RBCK1 | Belgian Genetic Tests database

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Name:	RANBP2-type and C3HC4-type zinc finger containing 1
Symbol:	RBCK1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	HOIL1 Heme-oxidized IRP2 ubiquitin ligase 1 RBCK2 RNF54 UBCE7IP3 XAP4 ZRANB4 heme-oxidized IRP2 ubiquitin ligase 1
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCB11	99.86	1
ABCB4	99.71	1
ABCC2	99.94	1
ABCD3	92.70	1
ABCG5	99.96	1
ABCG8	99.95	1
ACADM	96.14	1
ACADVL	100.00	1
ACAT1	99.81	1
ACOX2	99.81	1
ADK	99.78	1
AGL	97.67	1
AGPAT2	100.00	1
AKR1D1	99.91	1
ALAD	99.99	1
ALDOA	100.00	1
ALDOB	100.00	1
ALG8	95.49	1
ALG9	99.73	1
ALMS1	99.90	1
AMACR	100.00	1
ANKS6	100.00	1
AP1S1	99.49	1
ARG1	99.95	1
ASL	99.98	1
ASS1	77.52	1
ATP7B	100.00	1
ATP8B1	99.94	1
BAAT	99.98	1
BCS1L	99.99	1
BSCL2	99.99	1
BTD	100.00	1
CAVIN1	100.00	1
CC2D2A	99.95	1
CCDC115	99.90	1
CFTR	99.45	1
CLDN1	99.99	1
COG6	99.86	1
COG7	99.74	1
CYP21A2	99.91	1
CPT1A	99.98	1
CPT2	99.65	1
CREB3L3	99.98	1
CYP27A1	100.00	1
CYP7A1	99.99	1
CYP7B1	99.82	1
DCDC2	99.96	1
DGUOK	99.93	1
DHCR7	99.97	1
DKC1	99.59	1
DLD	99.89	1
DNAJB11	99.97	1
EHHADH	99.99	1
EIF2AK3	97.43	1
ENO3	100.00	1
EPHX1	99.97	1
EPM2A	99.99	1
ETFA	99.88	1
ETFB	100.00	1
FANCA	99.98	1
FARSA	100.00	1
FARSB	99.64	1
FBP1	100.00	1
FTH1	22.62	1
G6PC1	99.93	1
GAA	100.00	1
GALE	99.90	1
GALK1	100.00	1
GALM	100.00	1
GALT	100.00	1
GANAB	99.97	1
GBA1	96.92	1
GBE1	99.73	1
GFM1	99.95	1
GNAS	100.00	1
GUSB	95.07	1
GYS1	99.98	1
GYS2	99.86	1
HADHA	99.98	1
HAMP	99.99	1
HFE	100.00	1
HJV	99.99	1
HLCS	99.97	1
HNF1B	100.00	1
HSD17B4	99.71	1
HSD3B7	100.00	1
IARS1	99.89	1
IFT140	100.00	1
INVS	99.94	1
IVD	100.00	1
JAG1	100.00	1
KIF12	99.99	1
KRT18	47.42	1
KRT8	71.60	1
LAMP2	98.95	1
LARS1	99.87	1
LDHA	99.94	1
LIPA	99.96	1
LRP5	99.95	1
LSR	99.98	1
MARS1	99.97	1
MCEE	99.90	1
MKS1	99.92	1
MMUT	99.68	1
MPI	99.95	1
MPV17	99.98	1
MVK	99.97	1
MYO5B	100.00	1
NBAS	99.86	1
NEK9	99.99	1
NEU1	99.98	1
NGLY1	99.93	1
NHLRC1	100.00	1
NOTCH2	99.03	1
NPC1	99.99	1
NPC2	100.00	1
NPHP1	99.05	1
NPHP3	99.89	1
NPHP4	99.98	1
NR1H4	99.49	1
OXCT1	99.82	1
PODXL	99.99	1
PCCA	99.90	1
PCCB	99.97	1
PEX1	98.80	1
PEX10	100.00	1
PEX11B	99.62	1
PEX12	100.00	1
PEX13	99.36	1
PEX14	100.00	1
PEX16	99.94	1
PEX19	99.25	1
PEX2	100.00	1
PEX26	100.00	1
PEX3	99.85	1
PEX5	99.89	1
PEX6	99.99	1
PEX7	99.72	1
PFKM	99.57	1
PGAM2	100.00	1
PGK1	99.93	1
PGM1	96.77	1
PHKA1	99.84	1
PHKA2	99.92	1
PHKB	99.69	1
PHKG2	99.86	1
PKD1	99.98	1
PKD2	99.91	1
PKHD1	99.95	1
PMM2	99.93	1
PNPLA3	100.00	1
POLG	100.00	1
PPM1F	100.00	1
PRKAG2	99.96	1
PRKCSH	99.99	1
PYGL	99.99	1
PYGM	99.96	1
RBCK1	100.00	1
RINT1	99.99	1
RPGRIP1L	96.35	1
SBDS	99.93	1
SCO1	99.98	1
SEC63	99.84	1
SERPINA1	100.00	1
SLC10A1	99.99	1
SLC10A2	99.99	1
SLC16A1	99.26	1
SLC25A13	99.67	1
SLC25A20	100.00	1
SLC2A2	99.96	1
SLC30A10	99.99	1
SLC51A	100.00	1
SLCO1B1	98.69	1
SLCO1B3	99.85	1
SMPD1	100.00	1
PMP22	99.99	1
STN1	99.88	1
STT3B	99.96	1
TALDO1	100.00	1
TANGO2	99.85	1
TFR2	99.97	1
TJP2	99.99	1
TMEM216	99.98	1
TMEM67	99.69	1
TRMU	100.00	1
SKIC3	99.82	1
TWNK	100.00	1
UGT1A1	99.98	1
UNC45A	100.00	1
UROS	100.00	1
USP53	99.92	1
UTP4	99.91	1
VIPAS39	99.87	1
VPS33B	99.95	1
VPS50	98.35	1
WDR83OS	100.00	1
YARS1	99.29	1
ZFYVE19	99.99	1

Myopathy (332 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AARS1	100.00	1	NM_001605.3
ABHD5	100.00	1	NM_016006.6
ACAD9	100.00	1	NM_014049.5
ACADM	100.00	1	NM_000016.6
ACADVL	100.00	1	NM_000018.4
ACTA1	100.00	1	NM_001100.4
ACVR1	100.00	1	NM_001111067.4
ADSS1	100.00	1	NM_199165.2
AGK	100.00	1	NM_018238.4
AGL	100.00	1	NM_000642.3
AGRN	100.00	1	NM_198576.4
AIFM1	100.00	1	NM_004208.4
ALDOA	100.00	1	NM_184041.4
ALG13	98.00	1	NM_001099922.3
ALG14	100.00	1	NM_144988.4
ALG2	100.00	1	NM_033087.4
ALS2	100.00	1	NM_020919.4
AMPD1	100.00	1	NM_000036.2
ANG	100.00	1	NM_001145.4
ANO5	100.00	1	NM_213599.3
AR	100.00	1	NM_000044.6
ASAH1	100.00	1	NM_177924.5
ASCC1	100.00	1	NM_001198800.3
ATP2A1	100.00	1	NM_004320.6
ATP7A	100.00	1	NM_000052.7
ATXN2	100.00	1	NM_001372574.1
B3GALNT2	100.00	1	NM_152490.5
B4GAT1	100.00	1	NM_006876.3
BAG3	100.00	1	NM_004281.4
BCS1L	100.00	1	NM_001079866.2
BICD2	100.00	1	NM_001003800.2
BIN1	100.00	1	NM_139343.3
BSCL2	100.00	1	NM_001122955.3
BVES	100.00	1	NM_001199563.2
C1QBP	100.00	1	NM_001212.4
C9ORF72	100.00	0	NM_018325.5
CACNA1A	100.00	1	NM_023035.3
CACNA1S	100.00	1	NM_000069.3
CAPN3	100.00	1	NM_000070.3
CASQ1	100.00	1	NM_001231.5
CAV3	100.00	1	NM_033337.3
CAVIN1	100.00	1	NM_012232.6
CCDC78	100.00	1	NM_001031737.3
CFL2	100.00	1	NM_138638.5
CHAT	100.00	1	NM_020549.4
CHCHD10	100.00	1	NM_213720.3
CHKB	100.00	1	NM_005198.5
CHMP2B	100.00	1	NM_014043.4
CHRNA1	100.00	1	NM_000079.4
CHRNB1	100.00	1	NM_000747.3
CHRND	100.00	1	NM_000751.3
CHRNE	100.00	1	NM_000080.4
CHRNG	100.00	1	NM_005199.5
CHST14	100.00	1	NM_130468.4
CLCN1	100.00	1	NM_000083.3
CLN3	100.00	1	NM_001042432.2
CNBP	100.00	1	NM_003418.5
CNTN1	100.00	1	NM_001843.4
COL12A1	100.00	1	NM_004370.6
COL13A1	100.00	1	NM_001130103.2
COL6A1	100.00	1	NM_001848.3
COL6A2	100.00	1	NM_001849.4
COL6A3	100.00	1	NM_004369.4
COLQ	100.00	1	NM_005677.4
COQ9	100.00	1	NM_020312.4
COX10	100.00	1	NM_001303.4
COX15	100.00	1	NM_078470.6
COX20	100.00	1	NM_198076.6
COX6B1	100.00	1	NM_001863.5
COX8A	100.00	1	NM_004074.3
CPT2	100.00	1	NM_000098.3
CRPPA	100.00	1	NM_001101426.4
CRYAB	100.00	1	NM_001289808.2
DAG1	100.00	1	NM_001177634.2
DCTN1	100.00	1	NM_004082.4
DES	100.00	1	NM_001927.4
DGUOK	100.00	1	NM_080916.3
DMD	100.00	1	NM_004006.2
DMPK	100.00	1	NM_004409.5
DNA2	100.00	1	NM_001080449.3
DNAJB2	100.00	1	NM_006736.6
DNAJB6	100.00	1	NM_058246.4
DNM2	100.00	1	NM_001005361.3
DNMT3B	100.00	1	NM_006892.4
DOK7	100.00	1	NM_173660.5
DPAGT1	100.00	1	NM_001382.4
DPM1	99.00	1	NM_001317035.1
DPM2	100.00	1	NM_003863.4
DPM3	100.00	1	NM_153741.2
DYNC1H1	100.00	1	NM_001376.5
DYSF	100.00	1	NM_001130987.2
ECEL1	100.00	1	NM_004826.4
EMD	100.00	1	NM_000117.3
ENO3	100.00	1	NM_053013.4
ERBB3	100.00	1	NM_001982.4
ERBB4	100.00	1	NM_005235.3
ETFA	100.00	1	NM_000126.4
ETFB	100.00	1	NM_001985.3
ETFDH	100.00	1	NM_004453.4
EXOSC3	100.00	1	NM_016042.4
EXOSC8	100.00	1	NM_181503.3
FASTKD2	100.00	1	NM_001136193.2
FBN2	100.00	1	NM_001999.4
FBXL4	100.00	1	NM_001278716.2
FBXO38	100.00	1	NM_205836.3
FDX2	100.00	1	NM_001031734.4
FHL1	100.00	1	NM_001159699.2
FIG4	100.00	1	NM_014845.6
FKRP	100.00	1	NM_024301.5
FKTN	100.00	1	NM_006731.2
FLAD1	100.00	1	NM_025207.5
FLNC	100.00	1	NM_001458.4
FOXRED1	100.00	1	NM_017547.4
FUS	100.00	1	NM_004960.4
FXR1	100.00	1	NM_005087.4
GAA	100.00	1	NM_000152.5
GABRA3	100.00	1	NM_000808.4
GARS1	100.00	1	NM_002047.4
GBE1	100.00	1	NM_000158.4
GFER	100.00	1	NM_005262.3
GFPT1	100.00	1	NM_001244710.2
GLE1	100.00	1	NM_001003722.2
GLI3	100.00	1	NM_000168.6
GMPPB	100.00	1	NM_021971.4
GNE	100.00	1	NM_005476.7
GOLGA2	100.00	1	XM_005251932.1
GYG1	100.00	1	NM_004130.4
GYS1	100.00	1	NM_002103.5
HACD1	100.00	1	NM_014241.4
HADHA	100.00	1	NM_000182.5
HADHB	100.00	1	NM_000183.3
HEXB	100.00	1	NM_000521.4
HNRNPA1	100.00	1	NM_031157.4
HNRNPA2B1	100.00	1	NM_031243.3
HNRNPDL	100.00	1	NM_031372.3
HRAS	100.00	1	NM_005343.4
HSPB3	100.00	1	NM_006308.3
HSPB8	100.00	1	NM_014365.3
HSPG2	100.00	1	NM_005529.7
IBA57	100.00	1	NM_001010867.4
IGHMBP2	100.00	1	NM_002180.3
INPP5K	100.00	1	NM_016532.4
ISCU	100.00	1	NM_213595.3
ITGA7	100.00	1	NM_002206.3
KBTBD13	100.00	1	NM_001101362.2
KCNA1	100.00	1	NM_000217.3
KCNH2	100.00	1	NM_000238.4
KCNJ18	100.00	1	NM_001194958.2
KCNJ2	100.00	1	NM_000891.3
KCNQ1	100.00	1	NM_000218.3
KIF5A	100.00	1	NM_004984.4
KLHL40	100.00	1	NM_152393.4
KLHL41	100.00	1	NM_006063.3
KLHL9	100.00	1	NM_018847.4
KY	100.00	1	NM_178554.6
LAMA2	100.00	1	NM_000426.3
LAMA5	100.00	1	NM_005560.6
LAMB2	100.00	1	NM_002292.4
LAMP2	100.00	1	NM_002294.3
LARGE1	100.00	1	NM_004737.6
LDB3	98.00	1	NM_001171610.2
LDHA	100.00	1	NM_005566.4
LGI4	100.00	1	NM_139284.3
LIMS2	100.00	1	NM_017980.4
LMNA	100.00	1	NM_170707.4
LMOD3	100.00	1	NM_198271.5
LPIN1	100.00	1	NM_001349206.2
LRP4	100.00	1	NM_002334.4
LRPPRC	100.00	1	NM_133259.4
MAP3K20	100.00	1	NM_016653.3
MATR3	100.00	1	NM_018834.6
MCCC1	100.00	1	NM_020166.5
MCCC2	100.00	1	NM_022132.5
MEGF10	100.00	1	NM_001256545.2
MGME1	100.00	1	NM_052865.4
MPV17	100.00	1	NM_002437.5
MSTN	100.00	1	NM_005259.3
MTM1	100.00	1	NM_000252.3
MTMR14	100.00	1	NM_001077525.3
MUSK	100.00	1	NM_005592.4
MYBPC1	100.00	1	NM_002465.4
MYBPC3	100.00	1	NM_000256.3
MYH2	100.00	1	NM_017534.6
MYH3	100.00	1	NM_002470.4
MYH7	100.00	1	NM_000257.4
MYH8	100.00	1	NM_002472.3
MYL1	100.00	1	NM_079420.3
MYMK	100.00	1	NM_001080483.3
MYO18B	100.00	1	NM_032608.7
MYO9A	100.00	1	NM_006901.4
MYOT	100.00	1	NM_006790.3
MYPN	100.00	1	NM_032578.3
NDUFA1	100.00	1	NM_004541.4
NDUFA10	100.00	1	NM_004544.4
NDUFA11	100.00	1	NM_175614.5
NDUFA12	100.00	1	NM_018838.5
NDUFA2	100.00	1	NM_002488.5
NDUFA3	100.00	1	NM_004542.4
NDUFA9	100.00	1	NM_005002.5
NDUFAF1	100.00	1	NM_016013.4
NDUFAF2	100.00	1	NM_174889.5
NDUFAF5	100.00	1	NM_024120.5
NDUFAF6	100.00	1	NM_152416.4
NDUFS1	100.00	1	NM_005006.7
NDUFS2	100.00	1	NM_004550.4
NDUFS3	100.00	1	NM_004551.3
NDUFS4	100.00	1	NM_002495.4
NDUFS7	100.00	1	NM_024407.5
NDUFS8	100.00	1	NM_002496.4
NDUFV1	100.00	1	NM_007103.4
NDUFV2	100.00	1	NM_021074.5
NEB	88.00	1	NM_001271208.2
NEFH	100.00	1	NM_021076.4
NUBPL	100.00	1	NM_025152.3
OPTN	100.00	1	NM_001008212.2
ORAI1	100.00	1	NM_032790.3
PABPN1	100.00	1	NM_004643.3
PET100	100.00	1	NM_001171155.2
PFKM	100.00	1	NM_000289.6
PFN1	100.00	1	NM_005022.4
PGAM2	100.00	1	NM_000290.4
PGK1	100.00	1	NM_000291.4
PGM1	100.00	1	NM_002633.3
PHKA1	100.00	1	NM_002637.4
PHKB	100.00	1	NM_000293.3
PHKG1	100.00	1	NM_001258459.1
PIEZO2	100.00	1	NM_022068.3
PIP5K1C	100.00	1	NM_012398.3
PLEC	100.00	1	NM_201380.4
PLEKHG5	100.00	1	NM_001265592.1
PNPLA2	100.00	1	NM_020376.4
PNPLA8	100.00	1	NM_001256007.3
POGLUT1	100.00	1	NM_152305.3
POLG	100.00	1	NM_001126131.2
POLG2	100.00	1	NM_007215.4
POMGNT1	100.00	1	NM_001243766.1
POMGNT2	100.00	1	NM_032806.6
POMK	100.00	1	NM_032237.5
POMT1	100.00	1	NM_001077365.2
POMT2	100.00	1	NM_013382.5
PREPL	100.00	1	NM_001171613.2
PRKAG2	100.00	1	NM_016203.4
PRPH	100.00	1	NM_006262.4
PUS1	100.00	1	NM_025215.6
PYGM	100.00	1	NM_005609.4
PYROXD1	100.00	1	NM_024854.5
RAPSN	100.00	1	NM_005055.5
RBCK1	100.00	1	NM_031229.4
RBM7	100.00	1	NM_001286045.1
REEP1	100.00	1	NM_001371279.1
RNASEH1	100.00	1	NM_002936.5
RRM2B	100.00	1	NM_015713.5
RXYLT1	100.00	1	NM_014254.3
RYR1	100.00	1	NM_000540.3
SCN4A	100.00	1	NM_000334.4
SCO1	100.00	1	NM_004589.4
SCO2	100.00	1	NM_005138.3
SELENON	90.00	1	NM_020451.3
SETX	100.00	1	NM_015046.7
SGCA	100.00	1	NM_000023.4
SGCB	100.00	1	NM_000232.5
SGCD	100.00	1	XM_017009724.1
SGCG	100.00	1	NM_000231.2
SIGMAR1	100.00	1	NM_005866.4
SIL1	100.00	1	NM_022464.5
SLC18A3	100.00	1	NM_003055.3
SLC22A5	100.00	1	NM_003060.4
SLC25A20	100.00	1	NM_000387.6
SLC25A4	100.00	1	NM_001151.4
SLC52A2	100.00	1	NM_001363118.2
SLC52A3	100.00	1	NM_033409.4
SLC5A7	100.00	1	NM_021815.5
SMCHD1	100.00	1	NM_015295.3
SMN1	6.00	0	NM_000344.3+(exon 1 Ã 7 non couvert)
SNAP25	100.00	1	NM_130811.4
SOD1	100.00	1	NM_000454.5
SPEG	100.00	1	NM_005876.5
SPG11	100.00	1	NM_025137.4
SPG7	100.00	1	NM_003119.4
SPTBN4	100.00	1	NM_020971.3
SQSTM1	100.00	1	NM_003900.5
STAC3	100.00	1	NM_145064.3
STIM1	100.00	1	NM_001277961.1
SUCLA2	100.00	1	NM_003850.2
SUCLG1	100.00	1	NM_003849.4
SURF1	100.00	1	NM_003172.4
SYNE1	100.00	1	NM_182961.4
SYNE2	100.00	1	NM_182914.2
SYT2	100.00	1	NM_177402.5
TACO1	100.00	1	NM_016360.4
TANGO2	100.00	1	NM_152906.7
TARDBP	100.00	1	NM_007375.4
TARS2	100.00	1	NM_025150.5
TAFAZZIN	100.00	1	NM_000116.5
TCAP	100.00	1	NM_003673.4
TIA1	100.00	1	NM_022173.4
TK2	100.00	1	NM_004614.5
TMEM43	100.00	1	NM_024334.3
TNNI2	100.00	1	NM_003282.4
TNNT1	100.00	1	NM_003283.6
TNNT3	100.00	1	NM_006757.4
TNPO3	100.00	1	NM_012470.3
TOP3A	100.00	1	NM_004618.5
TOR1AIP1	100.00	1	NM_001267578.1
TPM2	100.00	1	NM_003289.4
TPM3	100.00	1	NM_152263.4
TRAPPC11	100.00	1	NM_021942.6
TRIM32	100.00	1	NM_012210.3
TRIM54	100.00	1	NM_187841.3
TRIM63	100.00	1	NM_032588.3
TRIP4	100.00	1	NM_016213.5
TRMT5	100.00	1	NM_020810.3
TRPV4	100.00	1	NM_021625.5
TSFM	100.00	1	NM_005726.6
TTN	100.00	1	NM_001267550.2
TUBA4A	100.00	1	NM_006000.3
TWNK	100.00	1	NM_021830.5
TYMP	100.00	1	NM_001257989.1
UBA1	100.00	1	NM_003334.4
UBQLN2	100.00	1	NM_013444.3
VAMP1	100.00	1	NM_014231.5
VAPB	100.00	1	NM_004738.5
VARS1	100.00	1	NM_001167734.1
VCP	100.00	1	NM_007126.5
VMA21	100.00	1	NM_001363810.1
VPS33B	100.00	1	NM_018668.5
VRK1	100.00	1	NM_003384.3
WARS1	100.00	1	NM_004184.4
XK	100.00	1	NM_021083.4
YARS2	100.00	1	NM_001040436.3
ZC4H2	100.00	1	NM_018684.4

Myopathy (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABHD5	99.64	1
ACAD9	99.97	1
ACADM	99.64	1
ACADS	100.00	1
ACADVL	99.94	1
ACTA1	99.99	1
ACTN2	99.96	1
ADSS1	99.99	1
AGK	99.98	1
AGL	99.92	1
AGRN	99.83	1
ALDOA	100.00	1
ALG14	99.97	1
ALG2	99.95	1
ANO5	99.96	1
ANXA11	99.88	1
ASCC1	91.38	1
ATP1A2	99.96	1
ATP2A1	99.97	1
B3GALNT2	94.03	1
B4GAT1	99.95	1
BAG3	100.00	1
BIN1	100.00	1
BVES	99.97	1
CACNA1S	99.92	1
CAP2	99.97	1
CAPN3	99.98	1
CASQ1	99.91	1
CAV3	99.85	1
CAVIN1	99.99	1
CFL2	99.81	1
CHAT	99.77	1
CHD7	99.96	1
CHKB	99.89	1
CHRNA1	99.96	1
CHRNB1	99.99	1
CHRND	100.00	1
CHRNE	99.95	1
CHRNG	99.87	1
CLCN1	99.97	1
CNBP	99.97	1
COL12A1	99.95	1
COL13A1	99.56	1
COL25A1	99.96	1
COL6A1	100.00	1
COL6A2	99.96	1
COL6A3	99.99	1
COLQ	99.97	1
COX6A2	98.51	1
CPT2	99.99	1
CRPPA	99.59	1
CRYAB	99.98	1
DAG1	100.00	1
DCST2	99.92	1
DES	100.00	1
DGUOK	99.76	1
DMD	99.41	1
DMPK	99.98	1
DNAJB6	99.91	1
DNM2	99.96	1
DNMT3B	99.98	1
DOK7	99.73	1
DPAGT1	99.96	1
DPM2	100.00	1
DPM3	100.00	1
DYSF	99.99	1
EMD	97.92	1
ENO3	99.98	1
ETFA	99.84	1
ETFDH	99.76	1
FAM111B	99.99	1
FDX2	99.94	1
FHL1	99.92	1
FKRP	99.99	1
FKTN	99.91	1
FLAD1	100.00	1
FLNC	99.99	1
FXR1	99.81	1
GAA	99.99	1
GBE1	99.84	1
GFER	99.96	1
GFPT1	99.90	1
GGPS1	99.89	1
GMPPB	99.95	1
GNE	99.98	1
GYG1	99.97	1
GYS1	99.98	1
HACD1	99.78	1
HADH	99.97	1
HADHA	99.96	1
HADHB	99.97	1
HNRNPA1	100.00	1
HNRNPA2B1	99.95	1
HNRNPDL	99.92	1
INPP5K	99.99	1
ISCU	99.94	1
ITGA7	99.98	1
ITGA9	99.80	1
JAG2	98.50	1
KBTBD13	100.00	1
KCNJ2	100.00	1
KIF21A	99.80	1
KLHL40	100.00	1
KLHL41	99.96	1
KLHL9	100.00	1
KY	98.80	1
LAMA2	99.97	1
LAMB2	99.99	1
LAMP2	98.98	1
LARGE1	99.99	1
LDB3	98.02	1
LDHA	99.77	1
LIMS2	99.65	1
LMNA	99.98	1
LMOD3	99.96	1
LPIN1	99.97	1
LRP4	99.98	1
MAP3K20	99.92	1
MATR3	99.87	1
MB	99.99	1
MEGF10	99.90	1
MICU1	99.98	1
MLIP	99.94	1
MSTO1	98.87	1
MTM1	99.36	1
MUSK	99.97	1
MYBPC1	99.90	1
MYBPC3	99.98	1
MYH14	99.79	1
MYH2	99.97	1
MYH3	99.96	1
MYH7	100.00	1
MYL1	99.93	1
MYL2	99.98	1
MYMX	100.00	1
MYO18B	99.98	1
MYO9A	99.91	1
MYOD1	99.82	1
MYOT	99.98	1
MYPN	99.97	1
NEB	99.77	1
NPL	99.95	1
OPA1	99.87	1
ORAI1	97.73	1
PABPN1	99.67	1
PAX7	99.96	1
PFKM	99.82	1
PGAM2	100.00	1
PGK1	99.71	1
PGM1	99.89	1
PHKA1	99.57	1
PHKB	99.79	1
PHOX2A	96.75	1
PLEC	99.98	1
PNPLA2	99.99	1
PNPLA8	99.81	1
POGLUT1	99.91	1
POLG	99.98	1
POLG2	99.68	1
POMGNT1	99.98	1
POMGNT2	100.00	1
POMK	99.98	1
POMT1	99.91	1
POMT2	99.93	1
POPDC3	99.93	1
PREPL	99.96	1
PRKAG2	99.92	1
PYGM	99.98	1
PYROXD1	99.83	1
RAPSN	99.99	1
RBCK1	99.99	1
RXYLT1	99.53	1
RYR1	99.92	1
SCN4A	99.77	1
SELENON	95.81	1
SGCA	99.99	1
SGCB	99.62	1
SGCD	99.94	1
SGCG	99.87	1
SIL1	99.99	1
SLC18A3	100.00	1
SLC22A5	99.99	1
SLC25A20	99.90	1
SLC25A4	99.96	1
SLC5A7	99.97	1
SMCHD1	99.82	1
SMPX	99.37	1
SPEG	99.97	1
SQSTM1	100.00	1
STAC3	99.94	1
STIM1	99.97	1
SVIL	99.94	1
SYNE1	99.96	1
SYNE2	99.85	1
SYT2	99.89	1
TCAP	100.00	1
TIA1	99.56	1
TK2	99.99	1
TMEM126B	99.68	1
TMEM43	99.98	1
TNNC2	99.95	1
TNNI2	100.00	1
TNNT1	99.82	1
TNNT3	100.00	1
TNPO3	99.95	1
TNXB	99.95	1
TOP3A	99.95	1
TOR1AIP1	99.84	1
TPI1	99.95	1
TPM2	99.93	1
TPM3	99.95	1
TRAPPC11	99.59	1
TRDN	99.03	1
TRIM32	100.00	1
TRIP4	99.91	1
TRMT5	99.83	1
TTN	99.96	1
TUBB3	100.00	1
TWNK	100.00	1
UNC45B	99.93	1
VAMP1	99.70	1
VCP	99.92	1
VMA21	97.04	1
VWA1	91.35	1

Neuromuscular disorders (548 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS1	100.00	No comment
ABCD1	97.56	No comment
ABHD12	88.30	No comment
ABHD5	99.85	No comment
ACAD9	100.00	No comment
ACADL	98.57	No comment
ACADM	99.87	No comment
ACADS	97.51	No comment
ACADVL	98.04	No comment
ACTA1	99.79	No comment
ACVR1	100.00	No comment
ADAR	100.00	No comment
ADSS1	99.98	No comment
AFG3L2	94.80	No comment
AGK	100.00	No comment
AGL	100.00	No comment
AGRN	96.53	No comment
AIFM1	99.98	No comment
AIMP1	99.97	No comment
ALDH18A1	100.00	No comment
ALDH3A2	99.94	No comment
ALDOA	100.00	No comment
ALG13	99.53	No comment
ALG14	100.00	No comment
ALG2	99.83	No comment
ALS2	100.00	No comment
AMPD1	100.00	No comment
AMPD2	99.90	No comment
ANG	100.00	No comment
ANO5	100.00	No comment
ANXA11	99.99	No comment
AP4B1	100.00	No comment
AP4E1	99.99	No comment
AP4M1	100.00	No comment
AP4S1	100.00	No comment
AP5Z1	99.25	No comment
APTX	99.96	No comment
AR	100.00	No comment
ARG1	100.00	No comment
ARHGEF10	99.98	No comment
ARHGEF28	99.05	No comment
ARL6IP1	100.00	No comment
ARSI	99.82	No comment
ASAH1	100.00	No comment
ASCC1	91.30	No comment
ATL1	99.89	No comment
ATL3	99.93	No comment
ATM	100.00	No comment
ATP13A2	98.30	No comment
ATP1A1	100.00	No comment
ATP2A1	100.00	No comment
ATP7A	100.00	No comment
ATXN2	93.25	No comment
AUH	99.24	No comment
B3GALNT2	92.96	No comment
B4GAT1	99.99	No comment
B4GALNT1	99.99	No comment
BAG3	100.00	No comment
BCS1L	100.00	No comment
BICD2	100.00	No comment
BIN1	99.94	No comment
BSCL2	100.00	No comment
BVES	100.00	No comment
TWNK	100.00	No comment
MTRFR	100.00	No comment
C19ORF12	100.00	No comment
C1QBP	99.47	No comment
C9ORF72	99.96	No comment
CACNA1A	99.53	No comment
CACNA1S	100.00	No comment
CAPN1	99.97	No comment
CAPN3	99.99	No comment
CASQ1	100.00	No comment
CAV3	100.00	No comment
CCDC78	100.00	No comment
CCT5	99.92	No comment
CFL2	100.00	No comment
CHAT	99.97	No comment
CHCHD10	99.66	No comment
CHKB	99.75	No comment
CHMP2B	100.00	No comment
CHRNA1	99.99	No comment
CHRNB1	99.95	No comment
CHRND	100.00	No comment
CHRNE	100.00	No comment
CHRNG	99.87	No comment
CHST14	99.50	No comment
CLCN1	100.00	No comment
CLN3	100.00	No comment
CLN8	100.00	No comment
CLTCL1	99.04	No comment
CNBP	100.00	No comment
CNTN1	100.00	No comment
CNTNAP1	100.00	No comment
COL12A1	100.00	No comment
COL13A1	99.52	No comment
COL6A1	99.90	No comment
COL6A2	99.98	No comment
COL6A3	100.00	No comment
COLQ	100.00	No comment
COQ9	100.00	No comment
COX10	100.00	No comment
COX15	99.99	No comment
COX20	100.00	No comment
COX6A1	100.00	No comment
COX6B1	100.00	No comment
COX8A	100.00	No comment
CPT1C	100.00	No comment
CPT2	98.55	No comment
CRYAB	100.00	No comment
CSF1R	99.99	No comment
CTDP1	100.00	No comment
CYP27A1	99.38	No comment
CYP2U1	93.20	No comment
CYP7B1	95.41	No comment
DAG1	100.00	No comment
DARS2	100.00	No comment
DCAF8	100.00	No comment
DCTN1	100.00	No comment
DDHD1	99.58	No comment
DDHD2	100.00	No comment
DES	100.00	No comment
DGAT2	100.00	No comment
DGUOK	100.00	No comment
DHTKD1	99.54	No comment
DMD	99.96	No comment
DMPK	99.91	No comment
DMXL2	100.00	No comment
DNAJB2	100.00	No comment
DNAJB6	91.94	No comment
DNM2	99.84	No comment
DNMT1	99.54	No comment
DOK7	97.44	No comment
DOLK	100.00	No comment
DPAGT1	100.00	No comment
DPM1	100.00	No comment
DPM2	100.00	No comment
DPM3	100.00	No comment
DST	100.00	No comment
DYNC1H1	99.92	No comment
DYSF	99.72	No comment
ECEL1	99.80	No comment
EGR2	100.00	No comment
ELOVL4	100.00	No comment
EMD	98.97	No comment
ENO3	100.00	No comment
ENTPD1	100.00	No comment
ERBB3	100.00	No comment
ERBB4	100.00	No comment
ERCC2	98.91	No comment
ERLIN1	100.00	No comment
ERLIN2	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
EXOSC3	100.00	No comment
EXOSC8	100.00	No comment
FA2H	95.71	No comment
FAM111B	100.00	No comment
HYCC1	100.00	No comment
RETREG1	93.72	No comment
FARS2	100.00	No comment
FASTKD2	100.00	No comment
FBLN5	100.00	No comment
FBN2	100.00	No comment
FBXL4	100.00	No comment
FBXO38	100.00	No comment
FBXO7	99.78	No comment
FDX2	100.00	No comment
FGD4	99.98	No comment
CFH	100.00	No comment
FIG4	100.00	No comment
FKRP	100.00	No comment
FKTN	100.00	No comment
FLAD1	100.00	No comment
FLNC	100.00	No comment
FLRT1	100.00	No comment
FLVCR1	100.00	No comment
FOXRED1	100.00	No comment
FUS	100.00	No comment
FXN	94.27	No comment
GAA	100.00	No comment
GABRA3	99.59	No comment
GAD1	100.00	No comment
GALC	98.98	No comment
GAN	98.52	No comment
GARS1	97.89	No comment
GART	99.99	No comment
GBA1	100.00	No comment
GBA2	100.00	No comment
GBE1	100.00	No comment
GCH1	99.71	No comment
GDAP1	100.00	No comment
GFAP	100.00	No comment
GFER	99.09	No comment
GFPT1	99.94	No comment
GGPS1	100.00	No comment
GJB1	100.00	No comment
GJB3	100.00	No comment
GJC2	96.72	No comment
GLA	100.00	No comment
GLB1	100.00	No comment
GLE1	100.00	No comment
GLI3	100.00	No comment
GLTP	100.00	No comment
GMPPB	100.00	No comment
GNB4	100.00	No comment
GNE	100.00	No comment
GOLGA2	95.41	No comment
GOSR2	100.00	No comment
GSN	97.80	No comment
GYG1	94.40	No comment
GYS1	100.00	No comment
HADHA	100.00	No comment
HADHB	100.00	No comment
HARS1	99.73	No comment
HEPACAM	99.85	No comment
HEXA	100.00	No comment
HEXB	99.19	No comment
HINT1	100.00	No comment
HK1	100.00	No comment
HNRNPA1	97.19	No comment
HNRNPA2B1	100.00	No comment
HNRNPDL	99.98	No comment
HOXD10	100.00	No comment
HRAS	100.00	No comment
HSD17B4	100.00	No comment
HSPB1	100.00	No comment
HSPB3	100.00	No comment
HSPB8	100.00	No comment
HSPD1	95.18	No comment
HSPG2	99.19	No comment
IBA57	92.01	No comment
IFIH1	100.00	No comment
IFRD1	98.86	No comment
IGHMBP2	99.38	No comment
ELP1	100.00	No comment
INF2	99.92	No comment
INPP5K	99.31	No comment
ISCU	98.41	No comment
CRPPA	95.50	No comment
ITGA7	100.00	No comment
KARS1	100.00	No comment
KBTBD13	99.16	No comment
KCNA1	100.00	No comment
KCNE1	100.00	No comment
KCNE2	100.00	No comment
KCNE3	100.00	No comment
KCNH2	98.15	No comment
KCNJ12	100.00	No comment
KCNJ2	100.00	No comment
KCNQ1	100.00	No comment
WASHC5	100.00	No comment
KIF1A	98.74	No comment
KIF1B	99.84	No comment
KIF1C	100.00	No comment
KIF21A	98.54	No comment
KIF5A	100.00	No comment
KLC4	99.99	No comment
KLHL40	100.00	No comment
KLHL41	100.00	No comment
KLHL9	100.00	No comment
KY	100.00	No comment
L1CAM	99.98	No comment
LAMA2	100.00	No comment
LAMA5	98.39	No comment
LAMB2	100.00	No comment
LAMP2	99.60	No comment
LARGE1	100.00	No comment
LDB3	100.00	No comment
LDHA	99.42	No comment
LGI4	100.00	No comment
LIMS2	91.30	No comment
LITAF	100.00	No comment
LMNA	99.28	No comment
LMOD3	100.00	No comment
LPIN1	99.97	No comment
CORIN	99.01	No comment
LRPPRC	98.80	No comment
LRSAM1	99.33	No comment
MARS1	100.00	No comment
MATR3	100.00	No comment
MB	100.00	No comment
MED25	100.00	No comment
MEGF10	99.99	No comment
MFN2	100.00	No comment
MLC1	98.57	No comment
MAP3K20	100.00	No comment
MARS2	100.00	No comment
MME	100.00	No comment
MORC2	100.00	No comment
MPV17	100.00	No comment
MPZ	99.80	No comment
MSTN	100.00	No comment
MTM1	99.91	No comment
MTMR14	99.92	No comment
MTMR2	99.55	No comment
MTPAP	99.98	No comment
MUSK	100.00	No comment
MYBPC1	100.00	No comment
MYBPC3	100.00	No comment
MYH7B	99.85	No comment
MYH2	100.00	No comment
MYH3	100.00	No comment
MYH4	100.00	No comment
MYH7	100.00	No comment
MYH8	100.00	No comment
MYL1	100.00	No comment
MYO18B	99.80	No comment
MYO9A	99.74	No comment
MYOT	100.00	No comment
MYPN	99.97	No comment
NAGLU	96.69	No comment
NDRG1	100.00	No comment
NDUFA1	100.00	No comment
NDUFA10	96.45	No comment
NDUFA11	100.00	No comment
NDUFA12	100.00	No comment
NDUFA2	100.00	No comment
NDUFA3	100.00	No comment
NDUFA9	100.00	No comment
NDUFAF1	100.00	No comment
NDUFAF2	100.00	No comment
NDUFAF5	99.96	No comment
NDUFAF6	95.61	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS3	100.00	No comment
NDUFS4	99.96	No comment
NDUFS7	93.34	No comment
NDUFS8	100.00	No comment
NDUFV1	99.62	No comment
NDUFV2	100.00	No comment
NEB	100.00	No comment
NEFH	81.41	No comment
NEFL	100.00	No comment
NEK1	99.98	No comment
NGF	100.00	No comment
NIPA1	92.99	No comment
NT5C2	100.00	No comment
NTRK1	98.36	No comment
NUBPL	99.92	No comment
MED12	99.98	No comment
OPA3	100.00	No comment
OPTN	100.00	No comment
ORAI1	92.14	No comment
P4HA1	100.00	No comment
PABPN1	100.00	No comment
PANK2	100.00	No comment
PDHA1	92.64	No comment
PDK3	97.80	No comment
PDYN	100.00	No comment
PET100	100.00	No comment
PEX1	100.00	No comment
PEX7	95.60	No comment
PFKM	100.00	No comment
PFN1	100.00	No comment
PGAM2	99.97	No comment
PGAP1	100.00	No comment
PGK1	99.88	No comment
PGM1	100.00	No comment
PHKA1	99.99	No comment
PHKB	99.97	No comment
PHOX2A	96.24	No comment
PHYH	99.81	No comment
PIEZO2	100.00	No comment
PIP5K1C	94.98	No comment
PLA2G6	100.00	No comment
PLEC	99.26	No comment
PLEKHG5	100.00	No comment
PLP1	100.00	No comment
PMP2	100.00	No comment
PMP22	100.00	No comment
PNKP	99.84	No comment
PNPLA2	98.21	No comment
PNPLA6	99.95	No comment
PNPLA8	100.00	No comment
POGLUT1	100.00	No comment
POLG	100.00	No comment
POLG2	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
POMGNT1	100.00	No comment
POMGNT2	100.00	No comment
POMK	100.00	No comment
POMT1	100.00	No comment
POMT2	99.53	No comment
PPP2R2B	100.00	No comment
PRDM12	81.28	No comment
PREPL	99.98	No comment
PRKAG2	95.75	No comment
PRNP	99.92	No comment
PRPH	99.62	No comment
PRPS1	99.91	No comment
PRUNE1	100.00	No comment
PRX	99.89	No comment
PSEN1	100.00	No comment
HACD1	94.60	No comment
CAVIN1	100.00	No comment
PTRH2	99.91	No comment
PUS1	100.00	No comment
PYGM	100.00	No comment
PYROXD1	99.99	No comment
RAB3GAP2	100.00	No comment
RAB7A	100.00	No comment
RAPSN	100.00	No comment
RBCK1	99.76	No comment
RBM7	100.00	No comment
REEP1	100.00	No comment
REEP2	97.04	No comment
RNASEH2B	94.58	No comment
RNASET2	100.00	No comment
RRM2B	100.00	No comment
RTN2	99.44	No comment
RYR1	99.39	No comment
RYR3	100.00	No comment
SACS	99.95	No comment
SBF1	98.38	No comment
SBF2	99.92	No comment
SCN10A	100.00	No comment
SCN11A	99.98	No comment
SCN4A	100.00	No comment
SCN5A	100.00	No comment
SCN9A	99.99	No comment
SCO1	100.00	No comment
SCO2	93.85	No comment
SELENON	84.10	No comment
SEPTIN9	99.38	No comment
SETX	100.00	No comment
SGCA	100.00	No comment
SGCB	91.50	No comment
SGCD	100.00	No comment
SGCE	93.30	No comment
SGCG	100.00	No comment
SGPL1	100.00	No comment
SH3TC2	100.00	No comment
SIGMAR1	92.51	No comment
SIL1	99.95	No comment
SLC12A6	100.00	No comment
SLC16A1	100.00	No comment
SLC16A2	99.97	No comment
SLC18A3	100.00	No comment
SLC22A5	100.00	No comment
SLC25A15	100.00	No comment
SLC25A20	100.00	No comment
SLC25A4	99.81	No comment
SLC25A42	99.60	No comment
SLC25A46	100.00	No comment
SLC2A1	100.00	No comment
SLC33A1	100.00	No comment
SLC52A2	100.00	No comment
SLC52A3	99.86	No comment
SLC5A7	100.00	No comment
SMCHD1	100.00	No comment
SMN1	100.00	No comment
SNAP25	100.00	No comment
SOD1	100.00	No comment
SOX10	95.36	No comment
SPAST	99.83	No comment
SPEG	98.78	No comment
SPG11	100.00	No comment
SPART	100.00	No comment
SPG21	100.00	No comment
SPG7	95.78	No comment
SPR	99.98	No comment
SPTBN4	98.07	No comment
SPTLC1	99.27	No comment
SPTLC2	96.43	No comment
SQSTM1	94.05	No comment
SRPK3	98.13	No comment
STAC3	100.00	No comment
STIM1	100.00	No comment
SUCLA2	99.86	No comment
SUCLG1	93.27	No comment
SUN1	100.00	No comment
SURF1	100.00	No comment
SYNE1	100.00	No comment
SYNE2	100.00	No comment
SYT2	99.96	No comment
TACO1	99.66	No comment
TANGO2	99.94	No comment
TARDBP	100.00	No comment
TARS2	100.00	No comment
WWTR1	97.30	No comment
TBCE	100.00	No comment
TBK1	99.99	No comment
TCAP	100.00	No comment
TDP1	100.00	No comment
TECPR2	99.92	No comment
TFG	99.98	No comment
TGM6	100.00	No comment
TH	98.79	No comment
TIA1	100.00	No comment
TK2	100.00	No comment
TMEM43	100.00	No comment
RXYLT1	100.00	No comment
TMEM65	90.50	No comment
MYMK	100.00	No comment
TNNI2	100.00	No comment
TNNT1	94.05	No comment
TNNT3	100.00	No comment
TNPO3	100.00	No comment
TOR1A	99.70	No comment
TOR1AIP1	100.00	No comment
TPI1	99.90	No comment
TPM2	100.00	No comment
TPM3	98.74	No comment
TRAPPC11	99.97	No comment
TRIM2	100.00	No comment
TRIM32	100.00	No comment
TRIM54	96.63	No comment
TRIM63	100.00	No comment
TRIP4	100.00	No comment
TRMT5	100.00	No comment
TRPV4	100.00	No comment
TSFM	86.80	No comment
TTBK2	100.00	No comment
TTN	100.00	No comment
TTR	100.00	No comment
TUBA4A	100.00	No comment
TUBB3	99.01	No comment
TUBB4A	100.00	No comment
TYMP	100.00	No comment
UBA1	100.00	No comment
UBQLN2	99.30	No comment
UNC13A	99.74	No comment
USP8	100.00	No comment
VAMP1	100.00	No comment
VAPB	99.77	No comment
VARS2	100.00	No comment
VCP	97.10	No comment
VMA21	77.99	No comment
VPS33B	100.00	No comment
VPS37A	99.28	No comment
VRK1	100.00	No comment
WARS1	100.00	No comment
WDR45	100.00	No comment
WDR48	100.00	No comment
WNK1	100.00	No comment
XK	99.44	No comment
YARS1	100.00	No comment
YARS2	100.00	No comment
ZC4H2	100.00	No comment
ZFHX2	100.00	No comment
ZFR	100.00	No comment
ZFYVE26	100.00	No comment
ZFYVE27	100.00	No comment

Neuromuscular disorders (232 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
NEB	88.70	NM_001271208.1
SELENON	92.30	NM_020451.2
TSEN54	97.70	NM_207346.2
DOK7	97.90	NM_173660.4
ORAI1	97.90	NM_032790.3
CRPPA	98.60	NM_001101426.3
PGAM2	98.80	NM_000290.3
AGRN	99.00	NM_198576.3
HSPB1	99.00	NM_001540.4
POMT2	99.00	NM_013382.5
CACNA1H	99.10	NM_021098.2
RYR1	99.10	NM_000540.2
SPTBN4	99.30	NM_020971.2
TNNT1	99.50	NM_003283.5
HSPG2	99.50	NM_005529.6
CAPN3	99.60	NM_000070.2
GMPPB	99.60	NM_013334.3
ACADVL	99.60	NM_000018.3
LAMA5	99.60	NM_005560.4
B3GALNT2	99.70	NM_152490.4
SCN4A	99.70	NM_000334.4
ISCU	99.70	NM_213595.3
MATR3	99.70	NM_199189.2
SLC16A1	99.80	NM_003051.3
COL6A1	99.80	NM_001848.2
CHD8	99.80	NM_001170629.1
RAPSN	99.80	NM_005055.4
CACNA1A	99.80	NM_001127221.1
MYH7B	99.80	NM_024729.3
DCST2	99.80	NM_144622.2
CHRNE	99.80	NM_000080.3
SGCG	99.90	NM_000231.2
DYSF	99.90	NM_003494.3
MYL2	99.90	NM_000432.3
CHRNA1	99.90	NM_000079.3
ECEL1	99.90	NM_004826.3
PNPLA2	99.90	NM_020376.3
FXR1	99.90	NM_005087.3
TTN	99.90	NM_133378.4
PNPLA8	99.90	NM_015723.4
ATP2A1	99.90	NM_173201.3
COL6A2	99.90	NM_001849.3
MYBPC3	99.90	NM_000256.3
VCP	99.90	NM_007126.4
TRDN	99.90	NM_006073.3
GYS1	99.90	NM_002103.4
ALG13	99.90	NM_001099922.2
MYO18B	99.90	NM_032608.6
TK2	99.90	NM_004614.4
PHKB	99.90	NM_000293.2
SYT2	99.90	NM_177402.4
LDHA	99.90	NM_005566.3
LMNA	99.90	NM_170707.3
CFL2	99.90	NM_021914.7
TIA1	100.00	NM_022173.3
MYF6	100.00	NM_002469.2
KCNJ18	100.00	NM_001194958.2
DPM1	100.00	NM_003859.2
HNRNPDL	100.00	NM_031372.3
TPM2	100.00	NM_003289.3
CACNA1S	100.00	NM_000069.2
FLNC	100.00	NM_001458.4
CHRNB1	100.00	NM_000747.2
CCDC78	100.00	NM_001031737.2
ETFA	100.00	NM_000126.3
DNAJB6	100.00	NM_058246.3
DMPK	100.00	NM_001081563.2
CORIN	100.00	NM_002334.3
HACD1	100.00	NM_014241.3
EMD	100.00	NM_000117.2
TRIP4	100.00	NM_016213.4
MYL1	100.00	NM_079420.2
ETFDH	100.00	NM_004453.3
FKRP	100.00	NM_024301.4
DNA2	100.00	NM_001080449.2
PLEC	100.00	NM_000445.4
PABPN1	100.00	NM_004643.3
SPEG	100.00	NM_005876.4
ITGA7	100.00	NM_002206.2
POMT1	100.00	NM_007171.3
GFPT1	100.00	NM_002056.3
SYNE1	100.00	NM_033071.3
LPIN1	100.00	NM_145693.3
ENO3	100.00	NM_053013.3
GOLGA2	100.00	NM_004486.4
CHKB	100.00	NM_005198.4
AMPD1	100.00	NM_000036.2
ACTA1	100.00	NM_001100.3
ACVR1	100.00	NM_001105.4
HADHB	100.00	NM_000183.2
KCNA1	100.00	NM_000217.2
ANO5	100.00	NM_213599.2
INPP5K	100.00	NM_016532.3
SMCHD1	100.00	NM_015295.2
ADSS1	100.00	NM_199165.2
TRIM63	100.00	NM_032588.3
COL13A1	100.00	NM_001130103.1
TOP3A	100.00	NM_004618.4
COL12A1	100.00	NM_004370.5
MYPN	100.00	NM_032578.3
SYNE2	100.00	NM_182914.2
ACTN2	100.00	NM_001103.3
PREPL	100.00	NM_006036.4
MYH3	100.00	NM_002470.3
SGCB	100.00	NM_000232.4
PHKA1	100.00	NM_002637.3
CLCN1	100.00	NM_000083.2
KBTBD13	100.00	NM_001101362.2
CHAT	100.00	NM_020549.4
AGL	100.00	NM_000642.2
MUSK	100.00	NM_005592.3
CASQ1	100.00	NM_001231.4
ACADS	100.00	NM_000017.3
PYGM	100.00	NM_005609.3
GAA	100.00	NM_000152.4
TRAPPC11	100.00	NM_021942.5
MYO9A	100.00	NM_006901.3
COL6A3	100.00	NM_004369.3
DMD	100.00	NM_004006.2
MYH7	100.00	NM_000257.3
MYBPC1	100.00	NM_002465.3
RYR3	100.00	NM_001036.4
ABHD5	100.00	NM_016006.5
ACAD9	100.00	NM_014049.4
ACADL	100.00	NM_001608.3
ACADM	100.00	NM_000016.5
ALDOA	100.00	NM_000034.3
ALG14	100.00	NM_144988.3
ALG2	100.00	NM_033087.3
ATP1A2	100.00	NM_000702.3
B4GAT1	100.00	NM_006876.2
BAG3	100.00	NM_004281.3
BIN1	100.00	NM_139343.2
BVES	100.00	NM_007073.4
CAV3	100.00	NM_033337.2
CAVIN1	100.00	NM_012232.5
CHRND	100.00	NM_000751.2
CHRNG	100.00	NM_005199.4
CNTN1	100.00	NM_001843.3
COLQ	100.00	NM_005677.3
CPT2	100.00	NM_000098.2
CRYAB	100.00	NM_001885.2
DAG1	100.00	NM_004393.5
DES	100.00	NM_001927.3
DNM2	100.00	NM_001005360.2
DOLK	100.00	NM_014908.3
DPAGT1	100.00	NM_001382.3
DPM2	100.00	NM_003863.3
DPM3	100.00	NM_153741.1
ETFB	100.00	NM_001985.2
EXOSC3	100.00	NM_016042.3
CFH	100.00	NM_001449.4
FKBP14	100.00	NM_017946.3
FKTN	100.00	NM_001079802.1
FLAD1	100.00	NM_025207.4
GBE1	100.00	NM_000158.3
GGPS1	100.00	NM_001037277.1
GNE	100.00	NM_001128227.2
GYG1	100.00	NM_004130.3
HADH	100.00	NM_005327.4
HADHA	100.00	NM_000182.4
HINT1	100.00	NM_005340.6
HNRNPA1	100.00	NM_031157.3
HNRNPA2B1	100.00	NM_031243.2
HRAS	100.00	NM_005343.3
HSPB8	100.00	NM_014365.2
KCNE3	100.00	NM_005472.4
KCNJ2	100.00	NM_000891.2
KLHL40	100.00	NM_152393.3
KLHL41	100.00	NM_006063.2
KLHL9	100.00	NM_018847.3
KY	100.00	NM_178554.5
LAMA2	100.00	NM_000426.3
LAMB2	100.00	NM_002292.3
LAMP2	100.00	NM_002294.2
LARGE1	100.00	NM_004737.6
LDB3	100.00	NM_001080116.1
LIMS2	100.00	NM_001136037.2
LMOD3	100.00	NM_198271.4
MAP3K20	100.00	NM_016653.2
MB	100.00	NM_005368.2
MEGF10	100.00	NM_032446.2
MSTN	100.00	NM_005259.2
MTM1	100.00	NM_000252.2
MTMR14	100.00	NM_022485.4
MYH2	100.00	NM_017534.5
MYH8	100.00	NM_002472.2
MYMK	100.00	NM_001080483.2
MYOT	100.00	NM_006790.2
MED12	100.00	NM_015560.2
P4HA1	100.00	NM_001017962.2
PAX7	100.00	NM_002584.2
PDHA1	100.00	NM_000284.3
PFKM	100.00	NM_000289.5
PGK1	100.00	NM_000291.3
PGM1	100.00	NM_002633.2
POGLUT1	100.00	NM_152305.2
POLG	100.00	NM_002693.2
POLG2	100.00	NM_007215.3
POMGNT1	100.00	NM_017739.3
POMGNT2	100.00	NM_032806.5
POMK	100.00	NM_032237.4
POPDC3	100.00	NM_022361.4
PRKAG2	100.00	NM_016203.3
PYROXD1	100.00	NM_024854.4
RBCK1	100.00	NM_031229.3
RXYLT1	100.00	NM_014254.2
SBDS	100.00	NM_016038.3
SGCA	100.00	NM_000023.3
SGCD	100.00	NM_000337.5
SIL1	100.00	NM_022464.4
SLC18A3	100.00	NM_003055.2
SLC22A5	100.00	NM_003060.3
SLC25A20	100.00	NM_000387.5
SLC5A7	100.00	NM_021815.4
SNAP25	100.00	NM_130811.3
SQSTM1	100.00	NM_003900.4
STAC3	100.00	NM_145064.2
STIM1	100.00	NM_003156.3
WWTR1	100.00	NM_000116.4
TCAP	100.00	NM_003673.3
TMEM126B	100.00	NM_018480.5
TMEM43	100.00	NM_024334.2
TNNI2	100.00	NM_003282.3
TNNT3	100.00	NM_006757.3
TNPO3	100.00	NM_012470.3
TOR1AIP1	100.00	NM_001267578.1
TPM3	100.00	NM_152263.3
TRIM32	100.00	NM_012210.3
UNC45B	100.00	NM_173167.3
VAMP1	100.00	NM_014231.4
VMA21	100.00	NM_001017980.3

Neuromuscular disorders - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABHD5	99.98	1
ACAD9	100.00	1
ACADL	99.11	1
ACADM	96.14	1
ACADS	99.99	1
ACADVL	100.00	1
ACTA1	99.99	1
ACTN2	99.99	1
ACVR1	99.94	1
ADCY6	99.98	1
ADGRG6	99.91	1
ADSS1	99.99	1
AGL	97.67	1
AGRN	99.99	1
ALDOA	100.00	1
ALG13	99.44	1
ALG14	99.34	1
ALG2	100.00	1
AMPD1	98.94	1
ANO5	99.85	1
APOO	99.69	1
ASAH1	99.90	1
ASCC1	90.99	1
ASPH	99.92	1
ATP2A1	99.83	1
B3GALNT2	92.79	1
B4GAT1	100.00	1
BAG3	100.00	1
BET1	99.38	1
BIN1	99.98	1
BSCL2	99.99	1
BVES	99.83	1
CACNA1H	100.00	1
CACNA1S	99.96	1
CAPN3	99.99	1
CASQ1	99.62	1
CAV3	100.00	1
CAVIN1	100.00	1
CCDC78	100.00	1
CFL2	99.67	1
CHAT	99.74	1
CHCHD10	100.00	1
CHKB	100.00	1
CHRNA1	99.82	1
CHRNB1	99.99	1
CHRND	100.00	1
CHRNE	100.00	1
CHRNG	100.00	1
CLCN1	100.00	1
CLN3	99.92	1
CLPP	99.99	1
CNTN1	99.35	1
COL12A1	99.85	1
COL13A1	99.95	1
COL4A1	99.99	1
COL6A1	99.99	1
COL6A2	100.00	1
COL6A3	99.99	1
COL9A3	99.99	1
COLQ	99.98	1
CPT2	99.65	1
CRPPA	99.98	1
CRYAB	100.00	1
DAG1	100.00	1
DES	100.00	1
DGUOK	99.93	1
DHX16	99.98	1
DMD	99.76	1
DMPK	99.93	1
DNAJB6	99.97	1
DNM2	99.99	1
DNMT3B	99.98	1
DOK7	99.97	1
DOLK	100.00	1
DPAGT1	100.00	1
DPM1	90.68	1
DPM2	100.00	1
DPM3	99.98	1
DYSF	99.95	1
ECEL1	100.00	1
EMD	99.93	1
ENO3	100.00	1
EPG5	99.95	1
ETFA	99.88	1
ETFB	100.00	1
ETFDH	99.82	1
FAM111B	99.98	1
FDX2	99.99	1
CFH	99.97	1
FKBP14	99.97	1
FKRP	100.00	1
FKTN	99.94	1
FLAD1	99.98	1
FLNC	99.99	1
FXR1	99.82	1
GAA	100.00	1
GBE1	99.73	1
GFER	100.00	1
GFPT1	99.79	1
GGPS1	99.95	1
GLDN	99.98	1
GLE1	99.99	1
GMPPB	100.00	1
GNE	99.99	1
GOLGA2	100.00	1
GOSR2	98.92	1
GYG1	99.85	1
GYS1	99.98	1
HACD1	99.98	1
HADHA	99.98	1
HADHB	99.82	1
HEXB	99.91	1
HNRNPA1	62.92	1
HNRNPA2B1	99.90	1
HNRNPDL	99.98	1
HRAS	100.00	1
HSPB1	99.97	1
HSPB3	99.97	1
HSPB8	100.00	1
HSPG2	99.87	1
HTRA2	99.99	1
INPP5K	99.94	1
ISCU	99.74	1
ITGA7	99.87	1
KBTBD13	100.00	1
KLHL40	99.96	1
KLHL41	99.96	1
KLHL9	100.00	1
KY	99.97	1
LAMA2	99.95	1
LAMA5	99.99	1
LAMB2	99.99	1
LAMP2	98.95	1
LARGE1	100.00	1
LARS2	99.96	1
LAS1L	99.97	1
LDB3	99.91	1
LDHA	99.94	1
LGI4	99.98	1
LIMS2	99.97	1
LMNA	99.96	1
LMOD3	99.91	1
LOXL4	99.92	1
LPIN1	99.96	1
LRIF1	99.82	1
CORIN	99.89	1
MAP3K20	99.84	1
MB	99.99	1
MCOLN1	100.00	1
MEGF10	99.91	1
MET	99.97	1
MICU1	99.56	1
MPDU1	99.97	1
MRPS25	99.97	1
MSTN	99.96	1
MSTO1	76.34	1
MTM1	99.76	1
MTMR14	99.99	1
MUSK	99.93	1
MYBPC1	99.77	1
MYBPC3	99.98	1
MYF5	99.99	1
MYH7B	99.98	1
MYH2	99.98	1
MYH3	99.99	1
MYH7	99.99	1
MYH8	100.00	1
MYL1	99.75	1
MYL2	99.99	1
MYMK	99.88	1
MYO18B	99.98	1
MYO9A	99.93	1
MYOT	99.93	1
MYPN	99.88	1
NEB	87.33	1
NEFL	100.00	1
ORAI1	99.63	1
PABPN1	99.99	1
PAX7	99.83	1
PEX6	99.99	1
PFKM	99.57	1
PGAM2	100.00	1
PGK1	99.93	1
PGM1	96.77	1
PHKA1	99.84	1
PHKB	99.69	1
PIEZO2	98.45	1
PLEC	100.00	1
PNPLA2	100.00	1
PNPLA8	99.92	1
POGLUT1	99.99	1
POLG	100.00	1
POLG2	99.51	1
POMGNT1	99.69	1
POMGNT2	100.00	1
POMK	100.00	1
POMT1	99.96	1
POMT2	99.98	1
POPDC3	99.96	1
PREPL	99.63	1
PRKAG2	99.96	1
PTRH2	99.99	1
PUS1	100.00	1
PYGM	99.96	1
PYROXD1	99.77	1
RAPSN	99.97	1
RBCK1	100.00	1
RRM2B	99.97	1
RXYLT1	99.48	1
RYR1	99.97	1
RYR3	99.98	1
SCN4A	99.98	1
SELENON	93.61	1
SGCA	100.00	1
SGCB	99.95	1
SGCD	100.00	1
SGCG	99.99	1
SIL1	99.95	1
SLC16A1	99.26	1
SLC18A3	99.99	1
SLC22A5	99.99	1
SLC25A1	99.93	1
SLC25A20	100.00	1
SLC25A4	100.00	1
SLC25A42	99.99	1
SLC5A7	99.57	1
SMCHD1	99.83	1
SMPX	99.80	1
SNAP25	99.89	1
SPEG	99.99	1
SPTBN4	99.91	1
SQSTM1	100.00	1
STAC3	99.91	1
STIM1	99.99	1
SUCLA2	99.96	1
SVIL	99.98	1
SYNE1	99.95	1
SYNE2	99.95	1
SYT2	99.93	1
TARDBP	100.00	1
TCAP	100.00	1
TFAM	99.24	1
TIA1	99.72	1
TIMM22	100.00	1
TK2	99.96	1
TMEM43	99.96	1
TMEM65	99.93	1
TNNC2	99.99	1
TNNI2	99.99	1
TNNT1	99.82	1
TNNT3	100.00	1
TNPO3	99.96	1
TNXB	90.86	1
TOR1AIP1	98.45	1
TPM2	100.00	1
TPM3	83.21	1
TRAPPC11	99.93	1
TRIM32	100.00	1
TRIM54	89.88	1
TRIP4	99.97	1
TSEN54	100.00	1
TSFM	100.00	1
TTN	99.15	1
TYMP	99.87	1
UNC45B	100.00	1
VAMP1	100.00	1
VCP	99.99	1
VMA21	99.90	1
VPS33B	99.95	1
YARS2	99.93	1
ZBTB42	100.00	1
ZC4H2	99.98	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