ser)
|
rs1160244999
|
|
NM_001164508.2(NEB):c.8344_8345delinsTT (p.Ala2782Phe)
|
|
|
NM_001164508.2(NEB):c.834A>G (p.Lys278=)
|
rs2150051403
|
|
NM_001164508.2(NEB):c.834AGA[1] (p.Glu279del)
|
rs1553642771
|
|
NM_001164508.2(NEB):c.8350G>A (p.Ala2784Thr)
|
|
|
NM_001164508.2(NEB):c.8352C>T (p.Ala2784=)
|
|
|
NM_001164508.2(NEB):c.8353T>C (p.Ser2785Pro)
|
rs398124173
|
|
NM_001164508.2(NEB):c.8358A>G (p.Arg2786=)
|
|
|
NM_001164508.2(NEB):c.8359G>A (p.Asp2787Asn)
|
|
|
NM_001164508.2(NEB):c.8364T>A (p.Ile2788=)
|
|
|
NM_001164508.2(NEB):c.8373+15A>G
|
|
|
NM_001164508.2(NEB):c.8373+16A>C
|
|
|
NM_001164508.2(NEB):c.8373+16A>G
|
|
|
NM_001164508.2(NEB):c.8373+1G>A
|
rs2154112865
|
|
NM_001164508.2(NEB):c.8373+7A>G
|
rs2154112849
|
|
NM_001164508.2(NEB):c.8373+8T>C
|
|
|
NM_001164508.2(NEB):c.8374-10C>A
|
|
|
NM_001164508.2(NEB):c.8374-1G>A
|
rs1180407562
|
|
NM_001164508.2(NEB):c.8374-20C>T
|
|
|
NM_001164508.2(NEB):c.8374-22_8374-19del
|
|
|
NM_001164508.2(NEB):c.8374-3T>C
|
rs2154105691
|
|
NM_001164508.2(NEB):c.8379G>A (p.Lys2793=)
|
|
|
NM_001164508.2(NEB):c.8383A>G (p.Lys2795Glu)
|
|
|
NM_001164508.2(NEB):c.8386G>A (p.Glu2796Lys)
|
|
|
NM_001164508.2(NEB):c.8386del (p.Glu2796fs)
|
rs2154105644
|
|
NM_001164508.2(NEB):c.8387A>G (p.Glu2796Gly)
|
|
|
NM_001164508.2(NEB):c.8392_8395dup (p.Arg2799fs)
|
rs765403861
|
|
NM_001164508.2(NEB):c.8395C>G (p.Arg2799Gly)
|
rs779321118
|
|
NM_001164508.2(NEB):c.8395C>T (p.Arg2799Cys)
|
|
|
NM_001164508.2(NEB):c.8398A>G (p.Lys2800Glu)
|
|
|
NM_001164508.2(NEB):c.840C>T (p.Asp280=)
|
rs953526249
|
|
NM_001164508.2(NEB):c.8415C>T (p.His2805=)
|
|
|
NM_001164508.2(NEB):c.8418T>C (p.Ile2806=)
|
rs2154105525
|
|
NM_001164508.2(NEB):c.8422G>T (p.Ala2808Ser)
|
|
|
NM_001164508.2(NEB):c.8425C>A (p.Arg2809=)
|
|
|
NM_001164508.2(NEB):c.8425del (p.Arg2809fs)
|
rs1574820458
|
|
NM_001164508.2(NEB):c.8433A>T (p.Ile2811=)
|
|
|
NM_001164508.2(NEB):c.8434C>A (p.Arg2812Ser)
|
rs747131655
|
|
NM_001164508.2(NEB):c.8435G>A (p.Arg2812His)
|
|
|
NM_001164508.2(NEB):c.8436T>A (p.Arg2812=)
|
|
|
NM_001164508.2(NEB):c.8458_8459del (p.Ser2820fs)
|
rs776982138
|
|
NM_001164508.2(NEB):c.8460C>T (p.Ser2820=)
|
|
|
NM_001164508.2(NEB):c.8461A>G (p.Met2821Val)
|
rs2098834032
|
|
NM_001164508.2(NEB):c.8469G>A (p.Val2823=)
|
rs1574818802
|
|
NM_001164508.2(NEB):c.8485G>A (p.Asp2829Asn)
|
|
|
NM_001164508.2(NEB):c.8493G>T (p.Glu2831Asp)
|
rs2098833761
|
|
NM_001164508.2(NEB):c.8497AAG[1] (p.Lys2834del)
|
rs764523437
|
|
NM_001164508.2(NEB):c.8498A>G (p.Lys2833Arg)
|
|
|
NM_001164508.2(NEB):c.8502G>A (p.Lys2834=)
|
|
|
NM_001164508.2(NEB):c.8505C>T (p.Asp2835=)
|
rs2154105283
|
|
NM_001164508.2(NEB):c.8508T>C (p.Phe2836=)
|
|
|
NM_001164508.2(NEB):c.8515T>A (p.Trp2839Arg)
|
|
|
NM_001164508.2(NEB):c.8530A>T (p.Ser2844Cys)
|
|
|
NM_001164508.2(NEB):c.8541G>A (p.Val2847=)
|
rs2098833367
|
|
NM_001164508.2(NEB):c.8545_8546dup (p.Met2849fs)
|
|
|
NM_001164508.2(NEB):c.8547G>C (p.Met2849Ile)
|
rs2098833299
|
|
NM_001164508.2(NEB):c.8550G>T (p.Leu2850=)
|
|
|
NM_001164508.2(NEB):c.8554G>T (p.Val2852Leu)
|
rs1256097684
|
|
NM_001164508.2(NEB):c.8554del (p.Val2852fs)
|
|
|
NM_001164508.2(NEB):c.8559G>A (p.Val2853=)
|
|
|
NM_001164508.2(NEB):c.855_856insGCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATAAAATC (p.Lys286delinsAlaArgLeuProLeuProLeuProSerProSerProValSerLeuSerLeuSerArgLeuXaaXaaXaaXaaLysLysLysLysLysLysArgLysTer)
|
|
|
NM_001164508.2(NEB):c.8560C>T (p.Leu2854=)
|
rs772120513
|
|
NM_001164508.2(NEB):c.8569A>T (p.Lys2857Ter)
|
|
|
NM_001164508.2(NEB):c.8577G>A (p.Gln2859=)
|
rs2154105100
|
|
NM_001164508.2(NEB):c.8584G>T (p.Val2862Phe)
|
rs949616238
|
|
NM_001164508.2(NEB):c.8585_8588del (p.Val2862fs)
|
|
|
NM_001164508.2(NEB):c.8586C>T (p.Val2862=)
|
|
|
NM_001164508.2(NEB):c.858del (p.Gly287fs)
|
|
|
NM_001164508.2(NEB):c.8590G>T (p.Asp2864Tyr)
|
|
|
NM_001164508.2(NEB):c.8595G>A (p.Val2865=)
|
rs1296412908
|
|
NM_001164508.2(NEB):c.8597A>G (p.Asp2866Gly)
|
rs370002964
|
|
NM_001164508.2(NEB):c.8598C>G (p.Asp2866Glu)
|
rs1553966356
|
|
NM_001164508.2(NEB):c.8599T>C (p.Tyr2867His)
|
|
|
NM_001164508.2(NEB):c.85A>G (p.Thr29Ala)
|
|
|
NM_001164508.2(NEB):c.8609A>G (p.Tyr2870Cys)
|
|
|
NM_001164508.2(NEB):c.8610C>T (p.Tyr2870=)
|
rs1574814350
|
|
NM_001164508.2(NEB):c.8615A>G (p.His2872Arg)
|
rs2098832647
|
|
NM_001164508.2(NEB):c.8617C>A (p.Gln2873Lys)
|
|
|
NM_001164508.2(NEB):c.8619G>A (p.Gln2873=)
|
rs750274374
|
|
NM_001164508.2(NEB):c.861C>A (p.Gly287=)
|
|
|
NM_001164508.2(NEB):c.8620T>A (p.Trp2874Arg)
|
rs2154104967
|
|
NM_001164508.2(NEB):c.8628C>T (p.Cys2876=)
|
rs375721498
|
|
NM_001164508.2(NEB):c.8631G>A (p.Leu2877=)
|
rs1190853165
|
|
NM_001164508.2(NEB):c.8638C>T (p.Gln2880Ter)
|
|
|
NM_001164508.2(NEB):c.8648T>C (p.Val2883Ala)
|
rs2098832346
|
|
NM_001164508.2(NEB):c.864A>G (p.Lys288=)
|
rs2150050846
|
|
NM_001164508.2(NEB):c.8652C>A (p.Ile2884=)
|
rs1488080807
|
|
NM_001164508.2(NEB):c.8652C>T (p.Ile2884=)
|
|
|
NM_001164508.2(NEB):c.8659C>T (p.Arg2887Trp)
|
rs748618562
|
|
NM_001164508.2(NEB):c.8660G>A (p.Arg2887Gln)
|
rs781688981
|
|
NM_001164508.2(NEB):c.8666C>G (p.Ala2889Gly)
|
|
|
NM_001164508.2(NEB):c.8668T>G (p.Tyr2890Asp)
|
|
|
NM_001164508.2(NEB):c.8680A>C (p.Ser2894Arg)
|
|
|
NM_001164508.2(NEB):c.8681G>A (p.Ser2894Asn)
|
rs1420993227
|
|
NM_001164508.2(NEB):c.8682C>A (p.Ser2894Arg)
|
rs373799650
|
|
NM_001164508.2(NEB):c.8682C>T (p.Ser2894=)
|
rs373799650
|
|
NM_001164508.2(NEB):c.8685+13A>G
|
rs2154104712
|
|
NM_001164508.2(NEB):c.8685+14G>A
|
|
|
NM_001164508.2(NEB):c.8685+17A>G
|
|
|
NM_001164508.2(NEB):c.8685+18T>C
|
|
|
NM_001164508.2(NEB):c.8685+19A>G
|
|
|
NM_001164508.2(NEB):c.8685+3G>A
|
|
|
NM_001164508.2(NEB):c.8685+8C>G
|
|
|
NM_001164508.2(NEB):c.8686-10G>C
|
rs769262070
|
|
NM_001164508.2(NEB):c.8686-14A>G
|
|
|
NM_001164508.2(NEB):c.8686-16C>T
|
|
|
NM_001164508.2(NEB):c.8686-17del
|
|
|
NM_001164508.2(NEB):c.8686-2A>G
|
|
|
NM_001164508.2(NEB):c.8686-3C>T
|
rs2098827787
|
|
NM_001164508.2(NEB):c.8686-8G>A
|
|
|
NM_001164508.2(NEB):c.8693A>G (p.Tyr2898Cys)
|
|
|
NM_001164508.2(NEB):c.8697del (p.Lys2899fs)
|
|
|
NM_001164508.2(NEB):c.8700T>C (p.Ser2900=)
|
rs774631406
|
|
NM_001164508.2(NEB):c.8709G>A (p.Gln2903=)
|
|
|
NM_001164508.2(NEB):c.870T>C (p.Ser290=)
|
|
|
NM_001164508.2(NEB):c.870_873del (p.Ser290fs)
|
rs2150050727
|
|
NM_001164508.2(NEB):c.8717G>C (p.Arg2906Thr)
|
rs2154103510
|
|
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser)
|
rs753718572
|
|
NM_001164508.2(NEB):c.8722A>C (p.Ile2908Leu)
|
|
|
NM_001164508.2(NEB):c.8722A>T (p.Ile2908Phe)
|
|
|
NM_001164508.2(NEB):c.8726G>C (p.Gly2909Ala)
|
|
|
NM_001164508.2(NEB):c.8727C>T (p.Gly2909=)
|
|
|
NM_001164508.2(NEB):c.8729G>A (p.Trp2910Ter)
|
|
|
NM_001164508.2(NEB):c.8732T>G (p.Val2911Gly)
|
|
|
NM_001164508.2(NEB):c.8733_8734inv (p.Ser2912Pro)
|
|
|
NM_001164508.2(NEB):c.8739T>C (p.Ile2913=)
|
|
|
NM_001164508.2(NEB):c.8742C>T (p.Gly2914=)
|
rs1455295349
|
|
NM_001164508.2(NEB):c.8749G>T (p.Asp2917Tyr)
|
|
|
NM_001164508.2(NEB):c.8750_8751insGCAGCAG (p.Asp2917fs)
|
|
|
NM_001164508.2(NEB):c.8753T>G (p.Val2918Gly)
|
rs2098827193
|
|
NM_001164508.2(NEB):c.8760A>G (p.Lys2920=)
|
rs2154103360
|
|
NM_001164508.2(NEB):c.8767A>C (p.Arg2923=)
|
rs2154103341
|
|
NM_001164508.2(NEB):c.8772A>C (p.Ala2924=)
|
rs2154103315
|
|
NM_001164508.2(NEB):c.8772A>G (p.Ala2924=)
|
rs2154103315
|
|
NM_001164508.2(NEB):c.8789A>G (p.Asp2930Gly)
|
rs979095688
|
|
NM_001164508.2(NEB):c.8790T>G (p.Asp2930Glu)
|
|
|
NM_001164508.2(NEB):c.8793A>C (p.Lys2931Asn)
|
rs764708311
|
|
NM_001164508.2(NEB):c.8794A>G (p.Ile2932Val)
|
rs2098826922
|
|
NM_001164508.2(NEB):c.8796C>A (p.Ile2932=)
|
rs886054943
|
|
NM_001164508.2(NEB):c.8803C>T (p.Gln2935Ter)
|
rs1351747266
|
|
NM_001164508.2(NEB):c.8808T>G (p.Pro2936=)
|
rs2154103180
|
|
NM_001164508.2(NEB):c.8829C>T (p.Thr2943=)
|
rs2154103123
|
|
NM_001164508.2(NEB):c.8831G>A (p.Ser2944Asn)
|
|
|
NM_001164508.2(NEB):c.8834_8835del (p.Val2945fs)
|
|
|
NM_001164508.2(NEB):c.8841C>T (p.Asp2947=)
|
|
|
NM_001164508.2(NEB):c.8844T>C (p.Ser2948=)
|
|
|
NM_001164508.2(NEB):c.8845C>T (p.Leu2949=)
|
|
|
NM_001164508.2(NEB):c.8851C>G (p.Gln2951Glu)
|
rs2154103068
|
|
NM_001164508.2(NEB):c.8856G>A (p.Val2952=)
|
rs1180108686
|
|
NM_001164508.2(NEB):c.8858T>C (p.Leu2953Ser)
|
|
|
NM_001164508.2(NEB):c.8860del (p.Ala2954fs)
|
rs1553964158
|
|
NM_001164508.2(NEB):c.8876T>A (p.Ile2959Asn)
|
rs1228319024
|
|
NM_001164508.2(NEB):c.8879C>T (p.Thr2960Ile)
|
|
|
NM_001164508.2(NEB):c.8880_8882del (p.Met2961del)
|
rs1553964000
|
|
NM_001164508.2(NEB):c.8881A>G (p.Met2961Val)
|
|
|
NM_001164508.2(NEB):c.8887A>T (p.Lys2963Ter)
|
rs1553963973
|
|
NM_001164508.2(NEB):c.8889+14A>C
|
|
|
NM_001164508.2(NEB):c.8889+18A>G
|
|
|
NM_001164508.2(NEB):c.8889+1G>A
|
rs1553963960
|
|
NM_001164508.2(NEB):c.8889+20A>G
|
|
|
NM_001164508.2(NEB):c.8889+9T>C
|
|
|
NM_001164508.2(NEB):c.8890-14A>G
|
|
|
NM_001164508.2(NEB):c.8890-16G>A
|
|
|
NM_001164508.2(NEB):c.8890-18G>A
|
|
|
NM_001164508.2(NEB):c.8890-1G>A
|
|
|
NM_001164508.2(NEB):c.8890-6del
|
rs771652505
|
|
NM_001164508.2(NEB):c.8890-6dup
|
|
|
NM_001164508.2(NEB):c.8890-7T>C
|
|
|
NM_001164508.2(NEB):c.8891G>A (p.Arg2964His)
|
|
|
NM_001164508.2(NEB):c.8895A>G (p.Leu2965=)
|
|
|
NM_001164508.2(NEB):c.8897A>G (p.Tyr2966Cys)
|
rs1560822452
|
|
NM_001164508.2(NEB):c.8901A>G (p.Thr2967=)
|
|
|
NM_001164508.2(NEB):c.8907C>T (p.Ala2969=)
|
|
|
NM_001164508.2(NEB):c.8910G>A (p.Trp2970Ter)
|
|
|
NM_001164508.2(NEB):c.8918A>C (p.Asp2973Ala)
|
|
|
NM_001164508.2(NEB):c.8922G>A (p.Lys2974=)
|
|
|
NM_001164508.2(NEB):c.8946C>T (p.Asp2982=)
|
rs2154100963
|
|
NM_001164508.2(NEB):c.8952A>G (p.Pro2984=)
|
rs2154100946
|
|
NM_001164508.2(NEB):c.8970A>G (p.Arg2990=)
|
rs2154100920
|
|
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg)
|
rs539367087
|
|
NM_001164508.2(NEB):c.8982C>G (p.Ile2994Met)
|
rs1251791997
|
|
NM_001164508.2(NEB):c.8994+11A>G
|
|
|
NM_001164508.2(NEB):c.8994+16T>C
|
|
|
NM_001164508.2(NEB):c.8994+16_8994+17del
|
rs745485126
|
|
NM_001164508.2(NEB):c.8994+17T>G
|
|
|
NM_001164508.2(NEB):c.8994+18G>A
|
|
|
NM_001164508.2(NEB):c.8994+19A>G
|
|
|
NM_001164508.2(NEB):c.8994+1G>A
|
rs2098817648
|
|
NM_001164508.2(NEB):c.8994+2T>C
|
rs1553962493
|
|
NM_001164508.2(NEB):c.8995-13C>T
|
|
|
NM_001164508.2(NEB):c.8995-14del
|
rs770495295
|
|
NM_001164508.2(NEB):c.8995-14dup
|
|
|
NM_001164508.2(NEB):c.8995-18T>C
|
|
|
NM_001164508.2(NEB):c.8995-1G>C
|
|
|
NM_001164508.2(NEB):c.8995-6A>C
|
rs2154090926
|
|
NM_001164508.2(NEB):c.8995-8A>C
|
|
|
NM_001164508.2(NEB):c.8995-9C>T
|
|
|
NM_001164508.2(NEB):c.8997T>A (p.Ser2999Arg)
|
rs2154090899
|
|
NM_001164508.2(NEB):c.9002A>G (p.Tyr3001Cys)
|
rs1574635522
|
|
NM_001164508.2(NEB):c.9009T>C (p.Leu3003=)
|
|
|
NM_001164508.2(NEB):c.900C>T (p.Ala300=)
|
rs778204122
|
|
NM_001164508.2(NEB):c.9015T>A (p.Asn3005Lys)
|
|
|
NM_001164508.2(NEB):c.9015T>C (p.Asn3005=)
|
rs576142462
|
|
NM_001164508.2(NEB):c.9019G>A (p.Glu3007Lys)
|
|
|
NM_001164508.2(NEB):c.9025A>C (p.Lys3009Gln)
|
|
|
NM_001164508.2(NEB):c.902_903delinsAT (p.Arg301Asn)
|
rs2099741678
|
|
NM_001164508.2(NEB):c.9039T>C (p.Tyr3013=)
|
|
|
NM_001164508.2(NEB):c.903A>T (p.Arg301Ser)
|
|
|
NM_001164508.2(NEB):c.9042C>T (p.Asp3014=)
|
rs1262229809
|
|
NM_001164508.2(NEB):c.9044T>C (p.Leu3015Ser)
|
rs573822094
|
|
NM_001164508.2(NEB):c.9046C>G (p.Arg3016Gly)
|
rs1057517977
|
|
NM_001164508.2(NEB):c.9048A>T (p.Arg3016=)
|
|
|
NM_001164508.2(NEB):c.904A>G (p.Met302Val)
|
rs755508128
|
|
NM_001164508.2(NEB):c.9052G>T (p.Asp3018Tyr)
|
|
|
NM_001164508.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del)
|
rs1165631470
|
|
NM_001164508.2(NEB):c.9054C>T (p.Asp3018=)
|
rs748395516
|
|
NM_001164508.2(NEB):c.9056C>T (p.Ala3019Val)
|
rs1394119778
|
|
NM_001164508.2(NEB):c.9057C>G (p.Ala3019=)
|
rs1411759598
|
|
NM_001164508.2(NEB):c.906G>A (p.Met302Ile)
|
|
|
NM_001164508.2(NEB):c.9077A>G (p.Lys3026Arg)
|
|
|
NM_001164508.2(NEB):c.9081C>T (p.Ala3027=)
|
rs2154090635
|
|
NM_001164508.2(NEB):c.9102+12A>G
|
|
|
NM_001164508.2(NEB):c.9102+1G>A
|
rs143644938
|
|
NM_001164508.2(NEB):c.9102C>A (p.Asp3034Glu)
|
|
|
NM_001164508.2(NEB):c.9103-18T>C
|
|
|
NM_001164508.2(NEB):c.9103-4_9103-3del
|
rs749056839
|
|
NM_001164508.2(NEB):c.9103-6T>C
|
|
|
NM_001164508.2(NEB):c.9108A>T (p.Lys3036Asn)
|
|
|
NM_001164508.2(NEB):c.9108del (p.Lys3036fs)
|
rs1553948395
|
|
NM_001164508.2(NEB):c.9114A>G (p.Lys3038=)
|
rs1260779517
|
|
NM_001164508.2(NEB):c.9117T>C (p.Asp3039=)
|
rs2154081439
|
|
NM_001164508.2(NEB):c.9118G>A (p.Gly3040Ser)
|
rs758739517
|
|
NM_001164508.2(NEB):c.9120T>C (p.Gly3040=)
|
rs2098712581
|
|
NM_001164508.2(NEB):c.9123_9124delinsTC (p.Cys3042Arg)
|
rs1574530781
|
|
NM_001164508.2(NEB):c.9124_9125inv (p.Cys3042His)
|
|
|
NM_001164508.2(NEB):c.9138C>T (p.Gly3046=)
|
|
|
NM_001164508.2(NEB):c.9156G>A (p.Arg3052=)
|
rs2154081242
|
|
NM_001164508.2(NEB):c.915T>C (p.Asp305=)
|
|
|
NM_001164508.2(NEB):c.9174C>G (p.Pro3058=)
|
rs2154081222
|
|
NM_001164508.2(NEB):c.9176A>G (p.Lys3059Arg)
|
|
|
NM_001164508.2(NEB):c.9177G>A (p.Lys3059=)
|
rs2154081208
|
|
NM_001164508.2(NEB):c.9189C>T (p.Ser3063=)
|
rs2154081173
|
|
NM_001164508.2(NEB):c.9193C>T (p.His3065Tyr)
|
|
|
NM_001164508.2(NEB):c.9211_9218del (p.Ser3071fs)
|
|
|
NM_001164508.2(NEB):c.9217_9218del (p.Arg3073fs)
|
rs1574526903
|
|
NM_001164508.2(NEB):c.9219G>A (p.Arg3073=)
|
|
|
NM_001164508.2(NEB):c.9225C>G (p.Tyr3075Ter)
|
|
|
NM_001164508.2(NEB):c.9234C>T (p.Asp3078=)
|
rs1401025895
|
|
NM_001164508.2(NEB):c.9246G>A (p.Trp3082Ter)
|
rs1553947423
|
|
NM_001164508.2(NEB):c.9249G>A (p.Lys3083=)
|
rs2154081052
|
|
NM_001164508.2(NEB):c.9258C>T (p.Phe3086=)
|
rs2154081043
|
|
NM_001164508.2(NEB):c.927+14G>A
|
rs1577279380
|
|
NM_001164508.2(NEB):c.927+16A>T
|
|
|
NM_001164508.2(NEB):c.927+1G>A
|
rs374562457
|
|
NM_001164508.2(NEB):c.927+7T>C
|
rs746940000
|
|
NM_001164508.2(NEB):c.927+9G>C
|
rs1327165167
|
|
NM_001164508.2(NEB):c.927+9G>T
|
|
|
NM_001164508.2(NEB):c.9278T>C (p.Leu3093Pro)
|
rs2098711068
|
|
NM_001164508.2(NEB):c.9279G>A (p.Leu3093=)
|
rs2154080991
|
|
NM_001164508.2(NEB):c.928-10T>C
|
rs886038454
|
|
NM_001164508.2(NEB):c.928-12G>A
|
|
|
NM_001164508.2(NEB):c.9281G>C (p.Gly3094Ala)
|
rs896120572
|
|
NM_001164508.2(NEB):c.9283dup (p.Val3095fs)
|
|
|
NM_001164508.2(NEB):c.9284del (p.Val3095fs)
|
|
|
NM_001164508.2(NEB):c.9296A>G (p.Lys3099Arg)
|
|
|
NM_001164508.2(NEB):c.9309C>T (p.Thr3103=)
|
|
|
NM_001164508.2(NEB):c.9315C>T (p.Val3105=)
|
rs371174518
|
|
NM_001164508.2(NEB):c.931A>T (p.Lys311Ter)
|
|
|
NM_001164508.2(NEB):c.9324G>C (p.Val3108=)
|
rs1376979181
|
|
NM_001164508.2(NEB):c.9336C>G (p.Asn3112Lys)
|
|
|
NM_001164508.2(NEB):c.9339C>T (p.Tyr3113=)
|
rs2154080863
|
|
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys)
|
rs193042896
|
|
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter)
|
rs193042896
|
|
NM_001164508.2(NEB):c.9348G>A (p.Glu3116=)
|
|
|
NM_001164508.2(NEB):c.934del (p.Tyr312fs)
|
rs2150020225
|
|
NM_001164508.2(NEB):c.9351G>T (p.Trp3117Cys)
|
|
|
NM_001164508.2(NEB):c.9363T>G (p.Pro3121=)
|
rs6709886
|
|
NM_001164508.2(NEB):c.9365A>G (p.Asp3122Gly)
|
rs2154080790
|
|
NM_001164508.2(NEB):c.9371G>A (p.Ser3124Asn)
|
|
|
NM_001164508.2(NEB):c.9374A>G (p.Asp3125Gly)
|
|
|
NM_001164508.2(NEB):c.9378C>T (p.Val3126=)
|
|
|
NM_001164508.2(NEB):c.937C>T (p.Gln313Ter)
|
rs1577253760
|
|
NM_001164508.2(NEB):c.9383A>G (p.His3128Arg)
|
rs1460535254
|
|
NM_001164508.2(NEB):c.9389G>A (p.Arg3130Gln)
|
|
|
NM_001164508.2(NEB):c.938A>G (p.Gln313Arg)
|
rs1559506055
|
|
NM_001164508.2(NEB):c.9396del (p.Tyr3133fs)
|
|
|
NM_001164508.2(NEB):c.9398A>G (p.Tyr3133Cys)
|
|
|
NM_001164508.2(NEB):c.9402C>T (p.Asp3134=)
|
rs1447677348
|
|
NM_001164508.2(NEB):c.9407A>G (p.Gln3136Arg)
|
|
|
NM_001164508.2(NEB):c.940G>A (p.Glu314Lys)
|
|
|
NM_001164508.2(NEB):c.9414+16A>G
|
|
|
NM_001164508.2(NEB):c.9414+18A>G
|
|
|
NM_001164508.2(NEB):c.9414+19A>G
|
|
|
NM_001164508.2(NEB):c.9414+1G>A
|
rs1255445731
|
|
NM_001164508.2(NEB):c.9414+5G>A
|
rs2154080637
|
|
NM_001164508.2(NEB):c.9414+8C>T
|
rs1013796433
|
|
NM_001164508.2(NEB):c.9414+9A>G
|
rs2154080604
|
|
NM_001164508.2(NEB):c.9415-10C>G
|
rs1483729053
|
|
NM_001164508.2(NEB):c.9415-10C>T
|
|
|
NM_001164508.2(NEB):c.9415-12del
|
|
|
NM_001164508.2(NEB):c.9415-1G>A
|
|
|
NM_001164508.2(NEB):c.9415-20G>T
|
|
|
NM_001164508.2(NEB):c.9415-6G>C
|
rs2154073663
|
|
NM_001164508.2(NEB):c.9415-7T>C
|
rs2154073671
|
|
NM_001164508.2(NEB):c.9415-8C>T
|
rs762399109
|
|
NM_001164508.2(NEB):c.9415-9T>A
|
|
|
NM_001164508.2(NEB):c.9426G>A (p.Lys3142=)
|
|
|
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter)
|
rs1553939806
|
|
NM_001164508.2(NEB):c.9429A>G (p.Ser3143=)
|
|
|
NM_001164508.2(NEB):c.9435C>G (p.Leu3145=)
|
rs1401272162
|
|
NM_001164508.2(NEB):c.9439T>G (p.Trp3147Gly)
|
rs2098662413
|
|
NM_001164508.2(NEB):c.943G>T (p.Asp315Tyr)
|
|
|
NM_001164508.2(NEB):c.9440G>A (p.Trp3147Ter)
|
rs1553939774
|
|
NM_001164508.2(NEB):c.9444G>A (p.Leu3148=)
|
|
|
NM_001164508.2(NEB):c.9448G>A (p.Gly3150Ser)
|
|
|
NM_001164508.2(NEB):c.9450C>A (p.Gly3150=)
|
|
|
NM_001164508.2(NEB):c.9457dup (p.Trp3153fs)
|
rs1553939660
|
|
NM_001164508.2(NEB):c.9459G>A (p.Trp3153Ter)
|
rs1553939648
|
|
NM_001164508.2(NEB):c.9462C>A (p.Val3154=)
|
rs756951979
|
|
NM_001164508.2(NEB):c.9463C>A (p.Pro3155Thr)
|
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001164508.2(NEB):c.9466A>T (p.Ile3156Phe)
|
rs749280613
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|
NM_001164508.2(NEB):c.9467T>C (p.Ile3156Thr)
|
rs145770770
|
|
NM_001164508.2(NEB):c.946T>C (p.Phe316Leu)
|
rs2150019628
|
|
NM_001164508.2(NEB):c.9473C>T (p.Ser3158Phe)
|
|
|
NM_001164508.2(NEB):c.9476T>C (p.Met3159Thr)
|
|
|
NM_001164508.2(NEB):c.9479A>C (p.Asp3160Ala)
|
rs1574428058
|
|
NM_001164508.2(NEB):c.9481G>A (p.Val3161Met)
|
rs1560693635
|
|
NM_001164508.2(NEB):c.9485del (p.Val3162fs)
|
rs1553939284
|
|
NM_001164508.2(NEB):c.9488A>G (p.Lys3163Arg)
|
|
|
NM_001164508.2(NEB):c.9489G>A (p.Lys3163=)
|
rs867224544
|
|
NM_001164508.2(NEB):c.9490T>C (p.Cys3164Arg)
|
rs1292713138
|
|
NM_001164508.2(NEB):c.9494A>G (p.Lys3165Arg)
|
rs771512413
|
|
NM_001164508.2(NEB):c.9503C>T (p.Thr3168Ile)
|
rs2098661076
|
|
NM_001164508.2(NEB):c.9508dup (p.Ile3170fs)
|
|
|
NM_001164508.2(NEB):c.9510A>T (p.Ile3170=)
|
|
|
NM_001164508.2(NEB):c.9516T>C (p.Ser3172=)
|
rs1350595610
|
|
NM_001164508.2(NEB):c.9528C>A (p.Tyr3176Ter)
|
|
|
NM_001164508.2(NEB):c.9528C>T (p.Tyr3176=)
|
rs2098660756
|
|
NM_001164508.2(NEB):c.9530G>A (p.Arg3177His)
|
|
|
NM_001164508.2(NEB):c.9531C>T (p.Arg3177=)
|
rs2154073226
|
|
NM_001164508.2(NEB):c.9532C>T (p.Gln3178Ter)
|
rs2154073221
|
|
NM_001164508.2(NEB):c.9534G>A (p.Gln3178=)
|
rs565924213
|
|
NM_001164508.2(NEB):c.9542A>C (p.Asp3181Ala)
|
rs767042929
|
|
NM_001164508.2(NEB):c.9542A>G (p.Asp3181Gly)
|
|
|
NM_001164508.2(NEB):c.954C>T (p.Asn318=)
|
rs1577253471
|
|
NM_001164508.2(NEB):c.9550A>G (p.Lys3184Glu)
|
|
|
NM_001164508.2(NEB):c.9551A>T (p.Lys3184Ile)
|
rs2154073147
|
|
NM_001164508.2(NEB):c.9552A>G (p.Lys3184=)
|
rs2154073140
|
|
NM_001164508.2(NEB):c.9556A>T (p.Thr3186Ser)
|
rs2154073125
|
|
NM_001164508.2(NEB):c.955A>G (p.Met319Val)
|
rs1269690979
|
|
NM_001164508.2(NEB):c.955A>T (p.Met319Leu)
|
|
|
NM_001164508.2(NEB):c.9561T>C (p.Ser3187=)
|
|
|
NM_001164508.2(NEB):c.9562G>A (p.Val3188Met)
|
|
|
NM_001164508.2(NEB):c.9564G>A (p.Val3188=)
|
|
|
NM_001164508.2(NEB):c.9576A>G (p.Leu3192=)
|
rs779042130
|
|
NM_001164508.2(NEB):c.9576del (p.Glu3193fs)
|
rs1553938571
|
|
NM_001164508.2(NEB):c.9579G>A (p.Glu3193=)
|
|
|
NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter)
|
rs2098659971
|
|
NM_001164508.2(NEB):c.9586C>G (p.Leu3196Val)
|
|
|
NM_001164508.2(NEB):c.9586C>T (p.Leu3196=)
|
|
|
NM_001164508.2(NEB):c.9587T>G (p.Leu3196Arg)
|
rs754001835
|
|
NM_001164508.2(NEB):c.9590C>T (p.Ala3197Val)
|
rs778131603
|
|
NM_001164508.2(NEB):c.9591C>G (p.Ala3197=)
|
|
|
NM_001164508.2(NEB):c.9600T>C (p.Asn3200=)
|
rs2098659656
|
|
NM_001164508.2(NEB):c.9600del (p.Asn3200fs)
|
rs2154072959
|
|
NM_001164508.2(NEB):c.9606C>G (p.Leu3202=)
|
rs1574423035
|
|
NM_001164508.2(NEB):c.9609C>T (p.Asn3203=)
|
rs1574422955
|
|
NM_001164508.2(NEB):c.9618+10A>C
|
|
|
NM_001164508.2(NEB):c.9618+12C>T
|
|
|
NM_001164508.2(NEB):c.9618+7C>A
|
rs760075915
|
|
NM_001164508.2(NEB):c.9618+7C>G
|
rs760075915
|
|
NM_001164508.2(NEB):c.9618+7C>T
|
|
|
NM_001164508.2(NEB):c.9618+9del
|
rs2154072862
|
|
NM_001164508.2(NEB):c.9619-10T>C
|
|
|
NM_001164508.2(NEB):c.9619-10T>G
|
|
|
NM_001164508.2(NEB):c.9619-13T>A
|
|
|
NM_001164508.2(NEB):c.9619-14A>T
|
|
|
NM_001164508.2(NEB):c.9619-16T>C
|
|
|
NM_001164508.2(NEB):c.9619-17C>T
|
|
|
NM_001164508.2(NEB):c.9619-1G>A
|
rs1390379576
|
|
NM_001164508.2(NEB):c.9619-4A>G
|
rs2154071809
|
|
NM_001164508.2(NEB):c.9619-8T>C
|
|
|
NM_001164508.2(NEB):c.9619C>A (p.Arg3207Ser)
|
rs200351671
|
|
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys)
|
rs200351671
|
|
NM_001164508.2(NEB):c.9620G>T (p.Arg3207Leu)
|
rs111841612
|
|
NM_001164508.2(NEB):c.9629C>T (p.Thr3210Ile)
|
|
|
NM_001164508.2(NEB):c.9630A>G (p.Thr3210=)
|
|
|
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys)
|
rs757944456
|
|
NM_001164508.2(NEB):c.9636C>T (p.Ala3212=)
|
|
|
NM_001164508.2(NEB):c.9638G>A (p.Trp3213Ter)
|
|
|
NM_001164508.2(NEB):c.9642C>G (p.Asp3214Glu)
|
|
|
NM_001164508.2(NEB):c.9642C>T (p.Asp3214=)
|
rs1157858933
|
|
NM_001164508.2(NEB):c.9643A>G (p.Lys3215Glu)
|
|
|
NM_001164508.2(NEB):c.9654T>C (p.Thr3218=)
|
rs1005013494
|
|
NM_001164508.2(NEB):c.9659T>G (p.Ile3220Ser)
|
rs2098651541
|
|
NM_001164508.2(NEB):c.9662del (p.His3221fs)
|
|
|
NM_001164508.2(NEB):c.9663C>A (p.His3221Gln)
|
|
|
NM_001164508.2(NEB):c.9663C>T (p.His3221=)
|
|
|
NM_001164508.2(NEB):c.9667del (p.Met3223fs)
|
|
|
NM_001164508.2(NEB):c.9679C>G (p.Pro3227Ala)
|
rs778571060
|
|
NM_001164508.2(NEB):c.9681A>G (p.Pro3227=)
|
|
|
NM_001164508.2(NEB):c.9684G>A (p.Glu3228=)
|
rs371740288
|
|
NM_001164508.2(NEB):c.968T>A (p.Ile323Asn)
|
|
|
NM_001164508.2(NEB):c.9690G>A (p.Met3230Ile)
|
|
|
NM_001164508.2(NEB):c.9691T>C (p.Leu3231=)
|
rs2154071655
|
|
NM_001164508.2(NEB):c.9693G>A (p.Leu3231=)
|
|
|
NM_001164508.2(NEB):c.9694G>A (p.Ala3232Thr)
|
rs1329330602
|
|
NM_001164508.2(NEB):c.9696A>C (p.Ala3232=)
|
rs1289650145
|
|
NM_001164508.2(NEB):c.9696A>G (p.Ala3232=)
|
|
|
NM_001164508.2(NEB):c.96T>C (p.Tyr32=)
|
rs1290845455
|
|
NM_001164508.2(NEB):c.9704A>G (p.Asn3235Ser)
|
|
|
NM_001164508.2(NEB):c.9711C>T (p.Ile3237=)
|
|
|
NM_001164508.2(NEB):c.9712A>G (p.Asn3238Asp)
|
|
|
NM_001164508.2(NEB):c.9713A>T (p.Asn3238Ile)
|
|
|
NM_001164508.2(NEB):c.9719G>C (p.Ser3240Thr)
|
|
|
NM_001164508.2(NEB):c.9721G>T (p.Glu3241Ter)
|
|
|
NM_001164508.2(NEB):c.9723+15C>A
|
|
|
NM_001164508.2(NEB):c.9723+15C>T
|
|
|
NM_001164508.2(NEB):c.9723+19G>A
|
|
|
NM_001164508.2(NEB):c.9723+1G>A
|
rs113803601
|
|
NM_001164508.2(NEB):c.9723+4G>A
|
rs577635321
|
|
NM_001164508.2(NEB):c.9723+8C>T
|
rs369038670
|
|
NM_001164508.2(NEB):c.9724-10C>G
|
rs2154068562
|
|
NM_001164508.2(NEB):c.9724-11T>C
|
|
|
NM_001164508.2(NEB):c.9724-13T>G
|
|
|
NM_001164508.2(NEB):c.9724-14C>G
|
|
|
NM_001164508.2(NEB):c.9724-16G>C
|
|
|
NM_001164508.2(NEB):c.9724-1G>A
|
rs1553934586
|
|
NM_001164508.2(NEB):c.9724-2A>G
|
rs1553934597
|
|
NM_001164508.2(NEB):c.9724-4A>G
|
rs1574361885
|
|
NM_001164508.2(NEB):c.9725C>G (p.Thr3242Ser)
|
|
|
NM_001164508.2(NEB):c.9726T>C (p.Thr3242=)
|
rs1574361511
|
|
NM_001164508.2(NEB):c.9726_9727insAT (p.Leu3243fs)
|
rs1553934562
|
|
NM_001164508.2(NEB):c.9729A>T (p.Leu3243=)
|
rs767498749
|
|
NM_001164508.2(NEB):c.9729_9731delinsCT (p.Tyr3244fs)
|
|
|
NM_001164508.2(NEB):c.9749A>C (p.Glu3250Ala)
|
|
|
NM_001164508.2(NEB):c.9751G>A (p.Ala3251Thr)
|
|
|
NM_001164508.2(NEB):c.9752C>A (p.Ala3251Glu)
|
|
|
NM_001164508.2(NEB):c.9754A>C (p.Lys3252Gln)
|
|
|
NM_001164508.2(NEB):c.9760A>C (p.Lys3254Gln)
|
|
|
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter)
|
rs1301228529
|
|
NM_001164508.2(NEB):c.9775_9776del (p.Arg3259fs)
|
|
|
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln)
|
rs200930670
|
|
NM_001164508.2(NEB):c.9784G>A (p.Ala3262Thr)
|
|
|
NM_001164508.2(NEB):c.9786C>T (p.Ala3262=)
|
|
|
NM_001164508.2(NEB):c.9790C>G (p.Pro3264Ala)
|
rs755708498
|
|
NM_001164508.2(NEB):c.9793A>C (p.Ile3265Leu)
|
|
|
NM_001164508.2(NEB):c.9808_9809delinsTCTTTATGTT (p.Ala3270fs)
|
|
|
NM_001164508.2(NEB):c.9812C>T (p.Ser3271Phe)
|
|
|
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg)
|
rs1553934027
|
|
NM_001164508.2(NEB):c.9824T>C (p.Ile3275Thr)
|
|
|
NM_001164508.2(NEB):c.9831+12C>T
|
|
|
NM_001164508.2(NEB):c.9831+1G>A
|
rs1553933986
|
|
NM_001164508.2(NEB):c.9831+20A>T
|
|
|
NM_001164508.2(NEB):c.9832-11C>A
|
|
|
NM_001164508.2(NEB):c.9832-11C>G
|
rs2154061851
|
|
NM_001164508.2(NEB):c.9832-11C>T
|
|
|
NM_001164508.2(NEB):c.9832-11del
|
|
|
NM_001164508.2(NEB):c.9832-14C>A
|
|
|
NM_001164508.2(NEB):c.9832-8T>C
|
|
|
NM_001164508.2(NEB):c.9836A>G (p.Lys3279Arg)
|
rs772766917
|
|
NM_001164508.2(NEB):c.9837A>G (p.Lys3279=)
|
|
|
NM_001164508.2(NEB):c.9840C>G (p.Tyr3280Ter)
|
rs766355387
|
|
NM_001164508.2(NEB):c.9840C>T (p.Tyr3280=)
|
|
|
NM_001164508.2(NEB):c.9843A>G (p.Lys3281=)
|
|
|
NM_001164508.2(NEB):c.9848G>T (p.Gly3283Val)
|
rs2098553051
|
|
NM_001164508.2(NEB):c.985G>A (p.Glu329Lys)
|
rs753638647
|
|
NM_001164508.2(NEB):c.985G>T (p.Glu329Ter)
|
|
|
NM_001164508.2(NEB):c.9861G>A (p.Gln3287=)
|
|
|
NM_001164508.2(NEB):c.9868C>T (p.His3290Tyr)
|
|
|
NM_001164508.2(NEB):c.9870C>T (p.His3290=)
|
|
|
NM_001164508.2(NEB):c.9871C>G (p.His3291Asp)
|
rs2154061498
|
|
NM_001164508.2(NEB):c.9879A>G (p.Gly3293=)
|
rs2098552565
|
|
NM_001164508.2(NEB):c.987A>G (p.Glu329=)
|
rs1407934295
|
|
NM_001164508.2(NEB):c.9882C>A (p.Ala3294=)
|
rs935195501
|
|
NM_001164508.2(NEB):c.9882C>T (p.Ala3294=)
|
|
|
NM_001164508.2(NEB):c.9885G>C (p.Arg3295=)
|
|
|
NM_001164508.2(NEB):c.9889A>G (p.Ile3297Val)
|
rs1245785481
|
|
NM_001164508.2(NEB):c.9891T>A (p.Ile3297=)
|
rs780867218
|
|
NM_001164508.2(NEB):c.9891T>C (p.Ile3297=)
|
rs780867218
|
|
NM_001164508.2(NEB):c.9894A>G (p.Glu3298=)
|
rs2154061297
|
|
NM_001164508.2(NEB):c.9897T>C (p.Asp3299=)
|
rs1574283326
|
|
NM_001164508.2(NEB):c.9917C>T (p.Ser3306Phe)
|
rs2154061189
|
|
NM_001164508.2(NEB):c.9919A>G (p.Met3307Val)
|
|
|
NM_001164508.2(NEB):c.9921G>A (p.Met3307Ile)
|
rs756185799
|
|
NM_001164508.2(NEB):c.9922C>T (p.His3308Tyr)
|
rs1369787156
|
|
NM_001164508.2(NEB):c.9925G>A (p.Val3309Met)
|
|
|
NM_001164508.2(NEB):c.9933G>A (p.Lys3311=)
|
rs2154061110
|
|
NM_001164508.2(NEB):c.9939G>A (p.Gln3313=)
|
rs767908602
|
|
NM_001164508.2(NEB):c.993A>G (p.Pro331=)
|
|
|
NM_001164508.2(NEB):c.9943del (p.Asp3315fs)
|
rs1553930053
|
|
NM_001164508.2(NEB):c.9947G>A (p.Arg3316Lys)
|
|
|
NM_001164508.2(NEB):c.9954T>G (p.Tyr3318Ter)
|
rs763541152
|
|
NM_001164508.2(NEB):c.9959A>T (p.Lys3320Met)
|
rs373285394
|
|
NM_001164508.2(NEB):c.9960G>C (p.Lys3320Asn)
|
|
|
NM_001164508.2(NEB):c.996G>A (p.Glu332=)
|
rs781706061
|
|
NM_001164508.2(NEB):c.9972G>T (p.Lys3324Asn)
|
rs747709979
|
|
NM_001164508.2(NEB):c.9978G>A (p.Lys3326=)
|
rs2098551583
|
|
NM_001164508.2(NEB):c.9984G>A (p.Lys3328=)
|
rs2154060927
|
|
NM_001164508.2(NEB):c.9996A>G (p.Pro3332=)
|
|
|
NM_001164508.2(NEB):c.999T>C (p.Tyr333=)
|
|
|
NM_001164508.2(NEB):c.99G>A (p.Glu33=)
|
rs1050135264
|
|
NM_001164508.2(NEB):c.9T>C (p.Asp3=)
|
|
|
NM_001271208.1(NEB):c.21103delG
|
rs1553686994
|
|
NM_001271208.1(NEB):c.21213_21218del
|
rs1553683577
|
|
NM_001271208.1(NEB):c.23940+17_23940+21del
|
rs768100915
|
|
NM_001271208.1(NEB):c.7291G>A
|
rs767302772
|
|
NM_001271208.1(NEB):c.7651_7656del6
|
rs1553983947
|
|
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]
|
|
|
NM_001271208.2(NEB):c.18696_18697insSVAelement
|
|
|
NM_004543.5(NEB):c.18826-1350_18826-1348dup
|
rs1553552449
|
|