NM_000130.5(F5):c.1601= (p.Arg534=)
|
rs6025
|
0.98238
|
NM_000130.5(F5):c.1296+242C>T
|
rs2213868
|
0.95218
|
NM_000130.5(F5):c.5419+12A>G
|
rs6009
|
0.92435
|
NM_000130.5(F5):c.4972-330G>T
|
rs6427197
|
0.92388
|
NM_000130.5(F5):c.1763-260T>C
|
rs1018827
|
0.92090
|
NM_000130.5(F5):c.587-296G>A
|
rs6427202
|
0.67588
|
NM_000130.5(F5):c.731-320C>A
|
rs4656188
|
0.59853
|
NM_000130.5(F5):c.731-195G>A
|
rs4656688
|
0.59845
|
NM_000130.5(F5):c.731-262T>C
|
rs4656689
|
0.59834
|
NM_000130.5(F5):c.952+118A>G
|
rs2239853
|
0.59808
|
NM_000130.5(F5):c.6193+831G>A
|
rs3766103
|
0.49544
|
NM_000130.5(F5):c.*1115C>T
|
rs2040444
|
0.48344
|
NM_000130.5(F5):c.1297-121T>C
|
rs10800456
|
0.43043
|
NM_000130.5(F5):c.5788+122T>G
|
rs12131397
|
0.41947
|
NM_000130.5(F5):c.1397-164C>T
|
rs7537742
|
0.41696
|
NM_000130.5(F5):c.1976-291T>G
|
rs6686805
|
0.41489
|
NM_000130.5(F5):c.5717-50G>A
|
rs2301515
|
0.38964
|
NM_000130.5(F5):c.5209-134T>C
|
rs2157581
|
0.38597
|
NM_000130.5(F5):c.1976-172G>A
|
rs2239852
|
0.38298
|
NM_000130.5(F5):c.552G>T (p.Ser184=)
|
rs6022
|
0.33707
|
NM_000130.5(F5):c.3804T>C (p.Ser1268=)
|
rs1800594
|
0.33303
|
NM_000130.5(F5):c.374-89A>G
|
rs7534848
|
0.33170
|
NM_000130.5(F5):c.374-66T>G
|
rs7545236
|
0.33152
|
NM_000130.5(F5):c.1397-296C>T
|
rs1988608
|
0.33020
|
NM_000130.5(F5):c.587-46G>A
|
rs6012
|
0.32719
|
NM_000130.5(F5):c.374-172G>C
|
rs7522982
|
0.32713
|
NM_000130.5(F5):c.587-188G>A
|
rs6427201
|
0.32696
|
NM_000130.5(F5):c.1611+264T>C
|
rs10800455
|
0.32084
|
NM_000130.5(F5):c.1296+244G>C
|
rs721161
|
0.31934
|
NM_000130.5(F5):c.6528+130A>C
|
rs3820060
|
0.31625
|
NM_000130.5(F5):c.405G>A (p.Ala135=)
|
rs6029
|
0.30714
|
NC_000001.11:g.169586812C>T
|
rs2269648
|
0.30179
|
NM_000130.5(F5):c.4095C>T (p.Thr1365=)
|
rs9332607
|
0.29522
|
NM_000130.5(F5):c.5290A>G (p.Met1764Val)
|
rs6030
|
0.29437
|
NM_000130.5(F5):c.952+76C>T
|
rs2239854
|
0.27986
|
NM_000130.5(F5):c.6529-147G>A
|
rs4656685
|
0.25339
|
NM_000130.5(F5):c.*1601C>T
|
rs2187952
|
0.25334
|
NM_000130.5(F5):c.5600-178A>G
|
rs9332635
|
0.24222
|
NM_000130.5(F5):c.5893-86G>A
|
rs9332643
|
0.24200
|
NM_000130.5(F5):c.4972-88C>T
|
rs9332619
|
0.24167
|
NM_000130.5(F5):c.2573A>G (p.Lys858Arg)
|
rs4524
|
0.24159
|
NM_000130.5(F5):c.5208+73G>A
|
rs9332620
|
0.24159
|
NM_000130.5(F5):c.1976-145G>T
|
rs2239851
|
0.24153
|
NM_000130.5(F5):c.1976-299C>T
|
rs6662696
|
0.24152
|
NM_000130.5(F5):c.2208C>T (p.Ile736=)
|
rs6016
|
0.24147
|
NM_000130.5(F5):c.1976-210A>G
|
rs6675244
|
0.24144
|
NM_000130.5(F5):c.2594A>G (p.His865Arg)
|
rs4525
|
0.24141
|
NM_000130.5(F5):c.2301A>G (p.Ser767=)
|
rs6021
|
0.24140
|
NM_000130.5(F5):c.2773A>G (p.Lys925Glu)
|
rs6032
|
0.24133
|
NM_000130.5(F5):c.6193+246T>C
|
rs2213866
|
0.24080
|
NM_000130.5(F5):c.6193+173A>G
|
rs2213867
|
0.24065
|
NM_000130.5(F5):c.1976-242C>T
|
rs6662593
|
0.23925
|
NM_000130.5(F5):c.2235T>C (p.Asn745=)
|
rs6017
|
0.23336
|
NM_000130.5(F5):c.1612-44A>T
|
rs13306345
|
0.23267
|
NM_000130.5(F5):c.1612-106A>G
|
rs79186925
|
0.23235
|
NM_000130.5(F5):c.1975+98G>T
|
rs9287092
|
0.23009
|
NM_000130.5(F5):c.1762+144G>A
|
rs6672595
|
0.22997
|
NM_000130.5(F5):c.237A>G (p.Gln79=)
|
rs6028
|
0.22486
|
NM_000130.5(F5):c.3948C>T (p.Leu1316=)
|
rs9287090
|
0.21875
|
NM_000130.5(F5):c.1612-86C>T
|
rs13306344
|
0.20457
|
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile)
|
rs1046712
|
0.16155
|
NM_000130.5(F5):c.319G>C (p.Asp107His)
|
rs6019
|
0.14054
|
NM_000130.5(F5):c.374-73C>A
|
rs7523043
|
0.13918
|
NM_000130.5(F5):c.1538G>A (p.Arg513Lys)
|
rs6020
|
0.11893
|
NM_000130.5(F5):c.1396+113T>C
|
rs13306331
|
0.09825
|
NM_000130.5(F5):c.1396+207A>G
|
rs59548259
|
0.08999
|
NM_000130.5(F5):c.1612-95T>C
|
rs12139696
|
0.08898
|
NM_000130.5(F5):c.4972-221C>T
|
rs9332618
|
0.08804
|
NM_000130.5(F5):c.1242A>G (p.Lys414=)
|
rs6035
|
0.08632
|
NM_000130.5(F5):c.953-255C>T
|
rs57637273
|
0.08201
|
NM_000130.5(F5):c.5717-257A>G
|
rs2301517
|
0.07753
|
NM_000130.5(F5):c.1380C>T (p.Asn460=)
|
rs6015
|
0.06377
|
NM_000130.5(F5):c.1716G>A (p.Glu572=)
|
rs6036
|
0.06356
|
NM_000130.5(F5):c.1238T>C (p.Met413Thr)
|
rs6033
|
0.06350
|
NM_000130.5(F5):c.1926C>A (p.Thr642=)
|
rs6037
|
0.06314
|
NM_000130.5(F5):c.730+7C>T
|
rs6023
|
0.05754
|
NM_000130.5(F5):c.*1820A>C
|
rs72708013
|
0.05470
|
NM_000130.5(F5):c.*1246C>T
|
rs9332676
|
0.05464
|
NM_000130.5(F5):c.*873C>T
|
rs9332673
|
0.05461
|
NM_000130.5(F5):c.2450A>C (p.Asn817Thr)
|
rs6018
|
0.05391
|
NM_000130.5(F5):c.2289A>G (p.Glu763=)
|
rs6024
|
0.05387
|
NM_000130.5(F5):c.4796+49A>C
|
rs9332609
|
0.05384
|
NM_000130.5(F5):c.6665A>G (p.Asp2222Gly)
|
rs6027
|
0.05290
|
NM_000130.5(F5):c.5788+180T>C
|
rs9332639
|
0.05284
|
NM_000130.5(F5):c.3980A>G (p.His1327Arg)
|
rs1800595
|
0.05074
|
NM_000130.5(F5):c.730+211G>T
|
rs9332569
|
0.04928
|
NM_000130.5(F5):c.5022A>G (p.Gly1674=)
|
rs6010
|
0.04908
|
NM_000130.5(F5):c.158+237A>G
|
rs9332486
|
0.04892
|
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser)
|
rs9332608
|
0.04654
|
NM_000130.5(F5):c.6049-44T>C
|
rs9332658
|
0.04504
|
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe)
|
rs13306334
|
0.03498
|
NM_000130.5(F5):c.586+37T>C
|
rs2157583
|
0.03449
|
NM_000130.5(F5):c.159-106G>A
|
rs60781559
|
0.03254
|
NM_000130.5(F5):c.251-259C>T
|
rs9332524
|
0.03252
|
NC_000001.11:g.169586807C>G
|
rs9332483
|
0.03249
|
NM_000130.5(F5):c.250+229C>T
|
rs9332498
|
0.03240
|
NM_000130.5(F5):c.6443T>C (p.Met2148Thr)
|
rs9332701
|
0.03115
|
NM_000130.5(F5):c.2425C>T (p.Pro809Ser)
|
rs6031
|
0.02430
|
NM_000130.5(F5):c.3438C>G (p.His1146Gln)
|
rs6005
|
0.02373
|
NM_000130.5(F5):c.*1118G>A
|
rs9332675
|
0.02056
|
NM_000130.5(F5):c.43G>A (p.Gly15Ser)
|
rs9332485
|
0.01876
|
NM_000130.5(F5):c.1397-51T>C
|
rs9332693
|
0.01836
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
NC_000001.11:g.169586581C>T
|
rs9332484
|
0.01699
|
NM_000130.5(F5):c.2925C>T (p.Pro975=)
|
rs41272457
|
0.01542
|
NM_000130.5(F5):c.2743A>T (p.Thr915Ser)
|
rs9332695
|
0.01344
|
NM_000130.5(F5):c.*476C>T
|
rs72708017
|
0.01259
|
NM_000130.5(F5):c.816C>T (p.Asn272=)
|
rs9332578
|
0.01203
|
NM_000130.5(F5):c.2105C>T (p.Thr702Ile)
|
rs78958618
|
0.01131
|
NM_000130.5(F5):c.5460G>A (p.Met1820Ile)
|
rs6026
|
0.00789
|
NM_000130.5(F5):c.*376A>T
|
rs76510731
|
0.00746
|
NM_000130.5(F5):c.158+13T>C
|
rs116416322
|
0.00733
|
NM_000130.5(F5):c.*1488T>C
|
rs75764442
|
0.00676
|
NM_000130.5(F5):c.*1290G>A
|
rs9332677
|
0.00480
|
NM_000130.5(F5):c.3845A>G (p.His1282Arg)
|
rs143333036
|
0.00389
|
NM_000130.5(F5):c.4035A>G (p.Gln1345=)
|
rs886045547
|
0.00377
|
NM_000130.5(F5):c.2129A>G (p.His710Arg)
|
rs115954845
|
0.00366
|
NM_000130.5(F5):c.6309G>A (p.Leu2103=)
|
rs35369423
|
0.00361
|
NM_000130.5(F5):c.2906A>G (p.Asn969Ser)
|
rs9332604
|
0.00302
|
NM_000130.5(F5):c.*891A>G
|
rs9332674
|
0.00298
|
NM_000130.5(F5):c.3751T>C (p.Leu1251=)
|
rs1403856375
|
0.00287
|
NM_000130.5(F5):c.4923C>T (p.Leu1641=)
|
rs116809837
|
0.00272
|
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg)
|
rs6679078
|
0.00271
|
NM_000130.5(F5):c.4563T>C (p.Asp1521=)
|
rs113997556
|
0.00257
|
NM_000130.5(F5):c.*2037G>A
|
rs550454517
|
0.00246
|
NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr)
|
rs150104888
|
0.00246
|
NM_000130.5(F5):c.*581C>A
|
rs180742904
|
0.00227
|
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp)
|
rs149026031
|
0.00216
|
NM_000130.5(F5):c.*216T>A
|
rs186962725
|
0.00188
|
NM_000130.5(F5):c.*396C>A
|
rs181328696
|
0.00188
|
NM_000130.5(F5):c.*363T>G
|
rs115882472
|
0.00187
|
NM_000130.5(F5):c.1612-9G>T
|
rs6038
|
0.00182
|
NM_000130.5(F5):c.2142A>G (p.Glu714=)
|
rs59779968
|
0.00164
|
NM_000130.5(F5):c.6193+7T>A
|
rs185294741
|
0.00156
|
NM_000130.5(F5):c.106G>A (p.Val36Met)
|
rs147487854
|
0.00150
|
NM_000130.5(F5):c.1539A>G (p.Arg513=)
|
rs140627208
|
0.00148
|
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser)
|
rs6011
|
0.00144
|
NM_000130.5(F5):c.5245C>G (p.Leu1749Val)
|
rs6034
|
0.00144
|
NM_000130.5(F5):c.2939G>T (p.Arg980Leu)
|
rs9332605
|
0.00143
|
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile)
|
rs139573207
|
0.00142
|
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)
|
rs144979314
|
0.00140
|
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)
|
rs6007
|
0.00140
|
NM_000130.5(F5):c.-40T>C
|
rs41272465
|
0.00121
|
NM_000130.5(F5):c.5265A>G (p.Ile1755Met)
|
rs41272455
|
0.00113
|
NM_000130.5(F5):c.*441C>T
|
rs188490117
|
0.00105
|
NM_000130.5(F5):c.*598T>G
|
rs544753372
|
0.00081
|
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro)
|
rs144262027
|
0.00081
|
NM_000130.5(F5):c.3504A>C (p.Thr1168=)
|
rs13306332
|
0.00077
|
NM_000130.5(F5):c.1021C>T (p.Arg341Cys)
|
rs200532195
|
0.00076
|
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser)
|
rs141977229
|
0.00075
|
NM_000130.5(F5):c.5431A>T (p.Met1811Leu)
|
rs138877178
|
0.00074
|
NM_000130.5(F5):c.1785G>A (p.Glu595=)
|
rs112333778
|
0.00066
|
NM_000130.5(F5):c.*1912C>T
|
rs865812546
|
0.00063
|
NM_000130.5(F5):c.3211C>T (p.His1071Tyr)
|
rs146408488
|
0.00062
|
NM_000130.5(F5):c.5589C>A (p.Pro1863=)
|
rs148772659
|
0.00061
|
NM_000130.5(F5):c.1086C>T (p.Asp362=)
|
rs147952496
|
0.00058
|
NM_000130.5(F5):c.2752C>T (p.Pro918Ser)
|
rs149389480
|
0.00054
|
NM_000130.5(F5):c.-84G>A
|
rs543172813
|
0.00053
|
NM_000130.5(F5):c.885C>T (p.Thr295=)
|
rs148752831
|
0.00048
|
NM_000130.5(F5):c.5558G>T (p.Gly1853Val)
|
rs182566496
|
0.00039
|
NM_000130.5(F5):c.1391C>T (p.Thr464Ile)
|
rs141768227
|
0.00038
|
NM_000130.5(F5):c.4835A>T (p.Asp1612Val)
|
rs141589936
|
0.00035
|
NM_000130.5(F5):c.1181T>C (p.Val394Ala)
|
rs142875000
|
0.00030
|
NM_000130.5(F5):c.1158A>G (p.Gln386=)
|
rs148623862
|
0.00029
|
NM_000130.5(F5):c.5490G>A (p.Leu1830=)
|
rs149092241
|
0.00029
|
NM_000130.5(F5):c.2806C>G (p.Gln936Glu)
|
rs138086769
|
0.00027
|
NM_000130.5(F5):c.566C>T (p.Pro189Leu)
|
rs141800405
|
0.00027
|
NM_000130.5(F5):c.2835G>A (p.Gly945=)
|
rs370927080
|
0.00026
|
NM_000130.5(F5):c.4309A>T (p.Thr1437Ser)
|
rs115148599
|
0.00026
|
NM_000130.5(F5):c.996A>C (p.Lys332Asn)
|
rs143509841
|
0.00026
|
NM_000130.5(F5):c.2868T>C (p.Tyr956=)
|
rs149067268
|
0.00025
|
NM_000130.5(F5):c.1000A>G (p.Arg334Gly)
|
rs118203905
|
0.00021
|
NM_000130.5(F5):c.2864G>T (p.Ser955Ile)
|
rs199507543
|
0.00021
|
NM_000130.5(F5):c.*1780G>T
|
rs559071301
|
0.00020
|
NM_000130.5(F5):c.5124C>T (p.Tyr1708=)
|
rs199568344
|
0.00019
|
NM_000130.5(F5):c.1297-13T>C
|
rs372389170
|
0.00018
|
NM_000130.5(F5):c.6402G>A (p.Thr2134=)
|
rs144486119
|
0.00017
|
NM_000130.5(F5):c.*838T>C
|
rs376103455
|
0.00016
|
NM_000130.5(F5):c.4346C>T (p.Pro1449Leu)
|
rs113768654
|
0.00016
|
NM_000130.5(F5):c.4641T>C (p.Asp1547=)
|
rs138504020
|
0.00016
|
NM_000130.5(F5):c.4972-14A>C
|
rs763080313
|
0.00016
|
NM_000130.5(F5):c.524A>G (p.His175Arg)
|
rs201510575
|
0.00016
|
NM_000130.5(F5):c.628C>A (p.Gln210Lys)
|
rs144937515
|
0.00016
|
NM_000130.5(F5):c.6401C>T (p.Thr2134Met)
|
rs199601865
|
0.00016
|
NM_000130.5(F5):c.5723G>A (p.Arg1908Lys)
|
rs191148130
|
0.00015
|
NM_000130.5(F5):c.6600T>C (p.Phe2200=)
|
rs142201768
|
0.00015
|
NM_000130.5(F5):c.*1237G>A
|
rs979200861
|
0.00014
|
NM_000130.5(F5):c.*2053G>C
|
rs886045534
|
0.00014
|
NM_000130.5(F5):c.3039G>A (p.Gln1013=)
|
rs769936831
|
0.00014
|
NM_000130.5(F5):c.3221A>G (p.Asn1074Ser)
|
rs200269019
|
0.00014
|
NM_000130.5(F5):c.3243C>T (p.Asp1081=)
|
rs140281633
|
0.00014
|
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala)
|
rs200204656
|
0.00014
|
NM_000130.5(F5):c.437G>A (p.Arg146Gln)
|
rs145625079
|
0.00014
|
NM_000130.5(F5):c.3949G>A (p.Gly1317Ser)
|
rs149048805
|
0.00013
|
NM_000130.5(F5):c.4145C>A (p.Thr1382Lys)
|
rs775712769
|
0.00013
|
NM_000130.5(F5):c.4347G>A (p.Pro1449=)
|
rs145732153
|
0.00013
|
NM_000130.5(F5):c.*1776A>G
|
rs567224548
|
0.00012
|
NM_000130.5(F5):c.4056C>T (p.Leu1352=)
|
rs549332286
|
0.00011
|
NM_000130.5(F5):c.1128G>T (p.Arg376Ser)
|
rs373172802
|
0.00010
|
NM_000130.5(F5):c.1374A>G (p.Glu458=)
|
rs150708584
|
0.00010
|
NM_000130.5(F5):c.2037C>G (p.Phe679Leu)
|
rs374118662
|
0.00010
|
NM_000130.5(F5):c.3089G>A (p.Arg1030Gln)
|
rs758795781
|
0.00010
|
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)
|
rs146312772
|
0.00010
|
NM_000130.5(F5):c.*1432C>T
|
rs886045536
|
0.00009
|
NM_000130.5(F5):c.5177G>A (p.Arg1726Gln)
|
rs369516642
|
0.00009
|
NM_000130.5(F5):c.3257T>C (p.Leu1086Ser)
|
rs116407347
|
0.00008
|
NM_000130.5(F5):c.1001G>C (p.Arg334Thr)
|
rs118203906
|
0.00007
|
NM_000130.5(F5):c.*1170G>A
|
rs191866237
|
0.00006
|
NM_000130.5(F5):c.*149C>G
|
rs534748300
|
0.00006
|
NM_000130.5(F5):c.*1715T>G
|
rs763562497
|
0.00006
|
NM_000130.5(F5):c.*288T>C
|
rs116921763
|
0.00006
|
NM_000130.5(F5):c.*75G>A
|
rs1001647624
|
0.00006
|
NM_000130.5(F5):c.*762G>A
|
rs753366128
|
0.00006
|
NM_000130.5(F5):c.1106C>T (p.Ala369Val)
|
rs200934105
|
0.00006
|
NM_000130.5(F5):c.2557G>A (p.Gly853Ser)
|
rs371753182
|
0.00006
|
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro)
|
rs369276714
|
0.00006
|
NM_000130.5(F5):c.5534A>G (p.His1845Arg)
|
rs200865371
|
0.00006
|
NM_000130.5(F5):c.*1404G>A
|
rs950549168
|
0.00005
|
NM_000130.5(F5):c.*1433G>A
|
rs1324064139
|
0.00005
|
NM_000130.5(F5):c.1033C>T (p.Arg345Trp)
|
rs746260106
|
0.00005
|
NM_000130.5(F5):c.1300G>A (p.Val434Met)
|
rs574610215
|
0.00005
|
NM_000130.5(F5):c.165T>C (p.Asn55=)
|
rs781434840
|
0.00005
|
NM_000130.5(F5):c.3801T>C (p.Leu1267=)
|
rs559683767
|
0.00005
|
NM_000130.5(F5):c.5262A>T (p.Gly1754=)
|
rs759827034
|
0.00005
|
NM_000130.5(F5):c.6589A>G (p.Ile2197Val)
|
rs372005449
|
0.00005
|
NM_000130.5(F5):c.*1857G>A
|
rs145683103
|
0.00004
|
NM_000130.5(F5):c.1624A>G (p.Ile542Val)
|
rs776949074
|
0.00004
|
NM_000130.5(F5):c.2032A>G (p.Lys678Glu)
|
rs201292247
|
0.00004
|
NM_000130.5(F5):c.2383C>G (p.Gln795Glu)
|
rs374379051
|
0.00004
|
NM_000130.5(F5):c.2862del (p.Ser955fs)
|
rs765982916
|
0.00004
|
NM_000130.5(F5):c.3446C>T (p.Ser1149Phe)
|
rs559098136
|
0.00004
|
NM_000130.5(F5):c.5693C>T (p.Thr1898Met)
|
rs367819569
|
0.00004
|
NM_000130.5(F5):c.586+11C>A
|
rs199638362
|
0.00004
|
NM_000130.5(F5):c.6241C>G (p.Gln2081Glu)
|
rs201142225
|
0.00004
|
NM_000130.5(F5):c.*1132A>G
|
rs185213313
|
0.00003
|
NM_000130.5(F5):c.*1257A>C
|
rs527497923
|
0.00003
|
NM_000130.5(F5):c.1034G>A (p.Arg345Gln)
|
rs201078171
|
0.00003
|
NM_000130.5(F5):c.1626C>A (p.Ile542=)
|
rs952054996
|
0.00003
|
NM_000130.5(F5):c.2434C>T (p.His812Tyr)
|
rs1310289906
|
0.00003
|
NM_000130.5(F5):c.4699_4702dup (p.Ala1568fs)
|
rs773569662
|
0.00003
|
NM_000130.5(F5):c.4862G>A (p.Arg1621Gln)
|
rs764766417
|
0.00003
|
NM_000130.5(F5):c.5621T>C (p.Met1874Thr)
|
rs377129476
|
0.00003
|
NM_000130.5(F5):c.738A>G (p.Thr246=)
|
rs375739973
|
0.00003
|
NM_000130.5(F5):c.886G>A (p.Ala296Thr)
|
rs748350385
|
0.00003
|
NM_000130.5(F5):c.1321C>T (p.Arg441Cys)
|
rs747006175
|
0.00002
|
NM_000130.5(F5):c.281T>C (p.Val94Ala)
|
rs751093518
|
0.00002
|
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu)
|
rs373880789
|
0.00002
|
NM_000130.5(F5):c.3702C>T (p.Asp1234=)
|
rs368295218
|
0.00002
|
NM_000130.5(F5):c.434G>A (p.Gly145Asp)
|
rs752741472
|
0.00002
|
NM_000130.5(F5):c.4632G>T (p.Val1544=)
|
rs780992775
|
0.00002
|
NM_000130.5(F5):c.5729C>T (p.Pro1910Leu)
|
rs200805004
|
0.00002
|
NM_000130.5(F5):c.911G>A (p.Gly304Glu)
|
rs865947251
|
0.00002
|
NM_000130.5(F5):c.*1043T>A
|
rs991084730
|
0.00001
|
NM_000130.5(F5):c.*1613A>G
|
rs939304311
|
0.00001
|
NM_000130.5(F5):c.*390C>T
|
rs886045538
|
0.00001
|
NM_000130.5(F5):c.*872C>T
|
rs922113998
|
0.00001
|
NM_000130.5(F5):c.1545C>T (p.Ile515=)
|
rs886045551
|
0.00001
|
NM_000130.5(F5):c.1569T>A (p.Leu523=)
|
rs1398320157
|
0.00001
|
NM_000130.5(F5):c.1600C>T (p.Arg534Ter)
|
rs770011773
|
0.00001
|
NM_000130.5(F5):c.1640T>C (p.Val547Ala)
|
rs772710178
|
0.00001
|
NM_000130.5(F5):c.1659G>A (p.Glu553=)
|
rs370739570
|
0.00001
|
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter)
|
rs905672088
|
0.00001
|
NM_000130.5(F5):c.1973T>C (p.Val658Ala)
|
rs760114041
|
0.00001
|
NM_000130.5(F5):c.2257C>A (p.Leu753Ile)
|
rs148882378
|
0.00001
|
NM_000130.5(F5):c.2321G>C (p.Gly774Ala)
|
rs547915978
|
0.00001
|
NM_000130.5(F5):c.276T>G (p.Ala92=)
|
rs769639191
|
0.00001
|
NM_000130.5(F5):c.3255A>C (p.Thr1085=)
|
rs6006
|
0.00001
|
NM_000130.5(F5):c.3481C>T (p.Arg1161Ter)
|
rs118203909
|
0.00001
|
NM_000130.5(F5):c.3810C>G (p.Ala1270=)
|
rs781657137
|
0.00001
|
NM_000130.5(F5):c.3939C>T (p.Ser1313=)
|
rs1445744008
|
0.00001
|
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys)
|
rs538359973
|
0.00001
|
NM_000130.5(F5):c.4158A>C (p.Pro1386=)
|
rs772368983
|
0.00001
|
NM_000130.5(F5):c.417C>T (p.Asp139=)
|
rs749722664
|
0.00001
|
NM_000130.5(F5):c.4634C>T (p.Pro1545Leu)
|
rs755006563
|
0.00001
|
NM_000130.5(F5):c.5000C>T (p.Pro1667Leu)
|
rs200157005
|
0.00001
|
NM_000130.5(F5):c.5001G>A (p.Pro1667=)
|
rs747456938
|
0.00001
|
NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys)
|
rs118203907
|
0.00001
|
NM_000130.5(F5):c.5332G>C (p.Glu1778Gln)
|
rs886045544
|
0.00001
|
NM_000130.5(F5):c.5365C>T (p.Arg1789Ter)
|
rs201790842
|
0.00001
|
NM_000130.5(F5):c.538G>A (p.Glu180Lys)
|
rs143152035
|
0.00001
|
NM_000130.5(F5):c.5408A>G (p.His1803Arg)
|
rs754104059
|
0.00001
|
NM_000130.5(F5):c.5717-8T>C
|
rs763130267
|
0.00001
|
NM_000130.5(F5):c.5788+4A>T
|
rs759428783
|
0.00001
|
NM_000130.5(F5):c.5933C>T (p.Thr1978Ile)
|
rs768425862
|
0.00001
|
NM_000130.5(F5):c.5976G>A (p.Glu1992=)
|
rs915397925
|
0.00001
|
NM_000130.5(F5):c.6164G>A (p.Arg2055Gln)
|
rs886045542
|
0.00001
|
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp)
|
rs1384690038
|
0.00001
|
NM_000130.5(F5):c.6298C>T (p.Arg2100Cys)
|
rs775843029
|
0.00001
|
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)
|
rs118203910
|
0.00001
|
NM_000130.5(F5):c.6360G>A (p.Lys2120=)
|
rs757104503
|
0.00001
|
NM_000130.5(F5):c.6459T>C (p.Tyr2153=)
|
rs773618429
|
0.00001
|
NM_000130.5(F5):c.6606T>A (p.Arg2202=)
|
rs368496361
|
0.00001
|
NM_000130.5(F5):c.6644G>A (p.Arg2215His)
|
rs952196842
|
0.00001
|
NM_000130.5(F5):c.910G>A (p.Gly304Arg)
|
rs747353298
|
0.00001
|
NM_000130.5(F5):c.936C>T (p.Thr312=)
|
rs758832130
|
0.00001
|
NC_000001.11:g.169586735G>C
|
rs16862404
|
|
NM_000130.4(F5):c.-110C>A
|
rs886045552
|
|
NM_000130.4(F5):c.5392G>A (p.Glu1798Lys)
|
rs386834227
|
|
NM_000130.4(F5):c.5668G>A (p.Glu1890Lys)
|
rs386834228
|
|
NM_000130.5(F5):c.*104A>C
|
rs886045540
|
|
NM_000130.5(F5):c.*1301A>T
|
rs1557902119
|
|
NM_000130.5(F5):c.*1436T>A
|
rs9332678
|
|
NM_000130.5(F5):c.*1531C>T
|
rs1659060074
|
|
NM_000130.5(F5):c.*157A>T
|
rs886045539
|
|
NM_000130.5(F5):c.*1699G>T
|
rs537882111
|
|
NM_000130.5(F5):c.*1939T>C
|
rs886045535
|
|
NM_000130.5(F5):c.*2148C>T
|
rs369159875
|
|
NM_000130.5(F5):c.*2328G>C
|
rs6427196
|
|
NM_000130.5(F5):c.*2351C>A
|
rs542773186
|
|
NM_000130.5(F5):c.*366A>G
|
rs1659095114
|
|
NM_000130.5(F5):c.*400C>G
|
rs886045537
|
|
NM_000130.5(F5):c.1002G>A (p.Arg334=)
|
|
|
NM_000130.5(F5):c.1004A>T (p.Asn335Ile)
|
|
|
NM_000130.5(F5):c.1014A>G (p.Lys338=)
|
|
|
NM_000130.5(F5):c.1029G>A (p.Gln343=)
|
|
|
NM_000130.5(F5):c.1042_1049del (p.Lys348fs)
|
rs2101829195
|
|
NM_000130.5(F5):c.1062T>G (p.Ile354Met)
|
|
|
NM_000130.5(F5):c.1089T>C (p.Tyr363=)
|
|
|
NM_000130.5(F5):c.108G>A (p.Val36=)
|
|
|
NM_000130.5(F5):c.1107G>A (p.Ala369=)
|
|
|
NM_000130.5(F5):c.1118+12G>C
|
|
|
NM_000130.5(F5):c.1118+13G>A
|
|
|
NM_000130.5(F5):c.1118+14del
|
|
|
NM_000130.5(F5):c.1118+18A>G
|
|
|
NM_000130.5(F5):c.1119-11T>C
|
|
|
NM_000130.5(F5):c.1119-12C>T
|
|
|
NM_000130.5(F5):c.1119-14del
|
|
|
NM_000130.5(F5):c.1119-14dup
|
|
|
NM_000130.5(F5):c.1119-9C>A
|
|
|
NM_000130.5(F5):c.111T>A (p.Ala37=)
|
rs537081933
|
|
NM_000130.5(F5):c.112G>T (p.Ala38Ser)
|
|
|
NM_000130.5(F5):c.1137T>C (p.His379=)
|
|
|
NM_000130.5(F5):c.1160T>C (p.Ile387Thr)
|
rs118203911
|
|
NM_000130.5(F5):c.1189_1197del (p.Thr397_Tyr399del)
|
|
|
NM_000130.5(F5):c.1197C>T (p.Tyr399=)
|
|
|
NM_000130.5(F5):c.120C>A (p.Gly40=)
|
|
|
NM_000130.5(F5):c.1213A>T (p.Thr405Ser)
|
|
|
NM_000130.5(F5):c.1224A>G (p.Thr408=)
|
|
|
NM_000130.5(F5):c.1234A>G (p.Asn412Asp)
|
|
|
NM_000130.5(F5):c.1258G>T (p.Gly420Cys)
|
|
|
NM_000130.5(F5):c.1265T>C (p.Ile422Thr)
|
rs2101827179
|
|
NM_000130.5(F5):c.1287C>G (p.Asp429Glu)
|
|
|
NM_000130.5(F5):c.1296+10A>C
|
|
|
NM_000130.5(F5):c.1296+12A>C
|
|
|
NM_000130.5(F5):c.1296+13A>G
|
|
|
NM_000130.5(F5):c.1296+62G>A
|
rs9332582
|
|
NM_000130.5(F5):c.1297-15G>A
|
|
|
NM_000130.5(F5):c.1297-20A>C
|
|
|
NM_000130.5(F5):c.1297-2A>G
|
rs762646464
|
|
NM_000130.5(F5):c.1297-4G>T
|
|
|
NM_000130.5(F5):c.1305C>T (p.Phe435=)
|
|
|
NM_000130.5(F5):c.1317C>G (p.Ala439=)
|
|
|
NM_000130.5(F5):c.1321C>G (p.Arg441Gly)
|
rs747006175
|
|
NM_000130.5(F5):c.1322G>A (p.Arg441His)
|
|
|
NM_000130.5(F5):c.1340C>G (p.Pro447Arg)
|
rs368387623
|
|
NM_000130.5(F5):c.1359G>A (p.Ser453=)
|
|
|
NM_000130.5(F5):c.1365T>C (p.Tyr455=)
|
|
|
NM_000130.5(F5):c.136C>A (p.Arg46=)
|
|
|
NM_000130.5(F5):c.136C>G (p.Arg46Gly)
|
|
|
NM_000130.5(F5):c.137G>A (p.Arg46Gln)
|
|
|
NM_000130.5(F5):c.1396+18C>G
|
|
|
NM_000130.5(F5):c.1396+18del
|
|
|
NM_000130.5(F5):c.1396+2T>C
|
|
|
NM_000130.5(F5):c.1397-20T>C
|
|
|
NM_000130.5(F5):c.1397-255A>G
|
rs1988607
|
|
NM_000130.5(F5):c.1397-4T>C
|
rs1571581824
|
|
NM_000130.5(F5):c.1406A>C (p.Asn469Thr)
|
|
|
NM_000130.5(F5):c.1449T>C (p.Tyr483=)
|
|
|
NM_000130.5(F5):c.1452G>C (p.Lys484Asn)
|
|
|
NM_000130.5(F5):c.1464A>G (p.Leu488=)
|
|
|
NM_000130.5(F5):c.1498T>G (p.Cys500Gly)
|
rs1571581722
|
|
NM_000130.5(F5):c.149C>T (p.Thr50Ile)
|
|
|
NM_000130.5(F5):c.1512A>G (p.Pro504=)
|
|
|
NM_000130.5(F5):c.1521T>C (p.Ser507=)
|
|
|
NM_000130.5(F5):c.1524C>T (p.Asp508=)
|
|
|
NM_000130.5(F5):c.1538_1539delinsAG (p.Arg513Lys)
|
|
|
NM_000130.5(F5):c.1546G>T (p.Ala516Ser)
|
rs916286148
|
|
NM_000130.5(F5):c.155C>G (p.Ser52Ter)
|
|
|
NM_000130.5(F5):c.1563A>G (p.Gly521=)
|
|
|
NM_000130.5(F5):c.156A>G (p.Ser52=)
|
|
|
NM_000130.5(F5):c.1572A>G (p.Leu524=)
|
rs1304442049
|
|
NM_000130.5(F5):c.1575C>T (p.Ile525=)
|
|
|
NM_000130.5(F5):c.158+16A>C
|
|
|
NM_000130.5(F5):c.158+19C>T
|
|
|
NM_000130.5(F5):c.158+87dup
|
rs372224504
|
|
NM_000130.5(F5):c.158+8A>C
|
rs1571608314
|
|
NM_000130.5(F5):c.159-15G>A
|
|
|
NM_000130.5(F5):c.159-8A>T
|
|
|
NM_000130.5(F5):c.1592T>C (p.Leu531Pro)
|
|
|
NM_000130.5(F5):c.1611+13T>A
|
|
|
NM_000130.5(F5):c.1611+154dup
|
rs55717622
|
|
NM_000130.5(F5):c.1611+15A>G
|
|
|
NM_000130.5(F5):c.1611+166del
|
rs55717622
|
|
NM_000130.5(F5):c.1611+17G>A
|
|
|
NM_000130.5(F5):c.1611+218_1611+219del
|
rs56100784
|
|
NM_000130.5(F5):c.1612-10T>C
|
|
|
NM_000130.5(F5):c.1612-10dup
|
|
|
NM_000130.5(F5):c.1612-15T>C
|
|
|
NM_000130.5(F5):c.1612-16C>A
|
|
|
NM_000130.5(F5):c.1612-309C>G
|
rs12143223
|
|
NM_000130.5(F5):c.1619C>T (p.Ala540Val)
|
|
|
NM_000130.5(F5):c.1626C>T (p.Ile542=)
|
|
|
NM_000130.5(F5):c.1662C>T (p.Asn554=)
|
|
|
NM_000130.5(F5):c.1665A>G (p.Lys555=)
|
|
|
NM_000130.5(F5):c.1667G>A (p.Ser556Asn)
|
|
|
NM_000130.5(F5):c.1671G>C (p.Trp557Cys)
|
rs1571578995
|
|
NM_000130.5(F5):c.1673A>G (p.Tyr558Cys)
|
|
|
NM_000130.5(F5):c.171T>C (p.Ser57=)
|
|
|
NM_000130.5(F5):c.1737G>A (p.Lys579=)
|
|
|
NM_000130.5(F5):c.1762+233_1762+234insAT
|
rs112177003
|
|
NM_000130.5(F5):c.1762+234GT[12]
|
rs3835453
|
|
NM_000130.5(F5):c.1762+234GT[13]
|
rs3835453
|
|
NM_000130.5(F5):c.1762+234GT[15]
|
rs3835453
|
|
NM_000130.5(F5):c.1762+299A>G
|
rs1894694
|
|
NM_000130.5(F5):c.1763-10A>G
|
|
|
NM_000130.5(F5):c.1763-15A>T
|
|
|
NM_000130.5(F5):c.1763-16G>C
|
|
|
NM_000130.5(F5):c.1763-9C>T
|
|
|
NM_000130.5(F5):c.1770T>C (p.Asn590=)
|
|
|
NM_000130.5(F5):c.1772G>C (p.Gly591Ala)
|
|
|
NM_000130.5(F5):c.1773C>T (p.Gly591=)
|
|
|
NM_000130.5(F5):c.1776T>C (p.Tyr592=)
|
|
|
NM_000130.5(F5):c.1777G>T (p.Val593Leu)
|
|
|
NM_000130.5(F5):c.1788C>T (p.Ser596=)
|
|
|
NM_000130.5(F5):c.1797T>C (p.Thr599=)
|
|
|
NM_000130.5(F5):c.1830_1831dup (p.His611fs)
|
rs1571577365
|
|
NM_000130.5(F5):c.1833C>T (p.His611=)
|
|
|
NM_000130.5(F5):c.1842T>C (p.Ser614=)
|
|
|
NM_000130.5(F5):c.1853A>C (p.Gln618Pro)
|
|
|
NM_000130.5(F5):c.1854G>A (p.Gln618=)
|
|
|
NM_000130.5(F5):c.1867A>G (p.Thr623Ala)
|
rs1571577319
|
|
NM_000130.5(F5):c.1869C>T (p.Thr623=)
|
|
|
NM_000130.5(F5):c.1884G>T (p.Gly628=)
|
|
|
NM_000130.5(F5):c.1903A>G (p.Lys635Glu)
|
|
|
NM_000130.5(F5):c.1911T>C (p.His637=)
|
|
|
NM_000130.5(F5):c.1920C>T (p.Thr640=)
|
|
|
NM_000130.5(F5):c.1944A>G (p.Gly648=)
|
|
|
NM_000130.5(F5):c.1956G>A (p.Thr652=)
|
|
|
NM_000130.5(F5):c.1956G>C (p.Thr652=)
|
|
|
NM_000130.5(F5):c.1971T>C (p.Asn657=)
|
|
|
NM_000130.5(F5):c.1975+10A>G
|
|
|
NM_000130.5(F5):c.1975+14T>C
|
|
|
NM_000130.5(F5):c.1975+19A>G
|
|
|
NM_000130.5(F5):c.1975+20C>T
|
|
|
NM_000130.5(F5):c.1975G>A (p.Gly659Arg)
|
rs759167620
|
|
NM_000130.5(F5):c.1976-15G>A
|
|
|
NM_000130.5(F5):c.2001T>G (p.Asn667Lys)
|
|
|
NM_000130.5(F5):c.2021del (p.Lys674fs)
|
|
|
NM_000130.5(F5):c.2025G>A (p.Leu675=)
|
|
|
NM_000130.5(F5):c.2029C>T (p.Leu677=)
|
|
|
NM_000130.5(F5):c.2042A>G (p.Asp681Gly)
|
rs886045550
|
|
NM_000130.5(F5):c.2067T>C (p.Asp689=)
|
|
|
NM_000130.5(F5):c.2076A>G (p.Ser692=)
|
|
|
NM_000130.5(F5):c.2077T>G (p.Tyr693Asp)
|
|
|
NM_000130.5(F5):c.2119C>A (p.Arg707=)
|
|
|
NM_000130.5(F5):c.2119C>T (p.Arg707Trp)
|
|
|
NM_000130.5(F5):c.211C>A (p.Pro71Thr)
|
|
|
NM_000130.5(F5):c.2127G>A (p.Met709Ile)
|
rs193920869
|
|
NM_000130.5(F5):c.2136T>A (p.Arg712=)
|
|
|
NM_000130.5(F5):c.2136T>C (p.Arg712=)
|
|
|
NM_000130.5(F5):c.2157G>A (p.Glu719=)
|
|
|
NM_000130.5(F5):c.2159G>A (p.Ser720Asn)
|
|
|
NM_000130.5(F5):c.2163T>C (p.Asp721=)
|
|
|
NM_000130.5(F5):c.21C>T (p.Arg7=)
|
|
|
NM_000130.5(F5):c.2200T>C (p.Leu734=)
|
|
|
NM_000130.5(F5):c.2211G>A (p.Arg737=)
|
|
|
NM_000130.5(F5):c.2218C>A (p.Arg740=)
|
|
|
NM_000130.5(F5):c.2218C>T (p.Arg740Ter)
|
rs757953549
|
|
NM_000130.5(F5):c.2226A>G (p.Ser742=)
|
|
|
NM_000130.5(F5):c.2228C>A (p.Ser743Ter)
|
|
|
NM_000130.5(F5):c.2232G>C (p.Leu744Phe)
|
rs2101820303
|
|
NM_000130.5(F5):c.2234A>G (p.Asn745Ser)
|
rs2101820299
|
|
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del)
|
rs575766548
|
|
NM_000130.5(F5):c.2248_2250del (p.Glu750del)
|
|
|
NM_000130.5(F5):c.2292C>T (p.Phe764=)
|
|
|
NM_000130.5(F5):c.22C>T (p.Leu8Phe)
|
|
|
NM_000130.5(F5):c.2313A>T (p.Ile771=)
|
|
|
NM_000130.5(F5):c.2315T>C (p.Ile772Thr)
|
|
|
NM_000130.5(F5):c.2345A>C (p.Asn782Thr)
|
rs2101820164
|
|
NM_000130.5(F5):c.2364C>G (p.Val788=)
|
|
|
NM_000130.5(F5):c.2364C>T (p.Val788=)
|
|
|
NM_000130.5(F5):c.2380C>A (p.Pro794Thr)
|
|
|
NM_000130.5(F5):c.2391C>T (p.Ala797=)
|
|
|
NM_000130.5(F5):c.2397T>A (p.Ser799=)
|
|
|
NM_000130.5(F5):c.2401C>T (p.Gln801Ter)
|
rs118203908
|
|
NM_000130.5(F5):c.240T>C (p.Ser80=)
|
|
|
NM_000130.5(F5):c.2427A>G (p.Pro809=)
|
|
|
NM_000130.5(F5):c.243C>A (p.Thr81=)
|
|
|
NM_000130.5(F5):c.244A>G (p.Ile82Val)
|
|
|
NM_000130.5(F5):c.2490A>G (p.Pro830=)
|
|
|
NM_000130.5(F5):c.250+104G>A
|
rs113027984
|
|
NM_000130.5(F5):c.250+10A>C
|
|
|
NM_000130.5(F5):c.250+110_250+111dup
|
rs56901113
|
|
NM_000130.5(F5):c.250+110dup
|
rs56901113
|
|
NM_000130.5(F5):c.250+13T>G
|
|
|
NM_000130.5(F5):c.250+18T>C
|
|
|
NM_000130.5(F5):c.2506A>G (p.Ile836Val)
|
|
|
NM_000130.5(F5):c.251-17A>C
|
|
|
NM_000130.5(F5):c.251-6del
|
|
|
NM_000130.5(F5):c.2511G>A (p.Glu837=)
|
|
|
NM_000130.5(F5):c.2521C>T (p.Gln841Ter)
|
|
|
NM_000130.5(F5):c.2521del (p.Gln841fs)
|
|
|
NM_000130.5(F5):c.2532C>T (p.Val844=)
|
|
|
NM_000130.5(F5):c.2538G>A (p.Gly846=)
|
|
|
NM_000130.5(F5):c.2539A>G (p.Ile847Val)
|
|
|
NM_000130.5(F5):c.2539del (p.Ile847fs)
|
rs1571575520
|
|
NM_000130.5(F5):c.254T>G (p.Leu85Arg)
|
|
|
NM_000130.5(F5):c.2563G>A (p.Gly855Arg)
|
|
|
NM_000130.5(F5):c.256C>T (p.Leu86Phe)
|
|
|
NM_000130.5(F5):c.2603C>T (p.Pro868Leu)
|
|
|
NM_000130.5(F5):c.2615del (p.Arg872fs)
|
rs2101819850
|
|
NM_000130.5(F5):c.2631G>A (p.Lys877=)
|
|
|
NM_000130.5(F5):c.264T>C (p.Pro88=)
|
|
|
NM_000130.5(F5):c.2658A>G (p.Leu886=)
|
|
|
NM_000130.5(F5):c.2668G>T (p.Val890Phe)
|
|
|
NM_000130.5(F5):c.2691C>T (p.Asp897=)
|
|
|
NM_000130.5(F5):c.2706C>T (p.Ser902=)
|
|
|
NM_000130.5(F5):c.271T>C (p.Tyr91His)
|
|
|
NM_000130.5(F5):c.2735G>T (p.Ser912Ile)
|
|
|
NM_000130.5(F5):c.2743_2744del (p.Thr915fs)
|
|
|
NM_000130.5(F5):c.2754T>A (p.Pro918=)
|
|
|
NM_000130.5(F5):c.2780del (p.Pro927fs)
|
|
|
NM_000130.5(F5):c.2793G>A (p.Leu931=)
|
|
|
NM_000130.5(F5):c.2798T>C (p.Leu933Pro)
|
|
|
NM_000130.5(F5):c.2799C>T (p.Leu933=)
|
|
|
NM_000130.5(F5):c.282C>T (p.Val94=)
|
|
|
NM_000130.5(F5):c.2830G>A (p.Val944Ile)
|
|
|
NM_000130.5(F5):c.2833G>A (p.Gly945Arg)
|
rs868740297
|
|
NM_000130.5(F5):c.2837G>T (p.Arg946Ile)
|
rs2101819634
|
|
NM_000130.5(F5):c.2838A>G (p.Arg946=)
|
|
|
NM_000130.5(F5):c.2859A>G (p.Lys953=)
|
|
|
NM_000130.5(F5):c.286G>C (p.Asp96His)
|
|
|
NM_000130.5(F5):c.2883T>C (p.Asp961=)
|
|
|
NM_000130.5(F5):c.288C>T (p.Asp96=)
|
|
|
NM_000130.5(F5):c.2896A>C (p.Thr966Pro)
|
|
|
NM_000130.5(F5):c.2898A>G (p.Thr966=)
|
|
|
NM_000130.5(F5):c.2923C>T (p.Pro975Ser)
|
rs199734164
|
|
NM_000130.5(F5):c.2925C>G (p.Pro975=)
|
|
|
NM_000130.5(F5):c.2943T>C (p.Ala981=)
|
|
|
NM_000130.5(F5):c.2946G>A (p.Trp982Ter)
|
|
|
NM_000130.5(F5):c.2957C>T (p.Thr986Ile)
|
|
|
NM_000130.5(F5):c.2998A>G (p.Lys1000Glu)
|
|
|
NM_000130.5(F5):c.3000G>A (p.Lys1000=)
|
|
|
NM_000130.5(F5):c.3009A>C (p.Arg1003Ser)
|
|
|
NM_000130.5(F5):c.3027A>G (p.Leu1009=)
|
|
|
NM_000130.5(F5):c.3062A>G (p.Lys1021Arg)
|
|
|
NM_000130.5(F5):c.3065A>C (p.Lys1022Thr)
|
|
|
NM_000130.5(F5):c.3072G>A (p.Gln1024=)
|
|
|
NM_000130.5(F5):c.3078C>G (p.Leu1026=)
|
|
|
NM_000130.5(F5):c.3081T>C (p.Ile1027=)
|
|
|
NM_000130.5(F5):c.3084G>A (p.Lys1028=)
|
|
|
NM_000130.5(F5):c.3087A>G (p.Thr1029=)
|
|
|
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)
|
|
|
NM_000130.5(F5):c.3105G>A (p.Glu1035=)
|
|
|
NM_000130.5(F5):c.3106_3108del (p.Lys1036del)
|
|
|
NM_000130.5(F5):c.3120T>C (p.His1040=)
|
rs1571574660
|
|
NM_000130.5(F5):c.3124C>T (p.Pro1042Ser)
|
|
|
NM_000130.5(F5):c.3135G>A (p.Pro1045=)
|
rs760055896
|
|
NM_000130.5(F5):c.3135G>T (p.Pro1045=)
|
|
|
NM_000130.5(F5):c.3165C>A (p.Ala1055=)
|
|
|
NM_000130.5(F5):c.3168C>T (p.Tyr1056=)
|
|
|
NM_000130.5(F5):c.3170_3174del (p.Asn1057fs)
|
rs1571574574
|
|
NM_000130.5(F5):c.3174A>G (p.Thr1058=)
|
|
|
NM_000130.5(F5):c.3187dup (p.Arg1063fs)
|
rs386834226
|
|
NM_000130.5(F5):c.3195G>A (p.Lys1065=)
|
|
|
NM_000130.5(F5):c.3201G>A (p.Ser1067=)
|
|
|
NM_000130.5(F5):c.3220A>G (p.Asn1074Asp)
|
|
|
NM_000130.5(F5):c.3234T>C (p.Leu1078=)
|
|
|
NM_000130.5(F5):c.3252G>A (p.Gln1084=)
|
|
|
NM_000130.5(F5):c.3255A>G (p.Thr1085=)
|
|
|
NM_000130.5(F5):c.3261C>G (p.Pro1087=)
|
rs886045549
|
|
NM_000130.5(F5):c.3269A>G (p.Asp1090Gly)
|
rs1659859528
|
|
NM_000130.5(F5):c.3288A>G (p.Ser1096=)
|
rs1571574424
|
|
NM_000130.5(F5):c.3307A>T (p.Asn1103Tyr)
|
rs886045548
|
|
NM_000130.5(F5):c.3311C>A (p.Ser1104Tyr)
|
rs188882337
|
|
NM_000130.5(F5):c.3312C>T (p.Ser1104=)
|
|
|
NM_000130.5(F5):c.3322del (p.Thr1108fs)
|
|
|
NM_000130.5(F5):c.3325G>A (p.Gly1109Ser)
|
|
|
NM_000130.5(F5):c.3331G>A (p.Ala1111Thr)
|
|
|
NM_000130.5(F5):c.3335G>C (p.Ser1112Thr)
|
|
|
NM_000130.5(F5):c.3339T>C (p.Cys1113=)
|
|
|
NM_000130.5(F5):c.333C>A (p.Ser111Arg)
|
rs1571598716
|
|
NM_000130.5(F5):c.3361G>C (p.Val1121Leu)
|
|
|
NM_000130.5(F5):c.3364C>T (p.Pro1122Ser)
|
|
|
NM_000130.5(F5):c.3365C>A (p.Pro1122His)
|
|
|
NM_000130.5(F5):c.3387A>C (p.Thr1129=)
|
|
|
NM_000130.5(F5):c.33G>T (p.Leu11=)
|
|
|
NM_000130.5(F5):c.3423T>A (p.Thr1141=)
|
|
|
NM_000130.5(F5):c.3455A>C (p.Glu1152Ala)
|
rs543751483
|
|
NM_000130.5(F5):c.3456G>A (p.Glu1152=)
|
|
|
NM_000130.5(F5):c.3483A>G (p.Arg1161=)
|
|
|
NM_000130.5(F5):c.3495C>G (p.Ser1165=)
|
|
|
NM_000130.5(F5):c.3501C>G (p.Pro1167=)
|
|
|
NM_000130.5(F5):c.3511A>C (p.Ser1171Arg)
|
|
|
NM_000130.5(F5):c.3531A>T (p.Ser1177=)
|
|
|
NM_000130.5(F5):c.3532G>T (p.Glu1178Ter)
|
|
|
NM_000130.5(F5):c.3552A>G (p.Thr1184=)
|
|
|
NM_000130.5(F5):c.3577del (p.Gln1192_Val1193insTer)
|
rs2101818861
|
|
NM_000130.5(F5):c.3582C>G (p.Thr1194=)
|
|
|
NM_000130.5(F5):c.3582C>T (p.Thr1194=)
|
|
|
NM_000130.5(F5):c.3585C>G (p.Leu1195=)
|
|
|
NM_000130.5(F5):c.358A>G (p.Ser120Gly)
|
rs1571598694
|
|
NM_000130.5(F5):c.3606A>G (p.Thr1202=)
|
|
|
NM_000130.5(F5):c.3618A>G (p.Pro1206=)
|
|
|
NM_000130.5(F5):c.3621C>T (p.Asp1207=)
|
|
|
NM_000130.5(F5):c.3622C>T (p.Leu1208Phe)
|
|
|
NM_000130.5(F5):c.3624C>G (p.Leu1208=)
|
|
|
NM_000130.5(F5):c.3624C>T (p.Leu1208=)
|
|
|
NM_000130.5(F5):c.3646G>T (p.Glu1216Ter)
|
|
|
NM_000130.5(F5):c.3663C>T (p.Asn1221=)
|
|
|
NM_000130.5(F5):c.3674C>A (p.Ala1225Asp)
|
rs2101818750
|
|
NM_000130.5(F5):c.3678C>T (p.Leu1226=)
|
|
|
NM_000130.5(F5):c.3679G>A (p.Gly1227Ser)
|
|
|
NM_000130.5(F5):c.3690C>T (p.Pro1230=)
|
|
|
NM_000130.5(F5):c.3691A>C (p.Ile1231Leu)
|
rs1338927825
|
|
NM_000130.5(F5):c.3697CCAGACCTCAGCCATACAACCCTTTCT[1] (p.1233PDLSHTTLS[1])
|
|
|
NM_000130.5(F5):c.3729C>T (p.Asp1243=)
|
|
|
NM_000130.5(F5):c.373+16T>C
|
|
|
NM_000130.5(F5):c.373+1G>A
|
|
|
NM_000130.5(F5):c.3739A>G (p.Thr1247Ala)
|
|
|
NM_000130.5(F5):c.374-19A>T
|
|
|
NM_000130.5(F5):c.374-2del
|
|
|
NM_000130.5(F5):c.374G>A (p.Gly125Asp)
|
rs760694648
|
|
NM_000130.5(F5):c.3768A>G (p.Thr1256=)
|
|
|
NM_000130.5(F5):c.3770A>C (p.Asn1257Thr)
|
|
|
NM_000130.5(F5):c.3771C>T (p.Asn1257=)
|
|
|
NM_000130.5(F5):c.378T>C (p.Ala126=)
|
|
|
NM_000130.5(F5):c.3799del (p.Leu1267fs)
|
|
|
NM_000130.5(F5):c.3813C>G (p.Leu1271=)
|
|
|
NM_000130.5(F5):c.3813C>T (p.Leu1271=)
|
|
|
NM_000130.5(F5):c.3814G>T (p.Gly1272Cys)
|
|
|
NM_000130.5(F5):c.3821T>C (p.Met1274Thr)
|
|
|
NM_000130.5(F5):c.3824C>T (p.Pro1275Leu)
|
|
|
NM_000130.5(F5):c.3825C>G (p.Pro1275=)
|
|
|
NM_000130.5(F5):c.3833C>T (p.Pro1278Leu)
|
|
|
NM_000130.5(F5):c.3840C>T (p.Leu1280=)
|
|
|
NM_000130.5(F5):c.3841A>G (p.Ser1281Gly)
|
|
|
NM_000130.5(F5):c.3852C>A (p.Thr1284=)
|
|
|
NM_000130.5(F5):c.3865T>C (p.Phe1289Leu)
|
rs781371990
|
|
NM_000130.5(F5):c.3909C>G (p.Leu1303=)
|
|
|
NM_000130.5(F5):c.3909C>T (p.Leu1303=)
|
|
|
NM_000130.5(F5):c.3924_3927del (p.Ser1308fs)
|
rs2101818393
|
|
NM_000130.5(F5):c.3936T>C (p.Leu1312=)
|
|
|
NM_000130.5(F5):c.3942A>G (p.Pro1314=)
|
|
|
NM_000130.5(F5):c.3951T>C (p.Gly1317=)
|
|
|
NM_000130.5(F5):c.3961A>C (p.Ile1321Leu)
|
rs112331368
|
|
NM_000130.5(F5):c.396A>T (p.Thr132=)
|
|
|
NM_000130.5(F5):c.3970G>T (p.Asp1324Tyr)
|
|
|
NM_000130.5(F5):c.3987C>A (p.Thr1329=)
|
|
|
NM_000130.5(F5):c.3987C>T (p.Thr1329=)
|
|
|
NM_000130.5(F5):c.3995T>C (p.Leu1332Pro)
|
rs1241060030
|
|
NM_000130.5(F5):c.399C>T (p.Phe133=)
|
|
|
NM_000130.5(F5):c.4000T>C (p.Phe1334Leu)
|
rs147741798
|
|
NM_000130.5(F5):c.4011A>T (p.Thr1337=)
|
rs1571573291
|
|
NM_000130.5(F5):c.4013A>C (p.Asn1338Thr)
|
rs1418336095
|
|
NM_000130.5(F5):c.4020T>C (p.Ser1340=)
|
|
|
NM_000130.5(F5):c.4023A>T (p.Pro1341=)
|
|
|
NM_000130.5(F5):c.402T>C (p.Pro134=)
|
|
|
NM_000130.5(F5):c.404C>T (p.Ala135Val)
|
|
|
NM_000130.5(F5):c.404_405delinsTA (p.Ala135Val)
|
|
|
NM_000130.5(F5):c.4057G>A (p.Gly1353Ser)
|
|
|
NM_000130.5(F5):c.4068C>T (p.Pro1356=)
|
|
|
NM_000130.5(F5):c.4069C>T (p.Leu1357Phe)
|
|
|
NM_000130.5(F5):c.4072T>C (p.Ser1358Pro)
|
|
|
NM_000130.5(F5):c.4081C>A (p.Pro1361Thr)
|
|
|
NM_000130.5(F5):c.4082C>T (p.Pro1361Leu)
|
rs200676405
|
|
NM_000130.5(F5):c.4083dup (p.Ser1362fs)
|
|
|
NM_000130.5(F5):c.4085G>C (p.Ser1362Thr)
|
|
|
NM_000130.5(F5):c.4096del (p.Leu1366fs)
|
rs1659825695
|
|
NM_000130.5(F5):c.4125C>G (p.Leu1375=)
|
|
|
NM_000130.5(F5):c.4126T>C (p.Ser1376Pro)
|
|
|
NM_000130.5(F5):c.413T>C (p.Met138Thr)
|
|
|
NM_000130.5(F5):c.413dup (p.Met138fs)
|
|
|
NM_000130.5(F5):c.4143G>A (p.Gln1381=)
|
|
|
NM_000130.5(F5):c.4146A>T (p.Thr1382=)
|
|
|
NM_000130.5(F5):c.4161C>T (p.Asp1387=)
|
|
|
NM_000130.5(F5):c.4172T>C (p.Met1391Thr)
|
rs771458343
|
|
NM_000130.5(F5):c.4179C>T (p.Leu1393=)
|
|
|
NM_000130.5(F5):c.4206T>C (p.Leu1402=)
|
|
|
NM_000130.5(F5):c.420C>T (p.Asp140=)
|
|
|
NM_000130.5(F5):c.4218C>T (p.Leu1406=)
|
|
|
NM_000130.5(F5):c.4229C>T (p.Thr1410Ile)
|
|
|
NM_000130.5(F5):c.4242C>T (p.Asp1414=)
|
rs759737015
|
|
NM_000130.5(F5):c.425T>C (p.Val142Ala)
|
|
|
NM_000130.5(F5):c.4269C>T (p.Asn1423=)
|
|
|
NM_000130.5(F5):c.4281G>A (p.Met1427Ile)
|
|
|
NM_000130.5(F5):c.4285C>A (p.Leu1429Ile)
|
|
|
NM_000130.5(F5):c.4290C>T (p.Ser1430=)
|
|
|
NM_000130.5(F5):c.4291C>G (p.Pro1431Ala)
|
|
|
NM_000130.5(F5):c.4297C>T (p.Leu1433Phe)
|
rs2101817787
|
|
NM_000130.5(F5):c.4312C>G (p.Leu1438Val)
|
|
|
NM_000130.5(F5):c.4317_4318del (p.Pro1440fs)
|
|
|
NM_000130.5(F5):c.4356C>A (p.Ser1452Arg)
|
rs751749207
|
|
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
|
|
|
NM_000130.5(F5):c.4371T>C (p.Pro1457=)
|
|
|
NM_000130.5(F5):c.439G>T (p.Glu147Ter)
|
rs118203912
|
|
NM_000130.5(F5):c.4410T>C (p.Ser1470=)
|
|
|
NM_000130.5(F5):c.4437T>C (p.Asn1479=)
|
|
|
NM_000130.5(F5):c.444C>T (p.Tyr148=)
|
|
|
NM_000130.5(F5):c.4452T>C (p.Tyr1484=)
|
|
|
NM_000130.5(F5):c.4465C>T (p.Gln1489Ter)
|
|
|
NM_000130.5(F5):c.4476T>C (p.Ser1492=)
|
|
|
NM_000130.5(F5):c.4494C>T (p.Leu1498=)
|
|
|
NM_000130.5(F5):c.4497T>C (p.Asn1499=)
|
|
|
NM_000130.5(F5):c.4509A>G (p.Leu1503=)
|
|
|
NM_000130.5(F5):c.4528C>T (p.Leu1510=)
|
|
|
NM_000130.5(F5):c.4534A>G (p.Ile1512Val)
|
|
|
NM_000130.5(F5):c.4554T>C (p.Asp1518=)
|
|
|
NM_000130.5(F5):c.4590G>A (p.Glu1530=)
|
|
|
NM_000130.5(F5):c.4596G>A (p.Gln1532=)
|
|
|
NM_000130.5(F5):c.4599C>T (p.Ser1533=)
|
|
|
NM_000130.5(F5):c.4630G>T (p.Val1544Leu)
|
|
|
NM_000130.5(F5):c.4633C>A (p.Pro1545Thr)
|
rs1571572391
|
|
NM_000130.5(F5):c.4638T>C (p.Tyr1546=)
|
|
|
NM_000130.5(F5):c.4647dup (p.Tyr1550fs)
|
|
|
NM_000130.5(F5):c.4656T>C (p.Thr1552=)
|
|
|
NM_000130.5(F5):c.4662T>C (p.Val1554=)
|
|
|
NM_000130.5(F5):c.4672A>G (p.Ile1558Val)
|
|
|
NM_000130.5(F5):c.4676A>G (p.Asn1559Ser)
|
|
|
NM_000130.5(F5):c.4695C>T (p.Asp1565=)
|
|
|
NM_000130.5(F5):c.4702G>T (p.Ala1568Ser)
|
|
|
NM_000130.5(F5):c.4705_4706delinsTA (p.Ala1569Ter)
|
|
|
NM_000130.5(F5):c.4724A>G (p.Asn1575Ser)
|
|
|
NM_000130.5(F5):c.4744T>A (p.Tyr1582Asn)
|
rs1571572228
|
|
NM_000130.5(F5):c.4750A>C (p.Ile1584Leu)
|
|
|
NM_000130.5(F5):c.4755T>A (p.Ala1585=)
|
|
|
NM_000130.5(F5):c.4778A>T (p.Tyr1593Phe)
|
|
|
NM_000130.5(F5):c.4796+11T>G
|
|
|
NM_000130.5(F5):c.4796+15C>T
|
|
|
NM_000130.5(F5):c.4796+17C>T
|
|
|
NM_000130.5(F5):c.4797-12T>C
|
|
|
NM_000130.5(F5):c.4797-13A>G
|
|
|
NM_000130.5(F5):c.4797-17T>C
|
|
|
NM_000130.5(F5):c.4797-8T>G
|
|
|
NM_000130.5(F5):c.4813G>C (p.Asp1605His)
|
|
|
NM_000130.5(F5):c.4816T>G (p.Ser1606Ala)
|
|
|
NM_000130.5(F5):c.4836T>C (p.Asp1612=)
|
|
|
NM_000130.5(F5):c.4844A>G (p.Tyr1615Cys)
|
|
|
NM_000130.5(F5):c.4849A>C (p.Lys1617Gln)
|
|
|
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
|
|
|
NM_000130.5(F5):c.4872C>T (p.Leu1624=)
|
|
|
NM_000130.5(F5):c.4892G>A (p.Arg1631His)
|
|
|
NM_000130.5(F5):c.4900C>T (p.Arg1634Ter)
|
|
|
NM_000130.5(F5):c.492C>T (p.Asp164=)
|
|
|
NM_000130.5(F5):c.4959T>A (p.Asp1653Glu)
|
rs886045546
|
|
NM_000130.5(F5):c.4962_4971+3del
|
|
|
NM_000130.5(F5):c.4971+10T>C
|
|
|
NM_000130.5(F5):c.4971+11del
|
|
|
NM_000130.5(F5):c.4971+17C>G
|
|
|
NM_000130.5(F5):c.4971+186del
|
rs58033656
|
|
NM_000130.5(F5):c.4988T>C (p.Leu1663Ser)
|
|
|
NM_000130.5(F5):c.4992A>T (p.Ala1664=)
|
|
|
NM_000130.5(F5):c.5019T>C (p.His1673=)
|
|
|
NM_000130.5(F5):c.5022del (p.Leu1675fs)
|
rs2101811710
|
|
NM_000130.5(F5):c.5037dup (p.Ser1680fs)
|
rs754982088
|
|
NM_000130.5(F5):c.5043A>C (p.Ser1681=)
|
|
|
NM_000130.5(F5):c.504C>T (p.Leu168=)
|
|
|
NM_000130.5(F5):c.5058T>C (p.Tyr1686=)
|
|
|
NM_000130.5(F5):c.5060A>G (p.Glu1687Gly)
|
|
|
NM_000130.5(F5):c.5094T>C (p.Asn1698=)
|
|
|
NM_000130.5(F5):c.5100T>C (p.Val1700=)
|
|
|
NM_000130.5(F5):c.510C>T (p.His170=)
|
|
|
NM_000130.5(F5):c.5112C>T (p.Ser1704=)
|
|
|
NM_000130.5(F5):c.5142G>A (p.Glu1714=)
|
|
|
NM_000130.5(F5):c.5143C>T (p.Arg1715Ter)
|
|
|
NM_000130.5(F5):c.5144G>A (p.Arg1715Gln)
|
rs1194089741
|
|
NM_000130.5(F5):c.5151G>T (p.Gly1717=)
|
|
|
NM_000130.5(F5):c.5167T>A (p.Ser1723Thr)
|
|
|
NM_000130.5(F5):c.5208+10T>C
|
|
|
NM_000130.5(F5):c.5208+14T>C
|
|
|
NM_000130.5(F5):c.5208+16G>C
|
|
|
NM_000130.5(F5):c.5209-10G>C
|
|
|
NM_000130.5(F5):c.5209-12_5209-11del
|
rs886045545
|
|
NM_000130.5(F5):c.5209-13T>C
|
|
|
NM_000130.5(F5):c.5209-20A>T
|
|
|
NM_000130.5(F5):c.5209-2A>G
|
|
|
NM_000130.5(F5):c.5212A>G (p.Lys1738Glu)
|
|
|
NM_000130.5(F5):c.5216A>G (p.Asp1739Gly)
|
|
|
NM_000130.5(F5):c.5219T>G (p.Ile1740Ser)
|
rs1210070876
|
|
NM_000130.5(F5):c.5220T>C (p.Ile1740=)
|
|
|
NM_000130.5(F5):c.522C>T (p.Ser174=)
|
rs777533725
|
|
NM_000130.5(F5):c.5243T>A (p.Leu1748His)
|
|
|
NM_000130.5(F5):c.5260G>C (p.Gly1754Arg)
|
|
|
NM_000130.5(F5):c.5261del (p.Gly1754fs)
|
|
|
NM_000130.5(F5):c.5308G>A (p.Val1770Ile)
|
rs374815777
|
|
NM_000130.5(F5):c.5316A>C (p.Leu1772=)
|
|
|
NM_000130.5(F5):c.5325C>T (p.Thr1775=)
|
|
|
NM_000130.5(F5):c.537C>T (p.Ile179=)
|
|
|
NM_000130.5(F5):c.5383A>C (p.Thr1795Pro)
|
|
|
NM_000130.5(F5):c.5403_5404insG (p.Ser1802fs)
|
rs2101810760
|
|
NM_000130.5(F5):c.5403del (p.Lys1801fs)
|
|
|
NM_000130.5(F5):c.5403dup (p.Ser1802fs)
|
rs757917115
|
|
NM_000130.5(F5):c.5419+11C>G
|
rs6008
|
|
NM_000130.5(F5):c.5419+11C>T
|
rs6008
|
|
NM_000130.5(F5):c.5419+11_5419+12inv
|
|
|
NM_000130.5(F5):c.5419+19G>C
|
|
|
NM_000130.5(F5):c.5419+7T>C
|
|
|
NM_000130.5(F5):c.5420-14C>G
|
|
|
NM_000130.5(F5):c.5420-63_5554delinsG
|
|
|
NM_000130.5(F5):c.5453del (p.Leu1818fs)
|
|
|
NM_000130.5(F5):c.5454G>A (p.Leu1818=)
|
|
|
NM_000130.5(F5):c.5454G>C (p.Leu1818=)
|
|
|
NM_000130.5(F5):c.5477T>G (p.Val1826Gly)
|
|
|
NM_000130.5(F5):c.5502C>T (p.Gly1834=)
|
|
|
NM_000130.5(F5):c.5509C>A (p.Gln1837Lys)
|
|
|
NM_000130.5(F5):c.5511A>G (p.Gln1837=)
|
|
|
NM_000130.5(F5):c.5520C>T (p.His1840=)
|
|
|
NM_000130.5(F5):c.552G>A (p.Ser184=)
|
|
|
NM_000130.5(F5):c.5535C>T (p.His1845=)
|
|
|
NM_000130.5(F5):c.5541G>A (p.Gln1847=)
|
rs1571564181
|
|
NM_000130.5(F5):c.5544C>T (p.Thr1848=)
|
|
|
NM_000130.5(F5):c.5571C>T (p.His1857=)
|
|
|
NM_000130.5(F5):c.5594T>G (p.Leu1865Arg)
|
rs1659497927
|
|
NM_000130.5(F5):c.5599+15A>G
|
|
|
NM_000130.5(F5):c.5599+261A>G
|
|
|
NM_000130.5(F5):c.559A>C (p.Ile187Leu)
|
|
|
NM_000130.5(F5):c.5600-8del
|
|
|
NM_000130.5(F5):c.5601T>C (p.Gly1867=)
|
|
|
NM_000130.5(F5):c.5606T>G (p.Phe1869Cys)
|
|
|
NM_000130.5(F5):c.5628A>G (p.Ala1876=)
|
|
|
NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)
|
|
|
NM_000130.5(F5):c.5646G>A (p.Trp1882Ter)
|
rs1557908012
|
|
NM_000130.5(F5):c.5649C>T (p.Leu1883=)
|
|
|
NM_000130.5(F5):c.564G>A (p.Gly188=)
|
|
|
NM_000130.5(F5):c.564G>C (p.Gly188=)
|
rs1557573
|
|
NM_000130.5(F5):c.5650C>T (p.Leu1884=)
|
|
|
NM_000130.5(F5):c.5652A>C (p.Leu1884=)
|
|
|
NM_000130.5(F5):c.5658A>C (p.Thr1886=)
|
|
|
NM_000130.5(F5):c.5673C>G (p.Asn1891Lys)
|
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NM_000130.5(F5):c.5694G>A (p.Thr1898=)
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NM_000130.5(F5):c.5716+10G>A
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NM_000130.5(F5):c.5716+16T>C
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NM_000130.5(F5):c.5716+20A>G
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NM_000130.5(F5):c.5717-13_5717-12del
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NM_000130.5(F5):c.5717-14T>C
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NM_000130.5(F5):c.5717-14del
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NM_000130.5(F5):c.5717-14dup
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NM_000130.5(F5):c.5717-20T>C
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NM_000130.5(F5):c.5717-4A>C
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NM_000130.5(F5):c.5717-4A>G
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NM_000130.5(F5):c.5717-6dup
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NM_000130.5(F5):c.5717A>C (p.Asp1906Ala)
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NM_000130.5(F5):c.5721T>C (p.Cys1907=)
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rs886045543
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NM_000130.5(F5):c.5737C>T (p.Leu1913=)
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NM_000130.5(F5):c.573T>C (p.Leu191=)
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NM_000130.5(F5):c.5780A>G (p.Glu1927Gly)
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rs1659399281
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NM_000130.5(F5):c.5788+3A>G
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NM_000130.5(F5):c.5789-1G>A
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NM_000130.5(F5):c.5789-1G>T
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NM_000130.5(F5):c.5789-7A>C
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rs1659369778
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NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)
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NM_000130.5(F5):c.5835T>C (p.Tyr1945=)
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NM_000130.5(F5):c.586+12C>T
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NM_000130.5(F5):c.586+14dup
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NM_000130.5(F5):c.586+15A>G
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NM_000130.5(F5):c.586+15del
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NM_000130.5(F5):c.5863G>T (p.Ala1955Ser)
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NM_000130.5(F5):c.587-12T>C
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NM_000130.5(F5):c.587-16G>A
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NM_000130.5(F5):c.587-16_587-15del
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NM_000130.5(F5):c.587-19C>T
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NM_000130.5(F5):c.587-5C>G
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NM_000130.5(F5):c.587-5C>T
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NM_000130.5(F5):c.587-8T>C
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NM_000130.5(F5):c.5892+11A>C
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NM_000130.5(F5):c.5893-17G>A
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NM_000130.5(F5):c.5893-5T>G
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NM_000130.5(F5):c.5949C>T (p.His1983=)
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NM_000130.5(F5):c.5959T>C (p.Ser1987Pro)
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rs1174590593
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NM_000130.5(F5):c.597_598del (p.Glu200fs)
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NM_000130.5(F5):c.5982T>C (p.Tyr1994=)
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NM_000130.5(F5):c.6010T>C (p.Trp2004Arg)
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rs2101806568
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NM_000130.5(F5):c.6025G>T (p.Gly2009Trp)
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NM_000130.5(F5):c.6048+181_6048+184del
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rs79717313
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NM_000130.5(F5):c.6048+5G>T
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NM_000130.5(F5):c.6049-14C>T
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NM_000130.5(F5):c.6066A>G (p.Ser2022=)
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NM_000130.5(F5):c.6087G>A (p.Glu2029=)
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rs549481773
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NM_000130.5(F5):c.6087G>T (p.Glu2029Asp)
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NM_000130.5(F5):c.6112G>A (p.Ala2038Thr)
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NM_000130.5(F5):c.6117A>G (p.Arg2039=)
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NM_000130.5(F5):c.6122T>G (p.Ile2041Ser)
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rs1364834534
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NM_000130.5(F5):c.612G>A (p.Gln204=)
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NM_000130.5(F5):c.6150C>T (p.Asn2050=)
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NM_000130.5(F5):c.6171A>G (p.Glu2057=)
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NM_000130.5(F5):c.618G>A (p.Thr206=)
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NM_000130.5(F5):c.6193+11A>G
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NM_000130.5(F5):c.6193+15T>C
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NM_000130.5(F5):c.6193+15T>G
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NM_000130.5(F5):c.6193+16G>A
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NM_000130.5(F5):c.6193+19T>C
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NM_000130.5(F5):c.6194-19G>A
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NM_000130.5(F5):c.6194-20C>A
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rs6013
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NM_000130.5(F5):c.6194-20C>T
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NM_000130.5(F5):c.61T>C (p.Trp21Arg)
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NM_000130.5(F5):c.6205C>T (p.Pro2069Ser)
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NM_000130.5(F5):c.622G>C (p.Asp208His)
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NM_000130.5(F5):c.6230T>C (p.Ile2077Thr)
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rs2101803535
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NM_000130.5(F5):c.6233A>C (p.Glu2078Ala)
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NM_000130.5(F5):c.6258G>A (p.Ser2086=)
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NM_000130.5(F5):c.6285C>T (p.Tyr2095=)
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NM_000130.5(F5):c.6294C>T (p.Pro2098=)
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NM_000130.5(F5):c.6299G>A (p.Arg2100His)
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NM_000130.5(F5):c.6303C>G (p.Ala2101=)
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NM_000130.5(F5):c.6312T>C (p.Asn2104=)
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NM_000130.5(F5):c.633C>T (p.Ile211=)
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NM_000130.5(F5):c.6345+11C>G
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NM_000130.5(F5):c.6345+13C>G
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NM_000130.5(F5):c.6345+13C>T
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NM_000130.5(F5):c.6345+9T>C
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NM_000130.5(F5):c.6346-4A>G
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NM_000130.5(F5):c.6346-5C>T
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NM_000130.5(F5):c.6346-9T>C
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NM_000130.5(F5):c.634G>A (p.Val212Met)
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NM_000130.5(F5):c.6357_6359del (p.Asn2119del)
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NM_000130.5(F5):c.636G>A (p.Val212=)
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NM_000130.5(F5):c.6381A>G (p.Leu2127=)
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NM_000130.5(F5):c.6396G>A (p.Lys2132=)
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NM_000130.5(F5):c.639A>G (p.Leu213=)
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NM_000130.5(F5):c.6404C>T (p.Ala2135Val)
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NM_000130.5(F5):c.6417G>A (p.Gln2139=)
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NM_000130.5(F5):c.6435C>A (p.Ser2145=)
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NM_000130.5(F5):c.6435C>T (p.Ser2145=)
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NM_000130.5(F5):c.6438T>C (p.Ser2146=)
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NM_000130.5(F5):c.6451A>G (p.Lys2151Glu)
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NM_000130.5(F5):c.6489A>G (p.Glu2163=)
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NM_000130.5(F5):c.6504G>A (p.Arg2168=)
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NM_000130.5(F5):c.6516C>T (p.Ser2172=)
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NM_000130.5(F5):c.6528+17G>T
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NM_000130.5(F5):c.6528+9G>A
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NM_000130.5(F5):c.6529-11T>C
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NM_000130.5(F5):c.6529-12T>C
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NM_000130.5(F5):c.6529-65A>C
|
rs2227243
|
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NM_000130.5(F5):c.6530T>A (p.Ile2177Asn)
|
rs2101801070
|
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NM_000130.5(F5):c.6536A>C (p.Glu2179Ala)
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NM_000130.5(F5):c.653T>C (p.Phe218Ser)
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NM_000130.5(F5):c.6551C>T (p.Thr2184Ile)
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NM_000130.5(F5):c.6555A>C (p.Lys2185Asn)
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NM_000130.5(F5):c.6570C>A (p.Asn2190Lys)
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NM_000130.5(F5):c.6579C>T (p.Asn2193=)
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NM_000130.5(F5):c.6586A>G (p.Ile2196Val)
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NM_000130.5(F5):c.6629A>T (p.Gln2210Leu)
|
rs886045541
|
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NM_000130.5(F5):c.6645C>T (p.Arg2215=)
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NM_000130.5(F5):c.6651A>G (p.Glu2217=)
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NM_000130.5(F5):c.6660C>T (p.Gly2220=)
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NM_000130.5(F5):c.6662G>A (p.Cys2221Tyr)
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NM_000130.5(F5):c.681A>G (p.Ser227=)
|
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|
NM_000130.5(F5):c.696C>A (p.Tyr232Ter)
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NM_000130.5(F5):c.702C>T (p.Val234=)
|
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NM_000130.5(F5):c.705T>C (p.Asn235=)
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NM_000130.5(F5):c.708A>T (p.Gly236=)
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NM_000130.5(F5):c.711T>C (p.Tyr237=)
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NM_000130.5(F5):c.713T>A (p.Val238Glu)
|
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NM_000130.5(F5):c.72A>G (p.Gln24=)
|
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NM_000130.5(F5):c.730+137_730+139dup
|
rs58738850
|
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NM_000130.5(F5):c.730+137_730+140dup
|
rs58738850
|
|
NM_000130.5(F5):c.730+15G>T
|
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NM_000130.5(F5):c.730+316G>C
|
rs9332570
|
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NM_000130.5(F5):c.730+8G>A
|
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NM_000130.5(F5):c.731-11C>T
|
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NM_000130.5(F5):c.731-13C>T
|
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NM_000130.5(F5):c.731-15C>T
|
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NM_000130.5(F5):c.731-160dup
|
rs9332577
|
|
NM_000130.5(F5):c.731-9C>A
|
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NM_000130.5(F5):c.731-9C>G
|
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|
NM_000130.5(F5):c.731-9C>T
|
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NM_000130.5(F5):c.747C>A (p.Ala249=)
|
|
|
NM_000130.5(F5):c.750T>A (p.His250Gln)
|
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|
NM_000130.5(F5):c.773T>C (p.Leu258Pro)
|
rs975505802
|
|
NM_000130.5(F5):c.786G>A (p.Ser262=)
|
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|
NM_000130.5(F5):c.795A>G (p.Glu265=)
|
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|
NM_000130.5(F5):c.826C>T (p.Leu276=)
|
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NM_000130.5(F5):c.843T>C (p.His281=)
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NM_000130.5(F5):c.849C>G (p.Val283=)
|
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|
NM_000130.5(F5):c.84G>A (p.Ala28=)
|
|
|
NM_000130.5(F5):c.861C>A (p.Thr287=)
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NM_000130.5(F5):c.87A>G (p.Ala29=)
|
|
|
NM_000130.5(F5):c.883A>G (p.Thr295Ala)
|
|
|
NM_000130.5(F5):c.906A>G (p.Pro302=)
|
|
|
NM_000130.5(F5):c.933C>T (p.Leu311=)
|
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|
NM_000130.5(F5):c.93A>T (p.Leu31=)
|
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|
NM_000130.5(F5):c.952+10T>A
|
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|
NM_000130.5(F5):c.952+12T>C
|
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|
NM_000130.5(F5):c.952+16G>A
|
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|
NM_000130.5(F5):c.952+16G>T
|
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|
NM_000130.5(F5):c.952+18C>T
|
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|
NM_000130.5(F5):c.952+326_952+327insGCCAGAG
|
rs16684
|
|
NM_000130.5(F5):c.953-13T>C
|
|
|
NM_000130.5(F5):c.953-1G>A
|
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|
NM_000130.5(F5):c.953-20G>A
|
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|
NM_000130.5(F5):c.957G>C (p.Gly319=)
|
|
|
NM_000130.5(F5):c.966T>A (p.Ala322=)
|
|
|
NM_000130.5(F5):c.971T>C (p.Ile324Thr)
|
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|
NM_000130.5(F5):c.986G>A (p.Cys329Tyr)
|
rs574459300
|
|
NM_000130.5(F5):c.987C>A (p.Cys329Ter)
|
|
|
NM_000130.5(F5):c.993G>A (p.Lys331=)
|
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