NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)
|
rs200644381
|
0.00019
|
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter)
|
rs140800288
|
0.00006
|
NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter)
|
rs770266168
|
0.00003
|
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)
|
rs104894286
|
0.00002
|
NM_000448.3(RAG1):c.334C>T (p.Arg112Cys)
|
rs146457887
|
0.00002
|
NM_012092.4(ICOS):c.356T>C (p.Phe119Ser)
|
rs375299065
|
0.00002
|
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His)
|
rs200666300
|
0.00002
|
NM_052813.5(CARD9):c.638del (p.Leu213fs)
|
rs1379376784
|
0.00002
|
NM_000383.4(AIRE):c.1A>G (p.Met1Val)
|
rs121434258
|
0.00001
|
NM_000416.3(IFNGR1):c.523del (p.Tyr175fs)
|
rs749956849
|
0.00001
|
NM_001322934.2(NFKB2):c.1903C>T (p.Arg635Ter)
|
rs748910652
|
0.00001
|
NM_001770.6(CD19):c.274G>T (p.Gly92Trp)
|
rs758555433
|
0.00001
|
NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?)
|
rs1567479117
|
0.00001
|
NM_003721.4(RFXANK):c.584T>C (p.Leu195Pro)
|
rs751386365
|
0.00001
|
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln)
|
rs1581573705
|
0.00001
|
NM_006060.6(IKZF1):c.550C>T (p.Arg184Trp)
|
rs1584926038
|
0.00001
|
NM_006282.5(STK4):c.349C>T (p.Arg117Ter)
|
rs387907316
|
0.00001
|
NC_000002.12:g.203867482_203869297del
|
|
|
NC_000002.12:g.203870597_203875386del
|
|
|
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)
|
rs778993919
|
|
NM_000061.3(BTK):c.1580G>A (p.Cys527Tyr)
|
rs1057520578
|
|
NM_000061.3(BTK):c.240G>A (p.Pro80=)
|
rs1569296295
|
|
NM_000061.3(BTK):c.43C>T (p.Gln15Ter)
|
rs128620188
|
|
NM_000061.3(BTK):c.764G>A (p.Arg255Gln)
|
rs1603008329
|
|
NM_000061.3(BTK):c.837T>A (p.Tyr279Ter)
|
rs1603007888
|
|
NM_001099274.3(TINF2):c.1061+1G>T
|
rs1594550523
|
|
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)
|
rs1489114116
|
|
NM_001322934.2(NFKB2):c.1469+1G>T
|
rs1589866171
|
|
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)
|
rs397514332
|
|
NM_001363.5(DKC1):c.1346G>A (p.Arg449Gln)
|
rs1289430524
|
|
NM_001364905.1(LRBA):c.2258+3dup
|
rs1579059712
|
|
NM_001364905.1(LRBA):c.4522C>T (p.Gln1508Ter)
|
rs1578971328
|
|
NM_001364905.1(LRBA):c.8422G>T (p.Gly2808Ter)
|
rs1171694504
|
|
NM_001367916.1(MAGT1):c.992+1G>A
|
rs1557213306
|
|
NM_001770.6(CD19):c.321G>A (p.Trp107Ter)
|
rs1596712783
|
|
NM_001783.4(CD79A):c.323T>G (p.Val108Gly)
|
rs1600631294
|
|
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs)
|
rs1573613529
|
|
NM_003998.4(NFKB1):c.1005del (p.Arg336fs)
|
rs1578795536
|
|
NM_003998.4(NFKB1):c.1423del (p.Ala475fs)
|
rs1578809101
|
|
NM_003998.4(NFKB1):c.1539_1543del (p.His513fs)
|
rs1578811073
|
|
NM_003998.4(NFKB1):c.160-1G>A
|
rs1578735709
|
|
NM_003998.4(NFKB1):c.1621_1622del (p.Gln540_Asp541insTer)
|
rs1578811245
|
|
NM_003998.4(NFKB1):c.187del (p.Glu63fs)
|
rs1578735747
|
|
NM_003998.4(NFKB1):c.295C>T (p.Gln99Ter)
|
rs1578771211
|
|
NM_003998.4(NFKB1):c.835+2T>C
|
rs869320689
|
|
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)
|
rs1578793312
|
|
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)
|
rs773694113
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
|
NM_005214.5(CTLA4):c.127C>G (p.Pro43Ala)
|
rs1581573640
|
|
NM_005214.5(CTLA4):c.410C>G (p.Pro137Arg)
|
rs1553657429
|
|
NM_005535.3(IL12RB1):c.518G>C (p.Arg173Pro)
|
rs756272570
|
|
NM_005535.3(IL12RB1):c.962C>A (p.Ser321Ter)
|
rs147766868
|
|
NM_005720.4(ARPC1B):c.490_491insCC (p.Phe164fs)
|
rs1584409386
|
|
NM_006060.6(IKZF1):c.1401C>G (p.Cys467Trp)
|
rs1585040113
|
|
NM_006060.6(IKZF1):c.476A>G (p.Asn159Ser)
|
rs374333820
|
|
NM_006060.6(IKZF1):c.484C>T (p.Arg162Trp)
|
rs1584925614
|
|
NM_006060.6(IKZF1):c.500A>G (p.His167Arg)
|
rs869312884
|
|
NM_006060.6(IKZF1):c.565A>G (p.Thr189Ala)
|
rs1584926133
|
|
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met)
|
rs587777630
|
|
NM_007315.4(STAT1):c.209G>C (p.Arg70Pro)
|
rs1574672718
|
|
NM_007315.4(STAT1):c.2159C>T (p.Thr720Ile)
|
rs1574636674
|
|
NM_007315.4(STAT1):c.520T>C (p.Cys174Arg)
|
rs387906763
|
|
NM_007315.4(STAT1):c.839T>G (p.Leu280Trp)
|
rs1574657762
|
|
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys)
|
rs1574657750
|
|
NM_007315.4(STAT1):c.859T>G (p.Tyr287Asp)
|
rs1574657735
|
|
NM_012092.4(ICOS):c.58+1G>A
|
rs757598952
|
|
NM_014140.4(SMARCAL1):c.1146_1147+2del
|
rs1574450161
|
|
NM_014639.4(SKIC3):c.1757+1G>A
|
rs570910902
|
|
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter)
|
rs121913664
|
|
NM_138387.4(G6PC3):c.911dup (p.Gln305fs)
|
rs34019455
|
|
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln)
|
rs113994136
|
|
NM_139276.3(STAT3):c.2119A>G (p.Lys707Glu)
|
rs1598381169
|
|
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)
|
rs1064794957
|
|
NM_139276.3(STAT3):c.812C>T (p.Ala271Val)
|
rs1598415756
|
|
NM_139276.3(STAT3):c.870A>T (p.Lys290Asn)
|
rs1598415635
|
|
NM_139276.3(STAT3):c.986T>G (p.Met329Arg)
|
rs1555566820
|
|
NM_181523.3(PIK3R1):c.1300-2A>G
|
rs1403833564
|
|
NM_181523.3(PIK3R1):c.1422_1425+1del
|
rs1580262965
|
|
NM_181523.3(PIK3R1):c.1425+1G>A
|
rs587777709
|
|
NM_198253.3(TERT):c.1381G>T (p.Val461Leu)
|
rs1579596470
|
|
NM_203447.4(DOCK8):c.3438_3439del (p.Met1146fs)
|
rs1586940273
|
|
NM_203447.4(DOCK8):c.6071G>A (p.Cys2024Tyr)
|
rs1587143342
|
|
Single allele
|
|
|