SAMD9L | Belgian Genetic Tests database

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Name:	sterile alpha motif domain containing 9 like
Symbol:	SAMD9L
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	FLJ39885 KIAA2005
XREF(s):	Orphanet HGNC OMIM Genatlas SwissProt Ensembl
Created:	13 May 2019 - 01:01
Changed:	26 Oct 2023 - 23:49

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Ataxia (141 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
BEAN1	85.90	NM_001178020.2
KCNC3	88.90	NM_004977.2
SYT14	92.90	NM_001146261.2
PTF1A	94.90	NM_178161.2
ATXN10	95.40	NM_013236.3
ATXN2	96.20	NM_002973.3
FXN	96.40	NM_000144.4
ATXN3	97.20	NM_004993.5
TTC19	98.00	NM_017775.3
ATXN7	98.00	NM_000333.3
ABHD12	98.00	NM_001042472.2
FMR1	98.50	NM_002024.5
DAB1	98.80	NM_021080.4
CACNA2D2	98.90	NM_006030.3
APTX	99.00	NM_175073.2
TBP	99.30	NM_003194.4
CLN6	99.30	NM_017882.2
EIF2B2	99.50	NM_014239.3
CP	99.50	NM_000096.3
DNMT1	99.50	NM_001130823.2
MTPAP	99.50	NM_018109.3
PRRT2	99.60	NM_145239.2
DARS2	99.70	NM_018122.4
PNKP	99.80	NM_007254.3
CLCN2	99.80	NM_004366.5
PNPLA6	99.80	NM_006702.4
CACNA1A	99.80	NM_001127221.1
ATN1	99.80	NM_001007026.1
AFG3L2	99.80	NM_006796.2
AMPD2	99.80	NM_001257360.1
TRPC3	99.80	NM_001130698.1
GRM1	99.90	NM_001278064.1
TPP1	99.90	NM_000391.3
CACNA1G	99.90	NM_018896.4
ATP8A2	99.90	NM_016529.5
NPC1	99.90	NM_000271.4
PRKCG	99.90	NM_002739.4
SPG7	99.90	NM_003119.3
ATXN1	99.90	NM_000332.3
IFRD1	99.90	NM_001550.3
NKX6-2	99.90	NM_177400.2
TK2	99.90	NM_004614.4
TGM6	99.90	NM_198994.2
COX20	99.90	NM_198076.5
SLC9A1	100.00	NM_003047.4
TTPA	100.00	NM_000370.3
ATP2B3	100.00	NM_001001344.2
EIF2B4	100.00	NM_015636.3
PEX7	100.00	NM_000288.3
ANO10	100.00	NM_018075.4
SPTBN2	100.00	NM_006946.3
ITPR1	100.00	NM_002222.5
RUBCN	100.00	NM_001145642.4
PEX10	100.00	NM_153818.1
TMEM240	100.00	NM_001114748.1
WDR81	100.00	NM_001163809.1
CACNB4	100.00	NM_000726.4
ATM	100.00	NM_000051.3
VWA3B	100.00	NM_144992.4
AP1S2	100.00	NM_003916.4
SYNE1	100.00	NM_033071.3
SCYL1	100.00	NM_020680.3
STUB1	100.00	NM_005861.3
SLC1A3	100.00	NM_004172.4
LAMA1	100.00	NM_005559.3
NOP56	100.00	NM_006392.3
CYP27A1	100.00	NM_000784.3
KCNA1	100.00	NM_000217.2
SETX	100.00	NM_015046.6
CLN5	100.00	NM_006493.2
EIF2B3	100.00	NM_020365.4
PUM1	100.00	NM_001020658.1
MRE11	100.00	NM_005591.3
WWOX	100.00	NM_016373.3
GFAP	100.00	NM_002055.4
VLDLR	100.00	NM_003383.4
GBA2	100.00	NM_020944.2
KIF1C	100.00	NM_006612.5
CWF19L1	100.00	NM_018294.5
CCDC88C	100.00	NM_001080414.3
SACS	100.00	NM_014363.5
AAAS	100.00	NM_015665.5
ABCB7	100.00	NM_004299.5
ACO2	100.00	NM_001098.2
ARSA	100.00	NM_000487.5
ATCAY	100.00	NM_033064.4
ATG5	100.00	NM_004849.3
ATP1A3	100.00	NM_152296.5
CA8	100.00	NM_004056.5
CAPN1	100.00	NM_001198868.1
COQ8A	100.00	NM_020247.4
DNAJC19	100.00	NM_145261.3
DNAJC3	100.00	NM_006260.4
DNAJC5	100.00	NM_025219.2
EEF2	100.00	NM_001961.3
EIF2B1	100.00	NM_001414.3
EIF2B5	100.00	NM_003907.2
ELOVL4	100.00	NM_022726.3
ELOVL5	100.00	NM_021814.4
EXOSC3	100.00	NM_016042.3
FGF14	100.00	NM_004115.3
FLVCR1	100.00	NM_014053.3
FOLR1	100.00	NM_016725.2
GOSR2	100.00	NM_004287.4
GRID2	100.00	NM_001510.3
HEXA	100.00	NM_000520.5
HEXB	100.00	NM_000521.3
KCND3	100.00	NM_004980.4
KCNJ10	100.00	NM_002241.4
MARS2	100.00	NM_138395.3
MME	100.00	NM_007289.3
MTTP	100.00	NM_000253.3
NPC2	100.00	NM_006432.3
OPA1	100.00	NM_015560.2
PDYN	100.00	NM_024411.4
PHYH	100.00	NM_006214.3
PIK3R5	100.00	NM_001142633.2
PMM2	100.00	NM_000303.2
PMPCA	100.00	NM_015160.2
POLG	100.00	NM_002693.2
POLR3A	100.00	NM_007055.3
PPP2R2B	100.00	NM_181678.2
PRICKLE1	100.00	NM_153026.2
RNF170	100.00	NM_001160223.1
RNF216	100.00	NM_207111.3
SAMD9L	100.00	NM_152703.4
SEPSECS	100.00	NM_016955.3
SIL1	100.00	NM_022464.4
SLC52A2	100.00	NM_024531.4
SNX14	100.00	NM_153816.5
SRD5A3	100.00	NM_024592.4
TDP1	100.00	NM_018319.3
TDP2	100.00	NM_016614.2
TTBK2	100.00	NM_173500.3
TUBB4A	100.00	NM_006087.3
TWNK	100.00	NM_021830.4
VAMP1	100.00	NM_014231.4
WFS1	100.00	NM_006005.3
XRCC1	100.00	NM_006297.2
ZNF592	100.00	NM_014630.2
ATXN8OS	100.00	NG_016173.1

Ataxia (348 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AAAS	100.00	No comment
ABCB7	99.99	No comment
ABCD1	97.56	No comment
ABHD12	88.30	No comment
ABHD5	99.85	No comment
ACADVL	98.04	No comment
ACO2	100.00	No comment
COQ8A	99.92	No comment
AFG3L2	94.80	No comment
AHI1	100.00	No comment
ALAS2	100.00	No comment
ALDH18A1	100.00	No comment
ALDH5A1	84.13	No comment
ALG6	100.00	No comment
ALS2	100.00	No comment
AMACR	96.78	No comment
AMPD2	99.90	No comment
AMT	100.00	No comment
ANO10	100.00	No comment
AP1S2	100.00	No comment
APTX	99.96	No comment
ARL13B	99.98	No comment
ARL6	100.00	No comment
ARSA	100.00	No comment
ARX	100.00	No comment
ASPA	100.00	No comment
ATCAY	100.00	No comment
ATG5	100.00	No comment
ATL1	99.89	No comment
ATM	100.00	No comment
ATP1A3	100.00	No comment
ATP2B2	100.00	No comment
ATP2B3	99.89	No comment
ATP7B	100.00	No comment
ATP8A2	99.91	No comment
ATXN1	100.00	No comment
ATXN10	98.19	No comment
ATXN2	93.25	No comment
ATXN3	99.47	No comment
ATXN7	98.67	No comment
B9D1	99.89	No comment
BBS1	100.00	No comment
BBS10	100.00	No comment
BBS12	100.00	No comment
BBS2	100.00	No comment
BBS4	99.97	No comment
BBS5	100.00	No comment
BBS7	99.99	No comment
BBS9	99.93	No comment
BEAN1	100.00	No comment
BIVM	100.00	No comment
BSCL2	100.00	No comment
BTD	100.00	No comment
TWNK	100.00	No comment
MTRFR	100.00	No comment
C19ORF12	100.00	No comment
CPLANE1	100.00	No comment
CA8	100.00	No comment
CACNA1A	99.53	No comment
CACNA1G	99.97	No comment
CACNB4	99.95	No comment
CAMTA1	99.98	No comment
CAPN1	99.97	No comment
CASK	99.99	No comment
CC2D2A	100.00	No comment
CCDC88C	99.64	No comment
CEP290	100.00	No comment
CEP41	100.00	No comment
CHMP1A	100.00	No comment
CLCN2	100.00	No comment
CLN5	98.80	No comment
CLN6	90.40	No comment
CLPP	97.95	No comment
COA7	100.00	No comment
COASY	100.00	No comment
COG5	99.95	No comment
COQ2	99.66	No comment
COQ6	100.00	No comment
COQ9	100.00	No comment
COX20	95.39	No comment
CP	100.00	No comment
CRAT	99.29	No comment
CSTB	98.75	No comment
CWF19L1	100.00	No comment
CYP27A1	99.38	No comment
CYP2U1	93.20	No comment
CYP7B1	95.41	No comment
DARS1	100.00	No comment
DARS2	100.00	No comment
DDB2	100.00	No comment
DDHD2	100.00	No comment
DLAT	100.00	No comment
DMXL2	100.00	No comment
DNAJC19	99.65	No comment
DNAJC3	99.99	No comment
DNAJC5	100.00	No comment
DNMT1	99.54	No comment
EBF3	99.94	No comment
EEF2	100.00	No comment
EIF2B1	100.00	No comment
EIF2B2	99.61	No comment
EIF2B3	98.87	No comment
EIF2B4	100.00	No comment
EIF2B5	100.00	No comment
ELOVL4	100.00	No comment
ELOVL5	100.00	No comment
EPM2A	97.21	No comment
ERCC2	99.22	No comment
ERCC3	100.00	No comment
ERCC4	99.99	No comment
ERCC5	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
EXOSC3	100.00	No comment
FA2H	95.71	No comment
FARS2	100.00	No comment
FBXL4	100.00	No comment
FDXR	100.00	No comment
FGF14	100.00	No comment
FLVCR1	100.00	No comment
FMR1	99.99	No comment
FOLR1	100.00	No comment
FRMD7	99.98	No comment
FXN	100.00	No comment
GALC	98.98	No comment
GBA1	100.00	No comment
GBA2	100.00	No comment
GBE1	100.00	No comment
GCDH	100.00	No comment
GCLC	99.98	No comment
GCSH	73.97	No comment
GFAP	100.00	No comment
GJC2	96.72	No comment
GLB1	100.00	No comment
GLDC	97.39	No comment
GLRX5	100.00	No comment
GM2A	100.00	No comment
GOSR2	100.00	No comment
GPAA1	95.08	No comment
GPR143	89.09	No comment
ADGRG1	99.99	No comment
GRID2	100.00	No comment
GRM1	99.99	No comment
GSS	100.00	No comment
HARS2	100.00	No comment
HEPACAM	99.85	No comment
HERC1	100.00	No comment
HEXA	100.00	No comment
HEXB	99.19	No comment
HIBCH	100.00	No comment
HPRT1	92.71	No comment
HTRA1	75.65	No comment
IFRD1	98.86	No comment
IGDCC3	95.07	No comment
INPP5E	99.14	No comment
IRF2BPL	97.56	No comment
ITM2B	100.00	No comment
ITPR1	99.99	No comment
KCNA1	100.00	No comment
KCNC3	76.20	No comment
KCND3	100.00	No comment
KCNJ10	100.00	No comment
KCNJ6	100.00	No comment
KCNMA1	99.93	No comment
WASHC5	100.00	No comment
RUBCN	96.60	No comment
NEXMIF	100.00	No comment
KIF1A	98.74	No comment
KIF1C	100.00	No comment
KIF5A	100.00	No comment
KIF5C	100.00	No comment
KIF7	99.64	No comment
L2HGDH	99.75	No comment
LAMA1	99.79	No comment
LAMB1	100.00	No comment
LARS2	100.00	No comment
LMNB1	97.00	No comment
LRPPRC	98.80	No comment
LYST	100.00	No comment
MFSD8	100.00	No comment
MKKS	100.00	No comment
MKS1	100.00	No comment
MLC1	98.57	No comment
MMACHC	100.00	No comment
MME	100.00	No comment
MRE11	99.05	No comment
MSTO1	99.96	No comment
MTFMT	97.83	No comment
MTPAP	99.98	No comment
MTRR	100.00	No comment
MTTP	100.00	No comment
MVK	100.00	No comment
NANS	100.00	No comment
NDUFAF6	95.61	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS4	99.96	No comment
NDUFS7	93.34	No comment
NDUFS8	100.00	No comment
NDUFV1	99.62	No comment
NEFL	99.62	No comment
NEU1	100.00	No comment
NHLRC1	96.01	No comment
NKX6-2	94.10	No comment
NOL3	100.00	No comment
NOP56	99.99	No comment
NOTCH3	93.46	No comment
NPC1	97.50	No comment
NPC2	100.00	No comment
NPHP1	100.00	No comment
NUBPL	99.92	No comment
OCLN	100.00	No comment
OFD1	97.13	No comment
MED12	99.98	No comment
OPA3	100.00	No comment
OPHN1	99.94	No comment
OTUD4	100.00	No comment
PAX6	100.00	No comment
PDGFRB	99.98	No comment
PDHX	100.00	No comment
PDSS1	85.11	No comment
PDSS2	100.00	No comment
PDYN	100.00	No comment
PEX10	87.10	No comment
PEX16	99.97	No comment
PEX2	100.00	No comment
PEX7	95.60	No comment
PHYH	99.81	No comment
PIK3R5	100.00	No comment
PLA2G6	100.00	No comment
PLEKHG4	100.00	No comment
PLP1	100.00	No comment
PMM2	100.00	No comment
PMPCA	100.00	No comment
PNKD	99.93	No comment
PNKP	99.84	No comment
PNPLA6	99.95	No comment
POLG	100.00	No comment
POLH	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
PPP2R2B	100.00	No comment
PRICKLE1	100.00	No comment
PRKCG	100.00	No comment
PRNP	99.92	No comment
PRPS1	99.91	No comment
PRRT2	100.00	No comment
PTEN	99.45	No comment
PUM1	100.00	No comment
RAB18	99.99	No comment
RAB3A	100.00	No comment
RAB3GAP1	100.00	No comment
RARS2	100.00	No comment
RELN	100.00	No comment
RNASEH2A	100.00	No comment
RNASEH2C	100.00	No comment
RNF170	100.00	No comment
RNF216	100.00	No comment
RPGRIP1L	96.40	No comment
RRM2B	100.00	No comment
SACS	99.95	No comment
SAMD9L	100.00	No comment
SAMHD1	100.00	No comment
SAR1B	100.00	No comment
SCN8A	100.00	No comment
SEC16A	99.98	No comment
SEPSECS	99.57	No comment
SERAC1	100.00	No comment
SETX	100.00	No comment
SIL1	99.95	No comment
SKOR1	98.57	No comment
SLC16A2	99.97	No comment
SLC17A5	100.00	No comment
SLC19A3	99.90	No comment
SLC1A3	100.00	No comment
SLC20A2	100.00	No comment
SLC25A15	100.00	No comment
SLC25A46	100.00	No comment
SLC2A1	100.00	No comment
SLC39A8	98.92	No comment
SLC52A2	100.00	No comment
SLC52A3	99.86	No comment
SLC9A1	100.00	No comment
SLC9A6	99.66	No comment
SMPD1	100.00	No comment
SNX14	99.98	No comment
SPAST	99.83	No comment
SPG11	100.00	No comment
SPG7	95.78	No comment
SPR	99.98	No comment
SPTBN2	99.93	No comment
SRD5A3	98.61	No comment
STUB1	99.69	No comment
SYNE1	100.00	No comment
SYT14	92.28	No comment
TANGO2	99.94	No comment
TBC1D20	95.06	No comment
TBCC	100.00	No comment
TBP	100.00	No comment
TCTN1	100.00	No comment
TCTN2	100.00	No comment
TCTN3	100.00	No comment
TDP1	100.00	No comment
TDP2	100.00	No comment
TGM6	100.00	No comment
TK2	100.00	No comment
TMEM138	100.00	No comment
TMEM216	99.87	No comment
TMEM231	100.00	No comment
TMEM237	99.85	No comment
TMEM240	96.75	No comment
TMEM67	99.95	No comment
ACD	99.99	No comment
TRIM32	100.00	No comment
TRPC3	99.48	No comment
TSEN2	100.00	No comment
TSEN34	100.00	No comment
TSEN54	91.60	No comment
TSFM	100.00	No comment
TTBK2	100.00	No comment
TTC19	100.00	No comment
TTC8	99.73	No comment
TTPA	96.80	No comment
TUBB4A	100.00	No comment
TUBG1	100.00	No comment
TYMP	100.00	No comment
UBA5	100.00	No comment
VAMP1	100.00	No comment
VLDLR	96.00	No comment
VPS13A	100.00	No comment
VPS13B	100.00	No comment
VPS13D	100.00	No comment
VRK1	100.00	No comment
VWA3B	100.00	No comment
WDPCP	99.11	No comment
WDR73	100.00	No comment
WDR81	99.63	No comment
WFS1	100.00	No comment
WWOX	100.00	No comment
XPA	98.10	No comment
XPC	100.00	No comment
XPR1	99.91	No comment
XRCC1	99.95	No comment
ZC4H2	100.00	No comment
ZFYVE26	100.00	No comment
ZNF423	100.00	No comment
ZNF592	100.00	No comment

Ataxia Spasticity - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AAAS	99.88	1
AARS1	99.99	1
ABCA2	100.00	1
ABCB7	99.58	1
ABCD1	99.98	1
ABHD12	99.98	1
ACO2	99.99	1
ADAR	99.84	1
ADGRG1	99.90	1
ADPRS	99.94	1
AFG3L2	99.97	1
AGTPBP1	99.68	1
AHI1	99.86	1
AIFM1	99.92	1
AIMP1	99.97	1
ALDH18A1	99.96	1
ALDH5A1	96.19	1
ALG6	93.37	1
ALS2	99.87	1
AMPD2	99.91	1
ANO10	99.93	1
AP4B1	96.92	1
AP4E1	99.94	1
AP4M1	99.98	1
AP4S1	87.89	1
AP5Z1	100.00	1
APOB	99.99	1
APTX	99.92	1
ARG1	99.95	1
ARL13B	99.53	1
ARL6IP1	99.51	1
ARSA	99.99	1
ARSI	100.00	1
ARX	95.36	1
ASPA	99.98	1
ATCAY	100.00	1
ATG5	99.81	1
ATL1	99.95	1
ATM	99.83	1
ATP13A2	99.96	1
ATP1A3	99.98	1
ATP2B3	99.98	1
ATP7B	100.00	1
ATP8A2	100.00	1
AUH	99.95	1
B4GALNT1	99.97	1
BCKDHA	99.97	1
BCKDHB	99.73	1
BCL11B	100.00	1
BCS1L	99.99	1
BICD2	99.99	1
BSCL2	99.99	1
BTD	100.00	1
C19ORF12	99.99	1
CA8	99.71	1
CACNA1A	98.16	1
CACNA1E	99.82	1
CACNA1G	99.95	1
CACNB4	99.20	1
CAMTA1	99.97	1
CAPN1	99.99	1
CC2D2A	99.95	1
CCDC88C	100.00	1
CCT5	99.99	1
CDK16	99.99	1
CEP290	98.10	1
CHP1	99.90	1
CLCN2	100.00	1
CNTNAP1	99.98	1
COA7	99.91	1
COQ2	99.90	1
COQ4	100.00	1
COQ8A	100.00	1
COQ9	99.62	1
COX10	99.99	1
COX15	100.00	1
COX20	99.67	1
CP	99.95	1
CPT1C	99.99	1
CSTB	100.00	1
CTBP1	99.98	1
CWF19L1	99.91	1
CYP27A1	100.00	1
CYP2U1	99.99	1
CYP7B1	99.82	1
DAB1	97.87	1
DARS1	98.85	1
DARS2	98.31	1
DBT	94.51	1
DDHD1	99.93	1
DDHD2	99.97	1
DDX3X	99.01	1
DEGS1	99.99	1
DLAT	99.65	1
DLD	99.89	1
DNAJC19	99.76	1
DNAJC3	99.92	1
DNAJC5	99.99	1
DNMT1	99.13	1
DOCK3	99.96	1
EARS2	99.96	1
EBF3	99.99	1
ECHS1	100.00	1
EEF2	99.95	1
EIF2AK1	99.90	1
ELOVL1	100.00	1
ELOVL4	99.91	1
ELOVL5	99.87	1
EMC1	99.85	1
ENTPD1	99.98	1
EPM2A	99.99	1
ERCC1	99.96	1
ERCC4	99.92	1
ERCC8	99.79	1
ERLIN1	99.98	1
ERLIN2	99.94	1
EXOSC3	100.00	1
FA2H	99.98	1
FARS2	100.00	1
FASTKD2	99.93	1
FAT2	99.99	1
FGF14	99.99	1
FITM2	99.99	1
FLRT1	100.00	1
FLVCR1	99.91	1
FOLR1	100.00	1
FRMD4A	100.00	1
FRMD7	99.97	1
GALC	99.92	1
GAN	99.98	1
GBA2	99.99	1
GBE1	99.73	1
GDAP2	95.02	1
GFAP	99.99	1
GFM2	99.87	1
GJC2	100.00	1
GLB1	100.00	1
GLRX5	100.00	1
GLS	99.78	1
GM2A	100.00	1
GOSR2	98.92	1
GPR143	99.60	1
GRID2	99.97	1
GRIN1	100.00	1
GRM1	100.00	1
GRN	100.00	1
GSX2	100.00	1
HACE1	99.76	1
HEXA	99.99	1
HEXB	99.91	1
HSD17B10	99.98	1
HSD17B4	99.71	1
HSPD1	83.42	1
IBA57	100.00	1
IFIH1	99.84	1
IFRD1	99.67	1
IFT140	100.00	1
INTS8	99.89	1
IRF2BPL	99.21	1
ISCA1	99.79	1
ITM2B	99.85	1
ITPR1	99.98	1
JAM2	91.82	1
KANK1	99.99	1
KCNA1	100.00	1
KCNA2	99.99	1
KCNA4	100.00	1
KCNC3	99.98	1
KCND3	99.98	1
KCNJ10	99.98	1
KCNJ6	100.00	1
KCNMA1	99.89	1
KCNQ2	100.00	1
KCTD7	99.98	1
KIDINS220	99.94	1
KIF1A	99.96	1
KIF1C	99.99	1
KIF5A	99.91	1
KLC2	100.00	1
L1CAM	99.98	1
L2HGDH	99.92	1
LAMA1	99.98	1
LAMB1	99.87	1
LIPT2	99.99	1
LYRM7	99.98	1
LYST	99.87	1
ERCC2	99.99	1
MAN2B1	99.99	1
MARS1	99.97	1
MARS2	100.00	1
MCOLN1	100.00	1
MECP2	99.95	1
MLC1	99.99	1
MMADHC	99.76	1
MME	97.17	1
MPV17	99.98	1
MRE11	99.93	1
MRPS34	100.00	1
MSTO1	76.34	1
MTCL1	100.00	1
MTPAP	99.97	1
MTRFR	99.87	1
MTTP	99.92	1
MYORG	99.99	1
NANS	100.00	1
NDUFA9	100.00	1
NDUFAF4	99.95	1
NDUFAF6	99.86	1
NDUFS1	99.79	1
NDUFS3	100.00	1
NDUFS7	99.99	1
NEFL	100.00	1
NEU1	99.98	1
NEXMIF	99.99	1
NF2	100.00	1
NHLRC1	100.00	1
NIPA1	99.91	1
NKX6-2	100.00	1
NOL3	100.00	1
NPC1	99.99	1
NPC2	100.00	1
NT5C2	99.96	1
NTNG2	99.98	1
NUP93	99.87	1
NUS1	99.90	1
OCLN	82.91	1
OFD1	99.68	1
MED12	99.95	1
OPA3	100.00	1
OPHN1	99.92	1
OTC	99.42	1
PARS2	99.99	1
PODXL	99.99	1
PCDH12	100.00	1
PCYT2	100.00	1
PDHA1	99.04	1
PDHX	99.64	1
PDYN	100.00	1
PEX10	100.00	1
PEX16	99.94	1
PEX7	99.72	1
PGAP1	99.56	1
PHYH	100.00	1
PIK3R5	99.99	1
PLA2G6	99.98	1
PLAA	99.79	1
PLD3	99.99	1
PLP1	99.98	1
PMM2	99.93	1
PMPCA	99.99	1
PMPCB	99.94	1
PNKP	100.00	1
PNPLA6	99.99	1
POLG	100.00	1
POLR3A	99.97	1
POLR3B	99.94	1
PRF1	100.00	1
PRKCG	99.99	1
PRNP	100.00	1
PRPS1	99.95	1
PRRT2	99.97	1
PSAP	99.94	1
PSEN1	100.00	1
PTPN23	100.00	1
PTRH2	99.99	1
PUM1	98.14	1
RAB11B	100.00	1
RAB18	99.76	1
RAB3GAP1	99.73	1
RAB3GAP2	99.69	1
REEP1	99.97	1
REEP2	99.99	1
RETREG1	99.99	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNF168	99.97	1
RNF170	99.90	1
RNF216	99.99	1
RORA	99.97	1
RPGRIP1L	96.35	1
RTN2	99.98	1
RTN4IP1	99.98	1
RUBCN	100.00	1
SACS	99.97	1
SAMD9L	99.95	1
SAMHD1	99.98	1
SARS1	98.53	1
SCN8A	99.77	1
SCYL1	100.00	1
SDHA	99.98	1
SDHAF1	99.99	1
SDHD	82.93	1
SEPSECS	99.78	1
SETX	99.97	1
SIL1	99.95	1
SLC13A5	99.99	1
SLC16A2	99.97	1
SLC17A5	99.71	1
SLC19A3	99.95	1
SLC1A3	99.98	1
SLC1A4	99.97	1
SLC25A15	100.00	1
SLC25A46	99.88	1
SLC2A1	99.93	1
SLC33A1	99.67	1
SLC44A1	99.90	1
SLC52A2	100.00	1
SLC52A3	99.94	1
SLC6A8	99.99	1
SLC9A1	99.96	1
SLC9A6	99.42	1
SMPD1	100.00	1
SNAP25	99.89	1
SNX14	99.73	1
SOX10	100.00	1
SPART	99.98	1
SPAST	99.77	1
SPG11	99.89	1
SPG21	99.97	1
SPG7	99.99	1
SPR	99.99	1
SPTAN1	99.96	1
SPTBN2	99.98	1
SQSTM1	100.00	1
SRD5A3	99.94	1
STUB1	99.99	1
SUCLA2	99.96	1
SUOX	100.00	1
SURF1	100.00	1
SVBP	99.04	1
SYNE1	99.95	1
SYT14	99.94	1
TANGO2	99.85	1
TBC1D20	100.00	1
TDP1	99.97	1
TDP2	99.97	1
TECPR2	99.96	1
TENM3	99.99	1
TFG	98.68	1
TGM6	99.99	1
THG1L	99.99	1
TMEM216	99.98	1
TMEM231	88.88	1
TMEM240	99.99	1
TMEM67	99.69	1
TMX2	99.99	1
ACD	99.99	1
TRAK1	99.98	1
TRAPPC12	99.96	1
TRAPPC4	100.00	1
TRIT1	99.25	1
TRPC3	99.97	1
TSEN2	99.98	1
TSEN54	100.00	1
TTBK2	99.93	1
TTC19	99.99	1
TTPA	99.88	1
TUBA1A	99.97	1
TUBB4A	100.00	1
TUBG1	99.95	1
TWNK	100.00	1
UBA5	99.95	1
UBAP1	99.51	1
UBTF	99.99	1
UCHL1	99.99	1
UFC1	99.35	1
UFM1	99.25	1
UGP2	99.85	1
USP8	99.67	1
VAMP1	100.00	1
VCP	99.99	1
VLDLR	99.99	1
VPS13B	99.90	1
VPS13D	99.96	1
VPS37A	99.96	1
VRK1	99.98	1
VWA3B	98.82	1
WARS2	97.72	1
WASHC5	99.98	1
WDR45B	100.00	1
WDR48	99.42	1
WDR73	99.92	1
WDR81	100.00	1
WWOX	100.00	1
XRCC1	99.96	1
ZC4H2	99.98	1
ZFR	99.94	1
ZFYVE26	100.00	1
ZFYVE27	99.99	1

Hematologic Familiar Forms - ULG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
RPS7	88.11	No
CHEK2	80.48	No
PTPN11	95.76	No
KRAS	96.88	No
RPS10	98.48	No
FANCM	97.86	No
RPL35A	98.16	No
RPS24	98.39	No
ANKRD26	100.00	Genomic start 27389256 to genomic end 27389427 UTR position
RPL5	96.83	No
SHQ1	97.53	No
RPS26	98.64	No
SRP72	97.98	No
FANCL	98.99	No
EGLN1	98.71	No
JAK2	97.81	No
DNAJC21	98.55	No
NF1	96.15	No
BLM	98.77	No
SBF2	99.19	No
MSH2	98.36	No
ATM	98.90	No
ERCC4	98.33	No
RPL11	99.02	No
NBN	99.57	No
PMS2	98.87	No
ATG2B	99.33	No
BRCA2	99.11	No
ERCC6L2	99.48	No
ATR	99.19	No
VPS45	99.60	No
SRP54	99.44	No
SBDS	96.51	No
UBE2T	98.01	No
RBM8A	99.34	No
RAD51C	99.83	No
FANCC	99.72	No
FANCD2	99.00	No
BRIP1	99.61	No
BRCA1	99.80	No
CEBPA	99.48	No
PARN	99.84	No
MSH6	99.84	No
MECOM	99.83	No
PALB2	99.80	No
FANCE	97.83	No
PAX5	99.72	No
RAD51	99.94	No
ATRX	99.85	No
FANCB	99.61	No
FANCI	99.66	No
STN1	99.75	No
NHP2	99.79	No
MLH1	99.86	No
TERT	100.00	Genomic start 1295105 to genomic end 1295162 UTR position
XRCC2	99.97	No
FANCA	99.93	No
EPAS1	99.62	No
TET2	99.97	No
HAX1	99.98	No
SLX4	99.98	No
CBL	99.87	No
WAS	99.90	No
USB1	100.00	No
EPO	99.99	No
VHL	99.98	No
MAD2L2	100.00	No
RUNX1	99.94	No
CTC1	99.99	No
GSKIP	99.99	No
DKC1	100.00	Genomic start 153991031 to genomic end 153991240 UTR position
SAMD9L	99.96	No
MPL	99.99	No
ETV6	100.00	No
LIG4	99.98	No
NOP10	99.99	No
G6PC3	100.00	No
CSF3R	100.00	No
SAMD9	100.00	No
ELANE	100.00	No
GATA2	100.00	No
RPS19	100.00	No
GFI1	100.00	No
FANCF	100.00	No
TPP1	99.99	No
FANCG	100.00	No
WRAP53	100.00	No
TP53	100.00	No
TINF2	100.00	No
EPOR	100.00	No
DDX41	100.00	No
THPO	100.00	No
TERC	100.00	Genomic start 169482849 to genomic end 169483098 UTR position
RTEL1	100.00	Genomic start 62326911 to genomic end 62326911 and genomic start 62326900 to genomic end 62326928 and genomic start 62326958 to genomic end 62326986 intronic positions and 99.98 for CDS

Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AMPD2	99.99	1
AP4B1	99.97	1
ATP13A2	99.98	1
CAMTA1	99.97	1
COA7	100.00	1
COQ8A	100.00	1
COX20	99.40	1
DARS2	99.86	1
EIF2B3	99.95	1
FLVCR1	99.93	1
GDAP2	99.96	1
GJC2	96.12	1
HPDL	100.00	1
IBA57	96.45	1
KCNA2	100.00	1
KCND3	100.00	1
MMACHC	99.99	1
MSTO1	98.87	1
PUM1	99.95	1
RNF220	99.95	1
SLC9A1	99.86	1
TMEM240	99.83	1
TOE1	99.99	1
VPS13D	99.85	1
ALDH18A1	99.96	1
CWF19L1	99.89	1
ENTPD1	99.90	1
ERLIN1	99.96	1
NKX6-2	96.38	1
NT5C2	99.89	1
PHYH	99.65	1
POLR3A	99.95	1
ATM	99.83	1
BSCL2	100.00	1
CAPN1	100.00	1
CLP1	100.00	1
FAR1	99.83	1
HIKESHI	99.89	1
MRE11	99.90	1
SCYL1	99.64	1
SPTBN2	99.99	1
TPP1	99.88	1
AAAS	99.98	1
B4GALNT1	99.95	1
EIF2B1	99.96	1
KCNA1	99.96	1
KIF5A	99.93	1
MTRFR	99.85	1
PRICKLE1	99.97	1
SCN8A	99.90	1
VAMP1	99.70	1
ATP7B	99.99	1
ATP8A2	99.96	1
EXOSC8	99.69	1
FGF14	99.79	1
KPNA3	99.96	1
SACS	99.98	1
SPART	99.99	1
AP4S1	87.70	1
ATL1	99.95	1
DDHD1	99.98	1
EIF2B2	99.84	1
GALC	99.88	1
GCH1	99.74	1
GLRX5	98.29	1
IRF2BPL	98.65	1
NPC2	99.99	1
TMEM63C	99.99	1
VRK1	99.94	1
ZFYVE26	99.96	1
AP4E1	99.89	1
CLN6	98.04	1
HEXA	99.98	1
NIPA1	96.26	1
POLG	99.98	1
SPG11	99.94	1
SPG21	99.99	1
TTBK2	99.88	1
WDR73	99.99	1
ARL6IP1	99.84	1
CHMP1A	100.00	1
FA2H	99.93	1
SPG7	99.99	1
STUB1	99.73	1
CACNA1G	99.89	1
COASY	99.98	1
GFAP	99.94	1
GOSR2	99.75	1
KIF1C	99.99	1
NPTX1	99.35	1
PCYT2	97.60	1
TSEN54	98.24	1
VPS53	99.98	1
WDR45B	99.96	1
WDR81	100.00	1
AFG3L2	99.82	1
NPC1	99.84	1
ATCAY	99.99	1
ATP1A3	99.99	1
C19ORF12	99.36	1
CACNA1A	99.66	1
CPT1C	99.99	1
DNMT1	99.88	1
EEF2	99.99	1
KCNC3	94.29	1
MAG	99.81	1
OPA3	100.00	1
PNKP	100.00	1
PNPLA6	99.88	1
PRKCG	99.90	1
RTN2	99.99	1
TUBB4A	98.81	1
ALS2	99.91	1
ATP5MC3	100.00	1
CYP27A1	99.96	1
DARS1	99.87	1
EIF2B4	99.94	1
HSPD1	99.95	1
KIDINS220	99.97	1
KIF1A	99.96	1
MARS2	100.00	1
PGAP1	99.64	1
REEP1	99.99	1
SELENOI	99.88	1
SLC1A4	99.95	1
SPAST	99.83	1
ABHD12	99.11	1
DNAJC5	99.99	1
PDYN	99.98	1
TGM6	100.00	1
ARSA	100.00	1
PLA2G6	99.98	1
ANO10	99.92	1
ATG7	99.98	1
BTD	99.99	1
CACNA2D2	99.32	1
CLCN2	99.97	1
CTNNB1	99.98	1
EIF2B5	99.95	1
ITPR1	99.94	1
OPA1	99.87	1
RUBCN	99.94	1
SLC33A1	99.82	1
TFG	99.34	1
TSEN2	86.92	1
AIMP1	99.90	1
CYP2U1	97.44	1
EXOSC9	99.86	1
GRID2	99.98	1
MTTP	99.96	1
RFC1	99.44	1
SEPSECS	99.84	1
UCHL1	99.99	1
CCT5	99.97	1
FAT2	99.94	1
HEXB	99.91	1
PCDH12	100.00	1
REEP2	100.00	1
SIL1	99.99	1
SLC1A3	99.90	1
SLC25A46	99.93	1
SQSTM1	100.00	1
THG1L	99.95	1
ABHD16A	100.00	1
ARG1	99.98	1
ELOVL4	99.92	1
ELOVL5	99.95	1
FARS2	99.98	1
GRM1	99.87	1
HACE1	99.91	1
PEX7	99.87	1
RARS2	97.34	1
SNX14	99.73	1
SYNE1	99.96	1
TDP2	99.85	1
AP4M1	100.00	1
AP5Z1	99.94	1
COG5	99.92	1
IFRD1	99.96	1
PMPCB	99.98	1
RNF216	99.99	1
SAMD9L	99.98	1
VPS41	99.95	1
CA8	99.97	1
CYP7B1	99.87	1
DDHD2	99.74	1
ERLIN2	99.94	1
GPAA1	99.88	1
RNF170	99.94	1
TTPA	99.97	1
WASHC5	99.90	1
APTX	99.92	1
AUH	99.95	1
EXOSC3	99.98	1
GBA2	99.97	1
INPP5E	99.75	1
PMPCA	99.99	1
SETX	99.96	1
SPTAN1	99.97	1
UBAP1	99.96	1
VLDLR	99.93	1
ABCB7	98.62	1
ABCD1	99.78	1
AIFM1	99.43	1
AP1S2	97.43	1
ATP2B3	99.82	1
CASK	99.40	1
L1CAM	99.90	1
PLP1	99.93	1

Hereditary spastic paraplegia (188 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCD1	97.56	1
ABHD12	88.30	1
ADAR	100.00	1
AFG3L2	94.80	1
AIMP1	99.97	1
ALDH18A1	100.00	1
ALDH3A2	99.94	1
ALS2	100.00	1
AMPD2	99.90	1
ANG	100.00	1
AP4B1	100.00	1
AP4E1	99.99	1
AP4M1	100.00	1
AP4S1	100.00	1
AP5Z1	99.25	1
ARG1	100.00	1
ARL6IP1	100.00	1
ARSI	99.82	1
ASPA	100.00	1
ATAD3A	97.50	1
ATL1	99.89	1
ATP13A2	98.30	1
AUH	99.24	1
B4GALNT1	99.99	1
BICD2	100.00	1
BSCL2	100.00	1
BTD	100.00	1
MTRFR	100.00	1
C19ORF12	100.00	1
CAPN1	99.97	1
CCT5	99.92	1
CDK16	99.96	1
CLN8	100.00	1
COASY	100.00	1
CPT1C	100.00	1
CSF1R	99.99	1
CTNNB1	100.00	1
CYP27A1	99.38	1
CYP2U1	93.20	1
CYP7B1	100.00	1
DARS1	100.00	1
DARS2	100.00	1
DDHD1	99.58	1
DDHD2	100.00	1
DSTYK	100.00	1
ELOVL4	100.00	1
ENTPD1	100.00	1
ERCC2	98.91	1
ERLIN1	100.00	1
ERLIN2	100.00	1
EXOSC3	100.00	1
FA2H	95.71	1
HYCC1	100.00	1
RETREG1	100.00	1
FARS2	100.00	1
FBXO7	99.78	1
FIG4	100.00	1
FLRT1	100.00	1
FRMD7	99.98	1
FUS	100.00	1
FXN	100.00	1
GAD1	100.00	1
GALC	98.98	1
GAN	98.52	1
GARS1	97.89	1
GART	99.99	1
GBA1	100.00	1
GBA2	100.00	1
GBE1	100.00	1
GCH1	99.71	1
GFAP	100.00	1
GJA1	100.00	1
GJC2	96.72	1
GLB1	100.00	1
GLRX5	100.00	1
GLTP	100.00	1
GPR143	89.09	1
GSN	97.80	1
HACE1	98.41	1
HEPACAM	99.85	1
HEXA	100.00	1
HSD17B4	100.00	1
HSPD1	100.00	1
IBA57	92.01	1
IFIH1	100.00	1
IRF2BPL	97.56	1
KCNJ6	100.00	1
KCNMA1	99.93	1
KDM5C	99.97	1
WASHC5	100.00	1
NEXMIF	100.00	1
KIDINS220	100.00	1
KIF1A	98.74	1
KIF1C	100.00	1
KIF5A	100.00	1
KLC2	100.00	1
KLC4	99.99	1
L1CAM	99.98	1
L2HGDH	99.75	1
LAMB1	100.00	1
LYST	100.00	1
MARS1	100.00	1
MARS2	100.00	1
MFN2	100.00	1
MLC1	98.57	1
MTPAP	99.98	1
NANS	100.00	1
NEFL	100.00	1
NIPA1	92.99	1
NKX6-2	100.00	1
NT5C2	100.00	1
OCLN	100.00	1
MED12	99.98	1
OPA3	100.00	1
OPTN	100.00	1
PANK2	100.00	1
PDYN	100.00	1
PGAP1	100.00	1
PLA2G6	100.00	1
PLP1	100.00	1
PNPLA6	99.95	1
POLR3A	100.00	1
POLR3B	100.00	1
PPP2R2B	100.00	1
PRUNE1	100.00	1
PSEN1	100.00	1
PUM1	100.00	1
RAB18	99.99	1
RAB3GAP1	100.00	1
RAB3GAP2	100.00	1
RARS1	99.99	1
REEP1	100.00	1
REEP2	97.04	1
RNASEH2A	100.00	1
RNASEH2B	94.58	1
RNASEH2C	100.00	1
RNASET2	100.00	1
RTN2	99.44	1
SACS	99.95	1
SAMD9L	100.00	1
SAMHD1	100.00	1
SERAC1	100.00	1
SETX	100.00	1
SIL1	99.95	1
SLC16A2	99.97	1
SLC25A15	100.00	1
SLC25A46	100.00	1
SLC2A1	100.00	1
SLC33A1	100.00	1
SLC39A14	99.94	1
SMPD1	100.00	1
SOD1	100.00	1
SOX10	100.00	1
SPAST	99.83	1
SPG11	100.00	1
SPART	100.00	1
SPG21	100.00	1
SPG7	95.78	1
SPR	99.98	1
SUN1	100.00	1
SYNE1	100.00	1
TANGO2	99.94	1
TARDBP	99.43	1
TBC1D20	95.06	1
TECPR2	99.92	1
TFG	99.98	1
TGM6	100.00	1
TH	98.79	1
TRPV4	100.00	1
TTBK2	100.00	1
TUBB4A	100.00	1
TUBG1	100.00	1
UBQLN2	99.30	1
UCHL1	99.66	1
USP8	100.00	1
VAMP1	100.00	1
VAPB	99.77	1
VCP	97.10	1
VPS13B	100.00	1
VPS37A	99.28	1
WDR45	100.00	1
WDR45B	99.94	1
WDR48	100.00	1
ZC4H2	100.00	1
ZFR	100.00	1
ZFYVE26	100.00	1
ZFYVE27	100.00	1

Pediatric oncopredisposition - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
A2ML1	99.97	1
ABCB11	99.86	1
ACD	100.00	1
AIP	99.99	1
ALK	99.93	1
APC	99.97	1
ASXL1	100.00	1
ATM	99.83	1
RNF2	99.99	1
BLM	99.80	1
BMPR1A	99.58	1
BRAF	99.78	1
BRCA1	98.33	1
BRCA2	99.99	1
BRIP1	99.39	1
BUB1B	100.00	1
CBL	99.95	1
CD27	99.95	1
CD70	99.99	1
CDC73	99.60	1
CDH1	99.98	1
CDK4	100.00	1
CDKN1B	100.00	1
CDKN1C	100.00	1
CDKN2A	100.00	1
CEBPA	100.00	1
CEP57	99.92	1
CREBBP	99.97	1
CTC1	100.00	1
CTLA4	99.99	1
CTR9	99.98	1
DDB2	100.00	1
DICER1	99.96	1
DIS3L2	99.90	1
DKC1	99.59	1
DNAJC21	99.67	1
EFL1	99.83	1
EGLN1	99.86	1
EGLN2	99.97	1
ELP1	99.96	1
EPAS1	99.99	1
EPCAM	99.89	1
ERCC2	99.98	1
ERCC3	99.90	1
ERCC4	99.92	1
ERCC5	99.99	1
ERCC6L2	99.94	1
ETV6	99.99	1
EZH2	99.89	1
FANCA	100.00	1
FANCB	99.24	1
FANCC	99.98	1
FANCD2	99.86	1
FANCE	99.99	1
FANCF	100.00	1
FANCG	100.00	1
FANCI	99.96	1
FANCL	99.67	1
FAS	99.99	1
FBXW7	99.90	1
FH	99.95	1
GATA1	99.97	1
GATA2	99.99	1
GPC3	99.60	1
GPC4	99.89	1
GPR161	99.92	1
HAVCR2	99.93	1
HRAS	100.00	1
IKZF1	99.92	1
ITK	99.91	1
KRAS	99.13	1
L2HGDH	99.92	1
LIG4	100.00	1
LZTR1	99.46	1
MAP2K1	99.98	1
MAP2K2	99.99	1
MAX	99.96	1
MDH2	99.54	1
MDM4	99.43	1
MEN1	99.98	1
MLH1	99.64	1
MRAS	99.97	1
MSH2	99.23	1
MSH6	99.97	1
MYSM1	94.16	1
NBN	99.93	1
NF1	99.88	1
NF2	100.00	1
NHP2	99.96	1
NOP10	99.99	1
NRAS	99.66	1
NSD1	99.98	1
PALB2	99.71	1
PARN	99.75	1
PAX5	99.82	1
PHOX2B	99.98	1
PIK3CA	99.74	1
PMS2	70.47	1
POLD1	99.96	1
POLE	99.99	1
POLH	99.85	1
POT1	99.91	1
PPP1CB	99.89	1
PRF1	100.00	1
PRKAR1A	100.00	1
PTCH1	99.99	1
PTEN	99.89	1
PTPN11	99.98	1
RAF1	99.97	1
RB1	99.84	1
RECQL4	100.00	1
REST	99.99	1
RET	99.97	1
RIT1	99.78	1
RMRP	100.00	1
RPL11	99.81	1
RPL15	31.77	1
RPL18	100.00	1
RPL26	30.55	1
RPL27	99.83	1
RPL35	99.99	1
RPL35A	97.55	1
RPL5	28.81	1
RPS10	0.00	1
RPS15A	22.14	1
RPS17	100.00	1
RPS19	100.00	1
RPS24	91.48	1
RPS26	8.99	1
RPS27	27.45	1
RPS28	100.00	1
RPS29	99.96	1
RPS7	88.50	1
RRAS	99.98	1
RRAS2	99.94	1
RTEL1	100.00	1
RUNX1	100.00	1
SAMD9	99.93	1
SAMD9L	99.95	1
SBDS	99.93	1
SDHA	99.98	1
SDHAF2	99.96	1
SDHB	97.32	1
SDHC	99.67	1
SDHD	82.93	1
SETBP1	100.00	1
SH2D1A	98.98	1
SHOC2	99.96	1
SLX4	100.00	1
SMARCA4	99.99	1
SMARCB1	99.99	1
SMARCE1	99.87	1
SOS1	99.68	1
SOS2	99.39	1
SRP72	99.91	1
STK11	100.00	1
SUFU	100.00	1
TERC	98.59	1
TERT	100.00	1
TINF2	100.00	1
TMEM127	99.99	1
TP53	99.98	1
TRIM28	100.00	1
TRIM37	98.19	1
TRIP13	100.00	1
TSC1	99.99	1
TSC2	99.98	1
TSR2	99.96	1
UBE2T	99.89	1
USB1	89.62	1
VHL	100.00	1
WAS	99.90	1
WRAP53	100.00	1
WT1	99.99	1
XPA	99.68	1
XPC	99.98	1
SRP54	99.90	1

Periodic Fever (88 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ACP5	0.00	0	,
ADAM17	0.00	0	,
ADAR	0.00	0	,
AP1S3	0.00	0	,
CARD14	0.00	0	,
CASP1	0.00	0	,
CASP10	0.00	0	,
CDC42	0.00	0	,
CEBPE	0.00	0	,
ADA2	0.00	0	,
COPA	0.00	0	,
RIGI	0.00	0	,
DNASE2	0.00	0	,
DOCK8	0.00	0	,
ELF4	0.00	0	,
ADGRE2	0.00	0	,
F12	0.00	0	,
OTULIN	0.00	0	,
FAS	0.00	0	,
FASLG	0.00	0	,
FBLIM1	0.00	0	,
HMOX1	0.00	0	,
IFIH1	0.00	0	,
IKBKG	0.00	0	,
IL10	0.00	0	,
IL10RA	0.00	0	,
IL10RB	0.00	0	,
IL1RN	0.00	0	,
IL36RN	0.00	0	,
LACC1	0.00	0	,
LPIN2	0.00	0	,
LSM11	0.00	0	,
LYN	0.00	0	,
MDFIC	0.00	0	,
MEFV	0.00	0	,
MVK	0.00	0	,
NCKAP1L	0.00	0	,
NCSTN	0.00	0	,
NLRC4	0.00	0	,
NLRP1	0.00	0	,
NLRP12	0.00	0	,
NLRP3	0.00	0	,
NLRP7	0.00	0	,
NOD2	0.00	0	,
PLCG2	0.00	0	,
POLA1	0.00	0	,
POMP	0.00	0	,
PSENEN	0.00	0	,
PSMA3	0.00	0	,
PSMB10	0.00	0	,
PSMB4	0.00	0	,
PSMB8	0.00	0	,
PSMB9	0.00	0	,
PSMG2	0.00	0	,
PSTPIP1	0.00	0	,
PTEN	0.00	0	,
PYCARD	0.00	0	,
RBCK1	0.00	0	,
RELA	0.00	0	,
RIPK1	0.00	0	,
RNASEH2A	0.00	0	,
RNASEH2B	0.00	0	,
RNASEH2C	0.00	0	,
RNF213	0.00	0	,
RNF31	0.00	0	,
RNU7-1	0.00	0	,
SAMD9L	0.00	0	,
SAMHD1	0.00	0	,
SERPING1	0.00	0	,
SH3BP2	0.00	0	,
SHARPIN	0.00	0	,
SLC29A3	0.00	0	,
STAT2	0.00	0	,
SYK	0.00	0	,
STING1	0.00	0	,
TNFAIP3	0.00	0	,
TNFRSF11A	0.00	0	,
TNFRSF1A	0.00	0	,
TNFRSF9	0.00	0	,
TRAP1	0.00	0	,
TREX1	0.00	0	,
TRNT1	0.00	0	,
UBA1	0.00	0	,
UNC13B	0.00	0	,
USP18	0.00	0	,
WAS	0.00	0	,
WDR1	0.00	0	,
XIAP	0.00	0	,

Primary immune deficiencies (444 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ACD	95.00	0	NM_001082486.1/ interpretable range CS1>95%
ACP5	95.00	0	NM_001111035.2/ interpretable range CS1>95%
ACTB	95.00	0	NM_001101.4/ interpretable range CS1>95%
ADA	95.00	0	NM_000022.3/ interpretable range CS1>95%
ADA2	95.00	1	NM_001282225.1/ interpretable range CS1>95%
ADAM17	95.00	0	NM_003183.6/ interpretable range CS1>95%
ADAR	95.00	0	NM_001111.5/ interpretable range CS1>95%
AICDA	95.00	0	NM_020661.3/ interpretable range CS1>95%
AIRE	95.00	0	NM_000383.3/ interpretable range CS1>95%
AK2	95.00	0	NM_001625.3/ interpretable range CS1>95%
ALPI	95.00	0	NM_001631.4/ interpretable range CS1>95%
AP1S3	95.00	0	NM_001039569.1/ interpretable range CS1>95%
AP3B1	95.00	0	NM_003664.4/ interpretable range CS1>95%
AP3D1	95.00	0	NM_001261826.3/ interpretable range CS1>95%
APOL1	95.00	0	NM_003661.3/ interpretable range CS1>95%
ARPC1B	95.00	0	NM_005720.4/ interpretable range CS1>95%
ATAD3A	95.00	0	NM_001170535.2/ interpretable range CS1>95%
ATG4A	95.00	0	NM_052936.4/ interpretable range CS1>95%
ATM	95.00	0	NM_000051.3/ interpretable range CS1>95%
ATP6AP1	95.00	0	NM_001183.5/ interpretable range CS1>95%
ATP6V0A2	95.00	0	NM_012463.3/ interpretable range CS1>95%
B2M	95.00	0	NM_004048.2/ interpretable range CS1>95%
BACH2	95.00	0	NM_021813.3/ interpretable range CS1>95%
BCL10	95.00	0	NM_003921.5/ interpretable range CS1>95%
BCL11B	95.00	0	NM_138576.3/ interpretable range CS1>95%
BLM	95.00	0	NM_000057.3/ interpretable range CS1>95%
BLNK	95.00	0	NM_013314.3/ interpretable range CS1>95%
BPIFA1	95.00	0	NM_016583.3/ interpretable range CS1>95%
BTK	95.00	0	NM_000061.2/ interpretable range CS1>95%
C1QA	95.00	0	NM_015991.3/ interpretable range CS1>95%
C1QB	95.00	0	NM_000491.4/ interpretable range CS1>95%
C1QC	95.00	0	NM_172369.4/ interpretable range CS1>95%
C1R	95.00	0	NM_001733.6/ interpretable range CS1>95%
C1S	95.00	0	NM_201442.3/ interpretable range CS1>95%
C2	95.00	0	NM_000063.5/ interpretable range CS1>95%
C2orf69	95.00	0	NM_153689.5/ interpretable range CS1>95%
C3	95.00	0	NM_000064.3/ interpretable range CS1>95%
C5	95.00	0	NM_001735.2/ interpretable range CS1>95%
C6	95.00	0	NM_000065.3/ interpretable range CS1>95%
C7	95.00	0	NM_000587.3/ interpretable range CS1>95%
C8A	95.00	0	NM_000562.2/ interpretable range CS1>95%
C8B	95.00	0	NM_000066.3/ interpretable range CS1>95%
C9	95.00	0	NM_001737.4/ interpretable range CS1>95%
CARD11	95.00	0	NM_032415.5/ interpretable range CS1>95%
CARD14	95.00	0	NM_024110.4/ interpretable range CS1>95%
CARD9	95.00	0	NM_052813.4/ interpretable range CS1>95%
CARMIL2	95.00	0	NM_001013838.2/ interpretable range CS1>95%
CASP10	95.00	0	NM_032977.3/ interpretable range CS1>95%
CASP8	95.00	0	NM_001228.4/ interpretable range CS1>95%
CCBE1	95.00	0	NM_133459.4/ interpretable range CS1>95%
CD19	95.00	0	NM_001770.5/ interpretable range CS1>95%
CD247	95.00	0	NM_198053.2/ interpretable range CS1>95%
CD27	95.00	0	NM_001242.4/ interpretable range CS1>95%
CD28	95.00	0	NM_006139.3/ interpretable range CS1>95%
CD3D	95.00	0	NM_000732.4/ interpretable range CS1>95%
CD3E	95.00	0	NM_000733.3/ interpretable range CS1>95%
CD3G	95.00	0	NM_000073.2/ interpretable range CS1>95%
CD4	95.00	0	NM_000616.4/ interpretable range CS1>95%
CD40	95.00	0	NM_001250.5/ interpretable range CS1>95%
CD40LG	95.00	0	NM_000074.2/ interpretable range CS1>95%
CD46	95.00	0	NM_002389.4/ interpretable range CS1>95%
CD48	95.00	0	NM_001778.3/ interpretable range CS1>95%
CD55	95.00	0	NM_000574.4/ interpretable range CS1>95%
CD59	95.00	0	NM_203330.2/ interpretable range CS1>95%
CD70	95.00	0	NM_001252.4/ interpretable range CS1>95%
CD79A	95.00	0	NM_001783.3/ interpretable range CS1>95%
CD79B	95.00	0	NM_000626.3/ interpretable range CS1>95%
CD81	95.00	0	NM_004356.3/ interpretable range CS1>95%
CD8A	95.00	0	NM_001768.6/ interpretable range CS1>95%
CDC42	95.00	0	NM_001791.3/ interpretable range CS1>95%
CDCA7	95.00	0	NM_031942.4/ interpretable range CS1>95%
CDH17	95.00	0	NM_004063.3/ interpretable range CS1>95%
CEBPE	95.00	0	NM_001805.3/ interpretable range CS1>95%
CFB	95.00	0	NM_001710.5/ interpretable range CS1>95%
CFD	95.00	0	NM_001928.3/ interpretable range CS1>95%
CFH	95.00	0	NM_000186.3/ interpretable range CS1>95%
CFHR1	95.00	0	NM_002113.2/ interpretable range CS1>95%
CFHR2	95.00	0	NM_005666.3/ interpretable range CS1>95%
CFHR3	95.00	0	NM_021023.5/ interpretable range CS1>95%
CFHR4	95.00	0	NM_001201550.2/ interpretable range CS1>95%
CFHR5	95.00	0	NM_030787.3/ interpretable range CS1>95%
CFI	95.00	0	NM_000204.4/ interpretable range CS1>95%
CFP	95.00	0	NM_002621.2/ interpretable range CS1>95%
CFTR	95.00	0	NM_000492.3/ interpretable range CS1>95%
CHD7	95.00	0	NM_017780.3/ interpretable range CS1>95%
CHUK	95.00	0	NM_001278.4/ interpretable range CS1>95%
CIB1	95.00	0	NM_006384.3/ interpretable range CS1>95%
CIITA	95.00	0	NM_000246.3/ interpretable range CS1>95%
CLCN7	95.00	0	NM_001287.5/ interpretable range CS1>95%
CLPB	95.00	0	NM_030813.5/ interpretable range CS1>95%
COPA	95.00	0	NM_004371.3/ interpretable range CS1>95%
COPG1	95.00	0	NM_016128.3/ interpretable range CS1>95%
CORO1A	95.00	0	NM_007074.3/ interpretable range CS1>95%
CR2	95.00	0	NM_001006658.2/ interpretable range CS1>95%
CRACR2A	95.00	0	NM_001144958.1/ interpretable range CS1>95%
CSF2RB	95.00	0	NM_000395.2/ interpretable range CS1>95%
CSF3R	95.00	0	NM_000760.3/ interpretable range CS1>95%
CTC1	95.00	0	NM_025099.5/ interpretable range CS1>95%
CTLA4	95.00	0	NM_005214.4/ interpretable range CS1>95%
CTNNBL1	95.00	0	NM_030877.4/ interpretable range CS1>95%
CTPS1	95.00	0	NM_001905.3/ interpretable range CS1>95%
CTSC	95.00	0	NM_001814.5/ interpretable range CS1>95%
CXCR2	95.00	0	NM_001557.3/ interpretable range CS1>95%
CXCR4	95.00	0	NM_003467.2/ interpretable range CS1>95%
CYBA	95.00	0	NM_000101.3/ interpretable range CS1>95%
CYBB	95.00	1	NM_000397.3/ interpretable range CS1>95%
CYBC1	95.00	0	NM_001033046.3/ interpretable range CS1>95%
DBR1	95.00	0	NM_016216.3/ interpretable range CS1>95%
DCLRE1B	95.00	0	NM_022836.3/ interpretable range CS1>95%
DCLRE1C	95.00	0	NM_001033855.2/ interpretable range CS1>95%
DEF6	95.00	0	NM_022047.3/ interpretable range CS1>95%
DGAT1	95.00	0	NM_012079.5/ interpretable range CS1>95%
DIAPH1	95.00	0	NM_005219.4/ interpretable range CS1>95%
DKC1	95.00	0	NM_001363.4/ interpretable range CS1>95%
DNAJC21	95.00	0	NM_001012339.3/ interpretable range CS1>95%
DNASE1	95.00	0	NM_005223.3/ interpretable range CS1>95%
DNASE1L3	95.00	0	NM_004944.3/ interpretable range CS1>95%
DNASE2	95.00	0	NM_001375.2/ interpretable range CS1>95%
DNMT3B	95.00	0	NM_006892.3/ interpretable range CS1>95%
DOCK2	95.00	0	NM_004946.2/ interpretable range CS1>95%
DOCK8	95.00	0	NM_203447.3/ interpretable range CS1>95%
DSG1	95.00	0	NM_001942.3/ interpretable range CS1>95%
DTNBP1	95.00	0	NM_032122.4/ interpretable range CS1>95%
EFL1	95.00	0	NM_024580.5/ interpretable range CS1>95%
ELANE	95.00	0	NM_001972.3/ interpretable range CS1>95%
ELF4	95.00	0	NM_001421.3/ interpretable range CS1>95%
EPG5	95.00	0	NM_020964.2/ interpretable range CS1>95%
ERBIN	95.00	0	NM_001253697.1/ interpretable range CS1>95%
EXTL3	95.00	0	NM_001440.3/ interpretable range CS1>95%
FADD	95.00	0	NM_003824.3/ interpretable range CS1>95%
FAS	95.00	0	NM_000043.5/ interpretable range CS1>95%
FASLG	95.00	0	NM_000639.2/ interpretable range CS1>95%
FAT4	95.00	0	NM_024582.4/ interpretable range CS1>95%
FCGR3A	95.00	0	NM_000569.7/ interpretable range CS1>95%
FCHO1	95.00	0	NM_015122.2/ interpretable range CS1>95%
FCN3	95.00	0	NM_003665.3/ interpretable range CS1>95%
FERMT1	95.00	0	NM_017671.4/ interpretable range CS1>95%
FERMT3	95.00	0	NM_031471.5/ interpretable range CS1>95%
FNIP1	95.00	0	NM_133372.2/ interpretable range CS1>95%
FOXN1	95.00	0	NM_003593.2/ interpretable range CS1>95%
FOXP3	95.00	0	NM_014009.3/ interpretable range CS1>95%
G6PC3	95.00	0	NM_138387.3/ interpretable range CS1>95%
G6PD	95.00	0	NM_001042351.2/ interpretable range CS1>95%
GATA2	95.00	1	NM_032638.4/ interpretable range CS1>95%
GFI1	95.00	0	NM_005263.4/ interpretable range CS1>95%
GIMAP5	95.00	0	NM_018384.4/ interpretable range CS1>95%
GIMAP6	95.00	0	NM_001244072.1/ interpretable range CS1>95%
GINS1	95.00	0	NM_021067.4/ interpretable range CS1>95%
GUCY2C	95.00	0	NM_004963.3/ interpretable range CS1>95%
HAVCR2	95.00	0	NM_032782.4/ interpretable range CS1>95%
HAX1	95.00	0	NM_006118.3/ interpretable range CS1>95%
HCK	95.00	0	NM_002110.3/ interpretable range CS1>95%
HELLS	95.00	0	NM_018063.4/ interpretable range CS1>95%
HTRA2	95.00	0	NM_013247.4/ interpretable range CS1>95%
HYOU1	95.00	0	NM_006389.4/ interpretable range CS1>95%
ICOS	95.00	0	NM_012092.3/ interpretable range CS1>95%
IFIH1	95.00	0	NM_022168.3/ interpretable range CS1>95%
IFNAR1	95.00	0	NM_000629.2/ interpretable range CS1>95%
IFNAR2	95.00	0	NM_207585.2/ interpretable range CS1>95%
IFNG	95.00	0	NM_000619.2/ interpretable range CS1>95%
IFNGR1	95.00	0	NM_000416.2/ interpretable range CS1>95%
IFNGR2	95.00	0	NM_005534.3/ interpretable range CS1>95%
IGLL1	95.00	0	NM_020070.3/ interpretable range CS1>95%
IKBKB	95.00	0	NM_001556.2/ interpretable range CS1>95%
IKBKG	95.00	0	NM_001099857.2/ interpretable range CS1>95%
IKZF1	95.00	0	NM_006060.6/ interpretable range CS1>95%
IKZF2	95.00	0	NM_001079526.1/ interpretable range CS1>95%
IKZF3	95.00	0	NM_012481.4/ interpretable range CS1>95%
IL10	95.00	0	NM_000572.2/ interpretable range CS1>95%
IL10RA	95.00	0	NM_001558.3/ interpretable range CS1>95%
IL10RB	95.00	0	NM_000628.4/ interpretable range CS1>95%
IL12B	95.00	0	NM_002187.2/ interpretable range CS1>95%
IL12RB1	95.00	0	NM_005535.2/ interpretable range CS1>95%
IL12RB2	95.00	0	NM_001559.2/ interpretable range CS1>95%
IL17F	95.00	0	NM_052872.3/ interpretable range CS1>95%
IL17RA	95.00	0	NM_014339.6/ interpretable range CS1>95%
IL17RC	95.00	0	NM_153461.3/ interpretable range CS1>95%
IL18BP	95.00	0	NM_173042.2/ interpretable range CS1>95%
IL1RN	95.00	0	NM_173841.2/ interpretable range CS1>95%
IL21	95.00	0	NM_021803.3/ interpretable range CS1>95%
IL21R	95.00	0	NM_021798.3/ interpretable range CS1>95%
IL23R	95.00	0	NM_144701.2/ interpretable range CS1>95%
IL2RA	95.00	0	NM_000417.2/ interpretable range CS1>95%
IL2RB	95.00	0	NM_000878.4/ interpretable range CS1>95%
IL2RG	95.00	0	NM_000206.2/ interpretable range CS1>95%
IL36RN	95.00	0	NM_012275.2/ interpretable range CS1>95%
IL37	95.00	0	NM_014439.3/ interpretable range CS1>95%
IL6R	95.00	0	NM_000565.3/ interpretable range CS1>95%
IL6ST	95.00	0	NM_002184.3/ interpretable range CS1>95%
IL7	95.00	0	NM_000880.3/ interpretable range CS1>95%
IL7R	95.00	0	NM_002185.4/ interpretable range CS1>95%
INO80	95.00	0	NM_017553.2/ interpretable range CS1>95%
IRAK1	95.00	0	NM_001569.3/ interpretable range CS1>95%
IRAK4	95.00	0	NM_016123.3/ interpretable range CS1>95%
IRF2BP2	95.00	0	NM_182972.2/ interpretable range CS1>95%
IRF3	95.00	0	NM_001571.5/ interpretable range CS1>95%
IRF4	95.00	0	NM_002460.3/ interpretable range CS1>95%
IRF7	95.00	0	NM_004031.2/ interpretable range CS1>95%
IRF8	95.00	0	NM_002163.2/ interpretable range CS1>95%
IRF9	95.00	0	NM_006084.4/ interpretable range CS1>95%
ISG15	95.00	0	NM_005101.3/ interpretable range CS1>95%
ITCH	95.00	0	NM_031483.6/ interpretable range CS1>95%
ITGB2	95.00	0	NM_000211.4/ interpretable range CS1>95%
ITK	95.00	0	NM_005546.3/ interpretable range CS1>95%
ITPKB	95.00	0	NM_002221.3/ interpretable range CS1>95%
ITPKC	95.00	0	NM_025194.2/ interpretable range CS1>95%
ITPR3	95.00	0	NM_002224.3/ interpretable range CS1>95%
JAGN1	95.00	0	NM_032492.3/ interpretable range CS1>95%
JAK1	95.00	0	NM_002227.3/ interpretable range CS1>95%
JAK3	95.00	0	NM_000215.3/ interpretable range CS1>95%
KARS1	95.00	0	NM_001130089.1/ interpretable range CS1>95%
KMT2A	95.00	0	NM_001197104.1/ interpretable range CS1>95%
KMT2D	95.00	0	NM_003482.3/ interpretable range CS1>95%
KPNA2	95.00	0	NM_001320611.1/ interpretable range CS1>95%
KRAS	95.00	0	NM_004985.4/ interpretable range CS1>95%
LACC1	95.00	0	NM_001128303.2/ interpretable range CS1>95%
LAMTOR2	95.00	0	NM_014017.3/ interpretable range CS1>95%
LAT	95.00	0	NM_001014987.1/ interpretable range CS1>95%
LCK	95.00	0	NM_001042771.2/ interpretable range CS1>95%
LCP2	95.00	0	NM_005565.4/ interpretable range CS1>95%
LIG1	95.00	0	NM_000234.2/ interpretable range CS1>95%
LIG4	95.00	0	NM_002312.3/ interpretable range CS1>95%
LPIN2	95.00	0	NM_014646.2/ interpretable range CS1>95%
LRBA	95.00	0	NM_006726.4/ interpretable range CS1>95%
LRRC32	95.00	0	NM_005512.2/ interpretable range CS1>95%
LRRC8A	95.00	0	NM_019594.3/ interpretable range CS1>95%
LSM11	95.00	0	NM_173491.3/ interpretable range CS1>95%
LYST	95.00	0	NM_000081.3/ interpretable range CS1>95%
MAGT1	95.00	0	NM_032121.5/ interpretable range CS1>95%
MALT1	95.00	0	NM_006785.3/ interpretable range CS1>95%
MAN2B2	95.00	0	NM_015274.2/ interpretable range CS1>95%
MAP1LC3B2	95.00	0	NM_001085481.2/ interpretable range CS1>95%
MAP3K14	95.00	0	NM_003954.4/ interpretable range CS1>95%
MAPK8	95.00	0	NM_139049.3/ interpretable range CS1>95%
MASP2	95.00	0	NM_006610.3/ interpretable range CS1>95%
MBL2	95.00	0	NM_000242.2/ interpretable range CS1>95%
MCM10	95.00	0	NM_182751.2/ interpretable range CS1>95%
MCM4	95.00	0	NM_005914.3/ interpretable range CS1>95%
MEFV	95.00	0	NM_000243.2/ interpretable range CS1>95%
MOGS	95.00	0	NM_020831.4/ interpretable range CS1>95%
MPO	95.00	0	NM_006302.2/ interpretable range CS1>95%
MRTFA	95.00	0	NM_000250.1/ interpretable range CS1>95%
MS4A1	95.00	0	NM_152866.2/ interpretable range CS1>95%
MSN	95.00	0	NM_002444.2/ interpretable range CS1>95%
MTHFD1	95.00	0	NM_005956.3/ interpretable range CS1>95%
MVK	95.00	0	NM_000431.3/ interpretable range CS1>95%
MYD88	95.00	0	NM_002468.4/ interpretable range CS1>95%
MYO5B	95.00	0	NM_001080467.2/ interpretable range CS1>95%
MYSM1	95.00	0	NM_001085487.2/ interpretable range CS1>95%
NBAS	95.00	0	NM_015909.3/ interpretable range CS1>95%
NCF1	95.00	0	NM_000265.5/ interpretable range CS1>95%
NCF2	95.00	0	NM_000433.3/ interpretable range CS1>95%
NCF4	95.00	0	NM_013416.3/ interpretable range CS1>95%
NCKAP1	95.00	0	NM_205842.2/ interpretable range CS1>95%
NCKAP1L	95.00	0	NM_005337.4/ interpretable range CS1>95%
NCSTN	95.00	0	NM_015331.2/ interpretable range CS1>95%
NFAT5	95.00	0	NM_138714.3/ interpretable range CS1>95%
NFE2L2	95.00	0	NM_006164.4/ interpretable range CS1>95%
NFKB1	95.00	0	NM_003998.3/ interpretable range CS1>95%
NFKB2	95.00	0	NM_001077494.3/ interpretable range CS1>95%
NFKBIA	95.00	0	NM_020529.2/ interpretable range CS1>95%
NHEJ1	95.00	0	NM_024782.2/ interpretable range CS1>95%
NHP2	95.00	0	NM_017838.3/ interpretable range CS1>95%
NLRC4	95.00	0	NM_021209.4/ interpretable range CS1>95%
NLRP1	95.00	0	NM_033004.3/ interpretable range CS1>95%
NLRP12	95.00	0	NM_144687.3/ interpretable range CS1>95%
NLRP3	95.00	0	NM_004895.4/ interpretable range CS1>95%
NOD2	95.00	0	NM_022162.2/ interpretable range CS1>95%
NOP10	95.00	0	NM_018648.3/ interpretable range CS1>95%
NOS2	95.00	0	NM_000625.4/ interpretable range CS1>95%
NRAS	95.00	0	NM_002524.4/ interpretable range CS1>95%
NSMCE3	95.00	0	NM_138704.3/ interpretable range CS1>95%
OAS1	95.00	0	NM_032790.3/ interpretable range CS1>95%
ORAI1	95.00	0	NM_014028.3/ interpretable range CS1>95%
OSTM1	95.00	0	NM_138348.5/ interpretable range CS1>95%
OTULIN	95.00	0	NM_002582.3/ interpretable range CS1>95%
PARN	95.00	0	NM_006192.4/ interpretable range CS1>95%
PAX1	95.00	0	NM_005018.2/ interpretable range CS1>95%
PDCD1	95.00	0	NM_000285.3/ interpretable range CS1>95%
PEPD	95.00	0	NM_001199917.1/ interpretable range CS1>95%
PGM3	95.00	0	NM_058004.3/ interpretable range CS1>95%
PI4KA	95.00	0	NM_005026.4/ interpretable range CS1>95%
PIK3CD	95.00	0	NM_002649.3/ interpretable range CS1>95%
PIK3CG	95.00	0	NM_181523.2/ interpretable range CS1>95%
PIK3R1	95.00	0	NM_002661.4/ interpretable range CS1>95%
PLCG2	95.00	0	NM_014798.2/ interpretable range CS1>95%
PLEKHM1	95.00	0	NM_000535.6/ interpretable range CS1>95%
PMS2	95.00	0	NM_016937.3/ interpretable range CS1>95%
PNP	95.00	0	NM_002691.3/ interpretable range CS1>95%
POLA1	95.00	0	NM_006230.3/ interpretable range CS1>95%
POLD1	95.00	0	NM_006231.3/ interpretable range CS1>95%
POLD2	95.00	0	NM_002692.3/ interpretable range CS1>95%
POLE	95.00	0	NM_007055.3/ interpretable range CS1>95%
POLE2	95.00	0	NM_001303456.1/ interpretable range CS1>95%
POLR3A	95.00	0	NM_001282526.1/ interpretable range CS1>95%
POLR3C	95.00	0	NM_015932.5/ interpretable range CS1>95%
POLR3E	95.00	0	NM_006235.2/ interpretable range CS1>95%
POLR3F	95.00	0	NM_001083116.2/ interpretable range CS1>95%
POMP	95.00	0	NM_015932.6/ interpretable range CS1>95%
POU2AF1	95.00	0	NM_006254.3/ interpretable range CS1>95%
PRF1	95.00	0	NM_006904.6/ interpretable range CS1>95%
PRKCD	95.00	0	NM_172341.3/ interpretable range CS1>95%
PRKDC	95.00	0	NM_002788.3/ interpretable range CS1>95%
PSENEN	95.00	0	NM_002801.3/ interpretable range CS1>95%
PSMA3	95.00	0	NM_002796.2/ interpretable range CS1>95%
PSMB10	95.00	0	NM_148919.3/ interpretable range CS1>95%
PSMB4	95.00	0	NM_002800.4/ interpretable range CS1>95%
PSMB8	95.00	0	NM_147163.1/ interpretable range CS1>95%
PSMB9	95.00	0	NM_003978.4/ interpretable range CS1>95%
PSMG2	95.00	0	NM_000314.6/ interpretable range CS1>95%
PSTPIP1	95.00	0	NM_002828.3/ interpretable range CS1>95%
PTEN	95.00	0	NM_002838.4/ interpretable range CS1>95%
PTPN2	95.00	0	NM_004580.4/ interpretable range CS1>95%
PTPRC	95.00	0	NM_002872.4/ interpretable range CS1>95%
RAB27A	95.00	0	NM_000448.2/ interpretable range CS1>95%
RAC2	95.00	0	NM_000536.3/ interpretable range CS1>95%
RAG1	95.00	0	NM_006267.4/ interpretable range CS1>95%
RAG2	95.00	0	NM_005739.3/ interpretable range CS1>95%
RANBP2	95.00	0	NM_031229.3/ interpretable range CS1>95%
RASGRP1	95.00	0	NM_172071.3/ interpretable range CS1>95%
RBCK1	95.00	0	NM_004260.3/ interpretable range CS1>95%
RC3H1	95.00	0	NM_002908.3/ interpretable range CS1>95%
RECQL4	95.00	0	NM_021975.3/ interpretable range CS1>95%
REL	95.00	0	NM_006509.3/ interpretable range CS1>95%
RELA	95.00	0	NM_000449.3/ interpretable range CS1>95%
RELB	95.00	0	NM_003721.3/ interpretable range CS1>95%
RFX5	95.00	0	NM_000538.3/ interpretable range CS1>95%
RFXANK	95.00	0	NM_001665.3/ interpretable range CS1>95%
RFXAP	95.00	0	NM_004310.4/ interpretable range CS1>95%
RHOG	95.00	0	NM_003804.5/ interpretable range CS1>95%
RHOH	95.00	0	NM_006397.2/ interpretable range CS1>95%
RIGI	95.00	0	NM_014314.4/ interpretable range CS1>95%
RIPK1	95.00	0	NM_024570.3/ interpretable range CS1>95%
RNASEH2A	95.00	0	NM_032193.3/ interpretable range CS1>95%
RNASEH2B	95.00	0	NM_152617.3/ interpretable range CS1>95%
RNASEH2C	95.00	0	NM_017999.4/ interpretable range CS1>95%
RNF168	95.00	0	NM_005060.3/ interpretable range CS1>95%
RNF31	95.00	0	NM_002945.4/ interpretable range CS1>95%
RORC	95.00	0	NM_002295.5/ interpretable range CS1>95%
RPA1	95.00	0	NM_002945.5/ interpretable range CS1>95%
RPSA	95.00	0	NM_032957.4/ interpretable range CS1>95%
RTEL1	95.00	0	NM_017654.3/ interpretable range CS1>95%
SAMD9	95.00	0	NM_152703.4/ interpretable range CS1>95%
SAMD9L	95.00	0	NM_015474.3/ interpretable range CS1>95%
SAMHD1	95.00	0	NM_018990.3/ interpretable range CS1>95%
SASH3	95.00	0	NM_016038.3/ interpretable range CS1>95%
SBDS	95.00	0	NM_013336.3/ interpretable range CS1>95%
SEC61A1	95.00	0	NM_006378.3/ interpretable range CS1>95%
SEMA4D	95.00	0	NM_000062.2/ interpretable range CS1>95%
SERPING1	95.00	1	NM_002351.4/ interpretable range CS1>95%
SH2D1A	95.00	0	NM_031892.2/ interpretable range CS1>95%
SH3KBP1	95.00	0	NM_006929.4/ interpretable range CS1>95%
SKIC2	95.00	0	NM_006929.5/ interpretable range CS1>95%
SKIC3	95.00	0	NM_014639.4/ interpretable range CS1>95%
SLC11A1	95.00	0	NM_018344.5/ interpretable range CS1>95%
SLC29A3	95.00	0	NM_018389.4/ interpretable range CS1>95%
SLC35C1	95.00	0	NM_001164277.1/ interpretable range CS1>95%
SLC37A4	95.00	0	NM_006979.2/ interpretable range CS1>95%
SLC39A7	95.00	0	NM_080669.5/ interpretable range CS1>95%
SLC46A1	95.00	0	NM_001126106.2/ interpretable range CS1>95%
SLC7A7	95.00	0	NM_014140.3/ interpretable range CS1>95%
SMARCAL1	95.00	0	NM_001098426.1/ interpretable range CS1>95%
SMARCD2	95.00	0	NR_002967.1/ interpretable range CS1>95%
SNORA31	95.00	0	NM_001199835.1/ interpretable range CS1>95%
SNX10	95.00	0	NM_003745.1/ interpretable range CS1>95%
SOCS1	95.00	0	NM_004509.3/ interpretable range CS1>95%
SP110	95.00	0	NM_004509.5/ interpretable range CS1>95%
SPI1	95.00	0	NM_001080547.1/ interpretable range CS1>95%
SPINK5	95.00	0	NM_006846.3/ interpretable range CS1>95%
SPPL2A	95.00	0	NM_032802.3/ interpretable range CS1>95%
SRP54	95.00	0	NM_003136.3/ interpretable range CS1>95%
STAT1	95.00	0	NM_007315.3/ interpretable range CS1>95%
STAT2	95.00	0	NM_005419.3/ interpretable range CS1>95%
STAT3	95.00	0	NM_139276.2/ interpretable range CS1>95%
STAT4	95.00	0	NM_003151.3/ interpretable range CS1>95%
STAT5B	95.00	0	NM_012448.3/ interpretable range CS1>95%
STIM1	95.00	0	NM_003156.3/ interpretable range CS1>95%
STING1	95.00	0	NM_006282.4/ interpretable range CS1>95%
STK4	95.00	0	NM_024928.4/ interpretable range CS1>95%
STN1	95.00	0	NM_003764.3/ interpretable range CS1>95%
STX11	95.00	0	NM_006949.3/ interpretable range CS1>95%
STXBP2	95.00	0	NM_007269.3/ interpretable range CS1>95%
STXBP3	95.00	0	NM_003177.6/ interpretable range CS1>95%
SYK	95.00	0	NM_000593.5/ interpretable range CS1>95%
TAFAZZIN	95.00	0	NM_000116.5/ interpretable range CS1>95%
TAP1	95.00	0	NM_001290043.1/ interpretable range CS1>95%
TAP2	95.00	0	NM_003190.4/ interpretable range CS1>95%
TAPBP	95.00	0	NM_000116.4/ interpretable range CS1>95%
TBK1	95.00	0	NM_013254.3/ interpretable range CS1>95%
TBX1	95.00	0	NM_080647.1/ interpretable range CS1>95%
TBX21	95.00	0	NM_013351.1/ interpretable range CS1>95%
TCF3	95.00	0	NM_003200.4/ interpretable range CS1>95%
TCIRG1	95.00	0	NM_006019.3/ interpretable range CS1>95%
TCN2	95.00	0	NM_000355.3/ interpretable range CS1>95%
TERT	95.00	0	NM_198253.2/ interpretable range CS1>95%
TET2	95.00	0	NM_001127208.2/ interpretable range CS1>95%
TFRC	95.00	0	NM_003234.3/ interpretable range CS1>95%
TGFB1	95.00	0	NM_000660.6/ interpretable range CS1>95%
TGFBR1	95.00	0	NM_004612.3/ interpretable range CS1>95%
TGFBR2	95.00	0	NM_003242.5/ interpretable range CS1>95%
THBD	95.00	0	NM_000361.2/ interpretable range CS1>95%
TICAM1	95.00	0	NM_182919.3/ interpretable range CS1>95%
TINF2	95.00	0	NM_001099274.1/ interpretable range CS1>95%
TLR3	95.00	0	NM_003265.2/ interpretable range CS1>95%
TLR7	95.00	0	NM_016562.3/ interpretable range CS1>95%
TLR8	95.00	0	NM_138636.5/ interpretable range CS1>95%
TMC6	95.00	0	NM_007267.7/ interpretable range CS1>95%
TMC8	95.00	0	NM_152468.4/ interpretable range CS1>95%
TNFAIP3	95.00	0	NM_198282.3/ interpretable range CS1>95%
TNFRSF11A	95.00	0	NM_006290.3/ interpretable range CS1>95%
TNFRSF13B	95.00	0	NM_003839.3/ interpretable range CS1>95%
TNFRSF13C	95.00	0	NM_012452.2/ interpretable range CS1>95%
TNFRSF1A	95.00	0	NM_052945.3/ interpretable range CS1>95%
TNFRSF4	95.00	0	NM_001065.3/ interpretable range CS1>95%
TNFRSF9	95.00	0	NM_003327.3/ interpretable range CS1>95%
TNFSF11	95.00	0	NM_001561.5/ interpretable range CS1>95%
TNFSF12	95.00	0	NM_003701.3/ interpretable range CS1>95%
TNFSF13	95.00	0	NM_003809.2/ interpretable range CS1>95%
TOP2B	95.00	0	NM_003808.3/ interpretable range CS1>95%
TPP2	95.00	0	NM_001068.3/ interpretable range CS1>95%
TRAF3	95.00	0	NM_003291.3/ interpretable range CS1>95%
TRAF3IP2	95.00	0	NM_003300.3/ interpretable range CS1>95%
TREX1	95.00	0	NM_147686.3/ interpretable range CS1>95%
TRIM22	95.00	0	NM_033629.5/ interpretable range CS1>95%
TRNT1	95.00	0	NM_006074.4/ interpretable range CS1>95%
TTC7A	95.00	0	NM_014639.3/ interpretable range CS1>95%
TYK2	95.00	0	NM_020458.3/ interpretable range CS1>95%
UBA1	95.00	0	NM_003331.4/ interpretable range CS1>95%
UNC13D	95.00	0	NM_003334.3/ interpretable range CS1>95%
UNC93B1	95.00	0	NM_199242.2/ interpretable range CS1>95%
UNG	95.00	0	NM_030930.3/ interpretable range CS1>95%
USB1	95.00	0	NM_080911.2/ interpretable range CS1>95%
USP18	95.00	0	NM_024598.3/ interpretable range CS1>95%
VPS13B	95.00	0	NM_017414.3/ interpretable range CS1>95%
VPS45	95.00	0	NM_017890.4/ interpretable range CS1>95%
WAS	95.00	0	NM_007259.5/ interpretable range CS1>95%
WDR1	95.00	0	NM_000377.2/ interpretable range CS1>95%
WIPF1	95.00	0	NM_017491.4/ interpretable range CS1>95%
WRAP53	95.00	0	NM_001077269.1/ interpretable range CS1>95%
XIAP	95.00	1	NM_001167.3/ interpretable range CS1>95%
ZAP70	95.00	0	NM_001079.3/ interpretable range CS1>95%
ZBTB24	95.00	0	NM_014797.2/ interpretable range CS1>95%
ZNF341	95.00	0	NM_032819.4/ interpretable range CS1>95%
ZNFX1	95.00	0	NM_021035.2/ interpretable range CS1>95%

Primary immune deficiencies - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ACD	100.00	1
ACP5	100.00	1
ACTB	100.00	1
ADA	99.97	1
ADA2	100.00	1
ADAM17	99.94	1
ADAR	99.84	1
AICDA	99.94	1
AIRE	99.95	1
AK2	99.39	1
ALPI	100.00	1
AP1S3	100.00	1
AP3B1	99.89	1
AP3D1	100.00	1
APOL1	99.99	1
ARHGEF1	99.97	1
ARPC1B	99.92	1
ATG16L1	99.95	1
ATG4A	99.86	1
ATM	99.83	1
ATP2A2	99.98	1
ATP6AP1	100.00	1
B2M	100.00	1
BACH2	99.99	1
BCL10	99.74	1
BCL11B	100.00	1
BLK	99.98	1
BLM	99.80	1
BLNK	99.90	1
BLOC1S3	100.00	1
BLOC1S6	99.98	1
BTK	99.88	1
C1QA	99.99	1
C1QB	99.58	1
C1QC	99.97	1
C1R	99.99	1
C1S	99.98	1
C2	99.99	1
C2orf69	99.97	1
C3	100.00	1
C4A	21.28	1
C4BPA	99.95	1
C5	99.92	1
C6	99.97	1
C7	99.94	1
C8A	99.95	1
C8B	99.37	1
C8G	99.99	1
C9	99.89	1
CARD11	99.97	1
CARD14	99.99	1
CARD9	100.00	1
CARMIL2	99.99	1
CASP10	99.85	1
CASP8	99.92	1
CBL	99.95	1
CCBE1	99.52	1
CCDC28B	99.99	1
CD19	99.98	1
CD247	99.79	1
CD27	99.95	1
CD3D	100.00	1
CD3E	100.00	1
CD3G	100.00	1
CD4	100.00	1
CD40	100.00	1
CD40LG	99.88	1
CD46	99.86	1
CD55	74.12	1
CD59	100.00	1
CD70	99.99	1
CD79A	99.97	1
CD79B	99.93	1
CD81	99.97	1
CD8A	99.97	1
CDC42	98.05	1
CDCA7	99.88	1
CEBPE	100.00	1
CFB	99.97	1
CFD	99.99	1
CFH	99.12	1
CFHR1	84.44	1
CFHR2	90.26	1
CFHR3	91.62	1
CFHR4	99.86	1
CFHR5	99.68	1
CFI	99.87	1
CFP	99.96	1
CFTR	99.45	1
CHD7	99.99	1
CIB1	99.92	1
CIITA	99.99	1
CLCN7	99.99	1
CLEC7A	99.98	1
CLPB	99.97	1
COL7A1	99.99	1
COPA	99.61	1
CORO1A	91.71	1
CPT2	99.65	1
CR2	99.97	1
CREBBP	99.97	1
CSF2RA	93.86	1
CSF2RB	100.00	1
CSF3R	99.97	1
CTC1	100.00	1
CTLA4	99.99	1
CTNNBL1	100.00	1
CTPS1	98.63	1
CTSC	99.97	1
CXCR4	99.98	1
CYBA	99.96	1
CYBB	99.87	1
CYBC1	100.00	1
DBR1	99.92	1
DCLRE1B	99.91	1
DCLRE1C	99.79	1
RIGI	99.84	1
DEF6	100.00	1
DGKE	99.10	1
DHFR	98.89	1
DKC1	99.59	1
DNAJC21	99.67	1
DNASE1	100.00	1
DNASE1L3	99.90	1
DNASE2	100.00	1
DNMT3B	99.98	1
DOCK2	100.00	1
DOCK8	99.86	1
DOK3	99.95	1
DTNBP1	99.89	1
EFL1	99.83	1
ELANE	100.00	1
ELF4	99.97	1
EPG5	99.95	1
ERBIN	99.69	1
ERCC6L2	99.94	1
EXTL3	99.99	1
F12	99.99	1
FAAP24	99.95	1
FADD	99.97	1
FAS	99.99	1
FASLG	99.84	1
FAT4	99.98	1
FCGR2B	70.97	1
FCGR3A	99.93	1
FCGR3B	95.51	1
FCHO1	99.99	1
FCN3	99.48	1
FERMT1	99.90	1
FERMT3	99.99	1
FNIP1	99.87	1
FOXN1	99.97	1
FOXP3	99.93	1
FPR1	100.00	1
G6PC3	99.98	1
G6PD	99.97	1
GATA1	99.97	1
GATA2	99.99	1
GFI1	99.88	1
GIMAP5	100.00	1
GINS1	99.99	1
GUCY2C	99.90	1
HAVCR2	99.93	1
HAX1	100.00	1
HELLS	99.78	1
HMOX1	99.95	1
HPS1	100.00	1
HPS4	99.98	1
HPS6	100.00	1
HTRA2	99.99	1
HYOU1	99.97	1
ICOS	99.95	1
ICOSLG	5.95	1
IFIH1	99.84	1
IFNAR1	99.75	1
IFNAR2	89.62	1
IFNG	99.50	1
IFNGR1	99.87	1
IFNGR2	99.95	1
IGHM	100.00	1
IGKC	99.99	1
IGLL1	100.00	1
IKBKB	99.93	1
IKBKG	57.34	1
IKZF1	99.92	1
IL10	100.00	1
IL10RA	99.99	1
IL10RB	99.99	1
IL12B	99.98	1
IL12RB1	94.11	1
IL12RB2	97.66	1
IL15RA	99.96	1
IL17F	99.99	1
IL17RA	100.00	1
IL17RC	100.00	1
IL18	99.85	1
IL18BP	99.99	1
IL1RL1	99.76	1
IL1RN	99.64	1
IL21	99.95	1
IL21R	99.70	1
IL23R	97.64	1
IL2RA	99.99	1
IL2RB	100.00	1
IL2RG	99.86	1
IL36RN	100.00	1
IL6R	92.46	1
IL6ST	99.88	1
IL7R	99.99	1
ILRUN	100.00	1
INO80	99.96	1
IRAK1	99.98	1
IRAK4	98.85	1
IRF2BP2	100.00	1
IRF3	99.96	1
IRF4	99.99	1
IRF7	100.00	1
IRF8	99.99	1
IRF9	100.00	1
ISG15	100.00	1
ITCH	95.57	1
ITGB2	100.00	1
ITK	99.91	1
ITPKB	99.99	1
IVNS1ABP	99.24	1
JAGN1	100.00	1
JAK1	99.32	1
JAK3	99.99	1
KDM6A	99.74	1
KMT2A	99.97	1
KMT2D	99.98	1
KRAS	99.13	1
LACC1	99.99	1
LAMTOR2	99.92	1
LAT	99.85	1
LCK	99.56	1
LCP2	99.58	1
LIG1	99.93	1
LIG4	100.00	1
LIPA	99.96	1
LPIN2	100.00	1
LRBA	99.76	1
LRRC8A	100.00	1
LSM11	100.00	1
LYST	99.87	1
MAGT1	99.54	1
MALT1	99.71	1
MAN2B1	99.99	1
MAP1LC3B2	100.00	1
MAP3K14	99.98	1
MAPK8	99.64	1
MASP1	99.99	1
MASP2	99.95	1
MBL2	99.93	1
MCM10	99.99	1
MCM4	99.96	1
MEFV	100.00	1
MOGS	100.00	1
MPEG1	100.00	1
MPO	99.97	1
MRE11	99.93	1
MRTFA	92.99	1
MS4A1	99.60	1
MSH6	99.97	1
MSN	99.98	1
MTHFD1	100.00	1
MVK	99.97	1
MYD88	99.99	1
MYO5B	100.00	1
MYSM1	94.16	1
NBAS	99.86	1
NBN	99.93	1
NCF1	57.22	1
NCF2	99.85	1
NCF4	100.00	1
NCKAP1L	99.77	1
NCSTN	99.82	1
NFAT5	99.93	1
NFE2L2	99.97	1
NFKB1	99.80	1
NFKB2	99.98	1
NFKBIA	99.99	1
NHEJ1	99.91	1
NHP2	99.96	1
NKX2-5	99.75	1
NLRC4	99.95	1
NLRP1	95.26	1
NLRP12	99.99	1
NLRP3	100.00	1
NLRP7	99.99	1
NOD2	99.98	1
NOP10	99.99	1
NOS2	96.11	1
NPC1	99.99	1
NRAS	99.66	1
NSMCE3	100.00	1
OAS1	99.96	1
ORAI1	99.63	1
OSTM1	99.56	1
OTULIN	99.95	1
PARN	99.75	1
PAX1	100.00	1
PCCA	99.90	1
PCCB	99.97	1
PEPD	99.98	1
PGM3	99.94	1
PIK3CD	99.99	1
PIK3CG	99.72	1
PIK3R1	99.86	1
PLCG2	99.99	1
PLEKHM1	99.77	1
PLG	99.89	1
PMS2	70.47	1
PNP	100.00	1
POLA1	99.57	1
POLD1	99.96	1
POLD2	99.95	1
POLE	99.99	1
POLE2	99.87	1
POLR3A	99.97	1
POLR3C	99.89	1
POLR3F	99.97	1
NT5C3A	99.95	1
PRF1	100.00	1
PRIM1	99.07	1
PRKCD	99.96	1
PRKDC	99.93	1
PSEN1	100.00	1
PSENEN	100.00	1
PSMA3	99.96	1
PSMB10	99.98	1
PSMB4	99.83	1
PSMB8	99.96	1
PSMB9	99.68	1
PSMG2	99.98	1
PSTPIP1	99.91	1
PSTPIP2	99.98	1
PTEN	99.89	1
PTPN11	99.98	1
PTPN2	99.98	1
PTPN6	100.00	1
PTPRC	93.90	1
RAB27A	99.94	1
RAC2	99.99	1
RAG1	100.00	1
RAG2	100.00	1
RANBP2	99.37	1
RASGRP1	100.00	1
RBCK1	100.00	1
RC3H1	99.22	1
RECQL4	100.00	1
REL	96.99	1
RELA	99.99	1
RELB	99.97	1
RFX5	99.88	1
RFXANK	100.00	1
RFXAP	99.98	1
RHOH	99.99	1
RIPK1	99.93	1
RMRP	100.00	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNF168	99.97	1
RNF31	100.00	1
RORC	99.42	1
RPSA	0.00	1
RTEL1	100.00	1
SAMD9	99.93	1
SAMD9L	99.95	1
SAMHD1	99.98	1
SASH3	99.99	1
SBDS	99.93	1
SDHA	99.98	1
SEC61A1	99.99	1
SEMA3E	99.13	1
SERPING1	100.00	1
SGPL1	99.95	1
SH2D1A	98.98	1
SH3BP2	100.00	1
SH3KBP1	99.95	1
SKIC2	99.98	1
SLC11A1	99.99	1
SLC29A3	99.98	1
SLC35C1	100.00	1
SLC37A4	99.90	1
SLC39A7	100.00	1
SLC46A1	100.00	1
SLC7A7	99.99	1
SLC9A3	100.00	1
SMARCAL1	99.97	1
SMARCD2	99.99	1
SNX10	99.96	1
SOCS1	99.98	1
SOCS4	99.92	1
PMP22	99.99	1
SPI1	99.81	1
SPINK5	99.91	1
SPPL2A	99.88	1
SRP54	99.83	1
SRP72	99.91	1
STAT1	99.83	1
STAT2	99.89	1
STAT3	99.97	1
STAT4	99.77	1
STAT5B	99.50	1
STAT6	99.87	1
STIM1	99.99	1
STING1	99.87	1
STK4	99.91	1
STN1	99.88	1
STX11	100.00	1
STXBP2	100.00	1
STXBP3	85.74	1
SYK	99.96	1
TAFAZZIN	99.98	1
TAP1	99.97	1
TAP2	99.94	1
TAPBP	99.98	1
TBK1	99.07	1
TBX1	99.95	1
TBX21	99.99	1
TCF3	100.00	1
TCIRG1	99.99	1
TCN2	100.00	1
TERC	98.59	1
TERT	100.00	1
TET2	99.99	1
TFRC	99.87	1
TGFB1	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
THBD	100.00	1
TICAM1	99.99	1
TINF2	100.00	1
TIRAP	100.00	1
TLR3	99.99	1
TLR4	99.99	1
TLR7	99.98	1
TMC6	100.00	1
TMC8	99.92	1
TNFAIP3	99.94	1
TNFRSF11A	100.00	1
TNFRSF13B	99.43	1
TNFRSF13C	99.99	1
TNFRSF1A	100.00	1
TNFRSF4	100.00	1
TNFRSF9	99.99	1
TNFSF11	99.89	1
TNFSF12	100.00	1
TNFSF13	100.00	1
TOP2B	99.72	1
TPP2	99.89	1
TRAC	100.00	1
TRAF3	99.97	1
TRAF3IP2	100.00	1
TREX1	100.00	1
TRIM22	100.00	1
TRNT1	99.97	1
SKIC3	99.82	1
TTC7A	99.77	1
TYK2	99.99	1
UBA1	99.93	1
UNC119	100.00	1
UNC13D	100.00	1
UNC93B1	99.75	1
UNG	100.00	1
USB1	89.62	1
USP18	93.05	1
VAV1	99.99	1
VPS13B	99.90	1
VPS45	93.94	1
WAS	99.90	1
WDR1	99.99	1
WIPF1	99.87	1
WRAP53	100.00	1
XBP1	99.99	1
XIAP	99.36	1
ZAP70	99.95	1
ZBTB24	99.99	1
ZNF341	100.00	1
ZNFX1	99.99	1