|
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)
|
rs116040763
|
0.00011
|
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
|
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)
|
rs369326210
|
0.00003
|
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
|
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)
|
rs766785968
|
0.00002
|
|
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln)
|
rs199474684
|
0.00001
|
|
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)
|
rs773929270
|
0.00001
|
|
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr)
|
rs587777588
|
0.00001
|
|
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)
|
rs782269909
|
0.00001
|
|
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr)
|
rs121909591
|
0.00001
|
|
NR_003051.4(RMRP):n.42G>A
|
rs1156413585
|
0.00001
|
|
NM_000043.6(FAS):c.802dup (p.Gln268fs)
|
|
|
|
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)
|
rs786203783
|
|
|
NM_000051.4(ATM):c.2528_2529del (p.Asn843fs)
|
|
|
|
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser)
|
rs1555119899
|
|
|
NM_000061.3(BTK):c.372G>T (p.Trp124Cys)
|
|
|
|
NM_000061.3(BTK):c.839+1G>C
|
rs1569292649
|
|
|
NM_000074.3(CD40LG):c.634del (p.His212fs)
|
|
|
|
NM_000271.5(NPC1):c.3591+2dup
|
rs2145342749
|
|
|
NM_000377.3(WAS):c.315dup (p.Val106fs)
|
|
|
|
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)
|
|
|
|
NM_000377.3(WAS):c.778-1G>A
|
rs2147265861
|
|
|
NM_000448.3(RAG1):c.1003T>C (p.Cys335Arg)
|
rs2133294899
|
|
|
NM_000448.3(RAG1):c.256A>T (p.Lys86Ter)
|
|
|
|
NM_000448.3(RAG1):c.540G>A (p.Trp180Ter)
|
|
|
|
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)
|
rs757934797
|
|
|
NM_001012339.3(DNAJC21):c.1004C>A (p.Ser335Ter)
|
|
|
|
NM_001013838.3(CARMIL2):c.2313+1G>A
|
rs765817045
|
|
|
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
|
|
|
|
NM_001099857.5(IKBKG):c.41_56dup (p.Pro20fs)
|
rs2148368738
|
|
|
NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr)
|
rs180177503
|
|
|
NM_001364905.1(LRBA):c.1319del (p.Pro440fs)
|
|
|
|
NM_001364905.1(LRBA):c.2767-2A>G
|
rs1350061017
|
|
|
NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)
|
|
|
|
NM_001364905.1(LRBA):c.5645+1G>C
|
|
|
|
NM_001367916.1(MAGT1):c.468dup (p.Gln157fs)
|
|
|
|
NM_001734.5(C1S):c.1729_1730del (p.Asp577fs)
|
|
|
|
NM_002524.5(NRAS):c.449A>G (p.Gln150Arg)
|
rs2101738598
|
|
|
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn)
|
rs121918460
|
|
|
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
|
|
|
|
NM_003183.6(ADAM17):c.1344+1G>A
|
|
|
|
NM_004119.3(FLT3):c.2533A>G (p.Arg845Gly)
|
|
|
|
NM_004523.4(KIF11):c.1513_1516del (p.Glu505fs)
|
|
|
|
NM_004523.4(KIF11):c.422A>T (p.His141Leu)
|
rs1844462612
|
|
|
NM_004523.4(KIF11):c.473del (p.Val158fs)
|
rs2135902435
|
|
|
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile)
|
rs121913459
|
|
|
NM_005251.3(FOXC2):c.1221del (p.Gln407fs)
|
rs2144020781
|
|
|
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter)
|
rs104894516
|
|
|
NM_005633.4(SOS1):c.805A>G (p.Met269Val)
|
|
|
|
NM_005633.4(SOS1):c.925G>A (p.Asp309Asn)
|
rs397517180
|
|
|
NM_006060.6(IKZF1):c.1275dup (p.Leu426fs)
|
|
|
|
NM_006397.3(RNASEH2A):c.717del (p.Thr240fs)
|
rs1403542725
|
|
|
NM_006785.4(MALT1):c.1950del (p.Pro651fs)
|
rs2144491203
|
|
|
NM_012250.6(RRAS2):c.67G>A (p.Gly23Ser)
|
|
|
|
NM_014639.4(SKIC3):c.231G>A (p.Trp77Ter)
|
rs755681347
|
|
|
NM_014639.4(SKIC3):c.2842G>T (p.Glu948Ter)
|
rs2112308481
|
|
|
NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)
|
|
|
|
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)
|
rs769399833
|
|
|
NM_022168.4(IFIH1):c.317C>A (p.Ser106Ter)
|
rs764380346
|
|
|
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
|
|
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
|
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg)
|
rs869312888
|
|
|
NM_144687.4(NLRP12):c.770del (p.Gln257fs)
|
rs2122677940
|
|
|
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter)
|
rs747644844
|
|
|
NM_181078.3(IL21R):c.946del (p.Val316fs)
|
rs2141318549
|
|