ClinVar Miner

List of variants studied for autosomal agammaglobulinemia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1269
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HGVS dbSNP gnomAD frequency
NM_013314.4(BLNK):c.48-52T>A rs2168732 0.81631
NM_000626.4(CD79B):c.366T>C (p.Cys122=) rs2070776 0.64196
NM_019594.4(LRRC8A):c.1476T>C (p.Arg492=) rs3750319 0.60629
NM_013314.4(BLNK):c.361+71G>A rs11188669 0.58528
NM_003200.5(TCF3):c.72+42T>C rs1860661 0.56456
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.428-21G>A rs171649 0.28654
NM_019594.4(LRRC8A):c.1014T>C (p.Tyr338=) rs3750320 0.24050
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_003200.5(TCF3):c.145+133G>A rs2302419 0.18839
NM_020070.4(IGLL1):c.443C>T (p.Thr148Ile) rs73157031 0.10956
NM_013314.4(BLNK):c.1096-11A>T rs74151283 0.05315
NC_000014.9:g.105855041A>G rs10287 0.05231
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) rs3730090 0.04903
NC_000014.9:g.105855988G>C rs113762053 0.04825
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_019594.4(LRRC8A):c.1509C>T (p.Thr503=) rs3750318 0.02605
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_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_019594.4(LRRC8A):c.2118C>G (p.Leu706=) rs35266233 0.01461
NM_019594.4(LRRC8A):c.2157+11C>T rs11999754 0.01366
NM_019594.4(LRRC8A):c.1803T>C (p.Cys601=) rs16930757 0.01361
NM_013314.4(BLNK):c.526-5G>C rs17111459 0.01232
NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=) rs16930745 0.00880
NM_013314.4(BLNK):c.362-17T>C rs118063042 0.00879
NM_000626.4(CD79B):c.312C>T (p.Leu104=) rs116625909 0.00851
NM_019594.4(LRRC8A):c.774C>T (p.Asp258=) rs41275930 0.00741
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_019594.4(LRRC8A):c.1995G>A (p.Glu665=) rs11999752 0.00533
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=) rs11999256 0.00516
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_003200.5(TCF3):c.1713G>A (p.Glu571=) rs143212973 0.00394
NM_019594.4(LRRC8A):c.1699G>A (p.Val567Met) rs143836544 0.00321
NM_013314.4(BLNK):c.270G>A (p.Glu90=) rs17111469 0.00302
NM_003200.5(TCF3):c.1154G>A (p.Gly385Asp) rs117006898 0.00282
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_003200.5(TCF3):c.315G>A (p.Arg105=) rs144176765 0.00160
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_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
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_003200.5(TCF3):c.136G>A (p.Gly46Arg) rs143529809 0.00039
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_003200.5(TCF3):c.307G>A (p.Gly103Ser) rs201841190 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_003200.5(TCF3):c.1564A>C (p.Lys522Gln) rs201831565 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_003200.5(TCF3):c.823-13C>T rs148835727 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_003200.5(TCF3):c.1948C>A (p.Pro650Thr) rs7252811 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_003200.5(TCF3):c.1430G>A (p.Arg477Gln) rs199957863 0.00012
NM_003200.5(TCF3):c.473G>A (p.Arg158Gln) rs554419240 0.00012
NM_001783.4(CD79A):c.179A>G (p.Asn60Ser) rs370313642 0.00011
NM_003200.5(TCF3):c.229G>A (p.Glu77Lys) rs138963927 0.00011
NM_013314.4(BLNK):c.652G>A (p.Ala218Thr) rs375608442 0.00011
NM_019594.4(LRRC8A):c.33G>A (p.Ala11=) rs202218761 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_003200.5(TCF3):c.23C>T (p.Ala8Val) rs376780559 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_003200.5(TCF3):c.1541C>T (p.Ser514Leu) rs372168347 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_019594.4(LRRC8A):c.1586C>T (p.Ala529Val) rs150164316 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
NC_000014.9:g.105854900G>T rs373184157 0.00003
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
NC_000014.9:g.105854405C>T rs376256147 0.00002
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_003200.5(TCF3):c.1049C>T (p.Ser350Leu) rs963433488 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_019594.4(LRRC8A):c.203C>T (p.Ser68Leu) rs147311433 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_000061.3(BTK):c.1475G>A (p.Arg492His) rs782338603 0.00001
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_003200.5(TCF3):c.107G>A (p.Arg36Gln) rs1011180356 0.00001
NM_003200.5(TCF3):c.1327-3C>A rs369551101 0.00001
NM_003200.5(TCF3):c.1589C>G (p.Pro530Arg) rs745797783 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_020070.4(IGLL1):c.64C>T (p.Gln22Ter) rs74315491 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.536T>C (p.Val179Ala) rs771949848 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
IGHM, 75-KB DEL
NC_000009.12:g.12891379_qterdelins[T;NC_000020.11:g.47204889_qterinv]
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_000014.9:g.105854468A>C rs267606871
NC_000014.9:g.105855107C>T rs281865422
NC_000014.9:g.105855132dup rs2092930640
NC_000014.9:g.105855203G>A
NC_000014.9:g.105855623_105855624del
NC_000014.9:g.105856013G>T rs2142904095
NC_000014.9:g.105856087G>A rs2142904392
NC_000014.9:g.105856156C>T rs201981439
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_000061.3(BTK):c.1116G>C (p.Arg372Ser) rs1555978024
NM_000061.3(BTK):c.141+3_141+6del rs1555980866
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.3(BTK):c.1567-2A>T rs1555977598
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.3(BTK):c.161del (p.Gly54fs) rs1555980799
NM_000061.3(BTK):c.1630_1631+3delinsGAAA rs1555977580
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.3(BTK):c.1706T>C (p.Leu569Pro) rs1555977461
NM_000061.3(BTK):c.1946del (p.Ser649fs) rs1555976766
NM_000061.3(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.3(BTK):c.435C>A (p.Cys145Ter) rs1555978891
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.3(BTK):c.953C>T (p.Ser318Phe) rs1555978197
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.238C>T (p.Gln80Ter) rs267606711
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.409G>A (p.Gly137Ser) rs121912424
NM_000626.4(CD79B):c.414A>G (p.Thr138=) rs1567810051
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)
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys) rs879255271
NM_001136139.4(TCF3):c.1755G>A (p.Lys585=) rs1568312916
NM_001783.4(CD79A):c.108C>T (p.His36=)
NM_001783.4(CD79A):c.120A>C (p.Ala40=)
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=)
NM_001783.4(CD79A):c.190G>A (p.Val64Ile)
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=)
NM_001783.4(CD79A):c.374T>G (p.Val125Gly) rs2123304410
NM_001783.4(CD79A):c.379+19G>T
NM_001783.4(CD79A):c.379+1G>A rs1555843601
NM_001783.4(CD79A):c.379+23dup
NM_001783.4(CD79A):c.379+3G>A
NM_001783.4(CD79A):c.380-14C>A
NM_001783.4(CD79A):c.380-2A>G rs1600631593
NM_001783.4(CD79A):c.380-8C>T
NM_001783.4(CD79A):c.384G>A (p.Pro128=)
NM_001783.4(CD79A):c.394C>A (p.Pro132Thr)
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=)
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.499-10A>C
NM_001783.4(CD79A):c.499-14A>C
NM_001783.4(CD79A):c.499-15C>T rs2123307362
NM_001783.4(CD79A):c.499-18C>A
NM_001783.4(CD79A):c.499-18C>T
NM_001783.4(CD79A):c.499-1G>A
NM_001783.4(CD79A):c.499-8C>T
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.519G>A (p.Lys173=)
NM_001783.4(CD79A):c.51C>A (p.Leu17=)
NM_001783.4(CD79A):c.523G>A (p.Gly175Arg) rs1016097078
NM_001783.4(CD79A):c.525G>T (p.Gly175=)
NM_001783.4(CD79A):c.561T>G (p.Leu187=)
NM_001783.4(CD79A):c.567+15G>C
NM_001783.4(CD79A):c.567+20_567+21delinsAT
NM_001783.4(CD79A):c.568-16C>T
NM_001783.4(CD79A):c.568-6T>C
NM_001783.4(CD79A):c.576C>A (p.Asn192Lys)
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)
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
NM_001783.4(CD79A):c.80G>T (p.Gly27Val) rs2074204427
NM_003200.5(TCF3):c.1121C>A (p.Ala374Asp) rs753137385
NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs) rs2061880735
NM_003200.5(TCF3):c.1543GAG[2] (p.Glu517del)
NM_003200.5(TCF3):c.1670G>A (p.Arg557Gln) rs2145853075
NM_003200.5(TCF3):c.1806G>A (p.Leu602=) rs1376446279
NM_003200.5(TCF3):c.320C>T (p.Ala107Val)
NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del) rs550914200
NM_003200.5(TCF3):c.955+204G>A rs372121697
NM_013314.3(BLNK):c.114delG rs1554906579
NM_013314.4(BLNK):c.1011+14T>C
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
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.47+3A>T rs2134166251
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
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+1G>A rs2083906060
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_019594.4(LRRC8A):c.-2C>T
NM_019594.4(LRRC8A):c.2267del (p.Leu756fs) rs1840810037
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.421del (p.Tyr141fs) rs765603007
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.521delinsAT (p.Ala174fs)
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.785G>C (p.Arg262Thr) rs2112195809
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

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