NM_000626.4(CD79B):c.366T>C (p.Cys122=)
|
rs2070776
|
0.64196
|
NM_181523.3(PIK3R1):c.334+14A>C
|
rs706714
|
0.31124
|
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=)
|
rs706713
|
0.31073
|
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile)
|
rs3730089
|
0.22679
|
NM_020070.4(IGLL1):c.443C>T (p.Thr148Ile)
|
rs73157031
|
0.10956
|
NM_013314.4(BLNK):c.1096-11A>T
|
rs74151283
|
0.05315
|
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=)
|
rs3730090
|
0.04903
|
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=)
|
rs3729981
|
0.04683
|
NM_013314.4(BLNK):c.48G>A (p.Arg16=)
|
rs11540858
|
0.03732
|
NM_020070.4(IGLL1):c.566G>A (p.Arg189His)
|
rs8138122
|
0.03470
|
NM_020070.4(IGLL1):c.475G>A (p.Gly159Ser)
|
rs139571703
|
0.03034
|
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=)
|
rs61749601
|
0.02836
|
NM_020070.4(IGLL1):c.549C>T (p.Pro183=)
|
rs75088277
|
0.02804
|
NM_020070.4(IGLL1):c.276C>T (p.Asn92=)
|
rs116275804
|
0.02588
|
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu)
|
rs145176864
|
0.02290
|
NM_020070.4(IGLL1):c.507C>T (p.Ser169=)
|
rs74519217
|
0.02030
|
NM_013314.4(BLNK):c.195C>T (p.Ser65=)
|
rs12261820
|
0.01993
|
NM_013314.4(BLNK):c.526-5G>C
|
rs17111459
|
0.01232
|
NM_013314.4(BLNK):c.362-17T>C
|
rs118063042
|
0.00879
|
NM_000626.4(CD79B):c.312C>T (p.Leu104=)
|
rs116625909
|
0.00851
|
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser)
|
rs1064421
|
0.00740
|
NM_181523.3(PIK3R1):c.1118+11G>A
|
rs140892282
|
0.00661
|
NM_020070.4(IGLL1):c.309G>A (p.Gln103=)
|
rs114285337
|
0.00642
|
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=)
|
rs73768883
|
0.00567
|
NM_020070.4(IGLL1):c.521C>T (p.Ala174Val)
|
rs1064419
|
0.00538
|
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser)
|
rs148612299
|
0.00489
|
NM_013314.4(BLNK):c.270G>A (p.Glu90=)
|
rs17111469
|
0.00302
|
NM_000626.4(CD79B):c.118+12C>T
|
rs150429226
|
0.00242
|
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile)
|
rs143780139
|
0.00213
|
NM_020070.4(IGLL1):c.393T>C (p.Ala131=)
|
rs1064424
|
0.00182
|
NM_013314.4(BLNK):c.262G>A (p.Ala88Thr)
|
rs144903484
|
0.00175
|
NM_020070.4(IGLL1):c.67C>T (p.Arg23Cys)
|
rs114766892
|
0.00155
|
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=)
|
rs34175949
|
0.00140
|
NM_020070.4(IGLL1):c.207-9T>A
|
rs201800585
|
0.00137
|
NM_020070.4(IGLL1):c.420T>C (p.Phe140=)
|
rs1064423
|
0.00135
|
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn)
|
rs148797987
|
0.00126
|
NM_013314.4(BLNK):c.132T>A (p.Pro44=)
|
rs147203646
|
0.00125
|
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr)
|
rs149986237
|
0.00115
|
NM_020070.4(IGLL1):c.336C>T (p.Ala112=)
|
rs140494226
|
0.00113
|
NM_001783.4(CD79A):c.534C>T (p.Ala178=)
|
rs367608135
|
0.00107
|
NM_000626.4(CD79B):c.67+10C>A
|
rs112931479
|
0.00106
|
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)
|
rs139491925
|
0.00106
|
NM_020070.4(IGLL1):c.618G>A (p.Thr206=)
|
rs147356355
|
0.00106
|
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)
|
rs1064422
|
0.00104
|
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met)
|
rs112775194
|
0.00100
|
NM_001783.4(CD79A):c.371G>A (p.Arg124His)
|
rs144367487
|
0.00088
|
NM_181523.3(PIK3R1):c.427+5C>A
|
rs375394677
|
0.00088
|
NM_013314.4(BLNK):c.923T>C (p.Ile308Thr)
|
rs144266674
|
0.00084
|
NM_020070.4(IGLL1):c.342C>G (p.Pro114=)
|
rs146831457
|
0.00083
|
NM_181523.3(PIK3R1):c.1426-20T>G
|
rs201254436
|
0.00083
|
NM_013314.4(BLNK):c.88G>C (p.Gly30Arg)
|
rs143109144
|
0.00077
|
NM_181523.3(PIK3R1):c.334+12T>C
|
rs189754791
|
0.00068
|
NM_013314.4(BLNK):c.177C>T (p.Asp59=)
|
rs140266229
|
0.00064
|
NM_000626.4(CD79B):c.431-4G>A
|
rs201051431
|
0.00059
|
NM_020070.4(IGLL1):c.359C>T (p.Pro120Leu)
|
rs142384414
|
0.00059
|
NM_013314.4(BLNK):c.759G>A (p.Thr253=)
|
rs80188740
|
0.00058
|
NM_013314.4(BLNK):c.178G>A (p.Glu60Lys)
|
rs148249957
|
0.00056
|
NM_020070.4(IGLL1):c.423T>C (p.Tyr141=)
|
rs143849749
|
0.00055
|
NM_013314.4(BLNK):c.957A>C (p.Pro319=)
|
rs149590334
|
0.00043
|
NM_013314.4(BLNK):c.1021G>A (p.Val341Ile)
|
rs144826995
|
0.00041
|
NM_020070.4(IGLL1):c.546G>C (p.Thr182=)
|
rs146592375
|
0.00041
|
NM_020070.4(IGLL1):c.458G>T (p.Gly153Val)
|
rs138007109
|
0.00039
|
NM_020070.4(IGLL1):c.594C>T (p.His198=)
|
rs1064418
|
0.00038
|
NM_000626.4(CD79B):c.549+16G>A
|
rs200501913
|
0.00037
|
NM_013314.4(BLNK):c.1096-16A>T
|
rs80026049
|
0.00035
|
NM_020070.4(IGLL1):c.478G>A (p.Val160Met)
|
rs138799296
|
0.00035
|
NM_020070.4(IGLL1):c.588C>T (p.Val196=)
|
rs151337964
|
0.00033
|
NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=)
|
rs149905863
|
0.00033
|
NM_181523.3(PIK3R1):c.1020-3C>T
|
rs200653607
|
0.00031
|
NM_001783.4(CD79A):c.224C>T (p.Thr75Met)
|
rs199967393
|
0.00029
|
NM_013314.4(BLNK):c.607+15C>T
|
rs202084402
|
0.00029
|
NM_013314.4(BLNK):c.94A>T (p.Ile32Leu)
|
rs191065660
|
0.00029
|
NM_001783.4(CD79A):c.269C>T (p.Thr90Met)
|
rs137953079
|
0.00028
|
NM_181523.3(PIK3R1):c.917-3C>T
|
rs566631081
|
0.00028
|
NM_013314.4(BLNK):c.205-15C>T
|
rs199854336
|
0.00027
|
NM_013314.4(BLNK):c.115C>T (p.Leu39=)
|
rs34135972
|
0.00026
|
NM_181523.3(PIK3R1):c.917-1513G>T
|
rs144312303
|
0.00026
|
NM_013314.4(BLNK):c.628A>G (p.Thr210Ala)
|
rs587687663
|
0.00025
|
NM_001783.4(CD79A):c.134G>C (p.Ser45Thr)
|
rs199603062
|
0.00024
|
NM_001783.4(CD79A):c.341C>T (p.Ser114Leu)
|
rs145895409
|
0.00024
|
NM_013314.4(BLNK):c.525+13T>C
|
rs368519346
|
0.00024
|
NM_000626.4(CD79B):c.338G>A (p.Arg113Gln)
|
rs147236129
|
0.00022
|
NM_181523.3(PIK3R1):c.1920G>A (p.Gly640=)
|
rs61749602
|
0.00021
|
NM_001783.4(CD79A):c.498+12C>T
|
rs530163712
|
0.00020
|
NM_181523.3(PIK3R1):c.634+6T>C
|
rs199530427
|
0.00020
|
NM_000626.4(CD79B):c.468G>A (p.Thr156=)
|
rs114813228
|
0.00019
|
NM_000626.4(CD79B):c.592-6C>G
|
rs372665115
|
0.00019
|
NM_001783.4(CD79A):c.370C>T (p.Arg124Cys)
|
rs144006380
|
0.00019
|
NM_020070.4(IGLL1):c.36C>T (p.Ala12=)
|
rs556803233
|
0.00019
|
NM_181523.3(PIK3R1):c.563G>A (p.Arg188His)
|
rs148059720
|
0.00019
|
NM_000626.4(CD79B):c.550-17T>C
|
rs199521114
|
0.00018
|
NM_181523.3(PIK3R1):c.1020-19T>C
|
rs373504515
|
0.00017
|
NM_000626.4(CD79B):c.118+19C>T
|
rs200473170
|
0.00016
|
NM_001783.4(CD79A):c.312C>T (p.Tyr104=)
|
rs200667174
|
0.00016
|
NM_020070.4(IGLL1):c.111C>G (p.Gly37=)
|
rs780805400
|
0.00016
|
NM_000626.4(CD79B):c.250G>A (p.Glu84Lys)
|
rs373082402
|
0.00015
|
NM_000626.4(CD79B):c.48G>A (p.Ala16=)
|
rs758062682
|
0.00015
|
NM_020070.4(IGLL1):c.223G>A (p.Gly75Ser)
|
rs201907837
|
0.00015
|
NM_181523.3(PIK3R1):c.1170T>C (p.Tyr390=)
|
rs17847317
|
0.00015
|
NM_181523.3(PIK3R1):c.334+18G>A
|
rs181402217
|
0.00015
|
NM_000626.4(CD79B):c.286A>G (p.Met96Val)
|
rs201757742
|
0.00014
|
NM_000626.4(CD79B):c.645A>G (p.Thr215=)
|
rs375009834
|
0.00014
|
NM_001783.4(CD79A):c.467C>T (p.Ala156Val)
|
rs202097187
|
0.00014
|
NM_013314.4(BLNK):c.558T>C (p.Asp186=)
|
rs145614752
|
0.00014
|
NM_000626.4(CD79B):c.497C>T (p.Thr166Met)
|
rs147194821
|
0.00013
|
NM_001783.4(CD79A):c.320G>A (p.Arg107Gln)
|
rs143511203
|
0.00013
|
NM_013314.4(BLNK):c.315C>A (p.Thr105=)
|
rs782804653
|
0.00013
|
NM_020070.4(IGLL1):c.219G>A (p.Gln73=)
|
rs542469985
|
0.00013
|
NM_020070.4(IGLL1):c.492G>A (p.Thr164=)
|
rs148071349
|
0.00013
|
NM_000626.4(CD79B):c.303C>T (p.Asn101=)
|
rs115494685
|
0.00012
|
NM_000626.4(CD79B):c.550-8G>A
|
rs202115514
|
0.00012
|
NM_001783.4(CD79A):c.179A>G (p.Asn60Ser)
|
rs370313642
|
0.00011
|
NM_013314.4(BLNK):c.652G>A (p.Ala218Thr)
|
rs375608442
|
0.00011
|
NM_020070.4(IGLL1):c.438G>A (p.Thr146=)
|
rs377678203
|
0.00011
|
NM_181523.3(PIK3R1):c.306G>A (p.Ser102=)
|
rs538021528
|
0.00011
|
NM_181523.3(PIK3R1):c.335-17G>T
|
rs201772482
|
0.00011
|
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)
|
rs141981005
|
0.00011
|
NM_000626.4(CD79B):c.549+14G>A
|
rs371496789
|
0.00010
|
NM_013314.4(BLNK):c.34A>T (p.Ser12Cys)
|
rs201052118
|
0.00010
|
NM_020070.4(IGLL1):c.142A>G (p.Arg48Gly)
|
rs555319123
|
0.00010
|
NM_181523.3(PIK3R1):c.1017G>A (p.Ser339=)
|
rs781406681
|
0.00010
|
NM_181523.3(PIK3R1):c.1995C>T (p.Gly665=)
|
rs201618039
|
0.00010
|
NM_000626.4(CD79B):c.498G>A (p.Thr166=)
|
rs141754572
|
0.00009
|
NM_000626.4(CD79B):c.68-9A>G
|
rs374896622
|
0.00009
|
NM_013314.4(BLNK):c.45G>C (p.Leu15Phe)
|
rs138255946
|
0.00009
|
NM_020070.4(IGLL1):c.253C>T (p.Arg85Trp)
|
rs369768094
|
0.00009
|
NM_020070.4(IGLL1):c.550G>A (p.Glu184Lys)
|
rs199906829
|
0.00009
|
NM_181523.3(PIK3R1):c.249G>A (p.Ser83=)
|
rs771574512
|
0.00009
|
NM_181523.3(PIK3R1):c.534T>C (p.Asp178=)
|
rs376359156
|
0.00009
|
NM_000626.4(CD79B):c.179C>T (p.Thr60Met)
|
rs144755516
|
0.00008
|
NM_000626.4(CD79B):c.648G>A (p.Gly216=)
|
rs138535790
|
0.00008
|
NM_001783.4(CD79A):c.499-17C>T
|
rs368605906
|
0.00008
|
NM_013314.4(BLNK):c.273C>A (p.Asn91Lys)
|
rs200794859
|
0.00008
|
NM_013314.4(BLNK):c.519G>A (p.Glu173=)
|
rs587660551
|
0.00008
|
NM_020070.4(IGLL1):c.21G>C (p.Gln7His)
|
rs1044209410
|
0.00008
|
NM_020070.4(IGLL1):c.241A>G (p.Arg81Gly)
|
rs146980954
|
0.00008
|
NM_020070.4(IGLL1):c.363G>A (p.Pro121=)
|
rs146127121
|
0.00008
|
NM_181523.3(PIK3R1):c.1119-9T>C
|
rs369244066
|
0.00008
|
NM_181523.3(PIK3R1):c.1482T>C (p.Phe494=)
|
rs776598336
|
0.00008
|
NM_001783.4(CD79A):c.567+12G>A
|
rs782504307
|
0.00007
|
NM_013314.4(BLNK):c.276T>C (p.Ala92=)
|
rs782580711
|
0.00007
|
NM_013314.4(BLNK):c.320C>T (p.Pro107Leu)
|
rs375364894
|
0.00007
|
NM_020070.4(IGLL1):c.415G>A (p.Asp139Asn)
|
rs374565313
|
0.00007
|
NM_001783.4(CD79A):c.165G>A (p.Pro55=)
|
rs144847382
|
0.00006
|
NM_001783.4(CD79A):c.203G>A (p.Arg68His)
|
rs782507150
|
0.00006
|
NM_001783.4(CD79A):c.372C>T (p.Arg124=)
|
rs377615732
|
0.00006
|
NM_001783.4(CD79A):c.395C>T (p.Pro132Leu)
|
rs201206281
|
0.00006
|
NM_001783.4(CD79A):c.466G>A (p.Ala156Thr)
|
rs782150073
|
0.00006
|
NM_001783.4(CD79A):c.79+14G>A
|
rs782665303
|
0.00006
|
NM_013314.4(BLNK):c.1252-4C>T
|
rs372130465
|
0.00006
|
NM_013314.4(BLNK):c.25G>A (p.Val9Ile)
|
rs200630912
|
0.00006
|
NM_013314.4(BLNK):c.596C>G (p.Pro199Arg)
|
rs781980711
|
0.00006
|
NM_013314.4(BLNK):c.775-4A>G
|
rs368162830
|
0.00006
|
NM_020070.4(IGLL1):c.178C>T (p.Arg60Trp)
|
rs146108390
|
0.00006
|
NM_020070.4(IGLL1):c.197G>A (p.Arg66Gln)
|
rs569884568
|
0.00006
|
NM_020070.4(IGLL1):c.345G>A (p.Ser115=)
|
rs373712072
|
0.00006
|
NM_020070.4(IGLL1):c.377T>C (p.Leu126Pro)
|
rs142959335
|
0.00006
|
NM_020070.4(IGLL1):c.606_607del (p.Val203fs)
|
rs765895465
|
0.00006
|
NM_181523.3(PIK3R1):c.541G>A (p.Val181Ile)
|
rs143572224
|
0.00006
|
NM_181523.3(PIK3R1):c.825C>A (p.Phe275Leu)
|
rs377030014
|
0.00006
|
NM_181523.3(PIK3R1):c.888T>G (p.Thr296=)
|
rs1420907388
|
0.00006
|
NM_001783.4(CD79A):c.204C>T (p.Arg68=)
|
rs150297110
|
0.00005
|
NM_001783.4(CD79A):c.263A>G (p.Asn88Ser)
|
rs570673845
|
0.00005
|
NM_001783.4(CD79A):c.513C>T (p.Asn171=)
|
rs376178856
|
0.00005
|
NM_013314.4(BLNK):c.206A>G (p.Asp69Gly)
|
rs199765600
|
0.00005
|
NM_013314.4(BLNK):c.24C>T (p.Thr8=)
|
rs377038501
|
0.00005
|
NM_013314.4(BLNK):c.294G>A (p.Pro98=)
|
rs199560219
|
0.00005
|
NM_013314.4(BLNK):c.552T>C (p.Asp184=)
|
rs151100328
|
0.00005
|
NM_013314.4(BLNK):c.744C>T (p.Ala248=)
|
rs147455437
|
0.00005
|
NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys)
|
rs199529532
|
0.00005
|
NM_020070.4(IGLL1):c.135G>A (p.Ser45=)
|
rs753138972
|
0.00005
|
NM_020070.4(IGLL1):c.221G>A (p.Arg74His)
|
rs368706509
|
0.00005
|
NM_020070.4(IGLL1):c.234T>G (p.Thr78=)
|
rs148009596
|
0.00005
|
NM_020070.4(IGLL1):c.367T>C (p.Ser123Pro)
|
rs752183941
|
0.00005
|
NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu)
|
rs368742778
|
0.00005
|
NM_000626.4(CD79B):c.118+13G>A
|
rs543290517
|
0.00004
|
NM_000626.4(CD79B):c.329A>G (p.Gln110Arg)
|
rs139707827
|
0.00004
|
NM_000626.4(CD79B):c.431-3C>T
|
rs764645960
|
0.00004
|
NM_000626.4(CD79B):c.646G>C (p.Gly216Arg)
|
rs777266345
|
0.00004
|
NM_001783.4(CD79A):c.164C>T (p.Pro55Leu)
|
rs764758292
|
0.00004
|
NM_001783.4(CD79A):c.183C>T (p.Asn61=)
|
rs781792305
|
0.00004
|
NM_001783.4(CD79A):c.225G>A (p.Thr75=)
|
rs1487166711
|
0.00004
|
NM_001783.4(CD79A):c.301G>A (p.Gly101Arg)
|
rs117078414
|
0.00004
|
NM_001783.4(CD79A):c.309A>G (p.Ile103Met)
|
rs113019286
|
0.00004
|
NM_001783.4(CD79A):c.313G>A (p.Val105Met)
|
rs782661874
|
0.00004
|
NM_001783.4(CD79A):c.583G>A (p.Asp195Asn)
|
rs782658262
|
0.00004
|
NM_001783.4(CD79A):c.61C>T (p.Leu21=)
|
rs1044944143
|
0.00004
|
NM_013314.4(BLNK):c.113+9G>A
|
rs782219800
|
0.00004
|
NM_013314.4(BLNK):c.288C>T (p.Tyr96=)
|
rs782558431
|
0.00004
|
NM_013314.4(BLNK):c.527C>T (p.Ala176Val)
|
rs782568875
|
0.00004
|
NM_013314.4(BLNK):c.932C>T (p.Pro311Leu)
|
rs773027640
|
0.00004
|
NM_013314.4(BLNK):c.935-3C>T
|
rs201642415
|
0.00004
|
NM_020070.4(IGLL1):c.323-7C>T
|
rs750211329
|
0.00004
|
NM_020070.4(IGLL1):c.360G>A (p.Pro120=)
|
rs184173813
|
0.00004
|
NM_020070.4(IGLL1):c.368C>G (p.Ser123Cys)
|
rs537809626
|
0.00004
|
NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn)
|
rs765426613
|
0.00004
|
NM_020070.4(IGLL1):c.606C>T (p.Thr202=)
|
rs776330273
|
0.00004
|
NM_181523.3(PIK3R1):c.1056C>T (p.Asp352=)
|
rs144238662
|
0.00004
|
NM_181523.3(PIK3R1):c.346C>A (p.Pro116Thr)
|
rs367923318
|
0.00004
|
NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu)
|
rs774531250
|
0.00004
|
NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu)
|
rs758929943
|
0.00004
|
NM_181523.3(PIK3R1):c.552C>T (p.Asp184=)
|
rs374140006
|
0.00004
|
NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys)
|
rs547196342
|
0.00004
|
NM_181523.3(PIK3R1):c.604G>A (p.Val202Ile)
|
rs747881833
|
0.00004
|
NM_181523.3(PIK3R1):c.717G>A (p.Thr239=)
|
rs745860837
|
0.00004
|
NM_181523.3(PIK3R1):c.845A>C (p.Asn282Thr)
|
rs771365361
|
0.00004
|
NM_000626.4(CD79B):c.422G>A (p.Arg141Gln)
|
rs777737578
|
0.00003
|
NM_001783.4(CD79A):c.224C>A (p.Thr75Lys)
|
rs199967393
|
0.00003
|
NM_001783.4(CD79A):c.258C>A (p.Asp86Glu)
|
rs587778166
|
0.00003
|
NM_001783.4(CD79A):c.469G>A (p.Val157Met)
|
rs1320852597
|
0.00003
|
NM_001783.4(CD79A):c.593T>C (p.Met198Thr)
|
rs532288711
|
0.00003
|
NM_001783.4(CD79A):c.678G>A (p.Pro226=)
|
rs782316113
|
0.00003
|
NM_013314.4(BLNK):c.1196G>A (p.Arg399Gln)
|
rs267602649
|
0.00003
|
NM_013314.4(BLNK):c.275C>A (p.Ala92Asp)
|
rs201576692
|
0.00003
|
NM_013314.4(BLNK):c.321G>A (p.Pro107=)
|
rs782386441
|
0.00003
|
NM_013314.4(BLNK):c.677-6G>A
|
rs369791208
|
0.00003
|
NM_013314.4(BLNK):c.747-12T>C
|
rs782566336
|
0.00003
|
NM_013314.4(BLNK):c.902+9C>G
|
rs782684052
|
0.00003
|
NM_020070.4(IGLL1):c.134C>T (p.Ser45Leu)
|
rs758781859
|
0.00003
|
NM_020070.4(IGLL1):c.288T>G (p.His96Gln)
|
rs766149395
|
0.00003
|
NM_020070.4(IGLL1):c.327G>A (p.Gln109=)
|
rs376293773
|
0.00003
|
NM_181523.3(PIK3R1):c.108C>A (p.Ser36=)
|
rs775593894
|
0.00003
|
NM_181523.3(PIK3R1):c.1507C>A (p.Arg503=)
|
rs759347287
|
0.00003
|
NM_181523.3(PIK3R1):c.29C>T (p.Ala10Val)
|
rs767837787
|
0.00003
|
NM_181523.3(PIK3R1):c.513C>T (p.Ser171=)
|
rs781475250
|
0.00003
|
NM_181523.3(PIK3R1):c.514G>A (p.Val172Met)
|
rs112487959
|
0.00003
|
NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys)
|
rs763278796
|
0.00003
|
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser)
|
rs142439210
|
0.00003
|
NM_000626.4(CD79B):c.218A>C (p.Asn73Thr)
|
rs200126941
|
0.00002
|
NM_000626.4(CD79B):c.255T>C (p.Asn85=)
|
rs762226211
|
0.00002
|
NM_000626.4(CD79B):c.261G>A (p.Gln87=)
|
rs191761650
|
0.00002
|
NM_000626.4(CD79B):c.272T>C (p.Leu91Pro)
|
rs779639084
|
0.00002
|
NM_000626.4(CD79B):c.389C>T (p.Ser130Leu)
|
rs1389559363
|
0.00002
|
NM_000626.4(CD79B):c.408C>T (p.Cys136=)
|
rs749042260
|
0.00002
|
NM_000626.4(CD79B):c.430+10A>C
|
rs758503702
|
0.00002
|
NM_000626.4(CD79B):c.47C>T (p.Ala16Val)
|
rs114330958
|
0.00002
|
NM_000626.4(CD79B):c.636G>A (p.Thr212=)
|
rs534051167
|
0.00002
|
NM_001783.4(CD79A):c.147C>T (p.Asp49=)
|
rs782302503
|
0.00002
|
NM_001783.4(CD79A):c.259C>T (p.Pro87Ser)
|
rs1383830014
|
0.00002
|
NM_001783.4(CD79A):c.535G>A (p.Gly179Arg)
|
rs782714583
|
0.00002
|
NM_001783.4(CD79A):c.567+19T>G
|
rs1215527412
|
0.00002
|
NM_001783.4(CD79A):c.653T>A (p.Ile218Lys)
|
rs781969358
|
0.00002
|
NM_013314.4(BLNK):c.1033C>T (p.Pro345Ser)
|
rs782110816
|
0.00002
|
NM_013314.4(BLNK):c.108C>A (p.Ile36=)
|
rs782258239
|
0.00002
|
NM_013314.4(BLNK):c.1098T>G (p.Asp366Glu)
|
rs782205113
|
0.00002
|
NM_013314.4(BLNK):c.1287T>C (p.His429=)
|
rs202240472
|
0.00002
|
NM_013314.4(BLNK):c.1316G>A (p.Ser439Asn)
|
rs782445849
|
0.00002
|
NM_013314.4(BLNK):c.138T>C (p.Ser46=)
|
rs1554906562
|
0.00002
|
NM_013314.4(BLNK):c.156C>T (p.Tyr52=)
|
rs782546596
|
0.00002
|
NM_013314.4(BLNK):c.234C>T (p.His78=)
|
rs782468809
|
0.00002
|
NM_013314.4(BLNK):c.293C>T (p.Pro98Leu)
|
rs201683834
|
0.00002
|
NM_013314.4(BLNK):c.30C>T (p.Pro10=)
|
rs539394141
|
0.00002
|
NM_013314.4(BLNK):c.465C>T (p.Ala155=)
|
rs782033733
|
0.00002
|
NM_013314.4(BLNK):c.52C>T (p.Leu18Phe)
|
rs577163183
|
0.00002
|
NM_013314.4(BLNK):c.540C>T (p.Val180=)
|
rs781885345
|
0.00002
|
NM_013314.4(BLNK):c.544G>A (p.Val182Met)
|
rs141021727
|
0.00002
|
NM_013314.4(BLNK):c.651C>T (p.Pro217=)
|
rs377748729
|
0.00002
|
NM_013314.4(BLNK):c.680G>A (p.Arg227Gln)
|
rs782554120
|
0.00002
|
NM_013314.4(BLNK):c.807T>G (p.Ser269Arg)
|
rs374762276
|
0.00002
|
NM_013314.4(BLNK):c.829C>T (p.Pro277Ser)
|
rs782411291
|
0.00002
|
NM_013314.4(BLNK):c.845G>A (p.Arg282Gln)
|
rs782231780
|
0.00002
|
NM_013314.4(BLNK):c.934+12G>A
|
rs375361757
|
0.00002
|
NM_020070.4(IGLL1):c.206+3A>G
|
rs780565684
|
0.00002
|
NM_020070.4(IGLL1):c.301G>A (p.Gly101Arg)
|
rs775909535
|
0.00002
|
NM_020070.4(IGLL1):c.316G>A (p.Val106Ile)
|
rs747083240
|
0.00002
|
NM_020070.4(IGLL1):c.35C>T (p.Ala12Val)
|
rs775788164
|
0.00002
|
NM_020070.4(IGLL1):c.362C>T (p.Pro121Leu)
|
rs746843426
|
0.00002
|
NM_020070.4(IGLL1):c.426G>A (p.Pro142=)
|
rs560833188
|
0.00002
|
NM_020070.4(IGLL1):c.454G>A (p.Asp152Asn)
|
rs766752741
|
0.00002
|
NM_020070.4(IGLL1):c.495C>T (p.Pro165=)
|
rs374132554
|
0.00002
|
NM_020070.4(IGLL1):c.605C>G (p.Thr202Ser)
|
rs369307571
|
0.00002
|
NM_181523.3(PIK3R1):c.1993G>A (p.Gly665Ser)
|
rs751595991
|
0.00002
|
NM_181523.3(PIK3R1):c.202G>C (p.Asp68His)
|
rs755043940
|
0.00002
|
NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys)
|
rs762818071
|
0.00002
|
NM_181523.3(PIK3R1):c.405C>T (p.Leu135=)
|
rs758397455
|
0.00002
|
NM_181523.3(PIK3R1):c.526A>G (p.Met176Val)
|
rs200820769
|
0.00002
|
NM_181523.3(PIK3R1):c.610A>G (p.Ser204Gly)
|
rs1481771249
|
0.00002
|
NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn)
|
rs771919405
|
0.00002
|
NM_000626.4(CD79B):c.106C>T (p.Arg36Trp)
|
rs201705534
|
0.00001
|
NM_000626.4(CD79B):c.131C>T (p.Ser44Leu)
|
rs868652684
|
0.00001
|
NM_000626.4(CD79B):c.14C>T (p.Ala5Val)
|
rs748240443
|
0.00001
|
NM_000626.4(CD79B):c.15G>A (p.Ala5=)
|
rs199930415
|
0.00001
|
NM_000626.4(CD79B):c.213C>T (p.Ser71=)
|
rs756340178
|
0.00001
|
NM_000626.4(CD79B):c.351T>C (p.Asn117=)
|
rs760407063
|
0.00001
|
NM_000626.4(CD79B):c.379A>G (p.Asn127Asp)
|
rs370893971
|
0.00001
|
NM_000626.4(CD79B):c.390G>A (p.Ser130=)
|
rs1374878972
|
0.00001
|
NM_000626.4(CD79B):c.405C>T (p.Gly135=)
|
rs11555058
|
0.00001
|
NM_000626.4(CD79B):c.431-19C>T
|
rs1908012295
|
0.00001
|
NM_000626.4(CD79B):c.431-5C>T
|
rs554783299
|
0.00001
|
NM_000626.4(CD79B):c.522C>T (p.Ile174=)
|
rs115099162
|
0.00001
|
NM_000626.4(CD79B):c.549+11G>A
|
rs772302337
|
0.00001
|
NM_000626.4(CD79B):c.591G>A (p.Glu197=)
|
rs199859520
|
0.00001
|
NM_000626.4(CD79B):c.635C>T (p.Thr212Met)
|
rs149266494
|
0.00001
|
NM_000626.4(CD79B):c.67+18A>G
|
rs773415844
|
0.00001
|
NM_001783.4(CD79A):c.184G>A (p.Ala62Thr)
|
rs782467376
|
0.00001
|
NM_001783.4(CD79A):c.270G>A (p.Thr90=)
|
rs781875393
|
0.00001
|
NM_001783.4(CD79A):c.28G>A (p.Ala10Thr)
|
rs371184689
|
0.00001
|
NM_001783.4(CD79A):c.30T>C (p.Ala10=)
|
rs782716159
|
0.00001
|
NM_001783.4(CD79A):c.327G>A (p.Gln109=)
|
rs782492918
|
0.00001
|
NM_001783.4(CD79A):c.336C>T (p.Asn112=)
|
rs1600631316
|
0.00001
|
NM_001783.4(CD79A):c.358G>A (p.Gly120Ser)
|
rs782282654
|
0.00001
|
NM_001783.4(CD79A):c.373G>A (p.Val125Met)
|
rs548487112
|
0.00001
|
NM_001783.4(CD79A):c.375G>A (p.Val125=)
|
rs1600631350
|
0.00001
|
NM_001783.4(CD79A):c.377G>A (p.Arg126His)
|
rs782709381
|
0.00001
|
NM_001783.4(CD79A):c.387C>T (p.Pro129=)
|
rs1174888211
|
0.00001
|
NM_001783.4(CD79A):c.452T>C (p.Ile151Thr)
|
rs1221821073
|
0.00001
|
NM_001783.4(CD79A):c.453C>T (p.Ile151=)
|
rs1349692713
|
0.00001
|
NM_001783.4(CD79A):c.465C>T (p.Cys155=)
|
rs537675914
|
0.00001
|
NM_001783.4(CD79A):c.483G>A (p.Thr161=)
|
rs781984117
|
0.00001
|
NM_001783.4(CD79A):c.498+10C>A
|
rs782338772
|
0.00001
|
NM_001783.4(CD79A):c.498+13G>A
|
rs2074210271
|
0.00001
|
NM_001783.4(CD79A):c.54C>A (p.Leu18=)
|
rs141033669
|
0.00001
|
NM_001783.4(CD79A):c.552T>C (p.Asp184=)
|
rs1167492507
|
0.00001
|
NM_001783.4(CD79A):c.582C>T (p.Asp194=)
|
rs781967496
|
0.00001
|
NM_001783.4(CD79A):c.650A>T (p.Asn217Ile)
|
rs1027659418
|
0.00001
|
NM_001783.4(CD79A):c.677C>T (p.Pro226Leu)
|
rs1555844167
|
0.00001
|
NM_001783.4(CD79A):c.80-3C>T
|
rs781874528
|
0.00001
|
NM_001783.4(CD79A):c.8G>C (p.Gly3Ala)
|
rs782206373
|
0.00001
|
NM_013314.4(BLNK):c.1041T>C (p.Tyr347=)
|
rs587691913
|
0.00001
|
NM_013314.4(BLNK):c.1096-17T>A
|
rs199983704
|
0.00001
|
NM_013314.4(BLNK):c.1106T>A (p.Phe369Tyr)
|
rs895691306
|
0.00001
|
NM_013314.4(BLNK):c.113+4A>T
|
rs1554907782
|
0.00001
|
NM_013314.4(BLNK):c.1195C>T (p.Arg399Ter)
|
rs1554894837
|
0.00001
|
NM_013314.4(BLNK):c.1252-17A>G
|
rs781881941
|
0.00001
|
NM_013314.4(BLNK):c.1302G>T (p.Leu434Phe)
|
rs782636828
|
0.00001
|
NM_013314.4(BLNK):c.157G>A (p.Ala53Thr)
|
rs782259412
|
0.00001
|
NM_013314.4(BLNK):c.164-9C>T
|
rs587723501
|
0.00001
|
NM_013314.4(BLNK):c.196G>A (p.Asp66Asn)
|
rs1490043216
|
0.00001
|
NM_013314.4(BLNK):c.201C>G (p.Asp67Glu)
|
rs782619779
|
0.00001
|
NM_013314.4(BLNK):c.205-4G>T
|
rs782580639
|
0.00001
|
NM_013314.4(BLNK):c.211G>A (p.Asp71Asn)
|
rs782528456
|
0.00001
|
NM_013314.4(BLNK):c.237G>A (p.Ser79=)
|
rs377027662
|
0.00001
|
NM_013314.4(BLNK):c.249G>A (p.Met83Ile)
|
rs782796988
|
0.00001
|
NM_013314.4(BLNK):c.254T>C (p.Val85Ala)
|
rs587702260
|
0.00001
|
NM_013314.4(BLNK):c.265G>A (p.Glu89Lys)
|
rs1006565682
|
0.00001
|
NM_013314.4(BLNK):c.274G>A (p.Ala92Thr)
|
rs782493817
|
0.00001
|
NM_013314.4(BLNK):c.316A>C (p.Arg106=)
|
rs369391875
|
0.00001
|
NM_013314.4(BLNK):c.328C>G (p.Pro110Ala)
|
rs1554902771
|
0.00001
|
NM_013314.4(BLNK):c.333C>T (p.Ala111=)
|
rs1842316129
|
0.00001
|
NM_013314.4(BLNK):c.335T>C (p.Leu112Pro)
|
rs1434331471
|
0.00001
|
NM_013314.4(BLNK):c.361+10C>T
|
rs373205464
|
0.00001
|
NM_013314.4(BLNK):c.434A>G (p.Glu145Gly)
|
rs1554901814
|
0.00001
|
NM_013314.4(BLNK):c.49C>A (p.Gln17Lys)
|
rs782515867
|
0.00001
|
NM_013314.4(BLNK):c.509G>A (p.Gly170Asp)
|
rs1053275132
|
0.00001
|
NM_013314.4(BLNK):c.511C>T (p.Leu171Phe)
|
rs782601154
|
0.00001
|
NM_013314.4(BLNK):c.517G>A (p.Glu173Lys)
|
rs782436993
|
0.00001
|
NM_013314.4(BLNK):c.543C>T (p.Pro181=)
|
rs147302301
|
0.00001
|
NM_013314.4(BLNK):c.608-10T>C
|
rs781814871
|
0.00001
|
NM_013314.4(BLNK):c.648G>A (p.Thr216=)
|
rs782356586
|
0.00001
|
NM_013314.4(BLNK):c.659C>T (p.Pro220Leu)
|
rs1591316040
|
0.00001
|
NM_013314.4(BLNK):c.685A>G (p.Ser229Gly)
|
rs782305136
|
0.00001
|
NM_013314.4(BLNK):c.69T>C (p.His23=)
|
rs782120526
|
0.00001
|
NM_013314.4(BLNK):c.746G>A (p.Gly249Glu)
|
rs782290327
|
0.00001
|
NM_013314.4(BLNK):c.747-17C>G
|
rs1176495438
|
0.00001
|
NM_013314.4(BLNK):c.817+6A>G
|
rs782459899
|
0.00001
|
NM_013314.4(BLNK):c.903-11C>A
|
rs943669594
|
0.00001
|
NM_013314.4(BLNK):c.926C>T (p.Pro309Leu)
|
rs1177361907
|
0.00001
|
NM_013314.4(BLNK):c.939T>C (p.Phe313=)
|
rs782051821
|
0.00001
|
NM_020070.4(IGLL1):c.149T>C (p.Leu50Pro)
|
rs1211188168
|
0.00001
|
NM_020070.4(IGLL1):c.163C>T (p.Pro55Ser)
|
rs759845022
|
0.00001
|
NM_020070.4(IGLL1):c.203G>A (p.Gly68Asp)
|
rs745592691
|
0.00001
|
NM_020070.4(IGLL1):c.236G>A (p.Gly79Asp)
|
rs1330350014
|
0.00001
|
NM_020070.4(IGLL1):c.258G>A (p.Gly86=)
|
rs756305081
|
0.00001
|
NM_020070.4(IGLL1):c.285G>A (p.Thr95=)
|
rs753649042
|
0.00001
|
NM_020070.4(IGLL1):c.322+4A>T
|
rs753787644
|
0.00001
|
NM_020070.4(IGLL1):c.322+9C>T
|
rs1262115754
|
0.00001
|
NM_020070.4(IGLL1):c.323-18C>G
|
rs748268331
|
0.00001
|
NM_020070.4(IGLL1):c.323-3C>A
|
rs781180907
|
0.00001
|
NM_020070.4(IGLL1):c.338C>A (p.Thr113Asn)
|
rs765704270
|
0.00001
|
NM_020070.4(IGLL1):c.341C>T (p.Pro114Leu)
|
rs575368058
|
0.00001
|
NM_020070.4(IGLL1):c.344C>T (p.Ser115Leu)
|
rs539240472
|
0.00001
|
NM_020070.4(IGLL1):c.446G>T (p.Trp149Leu)
|
rs1284827222
|
0.00001
|
NM_020070.4(IGLL1):c.477C>T (p.Gly159=)
|
rs775680760
|
0.00001
|
NM_020070.4(IGLL1):c.522G>A (p.Ala174=)
|
rs374026526
|
0.00001
|
NM_020070.4(IGLL1):c.545C>T (p.Thr182Met)
|
rs761551186
|
0.00001
|
NM_020070.4(IGLL1):c.54C>G (p.Pro18=)
|
rs1437649021
|
0.00001
|
NM_020070.4(IGLL1):c.585G>T (p.Gln195His)
|
rs530821067
|
0.00001
|
NM_020070.4(IGLL1):c.590T>C (p.Met197Thr)
|
rs772660059
|
0.00001
|
NM_020070.4(IGLL1):c.607G>A (p.Val203Met)
|
rs771552908
|
0.00001
|
NM_020070.4(IGLL1):c.617C>T (p.Thr206Met)
|
rs758735353
|
0.00001
|
NM_181523.3(PIK3R1):c.1019+6G>C
|
rs749016701
|
0.00001
|
NM_181523.3(PIK3R1):c.1020-8C>G
|
rs770213442
|
0.00001
|
NM_181523.3(PIK3R1):c.1080G>A (p.Ala360=)
|
rs758102357
|
0.00001
|
NM_181523.3(PIK3R1):c.1118+5G>A
|
rs773388284
|
0.00001
|
NM_181523.3(PIK3R1):c.1157G>A (p.Arg386Gln)
|
rs766524768
|
0.00001
|
NM_181523.3(PIK3R1):c.1194C>T (p.Phe398=)
|
rs755664296
|
0.00001
|
NM_181523.3(PIK3R1):c.1226G>A (p.Arg409Gln)
|
rs748784250
|
0.00001
|
NM_181523.3(PIK3R1):c.1300-10A>T
|
rs377666209
|
0.00001
|
NM_181523.3(PIK3R1):c.1305A>G (p.Gln435=)
|
rs935776281
|
0.00001
|
NM_181523.3(PIK3R1):c.1332T>C (p.Ala444=)
|
rs1230274577
|
0.00001
|
NM_181523.3(PIK3R1):c.1413C>T (p.Thr471=)
|
rs1580262909
|
0.00001
|
NM_181523.3(PIK3R1):c.1568+18T>G
|
rs772367889
|
0.00001
|
NM_181523.3(PIK3R1):c.1568+7del
|
rs762253615
|
0.00001
|
NM_181523.3(PIK3R1):c.1569-17G>A
|
rs780706346
|
0.00001
|
NM_181523.3(PIK3R1):c.1569-18C>T
|
rs557466936
|
0.00001
|
NM_181523.3(PIK3R1):c.1605C>A (p.Ile535=)
|
rs1747639846
|
0.00001
|
NM_181523.3(PIK3R1):c.1653G>A (p.Lys551=)
|
rs775385667
|
0.00001
|
NM_181523.3(PIK3R1):c.168A>G (p.Leu56=)
|
rs972790556
|
0.00001
|
NM_181523.3(PIK3R1):c.1785C>T (p.Asn595=)
|
rs760360348
|
0.00001
|
NM_181523.3(PIK3R1):c.1928A>T (p.Asp643Val)
|
rs1747710716
|
0.00001
|
NM_181523.3(PIK3R1):c.2046C>T (p.Ala682=)
|
rs779578323
|
0.00001
|
NM_181523.3(PIK3R1):c.2100C>T (p.His700=)
|
rs1438509498
|
0.00001
|
NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser)
|
rs374119964
|
0.00001
|
NM_181523.3(PIK3R1):c.2139A>G (p.Thr713=)
|
rs1454328791
|
0.00001
|
NM_181523.3(PIK3R1):c.220G>A (p.Val74Ile)
|
rs755953968
|
0.00001
|
NM_181523.3(PIK3R1):c.291T>C (p.Val97=)
|
rs751812106
|
0.00001
|
NM_181523.3(PIK3R1):c.330A>G (p.Gln110=)
|
rs371843549
|
0.00001
|
NM_181523.3(PIK3R1):c.334+4A>G
|
rs1263122579
|
0.00001
|
NM_181523.3(PIK3R1):c.348G>A (p.Pro116=)
|
rs762006134
|
0.00001
|
NM_181523.3(PIK3R1):c.387G>A (p.Pro129=)
|
rs201402919
|
0.00001
|
NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met)
|
rs752552706
|
0.00001
|
NM_181523.3(PIK3R1):c.427+4A>C
|
rs1380740486
|
0.00001
|
NM_181523.3(PIK3R1):c.445C>T (p.Leu149=)
|
rs767073354
|
0.00001
|
NM_181523.3(PIK3R1):c.450C>T (p.Tyr150=)
|
rs1339790364
|
0.00001
|
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter)
|
rs1230037871
|
0.00001
|
NM_181523.3(PIK3R1):c.506C>T (p.Thr169Ile)
|
rs778443805
|
0.00001
|
NM_181523.3(PIK3R1):c.540C>T (p.His180=)
|
rs529029580
|
0.00001
|
NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr)
|
rs765008592
|
0.00001
|
NM_181523.3(PIK3R1):c.567T>C (p.Tyr189=)
|
rs778360098
|
0.00001
|
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=)
|
rs533077843
|
0.00001
|
NM_181523.3(PIK3R1):c.572T>A (p.Leu191Gln)
|
rs1477562598
|
0.00001
|
NM_181523.3(PIK3R1):c.586C>T (p.Pro196Ser)
|
rs1418066079
|
0.00001
|
NM_181523.3(PIK3R1):c.609C>T (p.Tyr203=)
|
rs1331105445
|
0.00001
|
NM_181523.3(PIK3R1):c.616A>G (p.Met206Val)
|
rs773185995
|
0.00001
|
NM_181523.3(PIK3R1):c.634+11T>C
|
rs1287288917
|
0.00001
|
NM_181523.3(PIK3R1):c.635-11T>A
|
rs745306907
|
0.00001
|
NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr)
|
rs150689648
|
0.00001
|
NM_181523.3(PIK3R1):c.739T>C (p.Phe247Leu)
|
rs1486145236
|
0.00001
|
NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn)
|
rs147303522
|
0.00001
|
NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe)
|
rs1184502086
|
0.00001
|
NM_181523.3(PIK3R1):c.768A>G (p.Lys256=)
|
rs1746797017
|
0.00001
|
NM_181523.3(PIK3R1):c.837-11C>T
|
rs1226781279
|
0.00001
|
NM_181523.3(PIK3R1):c.869T>C (p.Ile290Thr)
|
rs759526958
|
0.00001
|
NM_181523.3(PIK3R1):c.960C>T (p.Asn320=)
|
rs201809898
|
0.00001
|
NM_181523.3(PIK3R1):c.9T>C (p.Ala3=)
|
rs1447146494
|
0.00001
|
NC_000010.10:g.(?_97366499)_(98031175_?)dup
|
|
|
NC_000010.10:g.(?_97951709)_(98031175_?)dup
|
|
|
NC_000010.10:g.(?_98031089)_(98031175_?)dup
|
|
|
NC_000010.11:g.(?_96271332)_(96271418_?)del
|
|
|
NC_000019.10:g.41878996_41879009del
|
|
|
NC_000019.9:g.(?_42363988)_(42385047_?)dup
|
|
|
NC_000022.10:g.(?_23915433)_(23922397_?)dup
|
|
|
NC_000022.10:g.(?_23915453)_(23915792_?)dup
|
|
|
NC_000022.10:g.(?_23915453)_(24237293_?)del
|
|
|
NC_000022.10:g.(?_23917134)_(23922377_?)del
|
|
|
NC_000022.10:g.(?_23917134)_(23922377_?)dup
|
|
|
NC_000022.10:g.(?_23917134)_(23922397_?)dup
|
|
|
NC_000022.10:g.(?_23922152)_(23922397_?)del
|
|
|
NC_000022.11:g.(?_23574947)_(23580210_?)del
|
|
|
NM_000626.4(CD79B):c.100C>A (p.Arg34=)
|
rs1350196178
|
|
NM_000626.4(CD79B):c.102G>A (p.Arg34=)
|
rs549278202
|
|
NM_000626.4(CD79B):c.102G>C (p.Arg34=)
|
rs549278202
|
|
NM_000626.4(CD79B):c.118+15C>T
|
|
|
NM_000626.4(CD79B):c.119-7C>T
|
rs2144758434
|
|
NM_000626.4(CD79B):c.120T>A (p.Gly40=)
|
rs1598400558
|
|
NM_000626.4(CD79B):c.124G>A (p.Ala42Thr)
|
|
|
NM_000626.4(CD79B):c.132G>A (p.Ser44=)
|
|
|
NM_000626.4(CD79B):c.144G>A (p.Gln48=)
|
|
|
NM_000626.4(CD79B):c.152G>A (p.Arg51His)
|
rs1401272877
|
|
NM_000626.4(CD79B):c.160G>A (p.Ala54Thr)
|
|
|
NM_000626.4(CD79B):c.162C>T (p.Ala54=)
|
|
|
NM_000626.4(CD79B):c.165G>A (p.Arg55=)
|
rs747800058
|
|
NM_000626.4(CD79B):c.170G>C (p.Arg57Pro)
|
|
|
NM_000626.4(CD79B):c.205A>G (p.Ser69Gly)
|
rs2144758191
|
|
NM_000626.4(CD79B):c.208G>A (p.Ala70Thr)
|
rs912718113
|
|
NM_000626.4(CD79B):c.213C>G (p.Ser71=)
|
rs756340178
|
|
NM_000626.4(CD79B):c.217A>G (p.Asn73Asp)
|
|
|
NM_000626.4(CD79B):c.225C>T (p.Ser75=)
|
|
|
NM_000626.4(CD79B):c.245T>G (p.Met82Arg)
|
|
|
NM_000626.4(CD79B):c.24T>C (p.Pro8=)
|
|
|
NM_000626.4(CD79B):c.256C>A (p.Pro86Thr)
|
|
|
NM_000626.4(CD79B):c.279G>A (p.Lys93=)
|
|
|
NM_000626.4(CD79B):c.282C>T (p.Gly94=)
|
rs2144757951
|
|
NM_000626.4(CD79B):c.294G>A (p.Glu98=)
|
|
|
NM_000626.4(CD79B):c.299A>G (p.Gln100Arg)
|
|
|
NM_000626.4(CD79B):c.304G>A (p.Glu102Lys)
|
rs1908036921
|
|
NM_000626.4(CD79B):c.323C>T (p.Thr108Ile)
|
rs763307022
|
|
NM_000626.4(CD79B):c.341T>G (p.Phe114Cys)
|
rs1908032776
|
|
NM_000626.4(CD79B):c.354C>T (p.Gly118=)
|
rs2144757727
|
|
NM_000626.4(CD79B):c.362T>G (p.Phe121Cys)
|
|
|
NM_000626.4(CD79B):c.363C>T (p.Phe121=)
|
|
|
NM_000626.4(CD79B):c.364_366del (p.Cys122del)
|
|
|
NM_000626.4(CD79B):c.372G>A (p.Gln124=)
|
rs745434907
|
|
NM_000626.4(CD79B):c.381C>T (p.Asn127=)
|
rs1555598971
|
|
NM_000626.4(CD79B):c.387C>T (p.Thr129=)
|
|
|
NM_000626.4(CD79B):c.429G>A (p.Met143Ile)
|
|
|
NM_000626.4(CD79B):c.430+8C>A
|
rs780195935
|
|
NM_000626.4(CD79B):c.431-13C>T
|
|
|
NM_000626.4(CD79B):c.431-15C>A
|
|
|
NM_000626.4(CD79B):c.431-18C>G
|
|
|
NM_000626.4(CD79B):c.431-18C>T
|
|
|
NM_000626.4(CD79B):c.431-20C>A
|
|
|
NM_000626.4(CD79B):c.431-20C>T
|
|
|
NM_000626.4(CD79B):c.431-8_431-7delinsTG
|
|
|
NM_000626.4(CD79B):c.462G>A (p.Arg154=)
|
|
|
NM_000626.4(CD79B):c.467C>T (p.Thr156Met)
|
rs2144756917
|
|
NM_000626.4(CD79B):c.480T>A (p.Gly160=)
|
|
|
NM_000626.4(CD79B):c.48G>C (p.Ala16=)
|
rs758062682
|
|
NM_000626.4(CD79B):c.501G>A (p.Leu167=)
|
|
|
NM_000626.4(CD79B):c.523G>A (p.Val175Met)
|
|
|
NM_000626.4(CD79B):c.534C>T (p.Phe178=)
|
|
|
NM_000626.4(CD79B):c.542T>A (p.Leu181Gln)
|
rs1908002118
|
|
NM_000626.4(CD79B):c.547A>G (p.Lys183Glu)
|
rs1908001684
|
|
NM_000626.4(CD79B):c.549+11G>T
|
rs772302337
|
|
NM_000626.4(CD79B):c.549+11del
|
rs750893342
|
|
NM_000626.4(CD79B):c.549+13C>T
|
|
|
NM_000626.4(CD79B):c.549+17G>T
|
|
|
NM_000626.4(CD79B):c.549+20A>G
|
|
|
NM_000626.4(CD79B):c.549+9G>A
|
|
|
NM_000626.4(CD79B):c.549+9G>C
|
|
|
NM_000626.4(CD79B):c.550-19C>A
|
|
|
NM_000626.4(CD79B):c.550-6C>T
|
rs748612433
|
|
NM_000626.4(CD79B):c.552T>A (p.Asp184Glu)
|
rs1598399769
|
|
NM_000626.4(CD79B):c.557G>A (p.Ser186Asn)
|
rs1290989439
|
|
NM_000626.4(CD79B):c.563_564delinsGG (p.Ala188Gly)
|
rs2144755949
|
|
NM_000626.4(CD79B):c.567C>T (p.Gly189=)
|
rs143511067
|
|
NM_000626.4(CD79B):c.571G>C (p.Glu191Gln)
|
|
|
NM_000626.4(CD79B):c.584C>G (p.Thr195Ser)
|
|
|
NM_000626.4(CD79B):c.585C>G (p.Thr195=)
|
rs1907978089
|
|
NM_000626.4(CD79B):c.591+13G>A
|
rs371044426
|
|
NM_000626.4(CD79B):c.591+16G>A
|
|
|
NM_000626.4(CD79B):c.591+4A>T
|
rs2144755829
|
|
NM_000626.4(CD79B):c.621T>C (p.Tyr207=)
|
|
|
NM_000626.4(CD79B):c.641G>A (p.Arg214Gln)
|
|
|
NM_000626.4(CD79B):c.664G>A (p.Val222Ile)
|
rs144588938
|
|
NM_000626.4(CD79B):c.669T>C (p.Gly223=)
|
|
|
NM_000626.4(CD79B):c.67+14G>A
|
|
|
NM_000626.4(CD79B):c.67+16C>T
|
|
|
NM_000626.4(CD79B):c.67+17G>C
|
rs373437028
|
|
NM_000626.4(CD79B):c.67+19G>A
|
|
|
NM_000626.4(CD79B):c.67+3A>G
|
rs1335363614
|
|
NM_000626.4(CD79B):c.67+9C>A
|
rs2144762223
|
|
NM_000626.4(CD79B):c.672G>A (p.Glu224=)
|
|
|
NM_000626.4(CD79B):c.678A>C (p.Pro226=)
|
rs2144755338
|
|
NM_000626.4(CD79B):c.679G>A (p.Gly227Ser)
|
rs2144755333
|
|
NM_000626.4(CD79B):c.68-5A>G
|
rs943927329
|
|
NM_000626.4(CD79B):c.68-7C>T
|
|
|
NM_000626.4(CD79B):c.75A>C (p.Pro25=)
|
rs2144760436
|
|
NM_000626.4(CD79B):c.92C>G (p.Ser31Trp)
|
rs750544228
|
|
NM_000626.4(CD79B):c.93G>A (p.Ser31=)
|
|
|
NM_000626.4(CD79B):c.93GGA[1] (p.Glu32del)
|
rs780720849
|
|
NM_000626.4(CD79B):c.94G>C (p.Glu32Gln)
|
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|
NM_001783.4(CD79A):c.108C>T (p.His36=)
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|
NM_001783.4(CD79A):c.120A>C (p.Ala40=)
|
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|
NM_001783.4(CD79A):c.128T>A (p.Met43Lys)
|
rs782421590
|
|
NM_001783.4(CD79A):c.12T>G (p.Gly4=)
|
|
|
NM_001783.4(CD79A):c.137T>C (p.Leu46Pro)
|
rs2074204859
|
|
NM_001783.4(CD79A):c.150C>T (p.Ala50=)
|
|
|
NM_001783.4(CD79A):c.182A>T (p.Asn61Ile)
|
rs2074205317
|
|
NM_001783.4(CD79A):c.188A>G (p.Asn63Ser)
|
rs151224661
|
|
NM_001783.4(CD79A):c.188A>T (p.Asn63Ile)
|
|
|
NM_001783.4(CD79A):c.189C>T (p.Asn63=)
|
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|
NM_001783.4(CD79A):c.190G>A (p.Val64Ile)
|
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|
NM_001783.4(CD79A):c.198G>A (p.Trp66Ter)
|
rs1568801716
|
|
NM_001783.4(CD79A):c.202C>T (p.Arg68Cys)
|
rs782657641
|
|
NM_001783.4(CD79A):c.210C>A (p.Leu70=)
|
rs2074205615
|
|
NM_001783.4(CD79A):c.21C>T (p.Val7=)
|
rs782746615
|
|
NM_001783.4(CD79A):c.242T>C (p.Leu81Ser)
|
|
|
NM_001783.4(CD79A):c.24C>T (p.Leu8=)
|
rs2123301467
|
|
NM_001783.4(CD79A):c.253G>A (p.Glu85Lys)
|
|
|
NM_001783.4(CD79A):c.309A>C (p.Ile103=)
|
rs113019286
|
|
NM_001783.4(CD79A):c.310T>C (p.Tyr104His)
|
rs2123304241
|
|
NM_001783.4(CD79A):c.335A>G (p.Asn112Ser)
|
|
|
NM_001783.4(CD79A):c.338A>G (p.Glu113Gly)
|
|
|
NM_001783.4(CD79A):c.357C>T (p.Cys119=)
|
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|
NM_001783.4(CD79A):c.379+19G>T
|
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|
NM_001783.4(CD79A):c.379+1G>A
|
rs1555843601
|
|
NM_001783.4(CD79A):c.379+23dup
|
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|
NM_001783.4(CD79A):c.379+3G>A
|
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NM_001783.4(CD79A):c.380-14C>A
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NM_001783.4(CD79A):c.380-8C>T
|
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|
NM_001783.4(CD79A):c.384G>A (p.Pro128=)
|
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|
NM_001783.4(CD79A):c.394C>A (p.Pro132Thr)
|
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|
NM_001783.4(CD79A):c.400C>T (p.Leu134=)
|
rs2123304949
|
|
NM_001783.4(CD79A):c.416G>A (p.Gly139Asp)
|
|
|
NM_001783.4(CD79A):c.419C>T (p.Thr140Ile)
|
rs148797987
|
|
NM_001783.4(CD79A):c.427C>A (p.Arg143=)
|
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NM_001783.4(CD79A):c.428G>A (p.Arg143Gln)
|
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NM_001783.4(CD79A):c.442G>A (p.Glu148Lys)
|
rs2074209426
|
|
NM_001783.4(CD79A):c.463_464delinsCT (p.Cys155Leu)
|
|
|
NM_001783.4(CD79A):c.466_467delinsTT (p.Ala156Leu)
|
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|
NM_001783.4(CD79A):c.493T>C (p.Phe165Leu)
|
|
|
NM_001783.4(CD79A):c.498+6C>A
|
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NM_001783.4(CD79A):c.498G>C (p.Arg166Ser)
|
rs2123305225
|
|
NM_001783.4(CD79A):c.499-10A>C
|
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NM_001783.4(CD79A):c.499-14A>C
|
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NM_001783.4(CD79A):c.499-15C>T
|
rs2123307362
|
|
NM_001783.4(CD79A):c.499-18C>A
|
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NM_001783.4(CD79A):c.499-18C>T
|
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NM_001783.4(CD79A):c.499-1G>A
|
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NM_001783.4(CD79A):c.499-8C>T
|
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|
NM_001783.4(CD79A):c.502C>G (p.Arg168Gly)
|
rs1555844064
|
|
NM_001783.4(CD79A):c.503G>A (p.Arg168Gln)
|
|
|
NM_001783.4(CD79A):c.514G>A (p.Glu172Lys)
|
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|
NM_001783.4(CD79A):c.519G>A (p.Lys173=)
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NM_001783.4(CD79A):c.51C>A (p.Leu17=)
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NM_001783.4(CD79A):c.523G>A (p.Gly175Arg)
|
rs1016097078
|
|
NM_001783.4(CD79A):c.525G>T (p.Gly175=)
|
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NM_001783.4(CD79A):c.561T>G (p.Leu187=)
|
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NM_001783.4(CD79A):c.567+15G>C
|
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NM_001783.4(CD79A):c.567+20_567+21delinsAT
|
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NM_001783.4(CD79A):c.568-16C>T
|
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NM_001783.4(CD79A):c.568-6T>C
|
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NM_001783.4(CD79A):c.610C>G (p.Arg204Gly)
|
rs782417731
|
|
NM_001783.4(CD79A):c.611G>A (p.Arg204Gln)
|
rs782624281
|
|
NM_001783.4(CD79A):c.624C>T (p.Gly208=)
|
rs2123308093
|
|
NM_001783.4(CD79A):c.643A>G (p.Ser215Gly)
|
rs550589218
|
|
NM_001783.4(CD79A):c.64T>A (p.Ser22Thr)
|
rs1600629998
|
|
NM_001783.4(CD79A):c.664C>T (p.Gln222Ter)
|
|
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NM_001783.4(CD79A):c.677C>A (p.Pro226Gln)
|
rs1555844167
|
|
NM_001783.4(CD79A):c.79+6T>C
|
|
|
NM_001783.4(CD79A):c.79+8G>A
|
|
|
NM_001783.4(CD79A):c.80-12G>A
|
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NM_001783.4(CD79A):c.80G>T (p.Gly27Val)
|
rs2074204427
|
|
NM_013314.3(BLNK):c.114delG
|
rs1554906579
|
|
NM_013314.4(BLNK):c.1011+14T>C
|
|
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NM_013314.4(BLNK):c.1011+19A>C
|
|
|
NM_013314.4(BLNK):c.1012-11C>T
|
|
|
NM_013314.4(BLNK):c.1012-4A>G
|
|
|
NM_013314.4(BLNK):c.1020C>T (p.Gly340=)
|
rs375535673
|
|
NM_013314.4(BLNK):c.1027T>G (p.Cys343Gly)
|
rs2133946404
|
|
NM_013314.4(BLNK):c.1031del (p.Lys344fs)
|
rs2133946382
|
|
NM_013314.4(BLNK):c.1096-17del
|
rs201454460
|
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NM_013314.4(BLNK):c.1096-6A>T
|
|
|
NM_013314.4(BLNK):c.1096-9dup
|
|
|
NM_013314.4(BLNK):c.1110T>C (p.Leu370=)
|
rs2133931930
|
|
NM_013314.4(BLNK):c.1112T>C (p.Ile371Thr)
|
|
|
NM_013314.4(BLNK):c.1114C>T (p.Arg372Trp)
|
rs782566012
|
|
NM_013314.4(BLNK):c.1115G>A (p.Arg372Gln)
|
rs782570122
|
|
NM_013314.4(BLNK):c.1121G>A (p.Ser374Asn)
|
|
|
NM_013314.4(BLNK):c.1125T>A (p.Ser375=)
|
rs1591292772
|
|
NM_013314.4(BLNK):c.113+10C>T
|
|
|
NM_013314.4(BLNK):c.113+14T>C
|
|
|
NM_013314.4(BLNK):c.113+2T>G
|
rs2134092983
|
|
NM_013314.4(BLNK):c.114-11G>T
|
|
|
NM_013314.4(BLNK):c.1173G>A (p.Lys391=)
|
|
|
NM_013314.4(BLNK):c.1195C>A (p.Arg399=)
|
|
|
NM_013314.4(BLNK):c.1230C>A (p.Gly410=)
|
rs1591292563
|
|
NM_013314.4(BLNK):c.1244G>C (p.Gly415Ala)
|
rs1466156518
|
|
NM_013314.4(BLNK):c.1251+13T>C
|
|
|
NM_013314.4(BLNK):c.1252-3T>C
|
|
|
NM_013314.4(BLNK):c.1276A>T (p.Ile426Phe)
|
rs2083340048
|
|
NM_013314.4(BLNK):c.1281G>A (p.Arg427=)
|
rs2083339779
|
|
NM_013314.4(BLNK):c.1291C>A (p.His431Asn)
|
|
|
NM_013314.4(BLNK):c.1303G>A (p.Val435Ile)
|
|
|
NM_013314.4(BLNK):c.1313A>G (p.Asp438Gly)
|
rs2133908110
|
|
NM_013314.4(BLNK):c.1321A>T (p.Asn441Tyr)
|
|
|
NM_013314.4(BLNK):c.1351T>A (p.Tyr451Asn)
|
|
|
NM_013314.4(BLNK):c.1351T>C (p.Tyr451His)
|
rs782547336
|
|
NM_013314.4(BLNK):c.1369T>C (p.Ter457Gln)
|
|
|
NM_013314.4(BLNK):c.144T>C (p.Pro48=)
|
rs2134080471
|
|
NM_013314.4(BLNK):c.159T>C (p.Ala53=)
|
|
|
NM_013314.4(BLNK):c.163+18T>C
|
|
|
NM_013314.4(BLNK):c.164-15C>T
|
|
|
NM_013314.4(BLNK):c.171T>C (p.Pro57=)
|
rs727852
|
|
NM_013314.4(BLNK):c.171_172inv (p.Ala58Thr)
|
|
|
NM_013314.4(BLNK):c.184G>C (p.Glu62Gln)
|
|
|
NM_013314.4(BLNK):c.191G>C (p.Trp64Ser)
|
rs1842471945
|
|
NM_013314.4(BLNK):c.198T>A (p.Asp66Glu)
|
rs587721918
|
|
NM_013314.4(BLNK):c.203T>C (p.Phe68Ser)
|
|
|
NM_013314.4(BLNK):c.204+10T>A
|
|
|
NM_013314.4(BLNK):c.204+9T>C
|
|
|
NM_013314.4(BLNK):c.208A>G (p.Ser70Gly)
|
rs2134032306
|
|
NM_013314.4(BLNK):c.210C>G (p.Ser70Arg)
|
rs138625467
|
|
NM_013314.4(BLNK):c.210C>T (p.Ser70=)
|
rs138625467
|
|
NM_013314.4(BLNK):c.230A>G (p.Glu77Gly)
|
rs2134032203
|
|
NM_013314.4(BLNK):c.248T>C (p.Met83Thr)
|
|
|
NM_013314.4(BLNK):c.24C>A (p.Thr8=)
|
rs377038501
|
|
NM_013314.4(BLNK):c.252C>T (p.Tyr84=)
|
|
|
NM_013314.4(BLNK):c.253G>A (p.Val85Met)
|
|
|
NM_013314.4(BLNK):c.255G>A (p.Val85=)
|
rs1842320560
|
|
NM_013314.4(BLNK):c.255G>C (p.Val85=)
|
rs1842320560
|
|
NM_013314.4(BLNK):c.262G>T (p.Ala88Ser)
|
|
|
NM_013314.4(BLNK):c.264C>G (p.Ala88=)
|
rs374291940
|
|
NM_013314.4(BLNK):c.26del (p.Val9fs)
|
|
|
NM_013314.4(BLNK):c.284G>A (p.Ser95Asn)
|
rs1842318615
|
|
NM_013314.4(BLNK):c.292C>G (p.Pro98Ala)
|
|
|
NM_013314.4(BLNK):c.302T>C (p.Val101Ala)
|
rs2134031807
|
|
NM_013314.4(BLNK):c.315C>G (p.Thr105=)
|
|
|
NM_013314.4(BLNK):c.315C>T (p.Thr105=)
|
rs782804653
|
|
NM_013314.4(BLNK):c.334C>T (p.Leu112=)
|
|
|
NM_013314.4(BLNK):c.339C>A (p.Pro113=)
|
|
|
NM_013314.4(BLNK):c.342C>T (p.Phe114=)
|
|
|
NM_013314.4(BLNK):c.351C>T (p.Gly117=)
|
|
|
NM_013314.4(BLNK):c.361+15A>G
|
rs2134031482
|
|
NM_013314.4(BLNK):c.361+8C>T
|
|
|
NM_013314.4(BLNK):c.361+9C>G
|
|
|
NM_013314.4(BLNK):c.368G>T (p.Arg123Leu)
|
rs781854815
|
|
NM_013314.4(BLNK):c.377A>G (p.Gln126Arg)
|
rs1313837045
|
|
NM_013314.4(BLNK):c.395T>G (p.Phe132Cys)
|
rs2134020915
|
|
NM_013314.4(BLNK):c.419C>T (p.Pro140Leu)
|
rs2134020896
|
|
NM_013314.4(BLNK):c.456C>T (p.Thr152=)
|
|
|
NM_013314.4(BLNK):c.460C>G (p.Pro154Ala)
|
rs2084259658
|
|
NM_013314.4(BLNK):c.463G>T (p.Ala155Ser)
|
rs201861123
|
|
NM_013314.4(BLNK):c.479A>G (p.Gln160Arg)
|
rs781989662
|
|
NM_013314.4(BLNK):c.48-13T>G
|
|
|
NM_013314.4(BLNK):c.48-18T>A
|
|
|
NM_013314.4(BLNK):c.48-5T>C
|
rs2134093205
|
|
NM_013314.4(BLNK):c.48-5dup
|
|
|
NM_013314.4(BLNK):c.48-9T>A
|
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|
NM_013314.4(BLNK):c.48-9T>C
|
|
|
NM_013314.4(BLNK):c.484C>T (p.Pro162Ser)
|
|
|
NM_013314.4(BLNK):c.521A>T (p.Asp174Val)
|
|
|
NM_013314.4(BLNK):c.525+10_525+11insG
|
|
|
NM_013314.4(BLNK):c.526-13G>A
|
|
|
NM_013314.4(BLNK):c.526-22_526-19del
|
rs774986411
|
|
NM_013314.4(BLNK):c.526-5G>A
|
|
|
NM_013314.4(BLNK):c.526-6T>G
|
rs1591317634
|
|
NM_013314.4(BLNK):c.526-7C>T
|
|
|
NM_013314.4(BLNK):c.526-8T>A
|
|
|
NM_013314.4(BLNK):c.571C>A (p.His191Asn)
|
rs2134002149
|
|
NM_013314.4(BLNK):c.585C>T (p.Ser195=)
|
rs2134002109
|
|
NM_013314.4(BLNK):c.596C>T (p.Pro199Leu)
|
rs781980711
|
|
NM_013314.4(BLNK):c.5A>T (p.Asp2Val)
|
|
|
NM_013314.4(BLNK):c.607+13C>T
|
|
|
NM_013314.4(BLNK):c.607+14G>A
|
|
|
NM_013314.4(BLNK):c.607+5G>C
|
rs782348426
|
|
NM_013314.4(BLNK):c.608-15_608-14insCG
|
|
|
NM_013314.4(BLNK):c.608-16C>T
|
|
|
NM_013314.4(BLNK):c.608-22CA[5]
|
rs200821324
|
|
NM_013314.4(BLNK):c.608-7G>A
|
rs2084041337
|
|
NM_013314.4(BLNK):c.611C>A (p.Pro204His)
|
rs2084041054
|
|
NM_013314.4(BLNK):c.612C>T (p.Pro204=)
|
|
|
NM_013314.4(BLNK):c.616G>A (p.Val206Met)
|
rs1297812434
|
|
NM_013314.4(BLNK):c.616_618del (p.Val206del)
|
|
|
NM_013314.4(BLNK):c.646A>G (p.Thr216Ala)
|
rs1307642715
|
|
NM_013314.4(BLNK):c.647C>T (p.Thr216Met)
|
|
|
NM_013314.4(BLNK):c.656C>G (p.Ser219Cys)
|
|
|
NM_013314.4(BLNK):c.676+9T>C
|
|
|
NM_013314.4(BLNK):c.677-12A>G
|
|
|
NM_013314.4(BLNK):c.677-15T>G
|
|
|
NM_013314.4(BLNK):c.677-16G>A
|
|
|
NM_013314.4(BLNK):c.677-3C>T
|
rs2133983445
|
|
NM_013314.4(BLNK):c.718G>A (p.Ala240Thr)
|
|
|
NM_013314.4(BLNK):c.719C>T (p.Ala240Val)
|
|
|
NM_013314.4(BLNK):c.71A>G (p.Asp24Gly)
|
rs1554907802
|
|
NM_013314.4(BLNK):c.720T>G (p.Ala240=)
|
|
|
NM_013314.4(BLNK):c.726A>G (p.Pro242=)
|
rs2133983317
|
|
NM_013314.4(BLNK):c.732G>C (p.Pro244=)
|
rs782456480
|
|
NM_013314.4(BLNK):c.740G>A (p.Arg247Gln)
|
|
|
NM_013314.4(BLNK):c.745G>A (p.Gly249Arg)
|
|
|
NM_013314.4(BLNK):c.746+8C>G
|
|
|
NM_013314.4(BLNK):c.747-2A>G
|
|
|
NM_013314.4(BLNK):c.758C>T (p.Thr253Met)
|
|
|
NM_013314.4(BLNK):c.762A>G (p.Thr254=)
|
|
|
NM_013314.4(BLNK):c.775-12del
|
|
|
NM_013314.4(BLNK):c.775-18T>G
|
|
|
NM_013314.4(BLNK):c.775-3T>C
|
|
|
NM_013314.4(BLNK):c.780A>G (p.Pro260=)
|
rs1554897574
|
|
NM_013314.4(BLNK):c.812G>A (p.Cys271Tyr)
|
rs782250398
|
|
NM_013314.4(BLNK):c.815A>C (p.Glu272Ala)
|
|
|
NM_013314.4(BLNK):c.817+16T>C
|
|
|
NM_013314.4(BLNK):c.817+3dup
|
rs1301850552
|
|
NM_013314.4(BLNK):c.818-12T>A
|
|
|
NM_013314.4(BLNK):c.81C>T (p.Asn27=)
|
|
|
NM_013314.4(BLNK):c.835G>C (p.Glu279Gln)
|
|
|
NM_013314.4(BLNK):c.839G>A (p.Arg280His)
|
|
|
NM_013314.4(BLNK):c.858C>T (p.His286=)
|
rs2133965694
|
|
NM_013314.4(BLNK):c.869C>T (p.Ala290Val)
|
|
|
NM_013314.4(BLNK):c.873G>T (p.Val291=)
|
rs2083745776
|
|
NM_013314.4(BLNK):c.881C>T (p.Pro294Leu)
|
|
|
NM_013314.4(BLNK):c.893C>T (p.Pro298Leu)
|
|
|
NM_013314.4(BLNK):c.896C>T (p.Ala299Val)
|
|
|
NM_013314.4(BLNK):c.902+15C>G
|
|
|
NM_013314.4(BLNK):c.903-10T>C
|
rs2083731898
|
|
NM_013314.4(BLNK):c.903-19C>T
|
|
|
NM_013314.4(BLNK):c.903-7C>T
|
|
|
NM_013314.4(BLNK):c.903A>G (p.Lys301=)
|
|
|
NM_013314.4(BLNK):c.926C>A (p.Pro309His)
|
rs1177361907
|
|
NM_013314.4(BLNK):c.934+11C>A
|
|
|
NM_013314.4(BLNK):c.934+8C>T
|
|
|
NM_013314.4(BLNK):c.948G>A (p.Gly316=)
|
|
|
NM_013314.4(BLNK):c.970C>T (p.Pro324Ser)
|
rs2083618670
|
|
NM_013314.4(BLNK):c.987A>G (p.Ser329=)
|
|
|
NM_013314.4(BLNK):c.999T>C (p.Thr333=)
|
|
|
NM_020070.4(IGLL1):c.102A>G (p.Val34=)
|
|
|
NM_020070.4(IGLL1):c.117G>A (p.Leu39=)
|
|
|
NM_020070.4(IGLL1):c.119G>A (p.Arg40His)
|
|
|
NM_020070.4(IGLL1):c.119G>T (p.Arg40Leu)
|
|
|
NM_020070.4(IGLL1):c.123A>G (p.Pro41=)
|
|
|
NM_020070.4(IGLL1):c.14C>G (p.Thr5Arg)
|
rs2123706017
|
|
NM_020070.4(IGLL1):c.152_158dup (p.Ala54fs)
|
rs1925262225
|
|
NM_020070.4(IGLL1):c.157G>T (p.Gly53Ter)
|
rs1256867431
|
|
NM_020070.4(IGLL1):c.161C>A (p.Ala54Asp)
|
|
|
NM_020070.4(IGLL1):c.161_169dup (p.Ala54_Gly56dup)
|
rs2123705600
|
|
NM_020070.4(IGLL1):c.163_164dup (p.Gly56fs)
|
|
|
NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly)
|
rs146108390
|
|
NM_020070.4(IGLL1):c.179G>A (p.Arg60Gln)
|
|
|
NM_020070.4(IGLL1):c.17G>T (p.Gly6Val)
|
rs1460659708
|
|
NM_020070.4(IGLL1):c.180G>A (p.Arg60=)
|
|
|
NM_020070.4(IGLL1):c.196C>G (p.Arg66Gly)
|
|
|
NM_020070.4(IGLL1):c.196C>T (p.Arg66Trp)
|
|
|
NM_020070.4(IGLL1):c.197G>T (p.Arg66Leu)
|
rs569884568
|
|
NM_020070.4(IGLL1):c.206G>C (p.Arg69Thr)
|
|
|
NM_020070.4(IGLL1):c.207-3C>G
|
|
|
NM_020070.4(IGLL1):c.207-4G>T
|
|
|
NM_020070.4(IGLL1):c.207-8C>T
|
rs1459622736
|
|
NM_020070.4(IGLL1):c.210C>T (p.Phe70=)
|
rs2123698333
|
|
NM_020070.4(IGLL1):c.213G>A (p.Leu71=)
|
|
|
NM_020070.4(IGLL1):c.216C>T (p.Leu72=)
|
rs2123698319
|
|
NM_020070.4(IGLL1):c.220C>T (p.Arg74Cys)
|
|
|
NM_020070.4(IGLL1):c.222C>T (p.Arg74=)
|
rs111509516
|
|
NM_020070.4(IGLL1):c.232A>C (p.Thr78Pro)
|
rs2123698257
|
|
NM_020070.4(IGLL1):c.234T>C (p.Thr78=)
|
rs148009596
|
|
NM_020070.4(IGLL1):c.238C>G (p.Pro80Ala)
|
rs766027584
|
|
NM_020070.4(IGLL1):c.252C>T (p.Pro84=)
|
|
|
NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln)
|
rs200178386
|
|
NM_020070.4(IGLL1):c.254G>T (p.Arg85Leu)
|
rs200178386
|
|
NM_020070.4(IGLL1):c.258del (p.Gln88fs)
|
rs532338576
|
|
NM_020070.4(IGLL1):c.263A>C (p.Gln88Pro)
|
|
|
NM_020070.4(IGLL1):c.266C>T (p.Ser89Phe)
|
|
|
NM_020070.4(IGLL1):c.267C>T (p.Ser89=)
|
|
|
NM_020070.4(IGLL1):c.26dup (p.Leu10fs)
|
rs1569072706
|
|
NM_020070.4(IGLL1):c.272A>G (p.His91Arg)
|
|
|
NM_020070.4(IGLL1):c.281_284dup (p.His96fs)
|
|
|
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys)
|
rs116041505
|
|
NM_020070.4(IGLL1):c.284C>T (p.Thr95Met)
|
|
|
NM_020070.4(IGLL1):c.286C>T (p.His96Tyr)
|
|
|
NM_020070.4(IGLL1):c.300C>T (p.Ser100=)
|
rs115303391
|
|
NM_020070.4(IGLL1):c.306C>T (p.Thr102=)
|
|
|
NM_020070.4(IGLL1):c.315C>T (p.Thr105=)
|
rs2275975
|
|
NM_020070.4(IGLL1):c.318T>C (p.Val106=)
|
|
|
NM_020070.4(IGLL1):c.321A>G (p.Leu107=)
|
|
|
NM_020070.4(IGLL1):c.322+15C>T
|
rs2123698065
|
|
NM_020070.4(IGLL1):c.322+3_322+6del
|
rs1184765604
|
|
NM_020070.4(IGLL1):c.322+4A>G
|
rs753787644
|
|
NM_020070.4(IGLL1):c.322+8G>A
|
rs1924982404
|
|
NM_020070.4(IGLL1):c.323-20C>T
|
|
|
NM_020070.4(IGLL1):c.323G>A (p.Ser108Asn)
|
rs1025960361
|
|
NM_020070.4(IGLL1):c.335C>A (p.Ala112Asp)
|
rs2123696242
|
|
NM_020070.4(IGLL1):c.356T>A (p.Phe119Tyr)
|
|
|
NM_020070.4(IGLL1):c.359C>A (p.Pro120Gln)
|
|
|
NM_020070.4(IGLL1):c.35C>A (p.Ala12Asp)
|
|
|
NM_020070.4(IGLL1):c.379del (p.Gln127fs)
|
rs1924897060
|
|
NM_020070.4(IGLL1):c.385A>C (p.Asn129His)
|
rs1304505064
|
|
NM_020070.4(IGLL1):c.392C>T (p.Ala131Val)
|
|
|
NM_020070.4(IGLL1):c.399G>A (p.Leu133=)
|
|
|
NM_020070.4(IGLL1):c.409A>G (p.Met137Val)
|
|
|
NM_020070.4(IGLL1):c.415_418delinsAAC (p.Asp139fs)
|
|
|
NM_020070.4(IGLL1):c.438G>C (p.Thr146=)
|
rs377678203
|
|
NM_020070.4(IGLL1):c.444C>G (p.Thr148=)
|
|
|
NM_020070.4(IGLL1):c.45G>A (p.Glu15=)
|
rs1023913513
|
|
NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser)
|
rs1602287119
|
|
NM_020070.4(IGLL1):c.465del (p.Ile156fs)
|
|
|
NM_020070.4(IGLL1):c.468C>A (p.Ile156=)
|
rs536839343
|
|
NM_020070.4(IGLL1):c.46C>T (p.Pro16Ser)
|
|
|
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys)
|
rs111903752
|
|
NM_020070.4(IGLL1):c.485T>C (p.Met162Thr)
|
rs111903752
|
|
NM_020070.4(IGLL1):c.489C>T (p.Thr163=)
|
|
|
NM_020070.4(IGLL1):c.491C>T (p.Thr164Met)
|
|
|
NM_020070.4(IGLL1):c.497C>G (p.Ser166Cys)
|
|
|
NM_020070.4(IGLL1):c.507CAA[2] (p.Asn171del)
|
|
|
NM_020070.4(IGLL1):c.513C>G (p.Asn171Lys)
|
|
|
NM_020070.4(IGLL1):c.515A>G (p.Lys172Arg)
|
|
|
NM_020070.4(IGLL1):c.519C>T (p.Tyr173=)
|
|
|
NM_020070.4(IGLL1):c.520G>A (p.Ala174Thr)
|
rs199718215
|
|
NM_020070.4(IGLL1):c.520G>T (p.Ala174Ser)
|
rs199718215
|
|
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met)
|
rs1555903974
|
|
NM_020070.4(IGLL1):c.525C>T (p.Ala175=)
|
rs2123695696
|
|
NM_020070.4(IGLL1):c.52C>T (p.Pro18Ser)
|
|
|
NM_020070.4(IGLL1):c.536T>G (p.Leu179Arg)
|
|
|
NM_020070.4(IGLL1):c.53C>T (p.Pro18Leu)
|
rs374187217
|
|
NM_020070.4(IGLL1):c.542T>C (p.Leu181Pro)
|
|
|
NM_020070.4(IGLL1):c.546G>A (p.Thr182=)
|
rs146592375
|
|
NM_020070.4(IGLL1):c.551dup (p.Gln185fs)
|
|
|
NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter)
|
rs1569069105
|
|
NM_020070.4(IGLL1):c.559A>C (p.Arg187=)
|
|
|
NM_020070.4(IGLL1):c.55A>G (p.Asn19Asp)
|
|
|
NM_020070.4(IGLL1):c.560G>A (p.Arg187Lys)
|
|
|
NM_020070.4(IGLL1):c.584A>G (p.Gln195Arg)
|
|
|
NM_020070.4(IGLL1):c.590T>G (p.Met197Arg)
|
rs772660059
|
|
NM_020070.4(IGLL1):c.594C>A (p.His198Gln)
|
rs1064418
|
|
NM_020070.4(IGLL1):c.595G>A (p.Glu199Lys)
|
|
|
NM_020070.4(IGLL1):c.5G>A (p.Arg2Lys)
|
|
|
NM_020070.4(IGLL1):c.606C>G (p.Thr202=)
|
|
|
NM_020070.4(IGLL1):c.606_609delinsTGCA (p.Val203Ala)
|
rs1569069031
|
|
NM_020070.4(IGLL1):c.608T>C (p.Val203Ala)
|
rs941686597
|
|
NM_020070.4(IGLL1):c.609G>A (p.Val203=)
|
rs747588803
|
|
NM_020070.4(IGLL1):c.619G>A (p.Val207Met)
|
rs779159751
|
|
NM_020070.4(IGLL1):c.624C>T (p.Ala208=)
|
|
|
NM_020070.4(IGLL1):c.633A>G (p.Glu211=)
|
|
|
NM_020070.4(IGLL1):c.68G>A (p.Arg23His)
|
|
|
NM_020070.4(IGLL1):c.74C>A (p.Pro25His)
|
|
|
NM_020070.4(IGLL1):c.82C>T (p.Leu28=)
|
|
|
NM_020070.4(IGLL1):c.97G>A (p.Val33Met)
|
rs116760479
|
|
NM_181523.3(PIK3R1):c.*1del (p.Ter725=)
|
rs1747800027
|
|
NM_181523.3(PIK3R1):c.1017G>C (p.Ser339=)
|
rs781406681
|
|
NM_181523.3(PIK3R1):c.1019+16C>G
|
|
|
NM_181523.3(PIK3R1):c.1019+19C>T
|
|
|
NM_181523.3(PIK3R1):c.1019+5_1019+7del
|
|
|
NM_181523.3(PIK3R1):c.1020G>A (p.Arg340=)
|
|
|
NM_181523.3(PIK3R1):c.1029G>A (p.Val343=)
|
rs1747485112
|
|
NM_181523.3(PIK3R1):c.102A>G (p.Lys34=)
|
|
|
NM_181523.3(PIK3R1):c.1042C>G (p.Arg348Gly)
|
|
|
NM_181523.3(PIK3R1):c.104G>C (p.Gly35Ala)
|
rs1017086766
|
|
NM_181523.3(PIK3R1):c.104_105delinsAC (p.Gly35Asp)
|
|
|
NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=)
|
|
|
NM_181523.3(PIK3R1):c.105G>A (p.Gly35=)
|
|
|
NM_181523.3(PIK3R1):c.1061C>G (p.Thr354Ser)
|
|
|
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter)
|
|
|
NM_181523.3(PIK3R1):c.1092G>A (p.Met364Ile)
|
|
|
NM_181523.3(PIK3R1):c.1118+11del
|
|
|
NM_181523.3(PIK3R1):c.1119-13A>T
|
|
|
NM_181523.3(PIK3R1):c.119T>C (p.Leu40Pro)
|
rs2111964134
|
|
NM_181523.3(PIK3R1):c.1202T>C (p.Val401Ala)
|
|
|
NM_181523.3(PIK3R1):c.1216A>C (p.Asn406His)
|
|
|
NM_181523.3(PIK3R1):c.1218C>T (p.Asn406=)
|
|
|
NM_181523.3(PIK3R1):c.1224C>T (p.Tyr408=)
|
|
|
NM_181523.3(PIK3R1):c.1258T>G (p.Leu420Val)
|
|
|
NM_181523.3(PIK3R1):c.1260G>A (p.Leu420=)
|
rs1747501345
|
|
NM_181523.3(PIK3R1):c.1273C>A (p.Leu425Ile)
|
rs1001616209
|
|
NM_181523.3(PIK3R1):c.1273C>T (p.Leu425Phe)
|
rs1001616209
|
|
NM_181523.3(PIK3R1):c.1289A>C (p.Lys430Thr)
|
rs188617536
|
|
NM_181523.3(PIK3R1):c.1289A>G (p.Lys430Arg)
|
|
|
NM_181523.3(PIK3R1):c.1299+4A>G
|
|
|
NM_181523.3(PIK3R1):c.1299+9_1299+19del
|
|
|
NM_181523.3(PIK3R1):c.1300-10A>C
|
rs377666209
|
|
NM_181523.3(PIK3R1):c.1300-13T>G
|
|
|
NM_181523.3(PIK3R1):c.1300-15T>A
|
rs750356306
|
|
NM_181523.3(PIK3R1):c.1300-15T>C
|
|
|
NM_181523.3(PIK3R1):c.1300-2A>G
|
rs1403833564
|
|
NM_181523.3(PIK3R1):c.1300-5_1320del
|
rs2112261986
|
|
NM_181523.3(PIK3R1):c.1306_1313del (p.Val436fs)
|
|
|
NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439fs)
|
|
|
NM_181523.3(PIK3R1):c.1319A>G (p.Asp440Gly)
|
|
|
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)
|
rs1289537429
|
|
NM_181523.3(PIK3R1):c.1344dup (p.Leu449fs)
|
rs1289537429
|
|
NM_181523.3(PIK3R1):c.1350_1360del (p.Glu451fs)
|
|
|
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)
|
rs1057519838
|
|
NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=)
|
rs754454562
|
|
NM_181523.3(PIK3R1):c.1407A>C (p.Glu469Asp)
|
rs747844946
|
|
NM_181523.3(PIK3R1):c.1415G>A (p.Arg472His)
|
|
|
NM_181523.3(PIK3R1):c.1422C>T (p.Ser474=)
|
|
|
NM_181523.3(PIK3R1):c.1425+11T>A
|
|
|
NM_181523.3(PIK3R1):c.1425+12A>G
|
rs370702392
|
|
NM_181523.3(PIK3R1):c.1425+19T>C
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>A
|
rs587777709
|
|
NM_181523.3(PIK3R1):c.1425+1G>C
|
rs587777709
|
|
NM_181523.3(PIK3R1):c.1425+1G>T
|
rs587777709
|
|
NM_181523.3(PIK3R1):c.1425+2T>A
|
rs1554051075
|
|
NM_181523.3(PIK3R1):c.1434A>G (p.Gln478=)
|
|
|
NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp)
|
rs1747587410
|
|
NM_181523.3(PIK3R1):c.1464T>C (p.Asn488=)
|
|
|
NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu)
|
rs765178503
|
|
NM_181523.3(PIK3R1):c.1512C>T (p.Tyr504=)
|
rs1483544920
|
|
NM_181523.3(PIK3R1):c.151G>A (p.Glu51Lys)
|
|
|
NM_181523.3(PIK3R1):c.1524C>T (p.Tyr508=)
|
|
|
NM_181523.3(PIK3R1):c.1539_1547del (p.Lys513_Gly516delinsAsn)
|
|
|
NM_181523.3(PIK3R1):c.1541G>A (p.Arg514His)
|
rs2112270035
|
|
NM_181523.3(PIK3R1):c.1541G>C (p.Arg514Pro)
|
|
|
NM_181523.3(PIK3R1):c.1556A>G (p.Lys519Arg)
|
rs1131691859
|
|
NM_181523.3(PIK3R1):c.1566A>G (p.Gln522=)
|
rs2112270247
|
|
NM_181523.3(PIK3R1):c.1568+10_1568+18del
|
rs1747596001
|
|
NM_181523.3(PIK3R1):c.1568+10dup
|
rs2112270441
|
|
NM_181523.3(PIK3R1):c.1568+13C>G
|
rs779251252
|
|
NM_181523.3(PIK3R1):c.1568+4G>C
|
|
|
NM_181523.3(PIK3R1):c.1569-14T>C
|
rs2112273923
|
|
NM_181523.3(PIK3R1):c.1569-3C>T
|
rs1747637758
|
|
NM_181523.3(PIK3R1):c.1569-6C>T
|
|
|
NM_181523.3(PIK3R1):c.157A>G (p.Ile53Val)
|
|
|
NM_181523.3(PIK3R1):c.1598C>G (p.Ser533Cys)
|
|
|
NM_181523.3(PIK3R1):c.1621A>G (p.Ser541Gly)
|
|
|
NM_181523.3(PIK3R1):c.1628G>A (p.Arg543Lys)
|
|
|
NM_181523.3(PIK3R1):c.162C>T (p.Gly54=)
|
|
|
NM_181523.3(PIK3R1):c.1633T>C (p.Leu545=)
|
rs1227172617
|
|
NM_181523.3(PIK3R1):c.1650_1674del (p.Lys551fs)
|
|
|
NM_181523.3(PIK3R1):c.1665G>A (p.Glu555=)
|
rs200936785
|
|
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln)
|
rs2112275807
|
|
NM_181523.3(PIK3R1):c.1676T>C (p.Ile559Thr)
|
|
|
NM_181523.3(PIK3R1):c.1683A>G (p.Lys561=)
|
rs1747643900
|
|
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys)
|
rs773686816
|
|
NM_181523.3(PIK3R1):c.1695C>T (p.Ser565=)
|
|
|
NM_181523.3(PIK3R1):c.1703C>A (p.Pro568Gln)
|
|
|
NM_181523.3(PIK3R1):c.1704A>T (p.Pro568=)
|
rs1580265568
|
|
NM_181523.3(PIK3R1):c.1708C>T (p.Leu570Phe)
|
|
|
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)
|
rs1580173662
|
|
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs)
|
rs1561299903
|
|
NM_181523.3(PIK3R1):c.1719G>A (p.Leu573=)
|
|
|
NM_181523.3(PIK3R1):c.1728G>A (p.Thr576=)
|
rs149090706
|
|
NM_181523.3(PIK3R1):c.1728G>T (p.Thr576=)
|
rs149090706
|
|
NM_181523.3(PIK3R1):c.1745+14A>G
|
rs1321466058
|
|
NM_181523.3(PIK3R1):c.1745+18A>G
|
|
|
NM_181523.3(PIK3R1):c.1745+5G>A
|
rs1747649223
|
|
NM_181523.3(PIK3R1):c.1745T>C (p.Met582Thr)
|
|
|
NM_181523.3(PIK3R1):c.1746-9G>C
|
|
|
NM_181523.3(PIK3R1):c.1758A>G (p.Gln586=)
|
rs1349813143
|
|
NM_181523.3(PIK3R1):c.1796G>A (p.Gly599Asp)
|
|
|
NM_181523.3(PIK3R1):c.1814+6T>G
|
|
|
NM_181523.3(PIK3R1):c.1814+8G>T
|
|
|
NM_181523.3(PIK3R1):c.1815-10G>A
|
rs2112282588
|
|
NM_181523.3(PIK3R1):c.1815-12C>T
|
|
|
NM_181523.3(PIK3R1):c.1815-17_1815-16del
|
|
|
NM_181523.3(PIK3R1):c.1815-6_1815-3del
|
rs1430970566
|
|
NM_181523.3(PIK3R1):c.1819T>C (p.Tyr607His)
|
|
|
NM_181523.3(PIK3R1):c.183A>T (p.Glu61Asp)
|
|
|
NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val)
|
rs1747703922
|
|
NM_181523.3(PIK3R1):c.185C>T (p.Thr62Ile)
|
rs1744294827
|
|
NM_181523.3(PIK3R1):c.1860T>G (p.Asp620Glu)
|
|
|
NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys)
|
rs1376376979
|
|
NM_181523.3(PIK3R1):c.1875T>C (p.Asn625=)
|
|
|
NM_181523.3(PIK3R1):c.1891C>A (p.Arg631=)
|
|
|
NM_181523.3(PIK3R1):c.1912T>C (p.Leu638=)
|
rs1580267244
|
|
NM_181523.3(PIK3R1):c.1914G>A (p.Leu638=)
|
|
|
NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs)
|
rs1747708267
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln)
|
|
|
NM_181523.3(PIK3R1):c.1948G>A (p.Glu650Lys)
|
|
|
NM_181523.3(PIK3R1):c.1962G>C (p.Gln654His)
|
|
|
NM_181523.3(PIK3R1):c.1985+11C>T
|
|
|
NM_181523.3(PIK3R1):c.1985+19C>A
|
|
|
NM_181523.3(PIK3R1):c.1985+19C>T
|
|
|
NM_181523.3(PIK3R1):c.1985+3A>G
|
|
|
NM_181523.3(PIK3R1):c.1985+4T>G
|
|
|
NM_181523.3(PIK3R1):c.1985+7A>G
|
rs781079021
|
|
NM_181523.3(PIK3R1):c.1986-11C>T
|
|
|
NM_181523.3(PIK3R1):c.1986-17T>C
|
rs1254104173
|
|
NM_181523.3(PIK3R1):c.1986-19T>C
|
rs2112289925
|
|
NM_181523.3(PIK3R1):c.1986-31_1986-19del
|
rs2112289847
|
|
NM_181523.3(PIK3R1):c.1987G>A (p.Val663Met)
|
rs1747782919
|
|
NM_181523.3(PIK3R1):c.198G>A (p.Arg66=)
|
|
|
NM_181523.3(PIK3R1):c.1992C>G (p.Asp664Glu)
|
|
|
NM_181523.3(PIK3R1):c.1992C>T (p.Asp664=)
|
|
|
NM_181523.3(PIK3R1):c.2006A>G (p.His669Arg)
|
rs1747784886
|
|
NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu)
|
rs1744296159
|
|
NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs)
|
rs1747785071
|
|
NM_181523.3(PIK3R1):c.2014A>G (p.Ile672Val)
|
rs764638492
|
|
NM_181523.3(PIK3R1):c.2026G>A (p.Ala676Thr)
|
rs1747786981
|
|
NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn)
|
rs755043940
|
|
NM_181523.3(PIK3R1):c.2040C>G (p.Gly680=)
|
rs1747788048
|
|
NM_181523.3(PIK3R1):c.2056A>C (p.Asn686His)
|
rs2112291384
|
|
NM_181523.3(PIK3R1):c.207T>C (p.Phe69=)
|
|
|
NM_181523.3(PIK3R1):c.207T>G (p.Phe69Leu)
|
|
|
NM_181523.3(PIK3R1):c.2091T>G (p.His697Gln)
|
|
|
NM_181523.3(PIK3R1):c.209C>T (p.Pro70Leu)
|
rs910474484
|
|
NM_181523.3(PIK3R1):c.210G>A (p.Pro70=)
|
rs149852476
|
|
NM_181523.3(PIK3R1):c.2115G>A (p.Gln705=)
|
|
|
NM_181523.3(PIK3R1):c.2136C>A (p.Val712=)
|
rs2112293555
|
|
NM_181523.3(PIK3R1):c.213A>C (p.Gly71=)
|
|
|
NM_181523.3(PIK3R1):c.2147A>T (p.Tyr716Phe)
|
|
|
NM_181523.3(PIK3R1):c.2155T>A (p.Tyr719Asn)
|
rs1747798069
|
|
NM_181523.3(PIK3R1):c.2166G>A (p.Gln722=)
|
|
|
NM_181523.3(PIK3R1):c.2170C>T (p.Arg724Ter)
|
rs764019194
|
|
NM_181523.3(PIK3R1):c.2171G>A (p.Arg724Gln)
|
|
|
NM_181523.3(PIK3R1):c.225A>G (p.Glu75=)
|
|
|
NM_181523.3(PIK3R1):c.248C>T (p.Ser83Leu)
|
|
|
NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg)
|
rs772928652
|
|
NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile)
|
rs1744300386
|
|
NM_181523.3(PIK3R1):c.25A>C (p.Arg9=)
|
|
|
NM_181523.3(PIK3R1):c.264G>A (p.Lys88=)
|
|
|
NM_181523.3(PIK3R1):c.267C>T (p.Pro89=)
|
|
|
NM_181523.3(PIK3R1):c.268C>T (p.Arg90Trp)
|
|
|
NM_181523.3(PIK3R1):c.275C>G (p.Pro92Arg)
|
|
|
NM_181523.3(PIK3R1):c.278G>A (p.Arg93Gln)
|
rs765266397
|
|
NM_181523.3(PIK3R1):c.299G>C (p.Gly100Ala)
|
|
|
NM_181523.3(PIK3R1):c.30G>A (p.Ala10=)
|
|
|
NM_181523.3(PIK3R1):c.318A>G (p.Ala106=)
|
|
|
NM_181523.3(PIK3R1):c.319G>C (p.Asp107His)
|
|
|
NM_181523.3(PIK3R1):c.328CAA[1] (p.Gln111del)
|
|
|
NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg)
|
rs575423347
|
|
NM_181523.3(PIK3R1):c.334+14_334+15delinsCA
|
rs2111966143
|
|
NM_181523.3(PIK3R1):c.334+18G>C
|
|
|
NM_181523.3(PIK3R1):c.334+4_334+9del
|
rs1219959578
|
|
NM_181523.3(PIK3R1):c.334+7A>G
|
|
|
NM_181523.3(PIK3R1):c.335-15T>G
|
|
|
NM_181523.3(PIK3R1):c.335-3C>T
|
|
|
NM_181523.3(PIK3R1):c.33G>A (p.Leu11=)
|
|
|
NM_181523.3(PIK3R1):c.341C>T (p.Thr114Ile)
|
|
|
NM_181523.3(PIK3R1):c.343C>G (p.Leu115Val)
|
rs763574306
|
|
NM_181523.3(PIK3R1):c.343C>T (p.Leu115Phe)
|
rs763574306
|
|
NM_181523.3(PIK3R1):c.351T>C (p.Asp117=)
|
rs2112164402
|
|
NM_181523.3(PIK3R1):c.369C>A (p.Ala123=)
|
rs2112164504
|
|
NM_181523.3(PIK3R1):c.374C>G (p.Pro125Arg)
|
|
|
NM_181523.3(PIK3R1):c.376G>A (p.Asp126Asn)
|
|
|
NM_181523.3(PIK3R1):c.386C>T (p.Pro129Leu)
|
|
|
NM_181523.3(PIK3R1):c.398T>C (p.Ile133Thr)
|
|
|
NM_181523.3(PIK3R1):c.403C>T (p.Leu135Phe)
|
rs2112164735
|
|
NM_181523.3(PIK3R1):c.406G>A (p.Val136Met)
|
rs539374043
|
|
NM_181523.3(PIK3R1):c.406G>C (p.Val136Leu)
|
rs539374043
|
|
NM_181523.3(PIK3R1):c.413C>G (p.Ala138Gly)
|
|
|
NM_181523.3(PIK3R1):c.414C>A (p.Ala138=)
|
|
|
NM_181523.3(PIK3R1):c.427+6C>G
|
|
|
NM_181523.3(PIK3R1):c.428-6T>C
|
rs1746468268
|
|
NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter)
|
rs1339790364
|
|
NM_181523.3(PIK3R1):c.451A>G (p.Arg151Gly)
|
|
|
NM_181523.3(PIK3R1):c.455C>A (p.Thr152Lys)
|
|
|
NM_181523.3(PIK3R1):c.468C>T (p.Ser156=)
|
|
|
NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu)
|
rs755300178
|
|
NM_181523.3(PIK3R1):c.502+6T>C
|
rs2112167267
|
|
NM_181523.3(PIK3R1):c.502G>A (p.Asp168Asn)
|
|
|
NM_181523.3(PIK3R1):c.503-5C>T
|
|
|
NM_181523.3(PIK3R1):c.505A>G (p.Thr169Ala)
|
|
|
NM_181523.3(PIK3R1):c.510C>G (p.Pro170=)
|
|
|
NM_181523.3(PIK3R1):c.511T>C (p.Ser171Pro)
|
rs1440086188
|
|
NM_181523.3(PIK3R1):c.517G>A (p.Asp173Asn)
|
|
|
NM_181523.3(PIK3R1):c.517G>T (p.Asp173Tyr)
|
|
|
NM_181523.3(PIK3R1):c.531C>T (p.Ile177=)
|
rs559414629
|
|
NM_181523.3(PIK3R1):c.532G>A (p.Asp178Asn)
|
|
|
NM_181523.3(PIK3R1):c.532G>T (p.Asp178Tyr)
|
|
|
NM_181523.3(PIK3R1):c.535G>A (p.Val179Met)
|
|
|
NM_181523.3(PIK3R1):c.549T>C (p.Ala183=)
|
|
|
NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)
|
rs1264292969
|
|
NM_181523.3(PIK3R1):c.566A>T (p.Tyr189Phe)
|
rs1237204595
|
|
NM_181523.3(PIK3R1):c.568C>A (p.Leu190Ile)
|
|
|
NM_181523.3(PIK3R1):c.580C>A (p.Pro194Thr)
|
rs781181630
|
|
NM_181523.3(PIK3R1):c.580C>G (p.Pro194Ala)
|
|
|
NM_181523.3(PIK3R1):c.603C>T (p.Ala201=)
|
rs780278854
|
|
NM_181523.3(PIK3R1):c.607T>C (p.Tyr203His)
|
|
|
NM_181523.3(PIK3R1):c.629C>T (p.Ala210Val)
|
|
|
NM_181523.3(PIK3R1):c.634+11T>G
|
rs1287288917
|
|
NM_181523.3(PIK3R1):c.634+82A>G
|
|
|
NM_181523.3(PIK3R1):c.634+8T>C
|
rs368138177
|
|
NM_181523.3(PIK3R1):c.635-10A>T
|
|
|
NM_181523.3(PIK3R1):c.635-4G>A
|
rs1262336304
|
|
NM_181523.3(PIK3R1):c.635-7C>G
|
rs1561289181
|
|
NM_181523.3(PIK3R1):c.637G>A (p.Val213Ile)
|
|
|
NM_181523.3(PIK3R1):c.648C>T (p.Ser216=)
|
rs575150982
|
|
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)
|
rs540361957
|
|
NM_181523.3(PIK3R1):c.656A>G (p.Tyr219Cys)
|
|
|
NM_181523.3(PIK3R1):c.657T>C (p.Tyr219=)
|
|
|
NM_181523.3(PIK3R1):c.658A>T (p.Ile220Phe)
|
|
|
NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val)
|
rs1746792752
|
|
NM_181523.3(PIK3R1):c.680T>G (p.Ile227Ser)
|
|
|
NM_181523.3(PIK3R1):c.684G>A (p.Arg228=)
|
|
|
NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu)
|
rs201598843
|
|
NM_181523.3(PIK3R1):c.699T>G (p.Pro233=)
|
|
|
NM_181523.3(PIK3R1):c.701A>G (p.His234Arg)
|
rs746719882
|
|
NM_181523.3(PIK3R1):c.708T>C (p.Tyr236=)
|
|
|
NM_181523.3(PIK3R1):c.716C>A (p.Thr239Lys)
|
rs141981005
|
|
NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu)
|
rs1746794995
|
|
NM_181523.3(PIK3R1):c.723G>A (p.Gln241=)
|
|
|
NM_181523.3(PIK3R1):c.736C>A (p.His246Asn)
|
rs2112195478
|
|
NM_181523.3(PIK3R1):c.742T>C (p.Phe248Leu)
|
|
|
NM_181523.3(PIK3R1):c.746A>G (p.Lys249Arg)
|
|
|
NM_181523.3(PIK3R1):c.753T>C (p.Ser251=)
|
|
|
NM_181523.3(PIK3R1):c.759C>G (p.Thr253=)
|
rs2112195690
|
|
NM_181523.3(PIK3R1):c.800T>A (p.Ile267Asn)
|
rs2112195905
|
|
NM_181523.3(PIK3R1):c.811A>G (p.Met271Val)
|
|
|
NM_181523.3(PIK3R1):c.814C>T (p.Leu272Phe)
|
rs2112196013
|
|
NM_181523.3(PIK3R1):c.820A>G (p.Arg274Gly)
|
|
|
NM_181523.3(PIK3R1):c.836+14G>A
|
|
|
NM_181523.3(PIK3R1):c.836+8A>G
|
rs1746799191
|
|
NM_181523.3(PIK3R1):c.837-13C>A
|
|
|
NM_181523.3(PIK3R1):c.837-13C>T
|
rs3730085
|
|
NM_181523.3(PIK3R1):c.837-7C>T
|
rs571365105
|
|
NM_181523.3(PIK3R1):c.842A>G (p.Asp281Gly)
|
|
|
NM_181523.3(PIK3R1):c.845A>G (p.Asn282Ser)
|
|
|
NM_181523.3(PIK3R1):c.854A>G (p.Asn285Ser)
|
rs2112196978
|
|
NM_181523.3(PIK3R1):c.855C>G (p.Asn285Lys)
|
|
|
NM_181523.3(PIK3R1):c.858C>T (p.Leu286=)
|
|
|
NM_181523.3(PIK3R1):c.88T>C (p.Leu30=)
|
rs2111963982
|
|
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter)
|
rs397509384
|
|
NM_181523.3(PIK3R1):c.898G>A (p.Glu300Lys)
|
|
|
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter)
|
rs367669362
|
|
NM_181523.3(PIK3R1):c.902G>A (p.Arg301Gln)
|
|
|
NM_181523.3(PIK3R1):c.909T>C (p.Pro303=)
|
|
|
NM_181523.3(PIK3R1):c.913C>G (p.Pro305Ala)
|
|
|
NM_181523.3(PIK3R1):c.913C>T (p.Pro305Ser)
|
|
|
NM_181523.3(PIK3R1):c.916+15G>T
|
|
|
NM_181523.3(PIK3R1):c.916+18T>G
|
rs2112197494
|
|
NM_181523.3(PIK3R1):c.916+2T>C
|
|
|
NM_181523.3(PIK3R1):c.916+9T>G
|
|
|
NM_181523.3(PIK3R1):c.917-14_917-9del
|
rs2112244267
|
|
NM_181523.3(PIK3R1):c.917-5T>A
|
|
|
NM_181523.3(PIK3R1):c.918A>G (p.Ala306=)
|
|
|
NM_181523.3(PIK3R1):c.936A>C (p.Pro312=)
|
|
|
NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile)
|
|
|
NM_181523.3(PIK3R1):c.953C>T (p.Ala318Val)
|
|
|
NM_181523.3(PIK3R1):c.956A>G (p.Asn319Ser)
|
|
|
NM_181523.3(PIK3R1):c.959A>G (p.Asn320Ser)
|
rs1747439245
|
|
NM_181523.3(PIK3R1):c.965del (p.Met322fs)
|
rs1580260232
|
|
NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del)
|
rs1747439770
|
|
NM_181523.3(PIK3R1):c.969T>C (p.Asn323=)
|
|
|
NM_181523.3(PIK3R1):c.974A>G (p.Asn325Ser)
|
rs1452312514
|
|
NM_181523.3(PIK3R1):c.978G>C (p.Met326Ile)
|
rs3730089
|
|