NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)
|
rs139491925
|
0.00106
|
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)
|
rs1064422
|
0.00104
|
NM_001783.4(CD79A):c.371G>A (p.Arg124His)
|
rs144367487
|
0.00088
|
NM_013314.4(BLNK):c.88G>C (p.Gly30Arg)
|
rs143109144
|
0.00077
|
NM_013314.4(BLNK):c.178G>A (p.Glu60Lys)
|
rs148249957
|
0.00056
|
NM_013314.4(BLNK):c.1021G>A (p.Val341Ile)
|
rs144826995
|
0.00041
|
NM_020070.4(IGLL1):c.458G>T (p.Gly153Val)
|
rs138007109
|
0.00039
|
NM_020070.4(IGLL1):c.478G>A (p.Val160Met)
|
rs138799296
|
0.00035
|
NM_001783.4(CD79A):c.224C>T (p.Thr75Met)
|
rs199967393
|
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_001783.4(CD79A):c.134G>C (p.Ser45Thr)
|
rs199603062
|
0.00024
|
NM_001783.4(CD79A):c.341C>T (p.Ser114Leu)
|
rs145895409
|
0.00024
|
NM_000626.4(CD79B):c.338G>A (p.Arg113Gln)
|
rs147236129
|
0.00022
|
NM_001783.4(CD79A):c.370C>T (p.Arg124Cys)
|
rs144006380
|
0.00019
|
NM_181523.3(PIK3R1):c.563G>A (p.Arg188His)
|
rs148059720
|
0.00019
|
NM_000626.4(CD79B):c.250G>A (p.Glu84Lys)
|
rs373082402
|
0.00015
|
NM_000626.4(CD79B):c.286A>G (p.Met96Val)
|
rs201757742
|
0.00014
|
NM_001783.4(CD79A):c.467C>T (p.Ala156Val)
|
rs202097187
|
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_001783.4(CD79A):c.179A>G (p.Asn60Ser)
|
rs370313642
|
0.00011
|
NM_013314.4(BLNK):c.652G>A (p.Ala218Thr)
|
rs375608442
|
0.00011
|
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)
|
rs141981005
|
0.00011
|
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_013314.4(BLNK):c.45G>C (p.Leu15Phe)
|
rs138255946
|
0.00009
|
NM_020070.4(IGLL1):c.550G>A (p.Glu184Lys)
|
rs199906829
|
0.00009
|
NM_000626.4(CD79B):c.179C>T (p.Thr60Met)
|
rs144755516
|
0.00008
|
NM_013314.4(BLNK):c.273C>A (p.Asn91Lys)
|
rs200794859
|
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_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.203G>A (p.Arg68His)
|
rs782507150
|
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_013314.4(BLNK):c.25G>A (p.Val9Ile)
|
rs200630912
|
0.00006
|
NM_013314.4(BLNK):c.596C>G (p.Pro199Arg)
|
rs781980711
|
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.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_001783.4(CD79A):c.263A>G (p.Asn88Ser)
|
rs570673845
|
0.00005
|
NM_013314.4(BLNK):c.206A>G (p.Asp69Gly)
|
rs199765600
|
0.00005
|
NM_020070.4(IGLL1):c.118C>T (p.Arg40Cys)
|
rs199529532
|
0.00005
|
NM_020070.4(IGLL1):c.221G>A (p.Arg74His)
|
rs368706509
|
0.00005
|
NM_020070.4(IGLL1):c.367T>C (p.Ser123Pro)
|
rs752183941
|
0.00005
|
NM_000626.4(CD79B):c.329A>G (p.Gln110Arg)
|
rs139707827
|
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.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_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.368C>G (p.Ser123Cys)
|
rs537809626
|
0.00004
|
NM_020070.4(IGLL1):c.527G>A (p.Ser176Asn)
|
rs765426613
|
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.562C>T (p.Arg188Cys)
|
rs547196342
|
0.00004
|
NM_181523.3(PIK3R1):c.604G>A (p.Val202Ile)
|
rs747881833
|
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_013314.4(BLNK):c.1196G>A (p.Arg399Gln)
|
rs267602649
|
0.00003
|
NM_013314.4(BLNK):c.275C>A (p.Ala92Asp)
|
rs201576692
|
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_181523.3(PIK3R1):c.29C>T (p.Ala10Val)
|
rs767837787
|
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.272T>C (p.Leu91Pro)
|
rs779639084
|
0.00002
|
NM_000626.4(CD79B):c.389C>T (p.Ser130Leu)
|
rs1389559363
|
0.00002
|
NM_000626.4(CD79B):c.47C>T (p.Ala16Val)
|
rs114330958
|
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.653T>A (p.Ile218Lys)
|
rs781969358
|
0.00002
|
NM_013314.4(BLNK):c.1033C>T (p.Pro345Ser)
|
rs782110816
|
0.00002
|
NM_013314.4(BLNK):c.1098T>G (p.Asp366Glu)
|
rs782205113
|
0.00002
|
NM_013314.4(BLNK):c.1316G>A (p.Ser439Asn)
|
rs782445849
|
0.00002
|
NM_013314.4(BLNK):c.293C>T (p.Pro98Leu)
|
rs201683834
|
0.00002
|
NM_013314.4(BLNK):c.52C>T (p.Leu18Phe)
|
rs577163183
|
0.00002
|
NM_013314.4(BLNK):c.544G>A (p.Val182Met)
|
rs141021727
|
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_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.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.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.379A>G (p.Asn127Asp)
|
rs370893971
|
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_001783.4(CD79A):c.184G>A (p.Ala62Thr)
|
rs782467376
|
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.377G>A (p.Arg126His)
|
rs782709381
|
0.00001
|
NM_001783.4(CD79A):c.452T>C (p.Ile151Thr)
|
rs1221821073
|
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.1106T>A (p.Phe369Tyr)
|
rs895691306
|
0.00001
|
NM_013314.4(BLNK):c.113+4A>T
|
rs1554907782
|
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.196G>A (p.Asp66Asn)
|
rs1490043216
|
0.00001
|
NM_013314.4(BLNK):c.201C>G (p.Asp67Glu)
|
rs782619779
|
0.00001
|
NM_013314.4(BLNK):c.211G>A (p.Asp71Asn)
|
rs782528456
|
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.328C>G (p.Pro110Ala)
|
rs1554902771
|
0.00001
|
NM_013314.4(BLNK):c.335T>C (p.Leu112Pro)
|
rs1434331471
|
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.659C>T (p.Pro220Leu)
|
rs1591316040
|
0.00001
|
NM_013314.4(BLNK):c.685A>G (p.Ser229Gly)
|
rs782305136
|
0.00001
|
NM_013314.4(BLNK):c.746G>A (p.Gly249Glu)
|
rs782290327
|
0.00001
|
NM_013314.4(BLNK):c.817+6A>G
|
rs782459899
|
0.00001
|
NM_013314.4(BLNK):c.926C>T (p.Pro309Leu)
|
rs1177361907
|
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.322+4A>T
|
rs753787644
|
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.545C>T (p.Thr182Met)
|
rs761551186
|
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.1118+5G>A
|
rs773388284
|
0.00001
|
NM_181523.3(PIK3R1):c.1157G>A (p.Arg386Gln)
|
rs766524768
|
0.00001
|
NM_181523.3(PIK3R1):c.1226G>A (p.Arg409Gln)
|
rs748784250
|
0.00001
|
NM_181523.3(PIK3R1):c.1305A>G (p.Gln435=)
|
rs935776281
|
0.00001
|
NM_181523.3(PIK3R1):c.1928A>T (p.Asp643Val)
|
rs1747710716
|
0.00001
|
NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser)
|
rs374119964
|
0.00001
|
NM_181523.3(PIK3R1):c.220G>A (p.Val74Ile)
|
rs755953968
|
0.00001
|
NM_181523.3(PIK3R1):c.334+4A>G
|
rs1263122579
|
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.506C>T (p.Thr169Ile)
|
rs778443805
|
0.00001
|
NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr)
|
rs765008592
|
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.616A>G (p.Met206Val)
|
rs773185995
|
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.869T>C (p.Ile290Thr)
|
rs759526958
|
0.00001
|
NC_000010.10:g.(?_97366499)_(98031175_?)dup
|
|
|
NC_000010.10:g.(?_97951709)_(98031175_?)dup
|
|
|
NC_000010.10:g.(?_98031089)_(98031175_?)dup
|
|
|
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.124G>A (p.Ala42Thr)
|
|
|
NM_000626.4(CD79B):c.152G>A (p.Arg51His)
|
rs1401272877
|
|
NM_000626.4(CD79B):c.160G>A (p.Ala54Thr)
|
|
|
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.217A>G (p.Asn73Asp)
|
|
|
NM_000626.4(CD79B):c.245T>G (p.Met82Arg)
|
|
|
NM_000626.4(CD79B):c.256C>A (p.Pro86Thr)
|
|
|
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.362T>G (p.Phe121Cys)
|
|
|
NM_000626.4(CD79B):c.364_366del (p.Cys122del)
|
|
|
NM_000626.4(CD79B):c.429G>A (p.Met143Ile)
|
|
|
NM_000626.4(CD79B):c.431-8_431-7delinsTG
|
|
|
NM_000626.4(CD79B):c.467C>T (p.Thr156Met)
|
rs2144756917
|
|
NM_000626.4(CD79B):c.523G>A (p.Val175Met)
|
|
|
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.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.571G>C (p.Glu191Gln)
|
|
|
NM_000626.4(CD79B):c.584C>G (p.Thr195Ser)
|
|
|
NM_000626.4(CD79B):c.591+4A>T
|
rs2144755829
|
|
NM_000626.4(CD79B):c.641G>A (p.Arg214Gln)
|
|
|
NM_000626.4(CD79B):c.664G>A (p.Val222Ile)
|
rs144588938
|
|
NM_000626.4(CD79B):c.67+3A>G
|
rs1335363614
|
|
NM_000626.4(CD79B):c.679G>A (p.Gly227Ser)
|
rs2144755333
|
|
NM_000626.4(CD79B):c.92C>G (p.Ser31Trp)
|
rs750544228
|
|
NM_000626.4(CD79B):c.93GGA[1] (p.Glu32del)
|
rs780720849
|
|
NM_000626.4(CD79B):c.94G>C (p.Glu32Gln)
|
|
|
NM_001783.4(CD79A):c.128T>A (p.Met43Lys)
|
rs782421590
|
|
NM_001783.4(CD79A):c.137T>C (p.Leu46Pro)
|
rs2074204859
|
|
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.190G>A (p.Val64Ile)
|
|
|
NM_001783.4(CD79A):c.202C>T (p.Arg68Cys)
|
rs782657641
|
|
NM_001783.4(CD79A):c.242T>C (p.Leu81Ser)
|
|
|
NM_001783.4(CD79A):c.253G>A (p.Glu85Lys)
|
|
|
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.379+3G>A
|
|
|
NM_001783.4(CD79A):c.394C>A (p.Pro132Thr)
|
|
|
NM_001783.4(CD79A):c.416G>A (p.Gly139Asp)
|
|
|
NM_001783.4(CD79A):c.419C>T (p.Thr140Ile)
|
rs148797987
|
|
NM_001783.4(CD79A):c.428G>A (p.Arg143Gln)
|
|
|
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)
|
|
|
NM_001783.4(CD79A):c.493T>C (p.Phe165Leu)
|
|
|
NM_001783.4(CD79A):c.498+6C>A
|
|
|
NM_001783.4(CD79A):c.498G>C (p.Arg166Ser)
|
rs2123305225
|
|
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)
|
|
|
NM_001783.4(CD79A):c.523G>A (p.Gly175Arg)
|
rs1016097078
|
|
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.643A>G (p.Ser215Gly)
|
rs550589218
|
|
NM_001783.4(CD79A):c.64T>A (p.Ser22Thr)
|
rs1600629998
|
|
NM_001783.4(CD79A):c.664C>T (p.Gln222Ter)
|
|
|
NM_001783.4(CD79A):c.677C>A (p.Pro226Gln)
|
rs1555844167
|
|
NM_001783.4(CD79A):c.79+6T>C
|
|
|
NM_001783.4(CD79A):c.80G>T (p.Gly27Val)
|
rs2074204427
|
|
NM_013314.4(BLNK):c.1027T>G (p.Cys343Gly)
|
rs2133946404
|
|
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.1244G>C (p.Gly415Ala)
|
rs1466156518
|
|
NM_013314.4(BLNK):c.1252-3T>C
|
|
|
NM_013314.4(BLNK):c.1276A>T (p.Ile426Phe)
|
rs2083340048
|
|
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.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.208A>G (p.Ser70Gly)
|
rs2134032306
|
|
NM_013314.4(BLNK):c.210C>G (p.Ser70Arg)
|
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.253G>A (p.Val85Met)
|
|
|
NM_013314.4(BLNK):c.262G>T (p.Ala88Ser)
|
|
|
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.351C>T (p.Gly117=)
|
|
|
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.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.484C>T (p.Pro162Ser)
|
|
|
NM_013314.4(BLNK):c.521A>T (p.Asp174Val)
|
|
|
NM_013314.4(BLNK):c.571C>A (p.His191Asn)
|
rs2134002149
|
|
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+5G>C
|
rs782348426
|
|
NM_013314.4(BLNK):c.611C>A (p.Pro204His)
|
rs2084041054
|
|
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.677-3C>T
|
rs2133983445
|
|
NM_013314.4(BLNK):c.718G>A (p.Ala240Thr)
|
|
|
NM_013314.4(BLNK):c.71A>G (p.Asp24Gly)
|
rs1554907802
|
|
NM_013314.4(BLNK):c.740G>A (p.Arg247Gln)
|
|
|
NM_013314.4(BLNK):c.745G>A (p.Gly249Arg)
|
|
|
NM_013314.4(BLNK):c.758C>T (p.Thr253Met)
|
|
|
NM_013314.4(BLNK):c.775-3T>C
|
|
|
NM_013314.4(BLNK):c.812G>A (p.Cys271Tyr)
|
rs782250398
|
|
NM_013314.4(BLNK):c.815A>C (p.Glu272Ala)
|
|
|
NM_013314.4(BLNK):c.835G>C (p.Glu279Gln)
|
|
|
NM_013314.4(BLNK):c.839G>A (p.Arg280His)
|
|
|
NM_013314.4(BLNK):c.869C>T (p.Ala290Val)
|
|
|
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.903A>G (p.Lys301=)
|
|
|
NM_013314.4(BLNK):c.926C>A (p.Pro309His)
|
rs1177361907
|
|
NM_013314.4(BLNK):c.970C>T (p.Pro324Ser)
|
rs2083618670
|
|
NM_020070.4(IGLL1):c.119G>A (p.Arg40His)
|
|
|
NM_020070.4(IGLL1):c.119G>T (p.Arg40Leu)
|
|
|
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.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.220C>T (p.Arg74Cys)
|
|
|
NM_020070.4(IGLL1):c.232A>C (p.Thr78Pro)
|
rs2123698257
|
|
NM_020070.4(IGLL1):c.238C>G (p.Pro80Ala)
|
rs766027584
|
|
NM_020070.4(IGLL1):c.254G>A (p.Arg85Gln)
|
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.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>T (p.Thr95Met)
|
|
|
NM_020070.4(IGLL1):c.286C>T (p.His96Tyr)
|
|
|
NM_020070.4(IGLL1):c.321A>G (p.Leu107=)
|
|
|
NM_020070.4(IGLL1):c.322+3_322+6del
|
rs1184765604
|
|
NM_020070.4(IGLL1):c.322+4A>G
|
rs753787644
|
|
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.409A>G (p.Met137Val)
|
|
|
NM_020070.4(IGLL1):c.415_418delinsAAC (p.Asp139fs)
|
|
|
NM_020070.4(IGLL1):c.460A>T (p.Thr154Ser)
|
rs1602287119
|
|
NM_020070.4(IGLL1):c.465del (p.Ile156fs)
|
|
|
NM_020070.4(IGLL1):c.46C>T (p.Pro16Ser)
|
|
|
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.520G>T (p.Ala174Ser)
|
rs199718215
|
|
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.551dup (p.Gln185fs)
|
|
|
NM_020070.4(IGLL1):c.553C>T (p.Gln185Ter)
|
rs1569069105
|
|
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.606_609delinsTGCA (p.Val203Ala)
|
rs1569069031
|
|
NM_020070.4(IGLL1):c.608T>C (p.Val203Ala)
|
rs941686597
|
|
NM_020070.4(IGLL1):c.619G>A (p.Val207Met)
|
rs779159751
|
|
NM_020070.4(IGLL1):c.68G>A (p.Arg23His)
|
|
|
NM_020070.4(IGLL1):c.74C>A (p.Pro25His)
|
|
|
NM_181523.3(PIK3R1):c.*1del (p.Ter725=)
|
rs1747800027
|
|
NM_181523.3(PIK3R1):c.1019+5_1019+7del
|
|
|
NM_181523.3(PIK3R1):c.1020G>A (p.Arg340=)
|
|
|
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.1061C>G (p.Thr354Ser)
|
|
|
NM_181523.3(PIK3R1):c.1092G>A (p.Met364Ile)
|
|
|
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.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.1319A>G (p.Asp440Gly)
|
|
|
NM_181523.3(PIK3R1):c.1407A>C (p.Glu469Asp)
|
rs747844946
|
|
NM_181523.3(PIK3R1):c.1415G>A (p.Arg472His)
|
|
|
NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp)
|
rs1747587410
|
|
NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu)
|
rs765178503
|
|
NM_181523.3(PIK3R1):c.151G>A (p.Glu51Lys)
|
|
|
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.1568+4G>C
|
|
|
NM_181523.3(PIK3R1):c.1569-3C>T
|
rs1747637758
|
|
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.1670G>A (p.Arg557Gln)
|
rs2112275807
|
|
NM_181523.3(PIK3R1):c.1676T>C (p.Ile559Thr)
|
|
|
NM_181523.3(PIK3R1):c.1703C>A (p.Pro568Gln)
|
|
|
NM_181523.3(PIK3R1):c.1708C>T (p.Leu570Phe)
|
|
|
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)
|
rs1580173662
|
|
NM_181523.3(PIK3R1):c.1745+5G>A
|
rs1747649223
|
|
NM_181523.3(PIK3R1):c.1745T>C (p.Met582Thr)
|
|
|
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.1815-12C>T
|
|
|
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.1921_1931del (p.Lys641fs)
|
rs1747708267
|
|
NM_181523.3(PIK3R1):c.1948G>A (p.Glu650Lys)
|
|
|
NM_181523.3(PIK3R1):c.1962G>C (p.Gln654His)
|
|
|
NM_181523.3(PIK3R1):c.1985+3A>G
|
|
|
NM_181523.3(PIK3R1):c.1985+4T>G
|
|
|
NM_181523.3(PIK3R1):c.1987G>A (p.Val663Met)
|
rs1747782919
|
|
NM_181523.3(PIK3R1):c.1992C>G (p.Asp664Glu)
|
|
|
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.2056A>C (p.Asn686His)
|
rs2112291384
|
|
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.2147A>T (p.Tyr716Phe)
|
|
|
NM_181523.3(PIK3R1):c.2155T>A (p.Tyr719Asn)
|
rs1747798069
|
|
NM_181523.3(PIK3R1):c.2170C>T (p.Arg724Ter)
|
rs764019194
|
|
NM_181523.3(PIK3R1):c.2171G>A (p.Arg724Gln)
|
|
|
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.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.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+4_334+9del
|
rs1219959578
|
|
NM_181523.3(PIK3R1):c.335-15T>G
|
|
|
NM_181523.3(PIK3R1):c.335-3C>T
|
|
|
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.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.427+6C>G
|
|
|
NM_181523.3(PIK3R1):c.451A>G (p.Arg151Gly)
|
|
|
NM_181523.3(PIK3R1):c.455C>A (p.Thr152Lys)
|
|
|
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.505A>G (p.Thr169Ala)
|
|
|
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.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.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.607T>C (p.Tyr203His)
|
|
|
NM_181523.3(PIK3R1):c.629C>T (p.Ala210Val)
|
|
|
NM_181523.3(PIK3R1):c.635-7C>G
|
rs1561289181
|
|
NM_181523.3(PIK3R1):c.637G>A (p.Val213Ile)
|
|
|
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)
|
rs540361957
|
|
NM_181523.3(PIK3R1):c.656A>G (p.Tyr219Cys)
|
|
|
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.686C>T (p.Ser229Leu)
|
rs201598843
|
|
NM_181523.3(PIK3R1):c.701A>G (p.His234Arg)
|
rs746719882
|
|
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.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.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.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.898G>A (p.Glu300Lys)
|
|
|
NM_181523.3(PIK3R1):c.902G>A (p.Arg301Gln)
|
|
|
NM_181523.3(PIK3R1):c.913C>G (p.Pro305Ala)
|
|
|
NM_181523.3(PIK3R1):c.913C>T (p.Pro305Ser)
|
|
|
NM_181523.3(PIK3R1):c.916+18T>G
|
rs2112197494
|
|
NM_181523.3(PIK3R1):c.917-14_917-9del
|
rs2112244267
|
|
NM_181523.3(PIK3R1):c.917-5T>A
|
|
|
NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile)
|
|
|
NM_181523.3(PIK3R1):c.956A>G (p.Asn319Ser)
|
|
|
NM_181523.3(PIK3R1):c.959A>G (p.Asn320Ser)
|
rs1747439245
|
|
NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del)
|
rs1747439770
|
|
NM_181523.3(PIK3R1):c.974A>G (p.Asn325Ser)
|
rs1452312514
|
|