UBA1 | Belgian Genetic Tests database

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Name:	ubiquitin like modifier activating enzyme 1
Symbol:	UBA1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CFAP124 POC20 POC20 centriolar protein homolog (Chlamydomonas) UBA1, ubiquitin-activating enzyme E1 homolog (yeast) UBE1X
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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Congenital malformation (1721 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AAAS	0.00	0	,
AARS1	0.00	0	,
AASS	0.00	0	,
ABAT	0.00	0	,
ABCA12	0.00	0	,
ABCC6	0.00	0	,
ABCC9	0.00	0	,
ABCD1	0.00	0	,
ABCD3	0.00	0	,
ABCD4	0.00	0	,
ABHD5	0.00	0	,
ABL1	0.00	0	,
ACAD9	0.00	0	,
ACADVL	0.00	0	,
ACAN	0.00	0	,
ACE	0.00	0	,
ACO2	0.00	0	,
ACOX1	0.00	0	,
ACP5	0.00	0	,
ACSL4	0.00	0	,
ACTA1	0.00	0	,
ACTA2	0.00	0	,
ACTB	0.00	0	,
ACTC1	0.00	0	,
ACTG1	0.00	0	,
ACTG2	0.00	0	,
ACVR1	0.00	0	,
ACVR2B	0.00	0	,
ACY1	0.00	0	,
ADAMTS10	0.00	0	,
ADAMTS17	0.00	0	,
ADAMTS3	0.00	0	,
ADAMTSL2	0.00	0	,
ADAR	0.00	0	,
ADGRG1	0.00	0	,
ADGRG6	0.00	0	,
ADNP	0.00	0	,
ADSL	0.00	0	,
AFF3	0.00	0	,
AFF4	0.00	0	,
AGK	0.00	0	,
AGL	0.00	0	,
AGPS	0.00	0	,
AHCY	0.00	0	,
AHDC1	0.00	0	,
AHI1	0.00	0	,
AIFM1	0.00	0	,
AIMP1	0.00	0	,
AIPL1	0.00	0	,
AIRE	0.00	0	,
AKR1C2	0.00	0	,
AKT1	0.00	0	,
AKT2	0.00	0	,
AKT3	0.00	0	,
ALDH18A1	0.00	0	,
ALDH1A3	0.00	0	,
ALDH3A2	0.00	0	,
ALDH7A1	0.00	0	,
ALDOA	0.00	0	,
ALG1	0.00	0	,
ALG11	0.00	0	,
ALG12	0.00	0	,
ALG13	0.00	0	,
ALG2	0.00	0	,
ALG3	0.00	0	,
ALG6	0.00	0	,
ALG8	0.00	0	,
ALG9	0.00	0	,
ALMS1	0.00	0	,
ALOX12B	0.00	0	,
ALOXE3	0.00	0	,
ALPL	0.00	0	,
ALX1	0.00	0	,
ALX3	0.00	0	,
ALX4	0.00	0	,
AMACR	0.00	0	,
AMBRA1	0.00	0	,
AMER1	0.00	0	,
AMMECR1	0.00	0	,
AMPD2	0.00	0	,
AMT	0.00	0	,
ANAPC1	0.00	0	,
ANKH	0.00	0	,
ANKRD11	0.00	0	,
ANKRD26	0.00	0	,
ANKS6	0.00	0	,
ANOS1	0.00	0	,
ANTXR1	0.00	0	,
ANTXR2	0.00	0	,
AP1S2	0.00	0	,
AP3B2	0.00	0	,
AP4B1	0.00	0	,
AP4E1	0.00	0	,
AP4M1	0.00	0	,
AP4S1	0.00	0	,
AR	0.00	0	,
ARCN1	0.00	0	,
ARFGEF2	0.00	0	,
ARHGAP29	0.00	0	,
ARHGAP31	0.00	0	,
ARID1A	0.00	0	,
ARID1B	0.00	0	,
ARID2	0.00	0	,
ARL13B	0.00	0	,
ARL3	0.00	0	,
ARL6	0.00	0	,
ODAD2	0.00	0	,
ARMC9	0.00	0	,
ARSA	0.00	0	,
SLURP1	0.00	0	,
ARSL	0.00	0	,
ARVCF	0.00	0	,
ARX	0.00	0	,
ASAH1	0.00	0	,
ASCC1	0.00	0	,
ASNS	0.00	0	,
ASPA	0.00	0	,
ASPH	0.00	0	,
ASPM	0.00	0	,
ASS1	0.00	0	,
ASXL1	0.00	0	,
ASXL2	0.00	0	,
ASXL3	0.00	0	,
ATAD3A	0.00	0	,
ATIC	0.00	0	,
ATL1	0.00	0	,
ATM	0.00	0	,
ATP1A2	0.00	0	,
ATP6V0A2	0.00	0	,
ATP6V1B2	0.00	0	,
ATP7A	0.00	0	,
ATP8A2	0.00	0	,
ATRX	0.00	0	,
ATXN10	0.00	0	,
AVIL	0.00	0	,
B3GALNT2	0.00	0	,
B3GALT6	0.00	0	,
B3GAT3	0.00	0	,
B3GLCT	0.00	0	,
B4GALT1	0.00	0	,
B4GALT7	0.00	0	,
B4GAT1	0.00	0	,
B9D1	0.00	0	,
B9D2	0.00	0	,
BANF1	0.00	0	,
BBIP1	0.00	0	,
BBS1	0.00	0	,
BBS10	0.00	0	,
BBS12	0.00	0	,
BBS2	0.00	0	,
BBS4	0.00	0	,
BBS5	0.00	0	,
BBS7	0.00	0	,
BBS9	0.00	0	,
BCAP31	0.00	0	,
BCL11A	0.00	0	,
BCL9L	0.00	0	,
BCOR	0.00	0	,
BCS1L	0.00	0	,
BDNF	0.00	0	,
BFSP2	0.00	0	,
BGN	0.00	0	,
BHLHA9	0.00	0	,
BICC1	0.00	0	,
BICD2	0.00	0	,
BIN1	0.00	0	,
BLM	0.00	0	,
BLOC1S6	0.00	0	,
BMP1	0.00	0	,
BMP2	0.00	0	,
BMP4	0.00	0	,
BMPER	0.00	0	,
BMPR1B	0.00	0	,
BNC2	0.00	0	,
BOLA3	0.00	0	,
BPTF	0.00	0	,
BRAF	0.00	0	,
BRAT1	0.00	0	,
BRCA2	0.00	0	,
BRIP1	0.00	0	,
BRPF1	0.00	0	,
BSND	0.00	0	,
BTD	0.00	0	,
BUB1	0.00	0	,
BUB1B	0.00	0	,
BUB3	0.00	0	,
C12ORF57	0.00	0	,
MTRFR	0.00	0	,
C1QBP	0.00	0	,
MFRP	0.00	0	,
C2CD3	0.00	0	,
C4BPA	0.00	0	,
C4BPB	0.00	0	,
CFAP418	0.00	0	,
CA2	0.00	0	,
CA5A	0.00	0	,
CA8	0.00	0	,
CACNA1A	0.00	0	,
CACNA1C	0.00	0	,
CACNA1D	0.00	0	,
CACNA1E	0.00	0	,
CACNA1G	0.00	0	,
CAMK2A	0.00	0	,
CAMK2B	0.00	0	,
CAMTA1	0.00	0	,
CANT1	0.00	0	,
CARS2	0.00	0	,
CASK	0.00	0	,
CASR	0.00	0	,
CBL	0.00	0	,
CC2D2A	0.00	0	,
CCBE1	0.00	0	,
CCDC103	0.00	0	,
ODAD1	0.00	0	,
ODAD3	0.00	0	,
CCDC22	0.00	0	,
CCDC28B	0.00	0	,
CCDC39	0.00	0	,
CCDC40	0.00	0	,
CCDC78	0.00	0	,
CCDC8	0.00	0	,
CCDC88C	0.00	0	,
CCM2	0.00	0	,
CCND2	0.00	0	,
CCNQ	0.00	0	,
CD151	0.00	0	,
CD55	0.00	0	,
CD96	0.00	0	,
CDAN1	0.00	0	,
CDC45	0.00	0	,
CDC6	0.00	0	,
CDC73	0.00	0	,
CDH1	0.00	0	,
CDH11	0.00	0	,
CDH3	0.00	0	,
CDK13	0.00	0	,
CDK5RAP2	0.00	0	,
CDK8	0.00	0	,
CDKL5	0.00	0	,
CDKN1C	0.00	0	,
CDON	0.00	0	,
CDT1	0.00	0	,
CELSR1	0.00	0	,
CENPF	0.00	0	,
CENPJ	0.00	0	,
CEP104	0.00	0	,
CEP120	0.00	0	,
CEP135	0.00	0	,
CEP152	0.00	0	,
CEP164	0.00	0	,
CEP290	0.00	0	,
CEP41	0.00	0	,
CEP55	0.00	0	,
CEP57	0.00	0	,
CEP63	0.00	0	,
CEP83	0.00	0	,
CERS3	0.00	0	,
CERT1	0.00	0	,
CFAP298	0.00	0	,
CFAP300	0.00	0	,
CFAP410	0.00	0	,
CFAP53	0.00	0	,
CFC1	0.00	0	,
CFHR2	0.00	0	,
CFL2	0.00	0	,
CFTR	0.00	0	,
CHAMP1	0.00	0	,
CHAT	0.00	0	,
CHD3	0.00	0	,
CHD4	0.00	0	,
CHD7	0.00	0	,
CHD8	0.00	0	,
CHKB	0.00	0	,
CHMP1A	0.00	0	,
CHN1	0.00	0	,
CHRNA1	0.00	0	,
CHRNA3	0.00	0	,
CHRNB1	0.00	0	,
CHRNB2	0.00	0	,
CHRND	0.00	0	,
CHRNE	0.00	0	,
CHRNG	0.00	0	,
CHST11	0.00	0	,
CHST14	0.00	0	,
CHST3	0.00	0	,
CHSY1	0.00	0	,
CHUK	0.00	0	,
CILK1	0.00	0	,
CIT	0.00	0	,
CKAP2L	0.00	0	,
CLCN7	0.00	0	,
CLCNKB	0.00	0	,
CLDN10	0.00	0	,
CLMP	0.00	0	,
CLP1	0.00	0	,
CLPB	0.00	0	,
CLPP	0.00	0	,
CLTC	0.00	0	,
CNKSR2	0.00	0	,
CNOT1	0.00	0	,
CNOT3	0.00	0	,
CNTN1	0.00	0	,
CNTNAP1	0.00	0	,
CNTNAP2	0.00	0	,
COASY	0.00	0	,
COG1	0.00	0	,
COG4	0.00	0	,
COG5	0.00	0	,
COG6	0.00	0	,
COG7	0.00	0	,
COG8	0.00	0	,
COL10A1	0.00	0	,
COL11A1	0.00	0	,
COL11A2	0.00	0	,
COL12A1	0.00	0	,
COL13A1	0.00	0	,
COL18A1	0.00	0	,
COL1A1	0.00	0	,
COL1A2	0.00	0	,
COL25A1	0.00	0	,
COL2A1	0.00	0	,
COL3A1	0.00	0	,
COL4A1	0.00	0	,
COL4A2	0.00	0	,
COL5A1	0.00	0	,
COL5A2	0.00	0	,
COL6A1	0.00	0	,
COL6A2	0.00	0	,
COL6A3	0.00	0	,
COL7A1	0.00	0	,
COL9A1	0.00	0	,
COL9A2	0.00	0	,
COLEC10	0.00	0	,
COLEC11	0.00	0	,
COLQ	0.00	0	,
COMT	0.00	0	,
COQ4	0.00	0	,
COQ7	0.00	0	,
COQ9	0.00	0	,
COX7B	0.00	0	,
CPAMD8	0.00	0	,
CPLANE1	0.00	0	,
CPT2	0.00	0	,
CRADD	0.00	0	,
CRB1	0.00	0	,
CRB2	0.00	0	,
CREB3L1	0.00	0	,
CREBBP	0.00	0	,
CRELD1	0.00	0	,
CRH	0.00	0	,
CRIPT	0.00	0	,
CRLF1	0.00	0	,
CRPPA	0.00	0	,
CRTAP	0.00	0	,
CRX	0.00	0	,
CRYAA	0.00	0	,
CRYBA1	0.00	0	,
CRYBA4	0.00	0	,
CRYBB1	0.00	0	,
CRYBB2	0.00	0	,
CRYBB3	0.00	0	,
CRYGC	0.00	0	,
CRYGD	0.00	0	,
CSF1R	0.00	0	,
CSNK2A1	0.00	0	,
CSPP1	0.00	0	,
CSTA	0.00	0	,
CTC1	0.00	0	,
CTCF	0.00	0	,
CTDP1	0.00	0	,
CTNNB1	0.00	0	,
CTNND1	0.00	0	,
CTNS	0.00	0	,
CTSA	0.00	0	,
CTSD	0.00	0	,
CTSK	0.00	0	,
CTU2	0.00	0	,
CUL4B	0.00	0	,
CUL7	0.00	0	,
CUX2	0.00	0	,
CWC27	0.00	0	,
CXCR4	0.00	0	,
CYB5R3	0.00	0	,
CYP11A1	0.00	0	,
CYP11B1	0.00	0	,
CYP17A1	0.00	0	,
CYP19A1	0.00	0	,
CYP1B1	0.00	0	,
CYP21A2	0.00	0	,
CYP26B1	0.00	0	,
CYP2U1	0.00	0	,
CYP4F22	0.00	0	,
DACH1	0.00	0	,
DAG1	0.00	0	,
DARS1	0.00	0	,
DCC	0.00	0	,
DCDC2	0.00	0	,
DCHS1	0.00	0	,
DCX	0.00	0	,
DDHD2	0.00	0	,
DDR2	0.00	0	,
DDX11	0.00	0	,
DDX3X	0.00	0	,
DDX59	0.00	0	,
DDX6	0.00	0	,
DENND5A	0.00	0	,
DHCR24	0.00	0	,
DHCR7	0.00	0	,
DHDDS	0.00	0	,
DHFR	0.00	0	,
DHH	0.00	0	,
DHODH	0.00	0	,
DHTKD1	0.00	0	,
DHX30	0.00	0	,
DIAPH1	0.00	0	,
DIS3L2	0.00	0	,
DISP1	0.00	0	,
DKC1	0.00	0	,
DLG4	0.00	0	,
DLL3	0.00	0	,
DLL4	0.00	0	,
DLX5	0.00	0	,
DMD	0.00	0	,
DMPK	0.00	0	,
DNAAF1	0.00	0	,
DNAAF2	0.00	0	,
DNAAF3	0.00	0	,
DNAAF4	0.00	0	,
DNAAF5	0.00	0	,
DNAH11	0.00	0	,
DNAH5	0.00	0	,
DNAH9	0.00	0	,
DNAI1	0.00	0	,
DNAI2	0.00	0	,
DNAJB11	0.00	0	,
DNAJC12	0.00	0	,
DNAJC19	0.00	0	,
DNM1	0.00	0	,
DNM1L	0.00	0	,
DNM2	0.00	0	,
DNMT3A	0.00	0	,
DNMT3B	0.00	0	,
DOCK6	0.00	0	,
DOCK7	0.00	0	,
DOK7	0.00	0	,
DOLK	0.00	0	,
DONSON	0.00	0	,
DPAGT1	0.00	0	,
DPF2	0.00	0	,
DPH1	0.00	0	,
DPM1	0.00	0	,
DPM2	0.00	0	,
DPM3	0.00	0	,
DPYD	0.00	0	,
DRC1	0.00	0	,
DSG1	0.00	0	,
DSP	0.00	0	,
DSTYK	0.00	0	,
DUSP6	0.00	0	,
DVL1	0.00	0	,
DVL3	0.00	0	,
DYM	0.00	0	,
DYNC1H1	0.00	0	,
DYNC2H1	0.00	0	,
DYNC2LI1	0.00	0	,
DYRK1A	0.00	0	,
DZIP1L	0.00	0	,
EARS2	0.00	0	,
EBF3	0.00	0	,
GLB1	0.00	0	,
ECEL1	0.00	0	,
EDA	0.00	0	,
EDN1	0.00	0	,
EDNRA	0.00	0	,
EDNRB	0.00	0	,
EED	0.00	0	,
EEF1A2	0.00	0	,
EFL1	0.00	0	,
EFNB1	0.00	0	,
EFTUD2	0.00	0	,
EGR2	0.00	0	,
EHBP1L1	0.00	0	,
EHHADH	0.00	0	,
EHMT1	0.00	0	,
EIF2AK3	0.00	0	,
EIF2B2	0.00	0	,
EIF2B3	0.00	0	,
EIF2S3	0.00	0	,
EIF4A3	0.00	0	,
EIF5A	0.00	0	,
ELAC2	0.00	0	,
ELMO2	0.00	0	,
ELN	0.00	0	,
ELOVL4	0.00	0	,
EMC1	0.00	0	,
EMD	0.00	0	,
EMG1	0.00	0	,
EML1	0.00	0	,
EMX2	0.00	0	,
ENPP1	0.00	0	,
EOGT	0.00	0	,
EP300	0.00	0	,
EPG5	0.00	0	,
EPHB4	0.00	0	,
EPHX1	0.00	0	,
ERBB3	0.00	0	,
ERCC1	0.00	0	,
ERCC2	0.00	0	,
ERCC3	0.00	0	,
ERCC4	0.00	0	,
ERCC5	0.00	0	,
ERCC6	0.00	0	,
ERCC8	0.00	0	,
ERF	0.00	0	,
ERGIC1	0.00	0	,
ERLIN2	0.00	0	,
ESCO2	0.00	0	,
ESRRG	0.00	0	,
ETFA	0.00	0	,
ETFB	0.00	0	,
ETFDH	0.00	0	,
EVC	0.00	0	,
EVC2	0.00	0	,
EXOC3L2	0.00	0	,
EXOSC3	0.00	0	,
EXPH5	0.00	0	,
EXT1	0.00	0	,
EXT2	0.00	0	,
EXTL3	0.00	0	,
EYA1	0.00	0	,
EZH2	0.00	0	,
FA2H	0.00	0	,
FANCA	0.00	0	,
FAM111A	0.00	0	,
HYCC1	0.00	0	,
FAM20A	0.00	0	,
FAM20C	0.00	0	,
FANCB	0.00	0	,
FANCC	0.00	0	,
FANCD2	0.00	0	,
FANCE	0.00	0	,
FANCF	0.00	0	,
FANCG	0.00	0	,
FANCI	0.00	0	,
FANCL	0.00	0	,
FANCM	0.00	0	,
FAR1	0.00	0	,
FAT4	0.00	0	,
FBLN5	0.00	0	,
FBN1	0.00	0	,
FBN2	0.00	0	,
FBXL4	0.00	0	,
FEZF1	0.00	0	,
FGD1	0.00	0	,
FGF10	0.00	0	,
FGF17	0.00	0	,
FGF3	0.00	0	,
FGF8	0.00	0	,
FGF9	0.00	0	,
FGFR1	0.00	0	,
FGFR2	0.00	0	,
FGFR3	0.00	0	,
FGG	0.00	0	,
FH	0.00	0	,
FIG4	0.00	0	,
FKBP10	0.00	0	,
FKBP14	0.00	0	,
FKBP8	0.00	0	,
FKRP	0.00	0	,
FKTN	0.00	0	,
FLNA	0.00	0	,
FLNB	0.00	0	,
FLNC	0.00	0	,
FLRT3	0.00	0	,
FLT4	0.00	0	,
FLVCR2	0.00	0	,
FMN2	0.00	0	,
FN1	0.00	0	,
FOLR1	0.00	0	,
FOXC1	0.00	0	,
FOXC2	0.00	0	,
FOXE1	0.00	0	,
FOXE3	0.00	0	,
FOXF1	0.00	0	,
FOXG1	0.00	0	,
FOXL2	0.00	0	,
FOXP2	0.00	0	,
FOXP3	0.00	0	,
FOXP4	0.00	0	,
FOXRED1	0.00	0	,
FRAS1	0.00	0	,
FREM1	0.00	0	,
FREM2	0.00	0	,
FRMD4A	0.00	0	,
FRMPD4	0.00	0	,
FRRS1L	0.00	0	,
FTL	0.00	0	,
FTO	0.00	0	,
FUCA1	0.00	0	,
FUT8	0.00	0	,
FUZ	0.00	0	,
FYCO1	0.00	0	,
FZD2	0.00	0	,
FZD5	0.00	0	,
G6PC3	0.00	0	,
GAA	0.00	0	,
GABRA1	0.00	0	,
GABRB2	0.00	0	,
GABRG2	0.00	0	,
GALC	0.00	0	,
GALE	0.00	0	,
GALK1	0.00	0	,
GALNS	0.00	0	,
GALNT2	0.00	0	,
GANAB	0.00	0	,
GATA1	0.00	0	,
GATA2	0.00	0	,
GATA3	0.00	0	,
GATA4	0.00	0	,
GATA6	0.00	0	,
GBA1	0.00	0	,
GBA2	0.00	0	,
GBE1	0.00	0	,
GCDH	0.00	0	,
GCSH	0.00	0	,
GDF1	0.00	0	,
GDF3	0.00	0	,
GDF5	0.00	0	,
GDF6	0.00	0	,
GFAP	0.00	0	,
GFM1	0.00	0	,
GFPT1	0.00	0	,
GFRA1	0.00	0	,
GJA1	0.00	0	,
GJA3	0.00	0	,
GJA8	0.00	0	,
GJB2	0.00	0	,
GJC2	0.00	0	,
GLA	0.00	0	,
GLDC	0.00	0	,
GLDN	0.00	0	,
GLE1	0.00	0	,
GLI1	0.00	0	,
GLI2	0.00	0	,
GLI3	0.00	0	,
GLIS2	0.00	0	,
GLIS3	0.00	0	,
GLUL	0.00	0	,
GM2A	0.00	0	,
GMNN	0.00	0	,
GMPPB	0.00	0	,
GNA11	0.00	0	,
GNA14	0.00	0	,
GNAI1	0.00	0	,
GNAI3	0.00	0	,
GNAO1	0.00	0	,
GNAQ	0.00	0	,
GNAS	0.00	0	,
GNB1	0.00	0	,
GNB5	0.00	0	,
GNPAT	0.00	0	,
GNPTAB	0.00	0	,
GNPTG	0.00	0	,
GNS	0.00	0	,
GORAB	0.00	0	,
GP1BB	0.00	0	,
GPAA1	0.00	0	,
GPC3	0.00	0	,
GPC6	0.00	0	,
GPI	0.00	0	,
GPKOW	0.00	0	,
GPSM2	0.00	0	,
GPX4	0.00	0	,
GREB1L	0.00	0	,
GRHL2	0.00	0	,
GRHL3	0.00	0	,
GRIN1	0.00	0	,
GRIN2B	0.00	0	,
GRIN2D	0.00	0	,
GRIP1	0.00	0	,
GRM1	0.00	0	,
GSC	0.00	0	,
GSPT2	0.00	0	,
GTF2E2	0.00	0	,
GTF2H5	0.00	0	,
GTPBP3	0.00	0	,
GUCY2C	0.00	0	,
GUCY2D	0.00	0	,
GUSB	0.00	0	,
GZF1	0.00	0	,
H1-4	0.00	0	,
H4C3	0.00	0	,
HAAO	0.00	0	,
HADHA	0.00	0	,
HADHB	0.00	0	,
HBA1	0.00	0	,
HBA2	0.00	0	,
HCCS	0.00	0	,
HCFC1	0.00	0	,
HDAC8	0.00	0	,
HES7	0.00	0	,
HESX1	0.00	0	,
HGSNAT	0.00	0	,
HIBCH	0.00	0	,
HIRA	0.00	0	,
HIVEP2	0.00	0	,
HLX	0.00	0	,
HMGA2	0.00	0	,
HMX1	0.00	0	,
HNF1B	0.00	0	,
HNF4A	0.00	0	,
HNRNPH2	0.00	0	,
HNRNPK	0.00	0	,
HOXA1	0.00	0	,
HOXA11	0.00	0	,
HOXA13	0.00	0	,
HOXA2	0.00	0	,
HOXB1	0.00	0	,
HOXD13	0.00	0	,
HPD	0.00	0	,
HPGD	0.00	0	,
HPSE2	0.00	0	,
HR	0.00	0	,
HRAS	0.00	0	,
HS6ST1	0.00	0	,
HSD17B3	0.00	0	,
HSD17B4	0.00	0	,
HSF4	0.00	0	,
HSPD1	0.00	0	,
HSPG2	0.00	0	,
HUWE1	0.00	0	,
HYAL1	0.00	0	,
HYLS1	0.00	0	,
IARS1	0.00	0	,
IBA57	0.00	0	,
IDH1	0.00	0	,
IDS	0.00	0	,
IDUA	0.00	0	,
IER3IP1	0.00	0	,
IFIH1	0.00	0	,
IFITM5	0.00	0	,
IFT122	0.00	0	,
IFT140	0.00	0	,
IFT172	0.00	0	,
IFT27	0.00	0	,
IFT43	0.00	0	,
IFT52	0.00	0	,
IFT80	0.00	0	,
IFT81	0.00	0	,
IFT88	0.00	0	,
IGBP1	0.00	0	,
IGF1	0.00	0	,
IGF1R	0.00	0	,
IGF2	0.00	0	,
IGFBP7	0.00	0	,
IGHMBP2	0.00	0	,
IHH	0.00	0	,
IKBKG	0.00	0	,
IL11RA	0.00	0	,
IL17RD	0.00	0	,
IL1RAPL1	0.00	0	,
BPNT2	0.00	0	,
IMPDH1	0.00	0	,
INCENP	0.00	0	,
INPP5B	0.00	0	,
INPP5E	0.00	0	,
INPP5K	0.00	0	,
INPPL1	0.00	0	,
INSR	0.00	0	,
INTU	0.00	0	,
INVS	0.00	0	,
IQCB1	0.00	0	,
IRF6	0.00	0	,
IRX1	0.00	0	,
IRX5	0.00	0	,
ITCH	0.00	0	,
ITGA3	0.00	0	,
ITGA6	0.00	0	,
ITGA8	0.00	0	,
ITGB4	0.00	0	,
ITPR1	0.00	0	,
JAG1	0.00	0	,
JAM3	0.00	0	,
JUP	0.00	0	,
KANSL1	0.00	0	,
KAT6A	0.00	0	,
KAT6B	0.00	0	,
KATNB1	0.00	0	,
KCNA1	0.00	0	,
KCNC3	0.00	0	,
KCNH1	0.00	0	,
KCNJ1	0.00	0	,
KCNJ13	0.00	0	,
KCNJ2	0.00	0	,
KCNJ6	0.00	0	,
KCNJ8	0.00	0	,
KCNK9	0.00	0	,
KCNQ2	0.00	0	,
KCNQ5	0.00	0	,
KCNT1	0.00	0	,
KCTD1	0.00	0	,
KCTD7	0.00	0	,
KDM1A	0.00	0	,
KDM5C	0.00	0	,
KDM6A	0.00	0	,
KATNIP	0.00	0	,
KIAA0586	0.00	0	,
KIAA0753	0.00	0	,
BLTP1	0.00	0	,
KIDINS220	0.00	0	,
KIF11	0.00	0	,
KIF14	0.00	0	,
KIF1A	0.00	0	,
KIF22	0.00	0	,
KIF26B	0.00	0	,
KIF2A	0.00	0	,
KIF5C	0.00	0	,
KIF7	0.00	0	,
KIFBP	0.00	0	,
KISS1R	0.00	0	,
KLF1	0.00	0	,
KLHL40	0.00	0	,
KLHL41	0.00	0	,
KLHL7	0.00	0	,
KMT2A	0.00	0	,
KMT2B	0.00	0	,
KMT2C	0.00	0	,
KMT2D	0.00	0	,
KNL1	0.00	0	,
KPTN	0.00	0	,
KRAS	0.00	0	,
KRIT1	0.00	0	,
KRT74	0.00	0	,
KYNU	0.00	0	,
L1CAM	0.00	0	,
L2HGDH	0.00	0	,
LAGE3	0.00	0	,
LAMA1	0.00	0	,
LAMA2	0.00	0	,
LAMA5	0.00	0	,
LAMB1	0.00	0	,
LAMC3	0.00	0	,
LARGE1	0.00	0	,
LARP7	0.00	0	,
LARS2	0.00	0	,
LBR	0.00	0	,
LCA5	0.00	0	,
LEMD3	0.00	0	,
LFNG	0.00	0	,
LGI4	0.00	0	,
LHB	0.00	0	,
LHX3	0.00	0	,
LHX4	0.00	0	,
LIAS	0.00	0	,
LIFR	0.00	0	,
LIG4	0.00	0	,
LINS1	0.00	0	,
LIPA	0.00	0	,
LIPN	0.00	0	,
LIPT1	0.00	0	,
LIPT2	0.00	0	,
LMBR1	0.00	0	,
LMBRD1	0.00	0	,
LMNA	0.00	0	,
LMNB1	0.00	0	,
LMNB2	0.00	0	,
LMOD3	0.00	0	,
LMX1B	0.00	0	,
LONP1	0.00	0	,
LRAT	0.00	0	,
LRBA	0.00	0	,
LRIG2	0.00	0	,
LRIT3	0.00	0	,
LRP2	0.00	0	,
CORIN	0.00	0	,
LRP5	0.00	0	,
LRRC56	0.00	0	,
DNAAF11	0.00	0	,
LTBP3	0.00	0	,
LTBP4	0.00	0	,
LYST	0.00	0	,
LZTFL1	0.00	0	,
LZTR1	0.00	0	,
MAB21L2	0.00	0	,
MACF1	0.00	0	,
MAF	0.00	0	,
MAFB	0.00	0	,
MAGEL2	0.00	0	,
MAMLD1	0.00	0	,
MAN1B1	0.00	0	,
MANBA	0.00	0	,
MAP2K1	0.00	0	,
MAP2K2	0.00	0	,
MAP3K1	0.00	0	,
MAP3K20	0.00	0	,
MAP3K7	0.00	0	,
MAPKBP1	0.00	0	,
MAPRE2	0.00	0	,
MASP1	0.00	0	,
MAT1A	0.00	0	,
MATN3	0.00	0	,
MBOAT7	0.00	0	,
MBTPS2	0.00	0	,
MCOLN1	0.00	0	,
MCPH1	0.00	0	,
MDH2	0.00	0	,
MECOM	0.00	0	,
MECP2	0.00	0	,
MECR	0.00	0	,
MED12	0.00	0	,
MED13L	0.00	0	,
MED17	0.00	0	,
MED28	0.00	0	,
MEF2C	0.00	0	,
MEGF10	0.00	0	,
MEGF8	0.00	0	,
MEIS2	0.00	0	,
MEOX1	0.00	0	,
MESD	0.00	0	,
MESP2	0.00	0	,
MFSD2A	0.00	0	,
MGP	0.00	0	,
MID1	0.00	0	,
MIPOL1	0.00	0	,
MITF	0.00	0	,
MKKS	0.00	0	,
MKS1	0.00	0	,
MLC1	0.00	0	,
MLH1	0.00	0	,
MLYCD	0.00	0	,
MMACHC	0.00	0	,
MMADHC	0.00	0	,
MMP13	0.00	0	,
MMP15	0.00	0	,
MMP21	0.00	0	,
MN1	0.00	0	,
MNX1	0.00	0	,
MOCOS	0.00	0	,
MOCS1	0.00	0	,
MOCS2	0.00	0	,
MOGS	0.00	0	,
MPDU1	0.00	0	,
MPDZ	0.00	0	,
MPL	0.00	0	,
MPLKIP	0.00	0	,
MPZ	0.00	0	,
MRAS	0.00	0	,
MRPS16	0.00	0	,
MRPS22	0.00	0	,
MRPS34	0.00	0	,
MSH2	0.00	0	,
MSH6	0.00	0	,
MSL3	0.00	0	,
MSMO1	0.00	0	,
MSTO1	0.00	0	,
MSX1	0.00	0	,
MSX2	0.00	0	,
MTM1	0.00	0	,
MTO1	0.00	0	,
MTOR	0.00	0	,
MUSK	0.00	0	,
MVK	0.00	0	,
MYBPC1	0.00	0	,
MYCN	0.00	0	,
MYH10	0.00	0	,
MYH11	0.00	0	,
MYH2	0.00	0	,
MYH3	0.00	0	,
MYH6	0.00	0	,
MYH7	0.00	0	,
MYH8	0.00	0	,
MYH9	0.00	0	,
MYL1	0.00	0	,
MYL9	0.00	0	,
MYLK	0.00	0	,
MYMK	0.00	0	,
MYO18B	0.00	0	,
MYO9A	0.00	0	,
MYOCD	0.00	0	,
MYOD1	0.00	0	,
MYPN	0.00	0	,
MYRF	0.00	0	,
MYT1	0.00	0	,
NAA10	0.00	0	,
NAA15	0.00	0	,
NACC1	0.00	0	,
NADSYN1	0.00	0	,
NAGA	0.00	0	,
NAGLU	0.00	0	,
NALCN	0.00	0	,
NANS	0.00	0	,
NAXE	0.00	0	,
NBAS	0.00	0	,
NBN	0.00	0	,
NDE1	0.00	0	,
NDP	0.00	0	,
NDUFA10	0.00	0	,
NDUFAF2	0.00	0	,
NDUFAF5	0.00	0	,
NDUFB11	0.00	0	,
NEB	0.00	0	,
NECTIN1	0.00	0	,
NECTIN4	0.00	0	,
NEDD4L	0.00	0	,
NEK1	0.00	0	,
NEK9	0.00	0	,
NEU1	0.00	0	,
NEXMIF	0.00	0	,
NF1	0.00	0	,
NFIX	0.00	0	,
NHEJ1	0.00	0	,
NHP2	0.00	0	,
NHS	0.00	0	,
NIN	0.00	0	,
NIPAL4	0.00	0	,
NIPBL	0.00	0	,
NKX2-5	0.00	0	,
NKX3-2	0.00	0	,
NKX6-2	0.00	0	,
NLRC4	0.00	0	,
RMRP	0.00	0	,
NMNAT1	0.00	0	,
NMNAT2	0.00	0	,
NODAL	0.00	0	,
NOG	0.00	0	,
NONO	0.00	0	,
NOTCH1	0.00	0	,
NOTCH2	0.00	0	,
NOVA2	0.00	0	,
NPC1	0.00	0	,
NPC2	0.00	0	,
NPHP1	0.00	0	,
NPHP3	0.00	0	,
NPHP4	0.00	0	,
NPHS1	0.00	0	,
NPRL2	0.00	0	,
NR0B1	0.00	0	,
NR2F2	0.00	0	,
NR5A1	0.00	0	,
NRAS	0.00	0	,
NRXN2	0.00	0	,
NSD1	0.00	0	,
NSDHL	0.00	0	,
NSMF	0.00	0	,
NSUN2	0.00	0	,
NT5C2	0.00	0	,
NTRK2	0.00	0	,
NUAK2	0.00	0	,
NUBPL	0.00	0	,
NUP107	0.00	0	,
NUP62	0.00	0	,
NUP88	0.00	0	,
NUS1	0.00	0	,
NXN	0.00	0	,
OBSL1	0.00	0	,
OCLN	0.00	0	,
OCRL	0.00	0	,
ODC1	0.00	0	,
OFD1	0.00	0	,
OPHN1	0.00	0	,
SLC25A15	0.00	0	,
ORC4	0.00	0	,
ORC6	0.00	0	,
OSGEP	0.00	0	,
OSTM1	0.00	0	,
OTUD5	0.00	0	,
OTUD6B	0.00	0	,
OTX2	0.00	0	,
P3H1	0.00	0	,
P4HB	0.00	0	,
PACS1	0.00	0	,
PAFAH1B1	0.00	0	,
PAICS	0.00	0	,
PAK3	0.00	0	,
PALB2	0.00	0	,
PAPSS2	0.00	0	,
PARN	0.00	0	,
PAX2	0.00	0	,
PAX3	0.00	0	,
PAX6	0.00	0	,
PAX7	0.00	0	,
PAX8	0.00	0	,
PBX1	0.00	0	,
PCGF2	0.00	0	,
PCNT	0.00	0	,
PCYT1A	0.00	0	,
PDCD10	0.00	0	,
PDE10A	0.00	0	,
PDE4D	0.00	0	,
PDE6D	0.00	0	,
PDE6H	0.00	0	,
PDGFB	0.00	0	,
PDGFRB	0.00	0	,
PDHA1	0.00	0	,
PDHB	0.00	0	,
PDHX	0.00	0	,
PDSS1	0.00	0	,
PDYN	0.00	0	,
PEPD	0.00	0	,
PET100	0.00	0	,
PEX1	0.00	0	,
PEX10	0.00	0	,
PEX11B	0.00	0	,
PEX12	0.00	0	,
PEX13	0.00	0	,
PEX14	0.00	0	,
PEX16	0.00	0	,
PEX19	0.00	0	,
PEX2	0.00	0	,
PEX26	0.00	0	,
PEX3	0.00	0	,
PEX5	0.00	0	,
PEX6	0.00	0	,
PEX7	0.00	0	,
PFKM	0.00	0	,
PGAP1	0.00	0	,
PGAP2	0.00	0	,
PGAP3	0.00	0	,
PGM1	0.00	0	,
PGM3	0.00	0	,
PHF21A	0.00	0	,
PHF6	0.00	0	,
PHF8	0.00	0	,
PHGDH	0.00	0	,
PHIP	0.00	0	,
PHOX2B	0.00	0	,
PIBF1	0.00	0	,
PIEZO1	0.00	0	,
PIEZO2	0.00	0	,
PIGA	0.00	0	,
PIGG	0.00	0	,
PIGL	0.00	0	,
PIGN	0.00	0	,
PIGO	0.00	0	,
PIGS	0.00	0	,
PIGT	0.00	0	,
PIGV	0.00	0	,
PIGY	0.00	0	,
DNAAF6	0.00	0	,
PIK3C2A	0.00	0	,
PIK3CA	0.00	0	,
PIK3R1	0.00	0	,
PIK3R2	0.00	0	,
PIP5K1C	0.00	0	,
PITX1	0.00	0	,
PITX2	0.00	0	,
PITX3	0.00	0	,
PKD1	0.00	0	,
PKD1L1	0.00	0	,
PKD2	0.00	0	,
PKHD1	0.00	0	,
PKLR	0.00	0	,
PLAA	0.00	0	,
PLAG1	0.00	0	,
PLCB1	0.00	0	,
PLCB4	0.00	0	,
PRKCSH	0.00	0	,
PLEC	0.00	0	,
PLG	0.00	0	,
PLK4	0.00	0	,
PLOD1	0.00	0	,
PLOD2	0.00	0	,
PLOD3	0.00	0	,
PLP1	0.00	0	,
PLPBP	0.00	0	,
PMM2	0.00	0	,
PMP22	0.00	0	,
PMS2	0.00	0	,
PNKP	0.00	0	,
PNPLA1	0.00	0	,
POC1A	0.00	0	,
POGZ	0.00	0	,
POLE	0.00	0	,
POLG2	0.00	0	,
POLR1A	0.00	0	,
POLR1B	0.00	0	,
POLR1C	0.00	0	,
POLR1D	0.00	0	,
POLR3A	0.00	0	,
POLR3B	0.00	0	,
POMGNT1	0.00	0	,
POMGNT2	0.00	0	,
POMK	0.00	0	,
POMT1	0.00	0	,
POMT2	0.00	0	,
BVES	0.00	0	,
PORCN	0.00	0	,
POU1F1	0.00	0	,
PPIB	0.00	0	,
PPP1CB	0.00	0	,
PPP2R1A	0.00	0	,
PPP2R5D	0.00	0	,
PPP3CA	0.00	0	,
PQBP1	0.00	0	,
PRDM5	0.00	0	,
PREPL	0.00	0	,
PRG4	0.00	0	,
PRIM1	0.00	0	,
PRKAG2	0.00	0	,
PRKAR1A	0.00	0	,
PRKD1	0.00	0	,
PRMT7	0.00	0	,
PROK2	0.00	0	,
PROKR2	0.00	0	,
PROP1	0.00	0	,
PRR12	0.00	0	,
PRRX1	0.00	0	,
PRSS56	0.00	0	,
PRUNE1	0.00	0	,
PRX	0.00	0	,
PSAP	0.00	0	,
PSAT1	0.00	0	,
PSPH	0.00	0	,
PTCH1	0.00	0	,
PTCH2	0.00	0	,
PTDSS1	0.00	0	,
PTEN	0.00	0	,
PTF1A	0.00	0	,
PTH	0.00	0	,
PTH1R	0.00	0	,
PTHLH	0.00	0	,
PTPN11	0.00	0	,
PTPN14	0.00	0	,
PTS	0.00	0	,
PUF60	0.00	0	,
PXDN	0.00	0	,
PYCR1	0.00	0	,
PYCR2	0.00	0	,
PYGM	0.00	0	,
PYROXD1	0.00	0	,
QARS1	0.00	0	,
QRICH1	0.00	0	,
RAB11A	0.00	0	,
RAB11B	0.00	0	,
RAB18	0.00	0	,
RAB23	0.00	0	,
RAB33B	0.00	0	,
RAB3GAP1	0.00	0	,
RAB3GAP2	0.00	0	,
RAB40AL	0.00	0	,
RAC1	0.00	0	,
NCOA3	0.00	0	,
RAD21	0.00	0	,
RAD51	0.00	0	,
RAD51C	0.00	0	,
RAF1	0.00	0	,
RAI1	0.00	0	,
RAPSN	0.00	0	,
RARB	0.00	0	,
RARS2	0.00	0	,
RASA1	0.00	0	,
PRKRA	0.00	0	,
RB1	0.00	0	,
RBBP8	0.00	0	,
RBM10	0.00	0	,
RBM8A	0.00	0	,
RBPJ	0.00	0	,
RCOR1	0.00	0	,
RD3	0.00	0	,
RDH12	0.00	0	,
RECQL4	0.00	0	,
RELN	0.00	0	,
REN	0.00	0	,
RERE	0.00	0	,
RET	0.00	0	,
RFT1	0.00	0	,
RFX6	0.00	0	,
RIN2	0.00	0	,
RIPK4	0.00	0	,
RIT1	0.00	0	,
RLIM	0.00	0	,
RMND1	0.00	0	,
RNASEH2A	0.00	0	,
RNASEH2B	0.00	0	,
RNASEH2C	0.00	0	,
RNASET2	0.00	0	,
ROBO1	0.00	0	,
ROBO3	0.00	0	,
ROGDI	0.00	0	,
ROR2	0.00	0	,
RORA	0.00	0	,
RPE65	0.00	0	,
RPGRIP1	0.00	0	,
RPGRIP1L	0.00	0	,
RPL15	0.00	0	,
RPL11	0.00	0	,
RPL26	0.00	0	,
RPL35A	0.00	0	,
RPL5	0.00	0	,
RPS10	0.00	0	,
RPS17	0.00	0	,
RPS19	0.00	0	,
RPS23	0.00	0	,
RPS24	0.00	0	,
RPS26	0.00	0	,
RPS6KA3	0.00	0	,
RPS7	0.00	0	,
RRAS	0.00	0	,
RRAS2	0.00	0	,
RRM2B	0.00	0	,
RSPH4A	0.00	0	,
RSPH9	0.00	0	,
RSPRY1	0.00	0	,
RTEL1	0.00	0	,
RTTN	0.00	0	,
RUNX2	0.00	0	,
RXYLT1	0.00	0	,
RYR1	0.00	0	,
SACS	0.00	0	,
SALL1	0.00	0	,
SALL4	0.00	0	,
SAMD9	0.00	0	,
SAMHD1	0.00	0	,
SASS6	0.00	0	,
SATB2	0.00	0	,
SBDS	0.00	0	,
SC5D	0.00	0	,
SCARF2	0.00	0	,
SCLT1	0.00	0	,
SCN1A	0.00	0	,
SCN2A	0.00	0	,
SCN3A	0.00	0	,
SCN4A	0.00	0	,
SCO2	0.00	0	,
SCUBE3	0.00	0	,
SCYL1	0.00	0	,
SDCCAG8	0.00	0	,
SDR9C7	0.00	0	,
SEC23A	0.00	0	,
SEC23B	0.00	0	,
SEC24D	0.00	0	,
SEC61B	0.00	0	,
SECISBP2	0.00	0	,
SELENON	0.00	0	,
SEMA3A	0.00	0	,
SEMA3E	0.00	0	,
SEPSECS	0.00	0	,
SEPTIN9	0.00	0	,
SERPINF1	0.00	0	,
SERPINH1	0.00	0	,
SET	0.00	0	,
SETBP1	0.00	0	,
SETD1A	0.00	0	,
SETD1B	0.00	0	,
SETD2	0.00	0	,
SETD5	0.00	0	,
SF3B4	0.00	0	,
SGCG	0.00	0	,
SGPL1	0.00	0	,
SGSH	0.00	0	,
SH3PXD2B	0.00	0	,
SHANK1	0.00	0	,
SHANK2	0.00	0	,
SHANK3	0.00	0	,
SHH	0.00	0	,
SHOC2	0.00	0	,
SHOX	0.00	0	,
SHROOM3	0.00	0	,
SIK3	0.00	0	,
SIL1	0.00	0	,
SIN3A	0.00	0	,
SIX1	0.00	0	,
SIX3	0.00	0	,
SIX5	0.00	0	,
SIX6	0.00	0	,
HHAT	0.00	0	,
SLC10A7	0.00	0	,
SLC12A1	0.00	0	,
SLC12A6	0.00	0	,
SLC13A5	0.00	0	,
SLC16A2	0.00	0	,
SLC17A5	0.00	0	,
SLC18A3	0.00	0	,
SLC1A2	0.00	0	,
SLC20A1	0.00	0	,
SLC20A2	0.00	0	,
SLC24A4	0.00	0	,
SLC25A19	0.00	0	,
SLC25A20	0.00	0	,
SLC25A22	0.00	0	,
SLC25A24	0.00	0	,
SLC25A38	0.00	0	,
SLC25A4	0.00	0	,
SLC26A2	0.00	0	,
SLC26A3	0.00	0	,
SLC27A4	0.00	0	,
SLC29A3	0.00	0	,
SLC2A10	0.00	0	,
SLC33A1	0.00	0	,
SLC35A1	0.00	0	,
SLC35A2	0.00	0	,
SLC35A3	0.00	0	,
SLC35C1	0.00	0	,
SLC35D1	0.00	0	,
SLC39A8	0.00	0	,
SLC45A1	0.00	0	,
SLC5A7	0.00	0	,
SLC6A17	0.00	0	,
SLC6A8	0.00	0	,
SLC6A9	0.00	0	,
SLC7A9	0.00	0	,
SLC9A6	0.00	0	,
SLIT2	0.00	0	,
SLX4	0.00	0	,
SMAD3	0.00	0	,
SMAD4	0.00	0	,
SMARCA2	0.00	0	,
SMARCA4	0.00	0	,
SMARCB1	0.00	0	,
SMARCC1	0.00	0	,
SMARCE1	0.00	0	,
SMC1A	0.00	0	,
SMC3	0.00	0	,
SMCHD1	0.00	0	,
SMG9	0.00	0	,
SMN1	0.00	0	,
SMO	0.00	0	,
SMOC1	0.00	0	,
SMOC2	0.00	0	,
SMPD1	0.00	0	,
SMPD4	0.00	0	,
SNAP25	0.00	0	,
SNAP29	0.00	0	,
SNIP1	0.00	0	,
SNRPB	0.00	0	,
SNRPE	0.00	0	,
SNX10	0.00	0	,
SNX14	0.00	0	,
SON	0.00	0	,
SOS1	0.00	0	,
SOS2	0.00	0	,
SOST	0.00	0	,
SOX10	0.00	0	,
SOX11	0.00	0	,
SOX17	0.00	0	,
SOX18	0.00	0	,
SOX2	0.00	0	,
SOX3	0.00	0	,
SOX5	0.00	0	,
SOX6	0.00	0	,
SOX9	0.00	0	,
SP7	0.00	0	,
SPAG1	0.00	0	,
SPARC	0.00	0	,
AFG2A	0.00	0	,
SPATA7	0.00	0	,
SPECC1L	0.00	0	,
SPEG	0.00	0	,
SPG11	0.00	0	,
SPRED1	0.00	0	,
SPRY4	0.00	0	,
SPTAN1	0.00	0	,
SRCAP	0.00	0	,
SRD5A2	0.00	0	,
SRD5A3	0.00	0	,
SRGAP1	0.00	0	,
SRP54	0.00	0	,
SRY	0.00	0	,
ST14	0.00	0	,
ST3GAL3	0.00	0	,
ST3GAL5	0.00	0	,
STAC3	0.00	0	,
STAG2	0.00	0	,
STAMBP	0.00	0	,
STAT3	0.00	0	,
STAT5B	0.00	0	,
STIL	0.00	0	,
STRA6	0.00	0	,
STRADA	0.00	0	,
STS	0.00	0	,
STX1B	0.00	0	,
STXBP1	0.00	0	,
SUCLG1	0.00	0	,
SUFU	0.00	0	,
SULT2B1	0.00	0	,
SUMF1	0.00	0	,
SUMO1	0.00	0	,
SUZ12	0.00	0	,
SYN1	0.00	0	,
SYNE1	0.00	0	,
SYNM	0.00	0	,
SZT2	0.00	0	,
TAB2	0.00	0	,
TAC3	0.00	0	,
TACO1	0.00	0	,
TACR3	0.00	0	,
TAF1	0.00	0	,
TAF13	0.00	0	,
TAF2	0.00	0	,
TALDO1	0.00	0	,
TAPT1	0.00	0	,
WWTR1	0.00	0	,
TBC1D1	0.00	0	,
TBC1D20	0.00	0	,
TBC1D23	0.00	0	,
TBC1D24	0.00	0	,
TBC1D32	0.00	0	,
TBCD	0.00	0	,
TBCE	0.00	0	,
TBCK	0.00	0	,
TBL1XR1	0.00	0	,
TBR1	0.00	0	,
TBX1	0.00	0	,
TBX15	0.00	0	,
TBX18	0.00	0	,
TBX20	0.00	0	,
TBX22	0.00	0	,
TBX3	0.00	0	,
TBX4	0.00	0	,
TBX5	0.00	0	,
TBX6	0.00	0	,
TBXT	0.00	0	,
TCF12	0.00	0	,
TCF20	0.00	0	,
TCF4	0.00	0	,
TCIRG1	0.00	0	,
TCOF1	0.00	0	,
DYNLT2B	0.00	0	,
TCTN1	0.00	0	,
TCTN2	0.00	0	,
TCTN3	0.00	0	,
TECPR2	0.00	0	,
TELO2	0.00	0	,
TENM3	0.00	0	,
TENT5A	0.00	0	,
TFAP2A	0.00	0	,
TFAP2B	0.00	0	,
TGDS	0.00	0	,
TGFB2	0.00	0	,
TGFB3	0.00	0	,
TGFBR1	0.00	0	,
TGFBR2	0.00	0	,
TGIF1	0.00	0	,
TGM1	0.00	0	,
THOC2	0.00	0	,
THOC6	0.00	0	,
THRA	0.00	0	,
THSD1	0.00	0	,
TINF2	0.00	0	,
TLL1	0.00	0	,
TMCO1	0.00	0	,
TMEM107	0.00	0	,
TMEM138	0.00	0	,
TMEM165	0.00	0	,
TMEM216	0.00	0	,
TMEM231	0.00	0	,
TMEM237	0.00	0	,
TMEM260	0.00	0	,
TMEM38B	0.00	0	,
TMEM67	0.00	0	,
TMEM70	0.00	0	,
TMEM94	0.00	0	,
TMEM98	0.00	0	,
TMTC3	0.00	0	,
TMX2	0.00	0	,
TNC	0.00	0	,
TNFRSF13B	0.00	0	,
TNNI2	0.00	0	,
TNNT1	0.00	0	,
TNNT3	0.00	0	,
TNXB	0.00	0	,
TOE1	0.00	0	,
TOP3A	0.00	0	,
TOR1A	0.00	0	,
TP53RK	0.00	0	,
TP63	0.00	0	,
TPM2	0.00	0	,
TPM3	0.00	0	,
TRAF3IP1	0.00	0	,
TRAF7	0.00	0	,
TRAIP	0.00	0	,
TRAP1	0.00	0	,
TRAPPC11	0.00	0	,
TRAPPC12	0.00	0	,
TRAPPC9	0.00	0	,
TREM2	0.00	0	,
TREX1	0.00	0	,
TRIM32	0.00	0	,
TRIM37	0.00	0	,
TRIO	0.00	0	,
TRIP11	0.00	0	,
TRIP12	0.00	0	,
TRIP13	0.00	0	,
TRIP4	0.00	0	,
TRMT10A	0.00	0	,
TRMT10C	0.00	0	,
TRPM7	0.00	0	,
TRPS1	0.00	0	,
TRPV3	0.00	0	,
TRPV4	0.00	0	,
TRPV6	0.00	0	,
TSC1	0.00	0	,
TSC2	0.00	0	,
TSEN15	0.00	0	,
TSEN2	0.00	0	,
TSEN34	0.00	0	,
TSEN54	0.00	0	,
TSFM	0.00	0	,
TSPYL1	0.00	0	,
TTC21B	0.00	0	,
ODAD4	0.00	0	,
SKIC3	0.00	0	,
TTC7A	0.00	0	,
TTC8	0.00	0	,
TTC9	0.00	0	,
TTI2	0.00	0	,
TTN	0.00	0	,
TUBA1A	0.00	0	,
TUBA8	0.00	0	,
TUBB	0.00	0	,
TUBB2A	0.00	0	,
TUBB2B	0.00	0	,
TUBB3	0.00	0	,
TUBB4A	0.00	0	,
TUBG1	0.00	0	,
TUBGCP4	0.00	0	,
TUBGCP6	0.00	0	,
TUFM	0.00	0	,
TULP1	0.00	0	,
TWIST1	0.00	0	,
TWIST2	0.00	0	,
TXNDC15	0.00	0	,
TXNL4A	0.00	0	,
TYR	0.00	0	,
TYROBP	0.00	0	,
UBA1	0.00	0	,
UBB	0.00	0	,
UBE2T	0.00	0	,
UBE3A	0.00	0	,
UBE3B	0.00	0	,
UBR1	0.00	0	,
UBTF	0.00	0	,
UFD1	0.00	0	,
UMOD	0.00	0	,
UMPS	0.00	0	,
UNC50	0.00	0	,
UPF3B	0.00	0	,
UPK3A	0.00	0	,
UQCRB	0.00	0	,
UQCRQ	0.00	0	,
UROS	0.00	0	,
USP18	0.00	0	,
USP27X	0.00	0	,
USP9X	0.00	0	,
UTRN	0.00	0	,
VAMP1	0.00	0	,
VANGL1	0.00	0	,
VANGL2	0.00	0	,
VAX1	0.00	0	,
VDR	0.00	0	,
VEGFC	0.00	0	,
VIPAS39	0.00	0	,
VLDLR	0.00	0	,
VMA21	0.00	0	,
VPS13B	0.00	0	,
VPS33B	0.00	0	,
VPS53	0.00	0	,
VRK1	0.00	0	,
VSX2	0.00	0	,
VTI1A	0.00	0	,
VWA2	0.00	0	,
WASHC5	0.00	0	,
WBP11	0.00	0	,
WDPCP	0.00	0	,
WDR11	0.00	0	,
WDR19	0.00	0	,
WDR26	0.00	0	,
DYNC2I2	0.00	0	,
WDR35	0.00	0	,
WDR4	0.00	0	,
DYNC2I1	0.00	0	,
WDR62	0.00	0	,
WDR73	0.00	0	,
WDR81	0.00	0	,
WNT1	0.00	0	,
WNT10B	0.00	0	,
WNT3	0.00	0	,
WNT4	0.00	0	,
WNT5A	0.00	0	,
WNT7A	0.00	0	,
WRAP53	0.00	0	,
WT1	0.00	0	,
WWOX	0.00	0	,
XRCC4	0.00	0	,
XYLT1	0.00	0	,
XYLT2	0.00	0	,
YAP1	0.00	0	,
YWHAG	0.00	0	,
YY1	0.00	0	,
ZBTB18	0.00	0	,
ZBTB20	0.00	0	,
ZC4H2	0.00	0	,
ZDHHC9	0.00	0	,
ZEB2	0.00	0	,
ZFP57	0.00	0	,
ZFPM2	0.00	0	,
ZFYVE26	0.00	0	,
ZIC1	0.00	0	,
ZIC2	0.00	0	,
ZIC3	0.00	0	,
ZMPSTE24	0.00	0	,
ZMYND10	0.00	0	,
ZMYND11	0.00	0	,
ZNF423	0.00	0	,
ZNF462	0.00	0	,
ZNF469	0.00	0	,
ZNF750	0.00	0	,
ZNRF3	0.00	0	,
ZPR1	0.00	0	,
ZSWIM6	0.00	0	,

Congenital malformation gene panel - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AAAS	100.00	No comment
ABAT	100.00	No comment
ABCC6	100.00	No comment
ABCD1	99.93	No comment
ABCD3	99.97	No comment
ABL1	100.00	No comment
ACAN	98.89	No comment
ACO2	100.00	No comment
ACTA1	100.00	No comment
ACTB	100.00	No comment
ACTG1	100.00	No comment
ADAMTS10	99.88	No comment
ADAMTS17	89.95	No comment
ADAMTSL2	100.00	No comment
ADAR	100.00	No comment
ADGRG1	100.00	No comment
ADGRG6	100.00	No comment
ADSL	100.00	No comment
AHI1	100.00	No comment
AIMP1	100.00	No comment
AIPL1	100.00	No comment
AIRE	99.88	No comment
AKR1C2	99.98	No comment
AKT1	100.00	No comment
AKT3	100.00	No comment
ALDH1A3	99.83	No comment
ALMS1	100.00	No comment
ALPL	100.00	No comment
ALX1	100.00	No comment
ALX3	91.36	No comment
ALX4	99.70	No comment
AMER1	100.00	No comment
AMT	99.94	No comment
ANKRD11	100.00	No comment
ANOS1	95.04	No comment
ANTXR2	100.00	No comment
AP4B1	100.00	No comment
AR	99.29	No comment
ARFGEF2	100.00	No comment
ARHGAP31	100.00	No comment
ARID1A	94.64	No comment
ARID1B	92.99	No comment
ARL13B	100.00	No comment
ARL6	100.00	No comment
ARVCF	100.00	No comment
ARX	78.98	No comment
ASNS	100.00	No comment
ASPA	100.00	No comment
ASPM	100.00	No comment
ASS1	99.87	No comment
ASXL1	99.91	No comment
ATL1	100.00	No comment
ATM	100.00	No comment
ATP6V0A2	100.00	No comment
ATP7A	100.00	No comment
ATP8A2	99.93	No comment
ANTXR1	100.00	No comment
ATRX	100.00	No comment
ATXN10	99.48	No comment
B3GALNT2	85.88	No comment
B3GALT6	56.12	No comment
B3GAT3	95.56	No comment
B3GLCT	94.89	No comment
B4GALT1	100.00	No comment
B4GAT1	100.00	No comment
B9D1	100.00	No comment
B9D2	100.00	No comment
BBIP1	100.00	No comment
BBS1	100.00	No comment
BBS10	100.00	No comment
BBS12	100.00	No comment
BBS2	100.00	No comment
BBS4	100.00	No comment
BBS5	100.00	No comment
BBS7	100.00	No comment
BBS9	100.00	No comment
BCOR	100.00	No comment
BDNF	100.00	No comment
BIN1	100.00	No comment
BMP2	100.00	No comment
BMP4	100.00	No comment
BMPER	100.00	No comment
BMPR1B	100.00	No comment
BRAF	96.97	No comment
BRIP1	100.00	No comment
BSND	100.00	No comment
BUB1	100.00	No comment
BUB1B	100.00	No comment
BUB3	100.00	No comment
C12ORF57	100.00	No comment
CACNA1A	98.78	No comment
CASK	100.00	No comment
CBL	100.00	No comment
CC2D2A	98.16	No comment
CCBE1	99.97	No comment
CCDC28B	100.00	No comment
CCM2	99.98	No comment
CCNQ	84.41	No comment
CD96	100.00	No comment
CDC6	100.00	No comment
CDH1	98.08	No comment
CDKL5	100.00	No comment
CDKN1C	62.25	No comment
CDON	100.00	No comment
CDT1	87.95	No comment
CENPF	100.00	No comment
CEP164	100.00	No comment
CEP290	99.99	No comment
CEP41	100.00	No comment
CEP57	100.00	No comment
CFTR	99.91	No comment
CHAT	100.00	No comment
CHD7	100.00	No comment
CHMP1A	100.00	No comment
CHN1	99.56	No comment
CHRNA1	100.00	No comment
CHRNB1	100.00	No comment
CHRND	100.00	No comment
CHRNE	100.00	No comment
CHRNG	100.00	No comment
CHST14	98.57	No comment
CHST3	100.00	No comment
CHSY1	91.67	No comment
CHUK	99.76	No comment
CKAP2L	100.00	No comment
CNTN1	100.00	No comment
COG4	100.00	No comment
COL11A1	100.00	No comment
COL11A2	99.14	No comment
COL18A1	97.80	No comment
COL1A1	100.00	No comment
COL1A2	99.93	No comment
COL2A1	100.00	No comment
COL3A1	100.00	No comment
COL4A1	98.71	No comment
COL5A1	98.16	No comment
COL5A2	100.00	No comment
COL6A1	100.00	No comment
COL6A2	100.00	No comment
COL6A3	100.00	No comment
COL7A1	100.00	No comment
COL9A1	100.00	No comment
COL9A2	100.00	No comment
COLEC11	100.00	No comment
COMT	100.00	No comment
COX7B	99.88	No comment
CPLANE1	100.00	No comment
CPT2	98.71	No comment
CRB1	100.00	No comment
CREBBP	100.00	No comment
CRH	100.00	No comment
CRLF1	89.81	No comment
CRPPA	95.75	No comment
CRX	100.00	No comment
CSPP1	100.00	No comment
CTCF	100.00	No comment
CTNS	100.00	No comment
CTSA	100.00	No comment
CUL7	99.99	No comment
CXCR4	100.00	No comment
CYP11B1	100.00	No comment
CYP17A1	100.00	No comment
CYP19A1	100.00	No comment
CYP21A2	100.00	No comment
CYP2U1	93.04	No comment
DARS1	100.00	No comment
DCHS1	99.64	No comment
DCX	100.00	No comment
DDHD2	100.00	No comment
DDX59	100.00	No comment
DHCR24	99.96	No comment
DHCR7	100.00	No comment
DHH	99.75	No comment
DHODH	100.00	No comment
DIS3L2	100.00	No comment
DKC1	100.00	No comment
DLL3	78.42	No comment
DLX5	100.00	No comment
DMD	100.00	No comment
DMPK	99.97	No comment
DNM2	99.95	No comment
DOCK6	99.12	No comment
DOK7	98.77	No comment
DPYD	100.00	No comment
DSP	100.00	No comment
DUSP6	100.00	No comment
DYM	100.00	No comment
DYNC1H1	100.00	No comment
DYNC2H1	100.00	No comment
EARS2	100.00	No comment
GLB1	100.00	No comment
ECEL1	95.92	No comment
EFNB1	100.00	No comment
EFTUD2	100.00	No comment
EGR2	100.00	No comment
EHMT1	98.85	No comment
EIF2AK3	95.52	No comment
EIF4A3	100.00	No comment
EMD	99.84	No comment
EMG1	100.00	No comment
EMX2	100.00	No comment
EOGT	100.00	No comment
EP300	100.00	No comment
EPG5	100.00	No comment
EPHX1	100.00	No comment
ERBB3	100.00	No comment
ERCC1	100.00	No comment
ERCC2	100.00	No comment
ERCC4	100.00	No comment
ERCC5	100.00	No comment
ERCC6	100.00	No comment
ERLIN2	100.00	No comment
ESCO2	100.00	No comment
EVC	94.45	No comment
EVC2	99.55	No comment
EYA1	100.00	No comment
EZH2	100.00	No comment
FA2H	92.06	No comment
FAM111A	100.00	No comment
FAM20C	92.71	No comment
FANCA	99.70	No comment
FANCB	100.00	No comment
FANCC	100.00	No comment
FANCD2	100.00	No comment
FANCE	91.17	No comment
FANCF	100.00	No comment
FANCG	100.00	No comment
FANCI	100.00	No comment
FANCL	100.00	No comment
FANCM	100.00	No comment
FAT4	100.00	No comment
FBN1	100.00	No comment
FBN2	100.00	No comment
FBXL4	100.00	No comment
FGD1	99.39	No comment
FGF10	100.00	No comment
FGF17	100.00	No comment
FGF8	94.82	No comment
FGF9	100.00	No comment
FGFR1	100.00	No comment
FGFR2	100.00	No comment
FGFR3	99.26	No comment
FH	100.00	No comment
FIG4	100.00	No comment
FKBP14	100.00	No comment
FKRP	98.68	No comment
FKTN	100.00	No comment
FLNA	100.00	No comment
FLNB	100.00	No comment
FLRT3	100.00	No comment
FLT4	98.20	No comment
FLVCR2	100.00	No comment
FOXC1	62.57	No comment
FOXC2	72.63	No comment
FOXE1	60.48	No comment
FOXG1	85.88	No comment
FRAS1	100.00	No comment
FREM1	100.00	No comment
FREM2	100.00	No comment
FTO	100.00	No comment
FUZ	100.00	No comment
G6PC3	100.00	No comment
GAA	100.00	No comment
GATA1	100.00	No comment
GATA4	80.69	No comment
GATA6	81.11	No comment
GBA1	100.00	No comment
GBA2	100.00	No comment
GBE1	100.00	No comment
GCSH	76.04	No comment
GDF1	58.25	No comment
GDF3	100.00	No comment
GDF5	100.00	No comment
GDF6	93.56	No comment
GFAP	100.00	No comment
GFM1	100.00	No comment
GJA1	100.00	No comment
GJB2	98.23	No comment
GJC2	81.91	No comment
GLDC	96.53	No comment
GLE1	100.00	No comment
GLI2	95.11	No comment
GLI3	100.00	No comment
GLUL	100.00	No comment
GMPPB	100.00	No comment
GNAI3	100.00	No comment
GNAO1	100.00	No comment
GNPTAB	100.00	No comment
GNPTG	94.69	No comment
GP1BB	25.16	No comment
GPC3	100.00	No comment
GPC6	100.00	No comment
GPI	100.00	No comment
GPSM2	100.00	No comment
GRHL3	100.00	No comment
GRIP1	100.00	No comment
GRM1	100.00	No comment
GUCY2D	99.13	No comment
GUSB	100.00	No comment
H19	100.00	No comment
HADHA	100.00	No comment
HADHB	100.00	No comment
HCCS	100.00	No comment
HDAC8	100.00	No comment
HES7	99.67	No comment
HESX1	100.00	No comment
HIBCH	100.00	No comment
HIRA	99.90	No comment
HOXA11	99.40	No comment
HOXA13	73.35	No comment
HOXA2	99.99	No comment
HOXD13	80.52	No comment
HPGD	99.99	No comment
HRAS	100.00	No comment
HS6ST1	98.52	No comment
HSD17B3	100.00	No comment
HSD17B4	100.00	No comment
HSPG2	99.43	No comment
HYAL1	100.00	No comment
HYLS1	100.00	No comment
IBA57	87.89	No comment
CILK1	100.00	No comment
IDS	100.00	No comment
IDUA	88.67	No comment
IER3IP1	99.93	No comment
IFIH1	100.00	No comment
IFT172	100.00	No comment
IFT27	100.00	No comment
IFT80	100.00	No comment
IFT88	99.71	No comment
IGBP1	100.00	No comment
IGHMBP2	100.00	No comment
IHH	99.88	No comment
IKBKG	99.74	No comment
IL10	100.00	No comment
IL17RD	98.31	No comment
IMPDH1	97.72	No comment
INPP5E	99.54	No comment
INSR	97.31	No comment
IQCB1	100.00	No comment
IRF6	100.00	No comment
ITGA6	100.00	No comment
ITGA8	99.96	No comment
ITGB4	98.41	No comment
ITPR1	100.00	No comment
JAG1	99.66	No comment
JAM3	100.00	No comment
JUP	100.00	No comment
KANSL1	100.00	No comment
KAT6B	100.00	No comment
KCNA1	100.00	No comment
KCNJ13	100.00	No comment
KCNJ2	100.00	No comment
KCNK9	100.00	No comment
KCNQ1OT1	0.55	No comment
KCNQ2	99.98	No comment
KCNT1	99.74	No comment
KCTD1	92.53	No comment
KCTD7	97.35	No comment
KDM6A	100.00	No comment
KIF14	100.00	No comment
KIF1A	99.90	No comment
KIFBP	100.00	No comment
KIF2A	98.88	No comment
KIF5C	100.00	No comment
KIF7	96.94	No comment
KISS1R	94.58	No comment
KMT2D	100.00	No comment
KRAS	100.00	No comment
L1CAM	100.00	No comment
L2HGDH	99.96	No comment
LAMA2	100.00	No comment
LAMB1	100.00	No comment
LAMC3	97.51	No comment
LARGE1	100.00	No comment
LBR	100.00	No comment
LCA5	100.00	No comment
LEMD3	100.00	No comment
LFNG	82.55	No comment
LHB	97.18	No comment
LHX3	94.36	No comment
LHX4	100.00	No comment
LIFR	100.00	No comment
LMBR1	100.00	No comment
LMNA	99.93	No comment
LMNB1	97.46	No comment
LMX1B	99.99	No comment
LRAT	100.00	No comment
LRP2	99.96	No comment
CORIN	98.90	No comment
LZTFL1	100.00	No comment
MAP2K1	100.00	No comment
MAP2K2	99.98	No comment
MAP3K1	92.79	No comment
MASP1	100.00	No comment
MBTPS2	100.00	No comment
MCOLN1	97.27	No comment
MCPH1	100.00	No comment
MED12	99.96	No comment
MEF2C	100.00	No comment
MEGF10	100.00	No comment
MEOX1	100.00	No comment
MESP2	100.00	No comment
MFRP	100.00	No comment
MGP	100.00	No comment
MID1	100.00	No comment
MIPOL1	100.00	No comment
MKKS	100.00	No comment
MKS1	100.00	No comment
MLH1	100.00	No comment
MOCS1	99.95	No comment
MOCS2	100.00	No comment
MPL	100.00	No comment
MPZ	100.00	No comment
MRPS16	100.00	No comment
MRPS22	100.00	No comment
MSH2	100.00	No comment
MSH6	100.00	No comment
MSX1	97.41	No comment
MSX2	100.00	No comment
MTM1	100.00	No comment
MUSK	100.00	No comment
MVK	100.00	No comment
MYBPC1	100.00	No comment
MYH2	100.00	No comment
MYH3	100.00	No comment
MYH8	100.00	No comment
MYOD1	98.47	No comment
NAA10	96.03	No comment
NBN	100.00	No comment
NDE1	100.00	No comment
NEB	99.99	No comment
NECTIN1	100.00	No comment
NEK1	100.00	No comment
NEXMIF	100.00	No comment
NF1	99.95	No comment
NFIX	97.15	No comment
NIN	100.00	No comment
NIPBL	99.98	No comment
NKX2-5	100.00	No comment
NMNAT1	100.00	No comment
NODAL	99.99	No comment
NOG	100.00	No comment
NOTCH2	99.76	No comment
NPC1	98.40	No comment
NPC2	100.00	No comment
NPHP1	100.00	No comment
NPHP3	99.87	No comment
NPRL2	100.00	No comment
NR0B1	100.00	No comment
NR5A1	100.00	No comment
NRAS	100.00	No comment
NSD1	100.00	No comment
NSDHL	100.00	No comment
NSMF	95.23	No comment
NT5C2	100.00	No comment
OBSL1	98.31	No comment
OCLN	100.00	No comment
OCRL	99.77	No comment
OFD1	99.88	No comment
OPHN1	100.00	No comment
SLC25A15	100.00	No comment
ORC4	100.00	No comment
ORC6	100.00	No comment
OTX2	100.00	No comment
PAFAH1B1	100.00	No comment
PALB2	100.00	No comment
PAX2	99.80	No comment
PAX3	100.00	No comment
PAX6	100.00	No comment
PCNT	100.00	No comment
PDE4D	98.77	No comment
PDE6D	100.00	No comment
PDGFB	99.77	No comment
PDGFRB	100.00	No comment
PDHA1	98.17	No comment
PDHB	100.00	No comment
PDHX	99.87	No comment
PDYN	100.00	No comment
PEX1	100.00	No comment
PEX10	88.47	No comment
PEX11B	100.00	No comment
PEX12	100.00	No comment
PEX13	100.00	No comment
PEX14	100.00	No comment
PEX16	100.00	No comment
PEX19	100.00	No comment
PEX2	100.00	No comment
PEX26	100.00	No comment
PEX3	100.00	No comment
PEX5	100.00	No comment
PEX6	98.56	No comment
PEX7	91.13	No comment
PFKM	100.00	No comment
PGM1	100.00	No comment
PHF6	100.00	No comment
PHF8	100.00	No comment
PIGA	100.00	No comment
PIGL	100.00	No comment
PIGV	100.00	No comment
PIK3CA	100.00	No comment
PIK3R2	89.19	No comment
PIP5K1C	95.60	No comment
PITX1	98.27	No comment
PKHD1	100.00	No comment
PLCB4	100.00	No comment
PLEC	99.82	No comment
PLK4	100.00	No comment
PLOD1	99.91	No comment
PLOD3	100.00	No comment
PLP1	100.00	No comment
PMM2	100.00	No comment
PMP22	100.00	No comment
PMS2	99.97	No comment
PNKP	100.00	No comment
POLR1C	100.00	No comment
POLR1D	100.00	No comment
POLR3A	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	99.90	No comment
PORCN	100.00	No comment
POU1F1	100.00	No comment
PQBP1	100.00	No comment
PRDM5	100.00	No comment
PRG4	100.00	No comment
PRKAR1A	100.00	No comment
PROK2	98.51	No comment
PROKR2	100.00	No comment
PROP1	100.00	No comment
PRRX1	100.00	No comment
PRSS56	98.00	No comment
PRX	100.00	No comment
PSAP	100.00	No comment
PSAT1	100.00	No comment
PTCH1	98.48	No comment
PTCH2	100.00	No comment
PTDSS1	100.00	No comment
PTEN	98.86	No comment
PTH1R	99.01	No comment
PTPN11	98.80	No comment
PYCR1	100.00	No comment
RAB18	100.00	No comment
RAB23	100.00	No comment
RAB3GAP1	100.00	No comment
RAB3GAP2	100.00	No comment
RAB40AL	100.00	No comment
RAD21	100.00	No comment
RAD51C	100.00	No comment
RAF1	100.00	No comment
RAI1	96.06	No comment
RAPSN	100.00	No comment
PRKRA	90.07	No comment
RB1	99.04	No comment
RBM10	100.00	No comment
RBM8A	100.00	No comment
RD3	100.00	No comment
RDH12	100.00	No comment
RECQL4	96.37	No comment
RELN	99.96	No comment
RET	98.13	No comment
RIPK4	100.00	No comment
RIT1	100.00	No comment
RMND1	100.00	No comment
RMRP	100.00	No comment
RNASEH2A	100.00	No comment
RNASEH2B	95.67	No comment
RNASEH2C	100.00	No comment
RNU4ATAC	100.00	No comment
ROR2	98.67	No comment
RPE65	100.00	No comment
RPGRIP1	100.00	No comment
RPGRIP1L	96.45	No comment
RPL11	100.00	No comment
RPL15	86.16	No comment
RPL26	100.00	No comment
RPL35A	100.00	No comment
RPL5	99.37	No comment
RPS10	100.00	No comment
RPS17	98.70	No comment
RPS19	100.00	No comment
RPS24	100.00	No comment
RPS26	100.00	No comment
RPS6KA3	98.71	No comment
RPS7	92.83	No comment
RTTN	100.00	No comment
RUNX2	98.51	No comment
RXYLT1	99.84	No comment
RYR1	98.38	No comment
SACS	99.97	No comment
SALL1	100.00	No comment
SALL4	100.00	No comment
SAMHD1	100.00	No comment
SATB2	100.00	No comment
SC5D	100.00	No comment
SCARF2	86.46	No comment
SDCCAG8	100.00	No comment
SEC23A	100.00	No comment
SELENON	84.04	No comment
SEMA3A	100.00	No comment
SEMA3E	100.00	No comment
SEPSECS	99.97	No comment
SEPTIN9	100.00	No comment
SETBP1	99.99	No comment
SF3B4	100.00	No comment
SH3PXD2B	99.68	No comment
SHANK3	83.99	No comment
SHH	92.83	No comment
SHOC2	100.00	No comment
SIX1	100.00	No comment
SIX3	99.59	No comment
SIX5	88.67	No comment
SIX6	100.00	No comment
HHAT	90.28	No comment
SLC12A1	100.00	No comment
SLC12A6	100.00	No comment
SLC20A2	100.00	No comment
SLC25A19	100.00	No comment
SLC26A2	99.96	No comment
SLC2A10	98.97	No comment
SLC35A2	100.00	No comment
SLC35A3	100.00	No comment
SLC35D1	99.99	No comment
SLC6A8	98.78	No comment
SLC9A6	99.96	No comment
SLX4	100.00	No comment
SMAD3	100.00	No comment
SMAD4	100.00	No comment
SMARCA4	100.00	No comment
SMARCB1	100.00	No comment
SMARCE1	100.00	No comment
SMC1A	100.00	No comment
SMC3	100.00	No comment
SMOC1	99.36	No comment
SNAP29	100.00	No comment
SNIP1	100.00	No comment
SOS1	100.00	No comment
SOX10	96.79	No comment
SOX2	98.05	No comment
SOX3	85.62	No comment
SOX9	97.88	No comment
SPATA7	100.00	No comment
SPECC1L	100.00	No comment
SPG11	100.00	No comment
SPRED1	100.00	No comment
SPRY4	100.00	No comment
SPTAN1	100.00	No comment
SRD5A2	100.00	No comment
SRD5A3	99.42	No comment
SRY	39.13	No comment
STAC3	100.00	No comment
STAMBP	100.00	No comment
STAT3	100.00	No comment
STS	100.00	No comment
STXBP1	100.00	No comment
SUFU	100.00	No comment
SUMO1	99.91	No comment
SYNE1	100.00	No comment
TACR3	100.00	No comment
TAF2	100.00	No comment
WWTR1	99.81	No comment
TBC1D20	93.59	No comment
TBX1	77.39	No comment
TBX15	100.00	No comment
TBX22	100.00	No comment
TBX3	99.88	No comment
TBX4	94.32	No comment
TBX5	100.00	No comment
TBX6	100.00	No comment
TBXT	100.00	No comment
TCF4	100.00	No comment
TCOF1	99.99	No comment
TCTN1	93.78	No comment
TCTN2	100.00	No comment
TCTN3	100.00	No comment
TECPR2	100.00	No comment
TFAP2A	100.00	No comment
TGFB3	100.00	No comment
TGFBR1	92.91	No comment
TGFBR2	100.00	No comment
TGIF1	100.00	No comment
TMCO1	100.00	No comment
TMEM138	100.00	No comment
TMEM216	100.00	No comment
TMEM231	100.00	No comment
TMEM237	99.97	No comment
TMEM67	100.00	No comment
TMEM70	100.00	No comment
TNNI2	100.00	No comment
TNNT3	100.00	No comment
TNXB	100.00	No comment
TP63	100.00	No comment
TPM2	100.00	No comment
TRAPPC9	99.98	No comment
TREM2	100.00	No comment
TREX1	100.00	No comment
TRIM32	100.00	No comment
TRIP11	100.00	No comment
TRPV4	100.00	No comment
TSC1	100.00	No comment
TSC2	100.00	No comment
TSEN34	100.00	No comment
TSEN54	94.23	No comment
TSPYL1	100.00	No comment
TTC8	100.00	No comment
TUBA1A	100.00	No comment
TUBA8	100.00	No comment
TUBB2B	100.00	No comment
TUBB3	98.24	No comment
TUBGCP6	100.00	No comment
TULP1	100.00	No comment
TWIST1	70.93	No comment
TYR	100.00	No comment
TYROBP	100.00	No comment
UBA1	100.00	No comment
UBB	100.00	No comment
UBE3A	100.00	No comment
UBE3B	100.00	No comment
UFD1	100.00	No comment
UPF3B	100.00	No comment
UPK3A	99.39	No comment
UTRN	100.00	No comment
VANGL1	100.00	No comment
VANGL2	100.00	No comment
VAX1	89.49	No comment
VIPAS39	100.00	No comment
VPS13B	99.25	No comment
VPS33B	100.00	No comment
VSX2	100.00	No comment
VTI1A	100.00	No comment
WASHC5	100.00	No comment
WDPCP	100.00	No comment
WDR11	100.00	No comment
WDR19	100.00	No comment
DYNC2I2	93.01	No comment
WDR35	100.00	No comment
DYNC2I1	99.86	No comment
WDR62	100.00	No comment
WDR81	99.97	No comment
WNT10B	98.99	No comment
WNT3	100.00	No comment
WNT4	92.22	No comment
WNT5A	99.97	No comment
WNT7A	100.00	No comment
WT1	96.46	No comment
WWOX	100.00	No comment
ZBTB18	100.00	No comment
ZDHHC9	100.00	No comment
ZEB2	100.00	No comment
ZFPM2	99.96	No comment
ZFYVE26	100.00	No comment
ZIC1	100.00	No comment
ZIC2	80.54	No comment
ZMPSTE24	100.00	No comment
ZNF423	100.00	No comment
ZNF469	99.70	No comment

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

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 (166 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACADVL	0.00	No value for column 2
ACTA1	0.00	No value for column 2
AGRN	0.00	No value for column 2
ALDOA	0.00	No value for column 2
ALG14	0.00	No value for column 2
ALG2	99.94	No comment
ALS2	100.00	No comment
ANG	100.00	No comment
ANO5	100.00	No comment
ASAH1	99.94	No comment
ATP7A	100.00	No comment
ATXN2	89.10	No comment
B3GALNT2	85.88	No comment
B4GAT1	100.00	No comment
BAG3	100.00	No comment
BICD2	100.00	No comment
BIN1	100.00	No comment
BSCL2	100.00	No comment
C9ORF72	100.00	No comment
CAV3	100.00	No comment
CFL2	99.75	No comment
CHAT	100.00	No comment
CHKB	99.69	No comment
CHRNA1	100.00	No comment
CHRNB1	100.00	No comment
CHRND	100.00	No comment
CHRNE	100.00	No comment
CHRNG	100.00	No comment
COL6A1	100.00	No comment
COL6A2	100.00	No comment
COL6A3	100.00	No comment
COLQ	100.00	No comment
CPT2	98.71	No comment
CRPPA	95.75	No comment
CRYAB	100.00	No comment
DAG1	100.00	No comment
DAO	100.00	No comment
DCTN1	100.00	No comment
DES	100.00	No comment
DGUOK	100.00	No comment
DMD	100.00	No comment
DNAJB2	100.00	No comment
DNAJB6	99.34	No comment
DNM2	99.95	No comment
DOK7	98.77	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
DYNC1H1	100.00	No comment
DYSF	100.00	No comment
ECEL1	95.92	No comment
EMD	99.84	No comment
ENO3	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
EXOSC3	100.00	No comment
FBLN5	100.00	No comment
FBXO38	100.00	No comment
FDX2	100.00	No comment
CFH	100.00	No comment
FKRP	98.68	No comment
FKTN	100.00	No comment
FLNC	100.00	No comment
FUS	100.00	No comment
GAA	100.00	No comment
GARS1	99.53	No comment
GFPT1	99.98	No comment
GLE1	100.00	No comment
GMPPB	100.00	No comment
GNE	100.00	No comment
GRN	100.00	No comment
HADHA	100.00	No comment
HADHB	100.00	No comment
HARS1	100.00	No comment
HEXB	99.82	No comment
HNRNPA1	99.61	No comment
HNRNPA2B1	100.00	No comment
HSPB1	100.00	No comment
HSPB3	100.00	No comment
HSPB8	100.00	No comment
IGHMBP2	100.00	No comment
ISCU	99.39	No comment
KBTBD13	97.91	No comment
KLHL40	100.00	No comment
KLHL9	100.00	No comment
LAMA2	100.00	No comment
LAMB2	100.00	No comment
LARGE1	100.00	No comment
LAS1L	100.00	No comment
LDB3	100.00	No comment
LMNA	99.93	No comment
LPIN1	100.00	No comment
CORIN	98.90	No comment
MATR3	100.00	No comment
MEGF10	100.00	No comment
MTM1	100.00	No comment
MUSK	100.00	No comment
MYBPC3	100.00	No comment
MYH7B	100.00	No comment
MYH3	100.00	No comment
MYH7	100.00	No comment
MYH8	100.00	No comment
MYOT	100.00	No comment
NEB	99.99	No comment
NEFH	84.73	No comment
OPTN	100.00	No comment
PABPN1	91.84	No comment
PFKM	100.00	No comment
PFN1	100.00	No comment
PGAM2	100.00	No comment
PGK1	100.00	No comment
PGM1	100.00	No comment
PHKA1	100.00	No comment
PHKB	100.00	No comment
PLEC	99.82	No comment
PLEKHG5	99.10	No comment
POLG	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	99.90	No comment
PREPL	100.00	No comment
PYGM	100.00	No comment
QDPR	99.04	No comment
RAPSN	100.00	No comment
REEP1	97.37	No comment
RXYLT1	99.84	No comment
RYR1	98.38	No comment
SCN4A	100.00	No comment
SELENON	84.04	No comment
SETX	100.00	No comment
SIGMAR1	96.60	No comment
SIL1	100.00	No comment
SLC18A3	100.00	No comment
SLC52A2	100.00	No comment
SLC52A3	100.00	No comment
SLC5A7	100.00	No comment
SMN1	96.55	No comment
SNAP25	100.00	No comment
SOD1	100.00	No comment
SQSTM1	93.68	No comment
SYT2	100.00	No comment
TAF15	100.00	No comment
TARDBP	100.00	No comment
TFG	100.00	No comment
TIA1	100.00	No comment
TNNI2	100.00	No comment
TNNT1	98.58	No comment
TNNT3	100.00	No comment
TNPO3	100.00	No comment
TPM2	100.00	No comment
TPM3	99.55	No comment
TRPV4	100.00	No comment
TSEN54	94.23	No comment
TTN	100.00	No comment
UBA1	100.00	No comment
UBQLN2	99.88	No comment
UNC13A	99.87	No comment
VAPB	100.00	No comment
VCP	98.45	No comment
VEGFA	98.73	No comment
VRK1	100.00	No comment

Neuropathy panel - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS1	99.99	1
ABCA1	99.92	1
ABHD12	99.98	1
AGTPBP1	99.68	1
AGXT	100.00	1
AHNAK2	97.58	1
AIFM1	99.92	1
AMACR	100.00	1
AP1S1	99.49	1
APOA1	100.00	1
APTX	99.92	1
AR	99.76	1
ARHGEF10	100.00	1
ARSA	99.99	1
ASAH1	99.90	1
ASCC1	90.99	1
ATAD3A	99.62	1
ATL1	99.95	1
ATL3	99.75	1
ATM	99.83	1
ATP1A1	98.41	1
ATP7A	99.87	1
B4GALNT1	99.97	1
BAG3	100.00	1
BCKDHB	99.73	1
BICD2	99.99	1
BSCL2	99.99	1
CFAP276	98.35	1
CCT5	99.99	1
CD59	100.00	1
CHCHD10	100.00	1
CNTNAP1	99.98	1
COA7	99.91	1
COX6A1	99.98	1
CPOX	99.99	1
CTDP1	99.97	1
CYP27A1	100.00	1
DARS2	98.31	1
DCAF8	99.83	1
DCTN1	99.98	1
DEGS1	99.99	1
DGAT2	99.99	1
DGUOK	99.93	1
DHTKD1	99.95	1
DNAJB2	99.97	1
DNAJC3	99.92	1
DNM2	99.99	1
DNMT1	99.13	1
DRP2	99.94	1
DST	99.52	1
DYNC1H1	99.99	1
EGR2	100.00	1
ELP1	99.96	1
ERCC6	99.60	1
ERCC8	99.79	1
ETFDH	99.82	1
EXOSC3	100.00	1
EXOSC8	99.91	1
EXOSC9	94.91	1
FANCA	99.98	1
HYCC1	99.81	1
FBLN5	100.00	1
FBXO38	99.96	1
FGD4	99.87	1
FIG4	99.83	1
FLVCR1	99.91	1
FXN	99.96	1
GALC	99.92	1
GAN	99.98	1
GARS1	99.93	1
GBA2	99.99	1
GBF1	99.97	1
GDAP1	99.98	1
GJB1	100.00	1
GJC2	100.00	1
GLA	99.90	1
GNB4	99.96	1
GNE	99.99	1
GSN	99.93	1
HADHA	99.98	1
HADHB	99.82	1
HARS1	99.96	1
HINT1	99.86	1
HK1	99.97	1
HMBS	99.97	1
HSPB1	99.97	1
HSPB3	99.97	1
HSPB8	100.00	1
IARS2	99.77	1
IGHMBP2	99.92	1
INF2	99.99	1
ITPR3	99.98	1
JAG1	100.00	1
KARS1	99.98	1
KCNA2	99.99	1
KIF1A	99.96	1
KIF1B	99.97	1
KIF26B	100.00	1
KIF5A	99.91	1
LITAF	83.22	1
LMNA	99.96	1
LRSAM1	99.99	1
LYST	99.87	1
MARS1	99.97	1
MCM3AP	99.98	1
MFN2	99.98	1
MICAL1	99.99	1
MMACHC	99.98	1
MME	97.17	1
MORC2	100.00	1
MPV17	99.98	1
MPZ	99.99	1
MTMR2	99.94	1
MTRFR	99.87	1
MTTP	99.92	1
MYH7B	99.98	1
NAGA	100.00	1
NAGLU	100.00	1
NDRG1	99.99	1
NEFH	100.00	1
NEFL	100.00	1
NGF	100.00	1
NMNAT2	99.79	1
NTRK1	99.86	1
MED12	99.95	1
OPA3	100.00	1
PDHA1	99.04	1
PDK3	99.49	1
PDYN	100.00	1
PEX10	100.00	1
PEX7	99.72	1
PHYH	100.00	1
PLEKHG5	99.99	1
PLP1	99.98	1
PMM2	99.93	1
PMP2	99.93	1
PMP22	100.00	1
PNKP	100.00	1
PNPLA6	99.99	1
POLG	100.00	1
POLG2	99.51	1
POLR3A	99.97	1
HCRT	99.85	1
PRDM12	100.00	1
PRKCG	99.99	1
PRPS1	99.95	1
PRUNE1	99.85	1
PRX	99.99	1
PTEN	99.89	1
PTPN11	99.98	1
PTRH2	99.99	1
RAB7A	100.00	1
RBM7	99.99	1
REEP1	99.97	1
RETREG1	99.99	1
SACS	99.97	1
SBF1	99.99	1
SBF2	99.77	1
SCARB2	99.99	1
SCN10A	99.99	1
SCN11A	99.94	1
SCN9A	99.83	1
SCO2	100.00	1
SCYL1	100.00	1
SEPTIN9	99.99	1
SETX	99.97	1
SGPL1	99.95	1
SH3TC2	100.00	1
SIGMAR1	99.99	1
SLC12A6	99.98	1
SLC25A19	99.99	1
SLC25A21	99.98	1
SLC25A46	99.88	1
SLC52A2	100.00	1
SLC52A3	99.94	1
SLC5A7	99.57	1
SMN1	7.60	1
SMN2	6.68	1
SORD	85.52	1
SOX10	100.00	1
SPAST	99.77	1
SPG11	99.89	1
SPG7	99.99	1
SPTAN1	99.96	1
SPTBN4	99.91	1
SPTLC1	99.74	1
SPTLC2	99.95	1
SUCLA2	99.96	1
SURF1	100.00	1
TFG	98.68	1
TRIM2	99.98	1
TRIP4	99.97	1
TRPA1	99.67	1
TRPV4	100.00	1
TTPA	99.88	1
TTR	100.00	1
TUBB3	100.00	1
TWNK	100.00	1
TYMP	99.87	1
UBA1	99.93	1
VAPB	100.00	1
VCP	99.99	1
VPS13A	99.68	1
VRK1	99.98	1
WARS1	99.97	1
WNK1	99.98	1
XK	99.98	1
XPA	99.68	1
XRCC1	99.96	1
YARS1	99.29	1
ZFYVE26	100.00	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