|
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu)
|
rs143828923
|
0.00026
|
|
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)
|
rs147462227
|
0.00007
|
|
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)
|
rs764485070
|
0.00004
|
|
NM_002661.5(PLCG2):c.2095G>A (p.Gly699Ser)
|
rs753618006
|
0.00003
|
|
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)
|
rs587777727
|
0.00003
|
|
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)
|
rs199474676
|
0.00002
|
|
NM_001242.5(CD27):c.98G>A (p.Trp33Ter)
|
rs1179448549
|
0.00001
|
|
NM_015122.3(FCHO1):c.489+1G>A
|
rs2091196149
|
0.00001
|
|
NC_000014.9:g.105856013G>T
|
rs2142904095
|
|
|
NM_000022.4(ADA):c.870C>A (p.Tyr290Ter)
|
rs2065327638
|
|
|
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)
|
rs778993919
|
|
|
NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn)
|
rs2147424169
|
|
|
NM_000215.4(JAK3):c.2324G>A (p.Arg775His)
|
rs1251299279
|
|
|
NM_000215.4(JAK3):c.3103del (p.Leu1035fs)
|
rs1424732031
|
|
|
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)
|
rs193922415
|
|
|
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)
|
rs387906717
|
|
|
NM_000397.4(CYBB):c.785T>G (p.Phe262Cys)
|
rs2146813757
|
|
|
NM_000397.4(CYBB):c.804+2T>C
|
rs2146813774
|
|
|
NM_000593.6(TAP1):c.1937G>A (p.Gly646Asp)
|
rs765527607
|
|
|
NM_001013838.3(CARMIL2):c.1334+1G>T
|
rs780608299
|
|
|
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter)
|
rs1556408009
|
|
|
NM_001282933.2(ZNF341):c.1054T>C (p.Cys352Arg)
|
rs2122686345
|
|
|
NM_001369369.1(FOXN1):c.723C>A (p.Tyr241Ter)
|
rs2151491863
|
|
|
NM_001375808.2(LPIN2):c.2442+3_2442+6del
|
rs2144115996
|
|
|
NM_001972.4(ELANE):c.452G>C (p.Cys151Ser)
|
rs57246956
|
|
|
NM_001972.4(ELANE):c.574_583del (p.Gly192fs)
|
rs2145148969
|
|
|
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg)
|
rs201139487
|
|
|
NM_003135.3(SRP19):c.189+5G>A
|
rs1322282571
|
|
|
NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu)
|
rs1950780024
|
|
|
NM_004944.4(DNASE1L3):c.537G>A (p.Trp179Ter)
|
rs2107373870
|
|
|
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)
|
rs1572018284
|
|
|
NM_006118.4(HAX1):c.372_373insGATA (p.Leu125fs)
|
rs2149139969
|
|
|
NM_007315.4(STAT1):c.1015G>T (p.Val339Phe)
|
rs2125048161
|
|
|
NM_015122.3(FCHO1):c.100G>C (p.Ala34Pro)
|
rs2086875746
|
|
|
NM_015122.3(FCHO1):c.1948C>T (p.Arg650Ter)
|
rs1336566500
|
|
|
NM_015122.3(FCHO1):c.195-2A>C
|
rs2089298923
|
|
|
NM_015122.3(FCHO1):c.2023dup (p.Val675fs)
|
rs2093571190
|
|
|
NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro)
|
rs530286781
|
|
|
NM_015259.6(ICOSLG):c.499C>T (p.Pro167Ser)
|
rs2146342598
|
|
|
NM_020964.3(EPG5):c.5774del (p.Ala1925fs)
|
rs2145393546
|
|
|
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg)
|
rs2144147052
|
|
|
NM_138636.5(TLR8):c.1715G>T (p.Gly572Val)
|
rs1385657144
|
|
|
NM_138636.5(TLR8):c.2498T>C (p.Phe833Ser)
|
rs997809680
|
|
|
NM_152564.5(VPS13B):c.7020del (p.Ser2341fs)
|
rs1833108141
|
|
|
NM_183235.3(RAB27A):c.137T>G (p.Phe46Cys)
|
rs1896185846
|
|
|
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)
|
rs767481076
|
|
|
NM_203447.4(DOCK8):c.5132C>A (p.Ser1711Ter)
|
rs1554707993
|
|
|
NM_206937.2(LIG4):c.1282G>C (p.Gly428Arg)
|
rs2138974645
|
|