CREBBP | Belgian Genetic Tests database

Analyte Export to PDF
Name:	CREB binding protein
Symbol:	CREBBP
Version of Orphanet:	2022-05-01 04:55:23
Synonyms:	CBP KAT3A RTS
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	01 May 2022 - 06:55

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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	,
FAM126A	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	,
GBA	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	,
KIAA1109	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	,
SPATA5	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	,
TTC37	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
GBA	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

Congenital structural heart defects - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AATK	99.98	1
ABL1	100.00	1
ACAN	91.51	1
ACTA1	99.99	1
ACTB	100.00	1
ACTC1	98.57	1
ACTG1	100.00	1
ACTN2	99.99	1
ACVR1	99.94	1
ACVR1B	99.99	1
ACVR2A	99.15	1
ACVR2B	99.99	1
ACVRL1	99.88	1
ADAMTS10	99.99	1
ADNP	100.00	1
AKAP12	100.00	1
AKT1	100.00	1
AKT2	99.85	1
ALDH1A2	99.97	1
ALX3	99.74	1
ANKRD1	99.57	1
ANKRD11	99.85	1
AP1B1	99.99	1
APAF1	98.70	1
AR	99.76	1
ARHGAP31	100.00	1
ARID4A	99.90	1
ATP2A2	99.98	1
ATRX	99.44	1
AXIN1	100.00	1
BCOR	99.97	1
BMP10	99.96	1
BMP2	99.79	1
BMP4	100.00	1
BMP6	100.00	1
BMP7	100.00	1
BMPR1A	99.58	1
BMPR2	99.95	1
BRAF	99.78	1
BRIP1	99.39	1
BVES	99.83	1
CASQ2	94.39	1
CAV1	99.97	1
CAV3	100.00	1
CBL	99.95	1
CCDC103	99.68	1
CCDC39	99.74	1
CCDC40	100.00	1
CCDC65	99.80	1
CCN1	99.99	1
CCNO	100.00	1
CD96	99.91	1
CDK13	99.83	1
CDK4	100.00	1
CDX2	100.00	1
CENPF	99.97	1
CFAP53	99.95	1
CFC1	21.93	1
CHAC2	99.68	1
CHD4	99.99	1
CHD7	99.99	1
CHD8	99.96	1
CITED2	100.00	1
COL1A1	99.90	1
COL1A2	99.34	1
COL2A1	99.87	1
COX7B	99.86	1
CREBBP	99.97	1
CRELD1	99.99	1
CRIP2	99.99	1
CRYAB	100.00	1
CSNK1D	99.99	1
CSRP1	99.75	1
CSRP3	100.00	1
CTNNB1	99.95	1
DDX3X	99.01	1
DES	100.00	1
DIAPH3	99.85	1
DICER1	99.96	1
DLGAP5	99.83	1
DLL1	99.99	1
DLL4	100.00	1
DNAAF1	99.99	1
DNAAF11	99.80	1
DNAAF2	99.91	1
DNAAF3	99.99	1
DNAAF4	99.78	1
DNAAF5	99.99	1
DNAH11	99.93	1
DNAH5	99.98	1
DNAI1	99.92	1
DNAI2	99.86	1
DNAJB13	99.91	1
DNAH9	99.79	1
DRC1	99.93	1
DSCAM	99.99	1
DVL1	100.00	1
DYRK1A	99.98	1
E2F1	99.99	1
ECE1	99.92	1
EDNRA	99.97	1
EFEMP2	99.94	1
EFNB1	99.95	1
EFTUD2	99.93	1
EGFR	99.68	1
EGR1	99.99	1
EHMT1	98.38	1
ELN	99.86	1
ENG	100.00	1
EOGT	99.09	1
EP300	99.97	1
EPHB2	99.86	1
EPHB4	99.82	1
ERBB2	99.98	1
ERCC4	99.92	1
ESR2	99.96	1
ETS1	99.99	1
EVC	99.95	1
EVC2	99.97	1
EWSR1	99.94	1
EZH2	99.89	1
F2R	99.98	1
FABP3	99.87	1
FADD	99.97	1
FANCA	100.00	1
FANCB	99.24	1
FANCC	99.98	1
FANCD2	99.86	1
FANCE	99.99	1
FANCF	100.00	1
FANCG	100.00	1
FANCI	99.96	1
FANCL	99.67	1
FBLN1	98.69	1
FBLN7	99.95	1
FBN1	99.85	1
FBN2	99.90	1
FGF10	99.95	1
FGF8	100.00	1
FGFR1	100.00	1
FGFR2	99.99	1
FGFR3	100.00	1
FHL2	100.00	1
FIBP	99.83	1
FLII	100.00	1
FLNA	99.99	1
FLNC	99.99	1
FLT1	99.99	1
FLT4	97.93	1
FN1	99.95	1
FOXC1	100.00	1
FOXC2	100.00	1
FOXH1	100.00	1
FOXK2	99.76	1
FOXL1	100.00	1
FOXL2	99.97	1
FOXO1	100.00	1
FOXP1	99.98	1
FSCN2	100.00	1
G6PC3	99.98	1
GAS8	100.00	1
GATA2	99.99	1
GATA4	99.99	1
GATA5	100.00	1
GATA6	99.90	1
GATAD2B	99.44	1
GDF1	100.00	1
GDF11	99.97	1
GDF5	100.00	1
GDNF	99.99	1
GJA1	100.00	1
GJA5	100.00	1
GJD2	99.99	1
GLB1	100.00	1
GLI2	99.93	1
GLI3	100.00	1
GPC3	99.60	1
GPC5	99.96	1
GPC6	99.98	1
GRK5	99.97	1
GTF2I	47.18	1
GTF2IRD1	99.77	1
HAND1	99.99	1
HAND2	99.97	1
HDAC8	99.74	1
HES4	100.00	1
HEY2	99.75	1
HIF1A	99.87	1
HMGB2	99.99	1
HNF1A	100.00	1
HNF4A	100.00	1
HOXA1	100.00	1
HOXB2	99.99	1
HRAS	100.00	1
HSPB1	99.97	1
HSPB8	100.00	1
HSPG2	99.87	1
HYDIN	81.28	1
ID2	100.00	1
IGF1R	100.00	1
IGFBP4	99.85	1
IKBKB	99.93	1
ILK	100.00	1
INHBA	99.98	1
INHBC	99.99	1
INPP5D	99.98	1
INSR	99.99	1
IRS1	100.00	1
IRX4	99.99	1
ISL1	99.99	1
ITGAV	99.40	1
ITGB1	99.96	1
ITGB3	99.83	1
ITGB4	99.99	1
JAG1	100.00	1
JAM3	100.00	1
JUN	100.00	1
KANSL1	99.85	1
KAT6A	99.93	1
KAT6B	99.79	1
KDM3B	99.98	1
KDM5A	99.90	1
KDM5B	97.15	1
KDM6A	99.74	1
KDR	99.86	1
KIT	99.86	1
KMT2D	99.98	1
KRAS	99.13	1
KREMEN1	99.88	1
LAMA2	99.95	1
LAMA5	99.99	1
LAMC1	99.55	1
LBR	99.66	1
LEFTY1	99.98	1
LEFTY2	100.00	1
LHX3	99.99	1
LMNA	99.96	1
LMX1B	100.00	1
LRP2	99.86	1
LTBP1	99.95	1
LTBP3	99.96	1
LZTR1	99.46	1
MAFG	100.00	1
MAP2K1	99.98	1
MAP2K2	99.99	1
MAPK14	99.95	1
MCTP2	99.99	1
MECOM	99.97	1
MED13L	99.99	1
MEF2C	99.57	1
MEGF8	99.90	1
MESP1	100.00	1
MET	99.97	1
METTL3	99.98	1
MGP	99.95	1
MID1	99.90	1
MITF	99.98	1
MMP2	99.96	1
MMP21	99.99	1
MSX1	100.00	1
MTHFD1	100.00	1
MTHFR	99.97	1
MTRR	99.98	1
MYBPC3	99.98	1
MYC	100.00	1
MYH10	99.91	1
MYH11	99.16	1
MYH6	100.00	1
MYH7	99.99	1
MYH9	99.95	1
MYL2	99.99	1
MYL3	99.99	1
MYL7	99.95	1
MYOCD	99.99	1
MYOM1	99.98	1
MYOZ2	99.99	1
NF1	99.88	1
NFATC1	100.00	1
NFIX	99.99	1
NFKB1	99.80	1
NID2	99.97	1
NIPBL	99.34	1
NKX2-1	100.00	1
NKX2-5	99.75	1
NKX2-6	100.00	1
NME8	99.83	1
NNMT	100.00	1
NODAL	99.98	1
NONO	99.94	1
NOS3	93.73	1
NOTCH1	99.98	1
NOTCH2	99.03	1
NOTCH3	99.99	1
NPHP3	99.89	1
NPHP4	99.98	1
NPPA	100.00	1
NR2F2	100.00	1
NR4A2	99.97	1
NRAS	99.66	1
NRP1	99.99	1
NRP2	99.98	1
NSD1	99.98	1
ODAD1	96.04	1
ODAD2	98.19	1
ODAD3	99.96	1
ODAD4	99.85	1
OTX2	100.00	1
PACS1	99.96	1
PAX3	100.00	1
PCSK5	99.97	1
PDGFC	99.97	1
PDGFRA	99.94	1
PDGFRB	99.99	1
PDHX	100.00	1
PIGA	99.81	1
PIGL	99.98	1
PIGN	99.91	1
PIGT	99.95	1
PITX2	99.98	1
PKD1L1	99.84	1
PLAGL1	99.96	1
PLAT	99.99	1
POU5F1	100.00	1
PPARG	99.96	1
PPARGC1A	99.82	1
PPP3CA	99.84	1
PRKACA	99.95	1
PRKD1	99.96	1
PROX1	99.98	1
PRRX1	99.56	1
PSEN1	100.00	1
PSEN2	99.97	1
PTEN	99.89	1
PTK2	99.97	1
PTP4A3	99.99	1
PTPN11	99.98	1
PUF60	100.00	1
RAB23	99.97	1
RAD21	99.91	1
RAD51C	99.02	1
RAF1	99.97	1
RAI1	99.22	1
RAI2	99.98	1
RARB	99.99	1
RARG	99.98	1
RB1	99.84	1
RBBP7	99.87	1
RBL2	99.44	1
RBM10	99.98	1
RBM8A	99.37	1
RELA	99.99	1
RERE	99.94	1
RET	99.97	1
RGS19	99.88	1
RIT1	99.78	1
RNF20	99.93	1
ROR2	99.99	1
RPGR	94.45	1
RPL11	99.81	1
RPL15	31.77	1
RPL26	30.55	1
RPL35A	97.55	1
RPL5	28.81	1
RPS10	0.00	1
RPS17	100.00	1
RPS19	100.00	1
RPS24	91.48	1
RPS26	8.99	1
RPS28	100.00	1
RPS29	99.96	1
RPS7	88.50	1
RSPH1	99.87	1
RSPH3	99.94	1
RSPH4A	99.95	1
RSPH9	99.99	1
RYR2	99.94	1
SALL1	100.00	1
SALL4	100.00	1
SCN5A	100.00	1
SESN1	99.95	1
SF3B4	99.65	1
SGCA	100.00	1
SH3PXD2B	100.00	1
SHH	100.00	1
SHOC2	99.96	1
HHAT	99.98	1
SLC19A1	99.99	1
SLC25A4	100.00	1
SLC2A10	100.00	1
SLX4	100.00	1
SMAD2	99.92	1
SMAD3	99.99	1
SMAD4	99.97	1
SMAD6	100.00	1
SMARCE1	99.87	1
SMC1A	99.98	1
SMC3	99.91	1
SMG9	99.99	1
SOS1	99.68	1
SOS2	99.39	1
SOX2	100.00	1
SOX4	99.36	1
SP1	99.98	1
SPAG1	99.78	1
SPATC1L	99.99	1
SPECC1L	99.98	1
SRCAP	99.99	1
SRF	99.99	1
STAT3	99.97	1
STRA6	99.95	1
SUZ12	98.58	1
TAB2	99.75	1
TBX1	99.95	1
TBX2	99.97	1
TBX20	99.99	1
TBX3	100.00	1
TBX5	99.98	1
TBX6	99.99	1
TCAP	100.00	1
TCF21	100.00	1
TCF3	100.00	1
TCN2	100.00	1
TDGF1	99.82	1
TEAD1	99.97	1
TEK	99.98	1
TFAP2A	100.00	1
TFAP2B	99.98	1
TFAP2C	100.00	1
TGFB1	100.00	1
TGFB2	99.87	1
TGFB3	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
TGIF1	100.00	1
THBS1	100.00	1
THBS4	100.00	1
THOC5	99.90	1
THRB	99.82	1
DDR2	97.39	1
TLL1	99.94	1
TNFRSF11A	100.00	1
TNFRSF1A	100.00	1
TNNI3	100.00	1
TNNT2	99.87	1
TNR	99.80	1
TP53	99.98	1
TP73	100.00	1
TPM1	99.92	1
TRPM2	99.99	1
TSR2	99.96	1
TTN	99.15	1
TWIST1	100.00	1
UBE2B	99.94	1
UBE2T	99.89	1
USP44	99.86	1
USP9X	99.84	1
VCAN	99.99	1
VDR	99.86	1
VEGFA	99.99	1
VEGFC	99.96	1
WASHC5	99.98	1
WDR5	100.00	1
WNT11	100.00	1
WT1	99.99	1
YY1	100.00	1
ZEB2	99.97	1
ZFHX3	99.96	1
ZFPM2	100.00	1
ZIC3	99.90	1
ZMYND10	99.99	1

Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	100.00
AAGAB	97.88
ABCA12	100.00
ABCB6	100.00
ABCC6	99.97
ABHD5	100.00
ACD	100.00
ADAM10	100.00
ADAMTS2	95.82
ADAR	100.00
AIM1	100.00
AKT1	100.00
ALDH18A1	100.00
ALDH3A2	99.94
ALOX12B	100.00
ALOXE3	100.00
ANTXR1	100.00
AP1S1	100.00
AP3B1	100.00
APCDD1	99.97
AQP5	99.87
ARHGAP31	100.00
ARSL	99.95
ASAH1	100.00
ATM	100.00
ATP2A2	100.00
ATP2C1	100.00
ATP6V0A2	99.98
ATP6V1A	100.00
ATP6V1E1	99.99
ATP7A	100.00
AXIN2	100.00
B3GALT6	63.11
B4GALT7	90.91
BANF1	97.55
BCS1L	100.00
BLM	100.00
BLOC1S3	95.69
BLOC1S6	100.00
BRAF	96.86
LRMDA	100.00
KDF1	100.00
CARD14	99.96
CBL	100.00
CBS	99.92
CD151	99.99
CDH3	100.00
CDK4	100.00
CDKN1B	100.00
CDKN2A	99.69
CDSN	99.93
CERS3	100.00
CHST14	99.81
CHST8	100.00
CHUK	99.59
CLCF1	100.00
CLDN1	100.00
CLDN10	100.00
COG6	100.00
COL11A1	100.00
COL12A1	100.00
COL17A1	100.00
COL1A1	100.00
COL1A2	99.41
COL3A1	99.99
COL5A1	98.23
COL5A2	100.00
COL7A1	100.00
CREBBP	99.98
CRLF1	89.67
CSTA	100.00
CTC1	99.71
CTSC	100.00
CYLD	100.00
CYP26C1	97.30
CYP4F22	99.27
DDB2	100.00
DIP2B	99.71
DKC1	99.92
DLL4	100.00
DLX3	99.95
DNMT1	99.69
DOCK6	99.13
DOLK	100.00
DSC3	98.96
DSE	100.00
DSG1	100.00
DSG2	99.89
DSG4	100.00
DSP	100.00
DST	100.00
DTNBP1	99.96
GLB1	100.00
ECM1	100.00
EDA	99.05
EDAR	100.00
EDARADD	100.00
EDN3	99.95
EDNRB	100.00
EFEMP2	100.00
ELN	99.96
ELOVL4	100.00
ENPP1	97.25
EOGT	100.00
EP300	100.00
EPG5	99.99
ERCC2	99.35
ERCC3	100.00
ERCC4	99.99
ERCC5	100.00
ERCC6	100.00
ERCC8	100.00
EVC	94.53
EVC2	98.69
EXPH5	100.00
F12	99.81
FAM111B	100.00
RETREG1	93.87
FAM83G	100.00
FBLN5	100.00
FBN1	100.00
FBN2	100.00
FERMT1	99.96
FGFR2	100.00
FGFR3	99.36
FH	100.00
FKBP14	100.00
FLCN	100.00
FGFR1	100.00
FLG2	100.00
FOXN1	100.00
FZD6	100.00
GALNT3	100.00
GAN	98.95
GBA	100.00
GGCX	99.91
GHR	99.21
GJA1	100.00
GJB2	100.00
GJB3	100.00
GJB4	100.00
GJB6	100.00
GLA	100.00
GNAS	100.00
GORAB	100.00
GPR143	89.17
GRHL2	100.00
GSN	97.95
GTF2E2	100.00
GTF2H5	100.00
HAMP	100.00
HCCS	100.00
HDAC8	99.82
HFE	100.00
HJV	100.00
HGD	100.00
HLCS	100.00
HOXC13	96.56
HPGD	99.87
HPS1	100.00
HPS3	99.99
HPS4	99.99
HPS5	100.00
HPS6	96.32
HR	99.78
HRAS	100.00
IFT122	99.99
IFT43	100.00
ELP1	100.00
IKBKG	96.27
IL31RA	100.00
INSR	96.81
ITGA3	99.99
ITGA6	100.00
ITGB4	98.77
JUP	100.00
KANK2	99.99
KCNH1	100.00
KCTD1	100.00
KDM6A	99.63
KDSR	99.98
KIF1A	99.07
KIT	99.98
KITLG	100.00
KL	96.52
KLHL24	100.00
KLLN	100.00
KMT2D	99.99
KRAS	100.00
KREMEN1	92.10
KRT1	99.80
KRT10	99.93
KRT14	100.00
KRT16	99.48
KRT17	92.10
KRT2	100.00
KRT5	100.00
KRT6A	100.00
KRT6B	100.00
KRT6C	99.44
KRT71	99.95
KRT74	99.99
KRT81	100.00
KRT83	99.99
KRT85	99.27
KRT86	99.98
KRT9	100.00
LAMA4	99.75
LAMB3	100.00
LAMC2	99.43
LEMD3	99.97
LIPH	100.00
LIPN	100.00
LMNA	99.52
LMX1B	99.55
LORICRIN	100.00
LPAR6	100.00
LRP1	100.00
LTBP4	99.49
LYST	100.00
LZTR1	99.92
MAP2K1	100.00
MAP2K2	99.99
MAPRE2	100.00
MBTPS2	100.00
MC1R	100.00
MEN1	99.83
MITF	100.00
MLH1	99.99
MLPH	100.00
MMP1	99.99
MMP2	99.93
MPDU1	100.00
MPLKIP	100.00
MSH2	100.00
MSH6	99.92
MSMO1	100.00
MSX1	99.53
MUTYH	100.00
MYO5A	99.78
NF1	98.85
NF2	99.97
NFKBIA	99.97
NGF	100.00
NHP2	100.00
NIPAL4	100.00
NIPBL	99.62
RMRP	100.00
NOP10	100.00
NOTCH1	98.81
NRAS	100.00
NSDHL	100.00
NTRK1	98.91
OCA2	99.73
OFD1	97.68
ORAI1	93.55
OSMR	100.00
PADI3	100.00
PARN	100.00
PAX3	100.00
PDGFRB	100.00
PEX7	96.12
PHYH	99.87
PIGL	100.00
PIK3CA	100.00
PKP1	100.00
PLCD1	99.74
PLEC	99.33
PLOD1	98.77
PLOD3	99.97
PMS2	98.83
PNPLA1	99.66
POFUT1	99.99
POGLUT1	100.00
POLD1	99.84
POLH	100.00
NT5C3A	100.00
PORCN	99.13
PPP1CB	100.00
PRDM12	83.27
PRDM5	100.00
PRKAR1A	100.00
PRKD1	97.12
PSAT1	99.73
PSENEN	100.00
PTCH1	99.03
PTCH2	100.00
PTDSS1	100.00
PTEN	99.64
PTPN11	94.81
NECTIN1	99.68
NECTIN4	99.41
PYCR1	100.00
RAB27A	100.00
RAD21	100.00
RAF1	100.00
RASA2	99.74
RBPJ	99.69
RECQL4	96.90
RET	96.88
RHBDF2	100.00
RIN2	100.00
RIPK4	99.98
RIT1	100.00
RNF113A	100.00
RPL21	84.30
RRAS	98.63
RSPO1	100.00
RTEL1	100.00
SASH1	99.88
SCN11A	99.99
SCN9A	99.99
SDHB	99.35
SDHD	99.95
SEC23B	100.00
SERPINB7	100.00
SERPINB8	100.00
SERPING1	97.68
SETBP1	100.00
SGPL1	100.00
SHOC2	100.00
HHAT	93.18
SKIV2L	100.00
SLC24A5	100.00
SLC27A4	99.97
SLC29A3	95.73
SLC2A10	97.06
SLC39A13	100.00
SLC39A4	100.00
SLC45A2	100.00
SLC6A19	99.99
SLURP1	100.00
SMAD3	100.00
SMARCAD1	99.97
SMARCB1	100.00
SMC3	100.00
SMPD1	100.00
SNAI2	100.00
SNAP29	100.00
SNRPE	99.04
SOS1	100.00
SOS2	99.97
SOX10	97.31
SPINK5	100.00
SPRED1	100.00
SPRY1	100.00
SPTLC1	99.44
SRD5A3	98.97
ST14	99.95
STK11	99.81
STS	99.94
SUFU	100.00
SULT2B1	100.00
SUMF1	100.00
TAT	100.00
TCHH	100.00
TERT	93.51
TFR2	100.00
TGFB2	99.97
TGFB3	100.00
TGFBR1	91.97
TGFBR2	100.00
TGM1	100.00
TGM3	100.00
TGM5	100.00
TINF2	99.96
TMC6	99.87
TNXB	100.00
TP63	100.00
TRPS1	100.00
TRPV3	99.99
TSC1	100.00
TSC2	99.99
TTC37	99.99
TUBB	100.00
TWIST2	99.15
TYR	100.00
TYRP1	100.00
UBR1	100.00
USB1	100.00
UVSSA	100.00
VPS33B	100.00
WDR19	100.00
WDR35	100.00
WNK1	100.00
WNT10A	94.15
WRAP53	100.00
WRN	100.00
XPA	97.89
XPC	100.00
ZMPSTE24	100.00
ZNF469	99.97
ZNF750	100.00
TERC	100.00	t

Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS2	99.98	1
AKR1C2	91.19	1
AKR1C4	100.00	1
AMH	100.00	1
AMHR2	99.96	1
ANOS1	99.96	1
AR	99.76	1
ARX	95.36	1
ATRX	99.44	1
AXL	99.97	1
BMP15	99.98	1
BMP4	100.00	1
BNC1	100.00	1
CBX2	100.00	1
CHD7	99.99	1
CLPP	99.99	1
CREBBP	99.97	1
CYB5A	99.98	1
CYP11A1	99.99	1
CYP11B1	100.00	1
CYP17A1	100.00	1
CYP19A1	99.99	1
CYP21A2	99.85	1
DHCR7	99.97	1
DHH	100.00	1
DHX37	99.98	1
DMRT1	99.99	1
DMXL2	99.86	1
DUSP6	99.99	1
EIF4ENIF1	100.00	1
EP300	99.97	1
ESR1	100.00	1
ESR2	99.96	1
FANCM	99.83	1
FEZF1	100.00	1
FGF17	99.81	1
FGF8	100.00	1
FGF9	100.00	1
FGFR1	100.00	1
FGFR2	99.99	1
FIGLA	99.95	1
FLRT3	100.00	1
FOXL2	99.97	1
FSHB	100.00	1
FSHR	99.99	1
GATA4	99.99	1
GDF9	99.98	1
GNRH1	99.96	1
GNRHR	99.94	1
HDAC8	99.74	1
HESX1	99.77	1
HFM1	89.74	1
HHAT	99.93	1
HOXA13	99.94	1
HS6ST1	99.99	1
HSD17B3	99.77	1
HSD17B4	99.71	1
HSD3B2	100.00	1
IL17RD	99.94	1
INSL3	98.02	1
KHDRBS1	99.35	1
KISS1	99.97	1
KISS1R	100.00	1
LARS2	99.96	1
LEP	100.00	1
LEPR	92.52	1
LHB	99.93	1
LHCGR	99.94	1
LHX1	99.96	1
LHX3	99.99	1
LHX4	99.99	1
MAMLD1	99.84	1
MAP3K1	99.93	1
MCM8	98.78	1
MCM9	99.76	1
MEIOB	99.98	1
MID1	99.90	1
MRPS22	99.87	1
MSH4	89.29	1
MSH5	100.00	1
NANOS3	100.00	1
NBN	99.93	1
NOBOX	99.95	1
NR0B1	99.98	1
NR2F2	100.00	1
NR5A1	99.92	1
NSMF	100.00	1
NUP107	97.46	1
OTUD4	99.83	1
PATL2	99.99	1
PCSK1	99.99	1
PNPLA6	99.99	1
POF1B	99.34	1
POLR2C	99.99	1
POLR3A	99.97	1
PORCN	99.98	1
PROK2	98.65	1
PROKR2	100.00	1
PROP1	99.88	1
PSMC3IP	99.82	1
RNF216	99.99	1
RSPO1	99.99	1
RXFP2	99.99	1
SEMA3A	99.42	1
SEMA7A	99.90	1
SOHLH1	100.00	1
SOHLH2	100.00	1
SOX10	100.00	1
SOX2	100.00	1
SOX3	100.00	1
SOX8	99.99	1
SOX9	100.00	1
SPIDR	99.96	1
SPRY4	100.00	1
SRD5A2	100.00	1
SRY	51.98	1
STAG3	98.99	1
GUCY2C	99.97	1
SYCE1	99.99	1
TAC3	99.94	1
TACR3	99.99	1
TP63	99.97	1
TSPYL1	100.00	1
TWNK	100.00	1
WDR11	99.91	1
WNT4	99.94	1
WT1	99.99	1
WWOX	100.00	1
ZFPM2	100.00	1
ZNRF3	99.94	1

Early-onset severe obesity (44 genes) - ULG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ADCY3	100.00	only for coding exons and intronic borders +/-14pb
ALMS1	100.00	only for coding exons and intronic borders +/-14pb
BBS1	100.00	only for coding exons and intronic borders +/-14pb
BBS2	100.00	only for coding exons and intronic borders +/-14pb
ARL6	100.00	only for coding exons and intronic borders +/-14pb
BBS4	100.00	only for coding exons and intronic borders +/-14pb
BBS5	100.00	only for coding exons and intronic borders +/-14pb