|
NM_001364905.1(LRBA):c.8077G>A (p.Ala2693Thr)
|
rs3749574
|
0.21105
|
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
|
NM_012092.4(ICOS):c.451G>C (p.Val151Leu)
|
rs76778263
|
0.00226
|
|
NM_012452.3(TNFRSF13B):c.515G>A (p.Cys172Tyr)
|
rs751216929
|
0.00020
|
|
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)
|
rs121918450
|
0.00016
|
|
NM_001364905.1(LRBA):c.2195G>A (p.Ser732Asn)
|
rs866092082
|
0.00005
|
|
NM_012452.3(TNFRSF13B):c.214C>T (p.Arg72Cys)
|
rs375514495
|
0.00004
|
|
NM_203447.4(DOCK8):c.3043C>T (p.Arg1015Cys)
|
rs369901029
|
0.00004
|
|
NM_001364905.1(LRBA):c.5401G>A (p.Glu1801Lys)
|
rs199596976
|
0.00001
|
|
NM_000061.3(BTK):c.1566_1566+9del
|
|
|
|
NM_000061.3(BTK):c.1635T>A (p.Tyr545Ter)
|
|
|
|
NM_000061.3(BTK):c.1771dup (p.Tyr591fs)
|
|
|
|
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)
|
rs128621193
|
|
|
NM_000061.3(BTK):c.82C>T (p.Arg28Cys)
|
rs1927168815
|
|
|
NM_000074.3(CD40LG):c.347-2A>G
|
rs1569377237
|
|
|
NM_001250.6(CD40):c.256+2T>C
|
rs774195387
|
|
|
NM_001282933.2(ZNF341):c.263T>C (p.Leu88Pro)
|
|
|
|
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter)
|
rs397514332
|
|
|
NM_001364905.1(LRBA):c.1412GAG[1] (p.Gly472del)
|
|
|
|
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
|
|
|
|
NM_001364905.1(LRBA):c.2351A>T (p.Tyr784Phe)
|
|
|
|
NM_001364905.1(LRBA):c.3985_3986del (p.Asp1329fs)
|
|
|
|
NM_001364905.1(LRBA):c.4759_4762del (p.Thr1587fs)
|
|
|
|
NM_001364905.1(LRBA):c.5629del (p.Val1878fs)
|
|
|
|
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs)
|
rs727503779
|
|
|
NM_001364905.1(LRBA):c.8078C>T (p.Ala2693Val)
|
rs562981599
|
|
|
NM_001364905.1(LRBA):c.894+5A>G
|
|
|
|
NM_003998.4(NFKB1):c.1753-1G>T
|
|
|
|
NM_003998.4(NFKB1):c.2240del (p.Leu747fs)
|
|
|
|
NM_005026.5(PIK3CD):c.2347+3G>A
|
|
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
|
|
NM_006979.3(SLC39A7):c.176_199dup (p.His66_Thr67insSerHisAlaHisGlyHisGlyHis)
|
|
|
|
NM_006979.3(SLC39A7):c.868C>T (p.Arg290Ter)
|
|
|
|
NM_012092.4(ICOS):c.451G>A (p.Val151Ile)
|
|
|
|
NM_012452.3(TNFRSF13B):c.61+1G>T
|
rs1016142312
|
|
|
NM_013314.4(BLNK):c.145C>T (p.Arg49Ter)
|
|
|
|
NM_020661.4(AICDA):c.169G>A (p.Val57Met)
|
rs786205474
|
|
|
NM_139276.3(STAT3):c.1309C>T (p.His437Tyr)
|
|
|
|
NM_139276.3(STAT3):c.1869G>T (p.Trp623Cys)
|
|
|
|
NM_139276.3(STAT3):c.1916C>T (p.Pro639Leu)
|
|
|
|
NM_139276.3(STAT3):c.974G>A (p.Arg325Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.1568+2T>C
|
rs780724594
|
|
|
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)
|
rs540361957
|
|
|
NM_203447.4(DOCK8):c.1797+1G>T
|
|
|
|
NM_203447.4(DOCK8):c.3175dup (p.Leu1059fs)
|
|
|
|
NM_203447.4(DOCK8):c.387G>C (p.Trp129Cys)
|
|
|
|
NM_203447.4:c.-469_156+28del
|
|
|