EXOC6B | Belgian Genetic Tests database

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Name:	exocyst complex component 6B
Symbol:	EXOC6B
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	KIAA0919
XREF(s):	Orphanet HGNC Ensembl OMIM SwissProt Genatlas Reactome
Created:	17 Jul 2019 - 00:38
Changed:	26 Oct 2023 - 23:49

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Ciliopathy (120 genes) - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ACVR2B	99.99	0
ADAMTS9	99.94	0
AHI1	99.86	0
ALMS1	99.90	0
ANKS6	100.00	0
ARL13B	99.53	0
ARL3	99.98	0
ARL6	99.90	0
ARMC9	99.77	0
B9D1	99.80	0
B9D2	99.88	0
BBIP1	99.99	0
BBS1	100.00	0
BBS10	99.98	0
BBS12	100.00	0
BBS2	99.90	0
BBS4	99.88	0
BBS5	99.00	0
BBS7	99.42	0
BBS9	99.75	0
C2CD3	99.88	0
CBY1	100.00	0
CC2D2A	99.95	0
CCDC103	99.68	0
CCDC172	99.85	0
CCDC28B	99.99	0
CCDC32	99.97	0
CCDC39	99.74	0
CCDC40	100.00	0
CCDC65	99.80	0
CCDC96	100.00	0
CCNO	100.00	0
CENPF	99.97	0
CEP104	99.99	0
CEP120	99.90	0
CEP164	99.99	0
CEP290	98.10	0
CEP295	99.94	0
CEP41	99.99	0
CEP55	99.92	0
CEP83	98.68	0
CFAP251	99.98	0
CFAP298	99.96	0
CFAP300	99.47	0
CFAP410	100.00	0
CFAP418	100.00	0
CFAP44	99.75	0
CFAP53	99.95	0
CFAP69	99.09	0
CFC1	21.93	0
CILK1	99.69	0
CPLANE1	99.81	0
CRB2	99.95	0
CSPP1	98.31	0
DCDC2	99.96	0
DDX59	99.67	0
DEUP1	99.86	0
DHCR7	99.97	0
DLG5	99.91	0
DNAAF1	99.99	0
DNAAF11	99.80	0
DNAAF2	99.91	0
DNAAF3	99.99	0
DNAAF4	99.78	0
DNAAF5	99.99	0
DNAAF6	98.73	0
DNAH1	99.98	0
DNAH11	99.93	0
DNAH5	99.98	0
DNAH8	99.84	0
DNAI1	99.92	0
DNAI2	99.86	0
DNAJB13	99.91	0
DNAH9	99.79	0
DRC1	99.93	0
DYNC2H1	99.66	0
DYNC2I1	99.99	0
DYNC2I2	99.98	0
DYNC2LI1	99.94	0
DYNLT2B	100.00	0
EVC	99.95	0
EVC2	99.97	0
EXOC3L2	99.88	0
EXOC6B	99.41	0
EXOC8	99.99	0
EXTL3	99.99	0
FAM149B1	99.69	0
FAM166B	99.99	0
FOXF1	99.99	0
FUZ	99.99	0
GAS2L2	100.00	0
GAS8	100.00	0
GLI3	100.00	0
GLIS2	100.00	0
HNF1B	100.00	0
HYDIN	81.28	0
HYLS1	100.00	0
IFT122	99.98	0
IFT140	100.00	0
IFT172	99.98	0
IFT27	100.00	0
IFT43	99.97	0
IFT52	99.82	0
IFT74	99.71	0
IFT80	99.69	0
IFT81	94.64	0
INPP5E	99.85	0
INTS13	98.20	0
INTU	99.92	0
INVS	99.94	0
IQCB1	99.72	0
IQCE	99.77	0
KATNIP	99.13	0
KCTD3	99.75	0
KIAA0586	95.75	0
KIAA0753	100.00	0
KIF14	97.80	0
KIF3B	99.99	0
KIF7	100.00	0
LBR	99.66	0
LCA5	99.89	0
LRRC34	99.52	0
LRRC45	99.98	0
LRRC56	99.98	0
LZTFL1	100.00	0
MAPKBP1	99.98	0
MCIDAS	100.00	0
MKKS	100.00	0
MKS1	99.92	0
MMP21	99.99	0
MRE11	99.93	0
NCAPG2	99.97	0
NEK1	99.83	0
NEK9	99.96	0
NME5	99.81	0
NME8	99.83	0
NPHP1	99.05	0
NPHP3	99.89	0
NPHP4	99.98	0
OCRL	99.89	0
ODAD1	96.04	0
ODAD2	98.19	0
ODAD3	99.96	0
ODAD4	99.85	0
OFD1	99.68	0
PDE6D	99.94	0
PIBF1	99.90	0
PIK3C2A	99.92	0
PKD1	99.98	0
PKD2	99.91	0
PKHD1	99.95	0
PMFBP1	99.89	0
PMM2	99.93	0
POC1A	99.98	0
POC1B	100.00	0
RAB28	99.97	0
RPGR	94.45	0
RPGRIP1L	96.35	0
RSPH1	99.87	0
RSPH3	99.94	0
RSPH4A	99.95	0
RSPH9	99.99	0
SBDS	99.93	0
SCLT1	95.17	0
SCNM1	99.47	0
SDCCAG8	100.00	0
SLC30A7	94.71	0
SPAG1	99.78	0
STK36	99.98	0
SUFU	100.00	0
TBC1D32	99.75	0
TCTN1	99.92	0
TCTN2	99.99	0
TCTN3	99.92	0
TMEM107	100.00	0
TMEM138	100.00	0
TMEM17	99.96	0
TMEM216	99.98	0
TMEM218	99.94	0
TMEM231	88.88	0
TMEM237	99.30	0
TMEM260	99.90	0
TMEM67	99.69	0
TOGARAM1	99.93	0
TOPORS	99.99	0
TRAF3IP1	99.96	0
TRIM32	100.00	0
TTC21B	99.50	0
TTC23	99.87	0
TTC26	99.97	0
TTC6	99.77	0
TTC8	99.67	0
TUBGCP4	99.80	0
TULP1	99.99	0
TULP3	99.91	0
TXNDC15	99.78	0
VHL	100.00	0
VPS13B	99.90	0
WDPCP	99.87	0
WDR19	99.80	0
WDR35	99.92	0
XPNPEP3	99.99	0
ZFYVE19	99.99	0
ZIC3	99.90	0
ZMYND10	99.99	0
ZNF423	98.94	0
ZSWIM6	98.94	0

Early onset epileptic encephalopathy (845 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AAAS	100.00	No comment
AARS1	100.00	No comment
AARS2	99.75	No comment
AASS	100.00	No comment
ABAT	100.00	No comment
ABCB1	100.00	No comment
ABCC8	100.00	No comment
ABCD1	97.56	No comment
ACADM	99.87	No comment
ACADS	97.51	No comment
ACADSB	100.00	No comment
ACO2	100.00	No comment
ACOX1	100.00	No comment
ACSF3	99.86	No comment
ACTB	100.00	No comment
ACTG1	100.00	No comment
ACVR1	100.00	No comment
ACY1	100.00	No comment
ADAR	100.00	No comment
COQ8A	99.92	No comment
ADK	100.00	No comment
ADRA2B	100.00	No comment
ADSL	100.00	No comment
AFG3L2	94.80	No comment
AGA	100.00	No comment
AGTR2	100.00	No comment
AHI1	100.00	No comment
AIFM1	99.98	No comment
AIMP1	99.97	No comment
AKT2	100.00	No comment
AKT3	100.00	No comment
ALDH18A1	100.00	No comment
ALDH3A2	99.94	No comment
ALDH4A1	96.50	No comment
ALDH5A1	84.13	No comment
ALDH7A1	100.00	No comment
ALG1	78.28	No comment
ALG11	100.00	No comment
ALG12	100.00	No comment
ALG13	99.53	No comment
ALG2	99.83	No comment
ALG3	93.20	No comment
ALG6	100.00	No comment
ALG8	100.00	No comment
ALG9	98.18	No comment
ALMS1	99.85	No comment
AMACR	96.78	No comment
AMER1	99.97	No comment
AMT	100.00	No comment
ANKH	100.00	No comment
ANKRD11	100.00	No comment
AP3B2	98.68	No comment
AP4E1	99.99	No comment
APTX	99.96	No comment
AR	100.00	No comment
ARFGEF2	100.00	No comment
ARG1	100.00	No comment
ARHGEF15	100.00	No comment
ARHGEF9	99.92	No comment
ARID1A	97.21	No comment
ARID1B	98.17	No comment
ARL13B	99.98	No comment
ARSA	100.00	No comment
SLURP1	87.81	No comment
ARV1	100.00	No comment
ARX	88.86	No comment
ASAH1	100.00	No comment
ASL	99.96	No comment
ASNS	97.93	No comment
ASPA	100.00	No comment
ASPM	100.00	No comment
ASS1	98.12	No comment
ASXL1	99.93	No comment
ATAD1	100.00	No comment
ATIC	97.39	No comment
ATN1	99.99	No comment
ATP13A2	98.30	No comment
ATP1A2	99.94	No comment
ATP1A3	100.00	No comment
ATP2A2	100.00	No comment
ATP5F1A	99.63	No comment
ATP6AP2	98.57	No comment
ATP6V0A2	99.97	No comment
ATP7A	100.00	No comment
ATPAF2	100.00	No comment
ANTXR1	99.97	No comment
ATRX	99.89	No comment
ATXN10	98.19	No comment
ATXN2	93.25	No comment
AUH	99.24	No comment
AVPR2	99.37	No comment
B3GALNT2	92.96	No comment
B3GNT2	100.00	No comment
B4GALT1	100.00	No comment
BCAP31	99.81	No comment
BCKDHA	99.90	No comment
BCKDHB	100.00	No comment
BCKDK	100.00	No comment
BCS1L	100.00	No comment
BOLA3	80.60	No comment
BRAF	96.83	No comment
BRAT1	99.93	No comment
BRD2	94.60	No comment
BSCL2	100.00	No comment
BTD	100.00	No comment
BUB1B	100.00	No comment
TWNK	100.00	No comment
C12ORF57	100.00	No comment
MTRFR	100.00	No comment
CPLANE1	100.00	No comment
CACNA1A	99.53	No comment
CACNA1D	99.81	No comment
CACNA1G	99.97	No comment
CACNA1H	98.10	No comment
CACNA2D1	100.00	No comment
CACNA2D2	95.58	No comment
CACNB4	99.95	No comment
CAD	100.00	No comment
CARS2	98.73	No comment
KNL1	97.89	No comment
CASK	99.99	No comment
CASQ2	99.96	No comment
CASR	100.00	No comment
CBL	100.00	No comment
CBS	99.85	No comment
CC2D2A	100.00	No comment
CCBE1	99.32	No comment
CCDC88C	99.64	No comment
CCL2	100.00	No comment
CCM2	99.47	No comment
CDK5RAP2	100.00	No comment
CDKL5	99.77	No comment
CDON	100.00	No comment
CELSR1	95.69	No comment
CENPJ	100.00	No comment
CEP135	99.96	No comment
CEP152	100.00	No comment
CEP164	99.89	No comment
CEP290	100.00	No comment
CEP41	100.00	No comment
CEP63	100.00	No comment
CERS1	87.45	No comment
CHD2	100.00	No comment
CHD8	100.00	No comment
CHKB	99.75	No comment
CHMP1A	100.00	No comment
CHRNA2	99.99	No comment
CHRNA4	94.66	No comment
CHRNA7	97.02	No comment
CHRNB2	99.44	No comment
CIC	99.22	No comment
CLCN1	100.00	No comment
CLCN2	100.00	No comment
CLCN4	100.00	No comment
CLCNKA	99.99	No comment
CLCNKB	99.96	No comment
CLDN16	100.00	No comment
CLIC2	99.96	No comment
CLN3	100.00	No comment
CLN5	98.80	No comment
CLN6	100.00	No comment
CLN8	100.00	No comment
CLPP	97.95	No comment
CNKSR2	99.82	No comment
CNNM2	100.00	No comment
CNTN2	100.00	No comment
CNTNAP2	99.10	No comment
COA5	100.00	No comment
COG1	99.01	No comment
COG4	100.00	No comment
COG5	99.95	No comment
COG6	100.00	No comment
COG7	100.00	No comment
COG8	99.96	No comment
COL18A1	99.86	No comment
COL4A1	98.48	No comment
COL4A2	100.00	No comment
COQ2	99.66	No comment
COQ4	100.00	No comment
COQ6	100.00	No comment
COQ9	100.00	No comment
COX10	100.00	No comment
COX14	100.00	No comment
COX15	99.99	No comment
COX20	95.39	No comment
COX6B1	100.00	No comment
COX8A	100.00	No comment
CYP2A6	100.00	No comment
CYP21A2	100.00	No comment
CPT1A	100.00	No comment
CPT2	98.55	No comment
CRH	99.37	No comment
CRLF1	89.19	No comment
CSNK1G1	100.00	No comment
CSPP1	99.98	No comment
CSTB	98.75	No comment
CTC1	99.70	No comment
CTSA	99.94	No comment
CTSD	93.41	No comment
CTSF	90.14	No comment
CUL4B	99.51	No comment
CYP27A1	99.38	No comment
CYP27B1	99.05	No comment
D2HGDH	99.95	No comment
DARS2	100.00	No comment
DBT	100.00	No comment
DCHS1	99.86	No comment
DCX	99.94	No comment
DDC	100.00	No comment
DDOST	100.00	No comment
DDX3X	100.00	No comment
DENND5A	99.04	No comment
DEPDC5	100.00	No comment
DHCR24	98.73	No comment
DHCR7	99.97	No comment
DHFR	91.86	No comment
DIAPH1	99.95	No comment
DLD	100.00	No comment
DLGAP2	99.95	No comment
DMD	99.96	No comment
DNAJC5	100.00	No comment
DNAJC6	99.98	No comment
DNM1	93.52	No comment
DNM1L	100.00	No comment
DOCK6	99.15	No comment
DOCK7	98.80	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
DPYD	100.00	No comment
DPYS	99.47	No comment
DYNC1H1	99.92	No comment
DYRK1A	100.00	No comment
EARS2	100.00	No comment
ECM1	100.00	No comment
EEF1A2	99.08	No comment
EFHC1	100.00	No comment
EFHC2	99.79	No comment
EFTUD2	99.99	No comment
EHMT1	97.78	No comment
EIF2B1	100.00	No comment
EIF2B2	99.61	No comment
EIF2B3	98.87	No comment
EIF2B4	100.00	No comment
EIF2B5	100.00	No comment
EIF2S3	100.00	No comment
ELOVL4	100.00	No comment
ELP4	100.00	No comment
EML1	98.26	No comment
EMX2	99.97	No comment
EOMES	100.00	No comment
EPG5	100.00	No comment
EPM2A	97.21	No comment
EPRS	100.00	No comment
ERBB4	100.00	No comment
ERLIN2	100.00	No comment
ERMARD	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
ETHE1	97.84	No comment
EXOC6B	99.94	No comment
EXOSC3	100.00	No comment
EZH2	100.00	No comment
FA2H	95.71	No comment
FADD	90.35	No comment
HYCC1	100.00	No comment
FARS2	100.00	No comment
FASN	99.95	No comment
FASTKD2	100.00	No comment
FAT4	100.00	No comment
FBXL4	100.00	No comment
FGD1	99.24	No comment
FGF12	99.90	No comment
FGF8	94.19	No comment
FGFR3	99.24	No comment
FH	100.00	No comment
FKRP	100.00	No comment
FKTN	100.00	No comment
FLNA	99.75	No comment
FLVCR2	99.87	No comment
FMR1	99.99	No comment
FOLR1	100.00	No comment
FOXG1	92.10	No comment
FOXH1	100.00	No comment
FOXRED1	100.00	No comment
FRRS1L	82.37	No comment
FTL	100.00	No comment
FTO	100.00	No comment
FUCA1	99.91	No comment
GABBR2	96.91	No comment
GABRA1	100.00	No comment
GABRA3	99.59	No comment
GABRB1	99.97	No comment
GABRB2	100.00	No comment
GABRB3	100.00	No comment
GABRD	92.59	No comment
GABRG2	91.70	No comment
GAL	100.00	No comment
GALC	98.98	No comment
GALNS	94.36	No comment
GAMT	97.00	No comment
GATA3	100.00	No comment
GATA6	87.61	No comment
GATAD2B	100.00	No comment
GATM	98.74	No comment
GBA1	100.00	No comment
GCDH	100.00	No comment
GCH1	99.71	No comment
GCK	99.13	No comment
GCM2	100.00	No comment
GCSH	73.97	No comment
GFAP	100.00	No comment
GFM1	100.00	No comment
GJC2	96.72	No comment
GLA	100.00	No comment
GLB1	100.00	No comment
GLDC	97.39	No comment
GLI2	96.28	No comment
GLI3	100.00	No comment
GLRA1	100.00	No comment
GLRB	100.00	No comment
GLUD1	96.22	No comment
GLUL	100.00	No comment
GLYCTK	98.86	No comment
GM2A	100.00	No comment
GMPPB	100.00	No comment
GNAO1	100.00	No comment
GNB1	100.00	No comment
GNE	100.00	No comment
GNPTAB	99.91	No comment
GNPTG	95.92	No comment
GNS	100.00	No comment
GOSR2	100.00	No comment
GPC3	99.72	No comment
GPHN	100.00	No comment
ADGRG1	99.99	No comment
ADGRV1	100.00	No comment
GRIA3	99.99	No comment
GRIN1	99.80	No comment
GRIN2A	100.00	No comment
GRIN2B	100.00	No comment
GRIN2D	77.00	No comment
GRINA	100.00	No comment
GRN	100.00	No comment
GSS	100.00	No comment
GTPBP3	99.60	No comment
GUF1	100.00	No comment
GUSB	97.13	No comment
HACE1	98.41	No comment
HADH	100.00	No comment
HAX1	100.00	No comment
HCCS	100.00	No comment
HCFC1	99.85	No comment
HCN1	99.93	No comment
HCN4	97.56	No comment
HDAC4	99.86	No comment
HDAC8	99.75	No comment
HEPACAM	99.85	No comment
HERC2	97.66	No comment
HESX1	100.00	No comment
HEXA	100.00	No comment
HEXB	99.19	No comment
HGSNAT	94.10	No comment
HLCS	100.00	No comment
HMBS	100.00	No comment
HMGCL	100.00	No comment
HNRNPH1	100.00	No comment
HNRNPH2	100.00	No comment
HNRNPU	99.82	No comment
HPD	100.00	No comment
HRAS	100.00	No comment
HSD17B10	100.00	No comment
HSD17B4	100.00	No comment
HSPD1	95.18	No comment
HTRA2	100.00	No comment
HYAL1	100.00	No comment
IDH2	93.11	No comment
IDS	99.88	No comment
IDUA	91.86	No comment
IER3IP1	99.44	No comment
ELP1	100.00	No comment
INPP5E	99.14	No comment
INS	97.76	No comment
INSR	96.68	No comment
IQSEC2	98.53	No comment
CRPPA	95.50	No comment
ITPA	100.00	No comment
IVD	100.00	No comment
JAM3	99.88	No comment
JRK	100.00	No comment
KANSL1	100.00	No comment
KAT6B	100.00	No comment
KCNA1	100.00	No comment
KCNA2	100.00	No comment
KCNAB1	100.00	No comment
KCNB1	98.34	No comment
KCNC1	100.00	No comment
KCND2	100.00	No comment
KCNH1	100.00	No comment
KCNH2	98.15	No comment
KCNH5	100.00	No comment
KCNJ1	100.00	No comment
KCNJ10	100.00	No comment
KCNJ11	100.00	No comment
KCNK18	100.00	No comment
KCNMA1	99.93	No comment
KCNQ2	99.92	No comment
KCNQ3	98.20	No comment
KCNT1	98.96	No comment
KCNV2	100.00	No comment
KCTD7	100.00	No comment
KDM5C	99.97	No comment
KDM6A	99.72	No comment
RUBCN	96.60	No comment
KIFBP	100.00	No comment
NEXMIF	100.00	No comment
KIF11	100.00	No comment
KIF2A	99.97	No comment
KIF4A	99.86	No comment
KIF5C	100.00	No comment
KIF7	99.64	No comment
KMT2B	98.33	No comment
KMT2D	99.98	No comment
KPTN	100.00	No comment
KRAS	100.00	No comment
KRIT1	100.00	No comment
L1CAM	99.98	No comment
L2HGDH	99.75	No comment
LAMA2	100.00	No comment
LAMB1	100.00	No comment
LAMC3	98.42	No comment
LARGE1	100.00	No comment
LBR	100.00	No comment
LGI1	100.00	No comment
LIAS	100.00	No comment
LIG1	99.86	No comment
LIG4	100.00	No comment
LMBRD1	100.00	No comment
LMNB2	95.84	No comment
LRFN1	99.79	No comment
LRFN2	100.00	No comment
LRFN3	99.92	No comment
LRFN4	98.83	No comment
LRFN5	100.00	No comment
LRP2	99.71	No comment
LRPPRC	98.80	No comment
MAGI2	94.89	No comment
MAGT1	100.00	No comment
MAN1B1	99.81	No comment
MAP2K1	100.00	No comment
MAP2K2	99.99	No comment
MAPK10	100.00	No comment
MBD5	100.00	No comment
MBOAT7	99.93	No comment
MBTPS2	100.00	No comment
MCCC1	99.77	No comment
MCOLN1	95.75	No comment
MCPH1	99.70	No comment
MDH2	94.63	No comment
ME2	100.00	No comment
MECP2	96.46	No comment
MED12	99.98	No comment
MED17	100.00	No comment
MEF2C	100.00	No comment
MFF	100.00	No comment
MFSD8	100.00	No comment
MGAT2	100.00	No comment
MGME1	100.00	No comment
MLC1	98.57	No comment
MLYCD	96.09	No comment
MMACHC	100.00	No comment
MMADHC	100.00	No comment
MOCS1	99.94	No comment
MOCS2	100.00	No comment
MOGS	98.86	No comment
MPDU1	100.00	No comment
MPDZ	100.00	No comment
MPI	100.00	No comment
MSX2	100.00	No comment
MTHFR	100.00	No comment
MTOR	100.00	No comment
MTR	100.00	No comment
MTRR	100.00	No comment
MMUT	99.99	No comment
MYO5A	99.67	No comment
NAA10	96.95	No comment
NACC1	100.00	No comment
NAGA	100.00	No comment
NAGLU	96.69	No comment
NALCN	100.00	No comment
NARS2	99.88	No comment
NDE1	100.00	No comment
NDP	100.00	No comment
NDUFA1	100.00	No comment
NDUFA10	96.45	No comment
NDUFA11	80.54	No comment
NDUFA12	100.00	No comment
NDUFA2	100.00	No comment
NDUFA9	100.00	No comment
NDUFAF1	100.00	No comment
NDUFAF2	100.00	No comment
NDUFAF3	100.00	No comment
NDUFAF4	99.26	No comment
NDUFAF5	99.96	No comment
NDUFAF6	95.61	No comment
NDUFB3	98.57	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS3	100.00	No comment
NDUFS4	99.96	No comment
NDUFS6	100.00	No comment
NDUFS7	93.34	No comment
NDUFS8	100.00	No comment
NDUFV1	99.62	No comment
NDUFV2	100.00	No comment
NECAP1	100.00	No comment
NEDD4L	98.66	No comment
NEU1	100.00	No comment
NF1	98.78	No comment
NFIX	94.60	No comment
NGLY1	99.96	No comment
NHEJ1	100.00	No comment
NHLRC1	96.01	No comment
NIN	100.00	No comment
NIPA2	100.00	No comment
NIPBL	99.48	No comment
NLGN4X	100.00	No comment
NLGN4Y	60.20	No comment
NODAL	99.87	No comment
NOTCH3	93.46	No comment
NPC1	97.50	No comment
NPC2	100.00	No comment
NPHP1	100.00	No comment
NPRL2	100.00	No comment
NPRL3	100.00	No comment
NRAS	100.00	No comment
NRXN1	99.87	No comment
NSD1	100.00	No comment
NSDHL	100.00	No comment
NUBPL	99.92	No comment
OCLN	100.00	No comment
OCRL	98.81	No comment
OFD1	97.13	No comment
OPHN1	99.94	No comment
OTC	99.17	No comment
OTX2	100.00	No comment
PACS2	99.96	No comment
PAFAH1B1	100.00	No comment
PAH	100.00	No comment
PAK3	98.75	No comment
PANK2	100.00	No comment
PAX6	100.00	No comment
PODXL	100.00	No comment
PCBD1	85.60	No comment
PCCA	99.94	No comment
PCCB	99.54	No comment
PCDH19	98.99	No comment
PCNT	99.88	No comment
PDCD10	100.00	No comment
PDE6D	100.00	No comment
PDGFB	97.18	No comment
PDGFRB	99.98	No comment
PDHA1	92.64	No comment
PDHX	100.00	No comment
PDP1	100.00	No comment
PDSS1	85.11	No comment
PDSS2	100.00	No comment
PET100	100.00	No comment
PEX1	100.00	No comment
PEX10	87.10	No comment
PEX11B	100.00	No comment
PEX12	100.00	No comment
PEX13	100.00	No comment
PEX14	99.31	No comment
PEX16	99.97	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	99.74	No comment
PEX7	95.60	No comment
PGAP2	100.00	No comment
PGAP3	98.48	No comment
PGK1	99.88	No comment
PGM1	100.00	No comment
PHF6	100.00	No comment
PHGDH	100.00	No comment
PIGA	98.95	No comment
PIGL	100.00	No comment
PIGM	100.00	No comment
PIGN	100.00	No comment
PIGO	100.00	No comment
PIGP	100.00	No comment
PIGQ	100.00	No comment
PIGT	100.00	No comment
PIGV	100.00	No comment
PIK3AP1	99.71	No comment
PIK3CA	100.00	No comment
PIK3R2	88.52	No comment
PLA2G6	100.00	No comment
PLCB1	100.00	No comment
PLP1	100.00	No comment
PMM2	100.00	No comment
PNKP	99.84	No comment
PNPO	100.00	No comment
POLG	100.00	No comment
POLG2	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
POMC	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
PPFIA1	100.00	No comment
PPFIA2	100.00	No comment
PPFIA3	96.20	No comment
PPFIA4	100.00	No comment
PPFIBP1	100.00	No comment
PPFIBP2	100.00	No comment
PPP2R2C	99.91	No comment
PPT1	100.00	No comment
PQBP1	99.91	No comment
PRDM8	88.36	No comment
PRF1	100.00	No comment
PRICKLE1	100.00	No comment
PRICKLE2	100.00	No comment
PRODH	88.26	No comment
PLPBP	99.89	No comment
PRRT2	100.00	No comment
PSAP	100.00	No comment
PSAT1	99.61	No comment
PSPH	100.00	No comment
PTCH1	98.82	No comment
PTEN	99.45	No comment
PTH	100.00	No comment
PTPN11	94.43	No comment
PTS	99.91	No comment
PURA	95.47	No comment
QARS1	100.00	No comment
QDPR	98.39	No comment
RAB18	99.99	No comment
RAB27A	100.00	No comment
RAB39B	100.00	No comment
RAB3GAP1	100.00	No comment
RAB3GAP2	100.00	No comment
RAD21	100.00	No comment
RAF1	100.00	No comment
RAI1	93.59	No comment
RANBP2	95.47	No comment
RANGAP1	100.00	No comment
RARS2	100.00	No comment
RBBP8	99.97	No comment
RBFOX1	98.87	No comment
RBFOX3	98.41	No comment
RELN	100.00	No comment
RFT1	99.87	No comment
RGMA	100.00	No comment
RHOBTB2	100.00	No comment
RNASEH2A	100.00	No comment
RNASEH2B	94.58	No comment
RNASEH2C	100.00	No comment
RNASET2	100.00	No comment
ROGDI	91.40	No comment
RORB	100.00	No comment
RPGRIP1L	96.40	No comment
RPIA	99.96	No comment
RRM2B	100.00	No comment
RTTN	99.98	No comment
RYR3	100.00	No comment
SAMHD1	100.00	No comment
SATB2	99.34	No comment
SCARB2	99.99	No comment
SCN10A	100.00	No comment
SCN1A	100.00	No comment
SCN1B	87.40	No comment
SCN2A	100.00	No comment
SCN2B	100.00	No comment
SCN3A	100.00	No comment
SCN3B	100.00	No comment
SCN4A	100.00	No comment
SCN4B	100.00	No comment
SCN5A	100.00	No comment
SCN8A	100.00	No comment
SCN9A	99.99	No comment
SCO2	93.85	No comment
SDHA	95.31	No comment
SDHAF1	90.31	No comment
SEPSECS	99.57	No comment
SERPINI1	100.00	No comment
SETBP1	100.00	No comment
SETD5	100.00	No comment
SGSH	99.85	No comment
SHANK3	90.31	No comment
SHH	99.47	No comment
SHOC2	100.00	No comment
SHROOM4	99.98	No comment
SIK1	100.00	No comment
SIX3	99.61	No comment
SLC12A5	99.86	No comment
SLC12A6	100.00	No comment
SLC13A5	100.00	No comment
SLC16A1	100.00	No comment
SLC16A2	99.97	No comment
SLC17A5	100.00	No comment
SLC19A3	99.90	No comment
SLC1A2	100.00	No comment
SLC1A3	100.00	No comment
SLC20A2	100.00	No comment
SLC25A1	98.83	No comment
SLC25A12	100.00	No comment
SLC25A15	100.00	No comment
SLC25A19	100.00	No comment
SLC25A20	100.00	No comment
SLC25A22	100.00	No comment
SLC2A1	100.00	No comment
SLC2A2	99.95	No comment
SLC35A1	100.00	No comment
SLC35A2	100.00	No comment
SLC35A3	100.00	No comment
SLC35C1	100.00	No comment
SLC3A2	90.78	No comment
SLC46A1	99.98	No comment
SLC4A10	99.99	No comment
SLC6A1	100.00	No comment
SLC6A19	99.98	No comment
SLC6A5	100.00	No comment
SLC6A8	99.41	No comment
SLC6A9	100.00	No comment
SLC9A6	99.66	No comment
SLC9A9	100.00	No comment
SMARCA1	98.12	No comment
SMARCA2	98.99	No comment
SMARCA4	100.00	No comment
SMARCB1	100.00	No comment
SMARCE1	98.46	No comment
SMC1A	99.87	No comment
SMC3	100.00	No comment
SMPD1	100.00	No comment
SNAP25	100.00	No comment
SNAP29	100.00	No comment
SNIP1	100.00	No comment
SOS1	100.00	No comment
SOX10	95.36	No comment
SOX2	95.35	No comment
SPRED1	100.00	No comment
SPTAN1	100.00	No comment
SRD5A3	98.61	No comment
SRGAP3	100.00	No comment
SRPX2	99.04	No comment
ST3GAL3	100.00	No comment
ST3GAL5	90.70	No comment
STAMBP	100.00	No comment
STIL	100.00	No comment
STRADA	100.00	No comment
STX1B	99.96	No comment
STXBP1	100.00	No comment
SUCLA2	99.86	No comment
SUCLG1	93.27	No comment
SUMF1	100.00	No comment
SUOX	100.00	No comment
SURF1	82.91	No comment
SYN1	96.00	No comment
SYNGAP1	99.76	No comment
SYNJ1	99.72	No comment
SYP	97.84	No comment
SZT2	99.99	No comment
TACO1	99.66	No comment
TBC1D20	95.06	No comment
TBC1D24	99.99	No comment
TBCE	100.00	No comment
TBL1XR1	100.00	No comment
TBX1	83.55	No comment
TCF4	100.00	No comment
TCF7L2	100.00	No comment
TCTN1	100.00	No comment
TCTN2	100.00	No comment
TCTN3	100.00	No comment
TGIF1	100.00	No comment
TK2	100.00	No comment
TMEM138	100.00	No comment
TMEM165	91.64	No comment
TMEM216	99.87	No comment
TMEM231	100.00	No comment
TMEM237	99.85	No comment
RXYLT1	100.00	No comment
TMEM67	99.95	No comment
TMEM70	100.00	No comment
TNK2	99.86	No comment
ACD	99.99	No comment
TRAK1	100.00	No comment
TREM2	100.00	No comment
TREX1	100.00	No comment
TRPM6	100.00	No comment
TSC1	100.00	No comment
TSC2	99.94	No comment
TSEN2	100.00	No comment
TSEN34	100.00	No comment
TSEN54	91.60	No comment
TTC21B	100.00	No comment
TTN	100.00	No comment
TTR	100.00	No comment
TUBA1A	100.00	No comment
TUBA8	99.98	No comment
TUBB2A	100.00	No comment
TUBB2B	100.00	No comment
TUBB3	99.01	No comment
TUBB4A	100.00	No comment
TUBG1	100.00	No comment
TUSC3	100.00	No comment
TYROBP	100.00	No comment
UBA5	100.00	No comment
UBE2A	100.00	No comment
UBE3A	100.00	No comment
UBR5	100.00	No comment
UPB1	100.00	No comment
VANGL1	100.00	No comment
VARS1	100.00	No comment
VDAC1	95.12	No comment
VLDLR	96.00	No comment
VPS13A	100.00	No comment
VPS13B	100.00	No comment
VPS53	100.00	No comment
VRK1	100.00	No comment
WDR45	100.00	No comment
WDR45B	99.94	No comment
WDR62	100.00	No comment
WFS1	100.00	No comment
WWOX	100.00	No comment
XK	99.44	No comment
YWHAG	100.00	No comment
ZBTB18	99.54	No comment
ZC4H2	100.00	No comment
ZDHHC9	100.00	No comment
ZEB2	99.96	No comment
ZIC2	95.66	No comment
ZNF335	100.00	No comment
ZNF423	100.00	No comment

Epilepsy gene panel - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AAAS	100.00	No comment
AARS1	100.00	No comment
AASS	100.00	No comment
ABAT	100.00	No comment
ABCB1	100.00	No comment
ABCC8	99.81	No comment
ABCD1	99.93	No comment
ACADM	99.94	No comment
ACADS	99.48	No comment
ACADSB	100.00	No comment
ACO2	100.00	No comment
ACOX1	100.00	No comment
ACSF3	100.00	No comment
ACTB	100.00	No comment
ACTG1	100.00	No comment
ACVR1	100.00	No comment
ACY1	100.00	No comment
ADAR	100.00	No comment
ADGRG1	100.00	No comment
ADGRV1	100.00	No comment
ADK	100.00	No comment
ADRA2B	100.00	No comment
ADSL	100.00	No comment
AFG3L2	95.05	No comment
AGA	100.00	No comment
AGTR2	100.00	No comment
AHI1	100.00	No comment
AIFM1	100.00	No comment
AIMP1	100.00	No comment
AKT2	100.00	No comment
AKT3	100.00	No comment
ALDH18A1	100.00	No comment
ALDH3A2	99.95	No comment
ALDH4A1	97.15	No comment
ALDH5A1	83.59	No comment
ALDH7A1	100.00	No comment
ALG1	92.65	No comment
ALG11	100.00	No comment
ALG12	100.00	No comment
ALG13	99.96	No comment
ALG2	99.94	No comment
ALG3	99.22	No comment
ALG6	100.00	No comment
ALG8	95.91	No comment
ALG9	98.65	No comment
ALMS1	100.00	No comment
AMACR	99.83	No comment
AMER1	100.00	No comment
AMT	99.94	No comment
ANKH	100.00	No comment
ANKRD11	100.00	No comment
AP3B2	99.73	No comment
AP4E1	100.00	No comment
APTX	100.00	No comment
AR	99.29	No comment
ARFGEF2	100.00	No comment
ARG1	100.00	No comment
ARHGEF15	100.00	No comment
ARHGEF9	100.00	No comment
ARID1A	94.64	No comment
ARID1B	92.99	No comment
ARL13B	100.00	No comment
ARSA	100.00	No comment
SLURP1	85.73	No comment
ARX	78.98	No comment
ASAH1	99.94	No comment
ASL	100.00	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
ATIC	99.06	No comment
ATN1	100.00	No comment
ATP1A2	100.00	No comment
ATP1A3	100.00	No comment
ATP2A2	100.00	No comment
ATP5F1A	100.00	No comment
ATP6AP2	99.95	No comment
ATP6V0A2	100.00	No comment
ATP7A	100.00	No comment
ATPAF2	100.00	No comment
ANTXR1	100.00	No comment
ATRX	100.00	No comment
ATXN10	99.48	No comment
AUH	96.44	No comment
AVPR2	100.00	No comment
B3GALNT2	85.88	No comment
B3GNT2	100.00	No comment
B4GALT1	100.00	No comment
B4GAT1	100.00	No comment
BCAP31	100.00	No comment
BCKDHA	100.00	No comment
BCKDHB	100.00	No comment
BCKDK	100.00	No comment
BCS1L	100.00	No comment
BOLA3	84.43	No comment
BRAF	96.97	No comment
BRAT1	100.00	No comment
BRD2	95.47	No comment
BTD	100.00	No comment
BUB1B	100.00	No comment
C12ORF57	100.00	No comment
MTRFR	100.00	No comment
CACNA1A	98.78	No comment
CACNA1D	100.00	No comment
CACNA1H	97.35	No comment
CACNA2D1	100.00	No comment
CACNA2D2	94.87	No comment
CACNB4	100.00	No comment
CAMK2B	99.93	No comment
CASK	100.00	No comment
CASQ2	100.00	No comment
CASR	100.00	No comment
CBL	100.00	No comment
CBS	100.00	No comment
CC2D2A	98.16	No comment
CCBE1	99.97	No comment
CCDC88C	99.92	No comment
CCL2	100.00	No comment
CCM2	99.98	No comment
CDK5RAP2	100.00	No comment
CDKL5	100.00	No comment
CDON	100.00	No comment
CELSR1	93.72	No comment
CENPJ	100.00	No comment
CEP135	100.00	No comment
CEP152	100.00	No comment
CEP164	100.00	No comment
CEP290	99.99	No comment
CEP41	100.00	No comment
CEP63	95.17	No comment
CERS1	77.89	No comment
CHD2	100.00	No comment
CHD8	100.00	No comment
CHKB	99.69	No comment
CHMP1A	100.00	No comment
CHRNA2	100.00	No comment
CHRNA4	97.18	No comment
CHRNA7	97.88	No comment
CHRNB2	99.92	No comment
CLCN1	100.00	No comment
CLCN2	100.00	No comment
CLCN4	100.00	No comment
CLCNKA	100.00	No comment
CLCNKB	100.00	No comment
CLDN16	100.00	No comment
CLIC2	100.00	No comment
CLN3	100.00	No comment
CLN5	99.94	No comment
CLN6	90.35	No comment
CLN8	100.00	No comment
CLPP	100.00	No comment
CNTN2	100.00	No comment
CNTNAP2	99.85	No comment
COA5	100.00	No comment
COG1	99.24	No comment
COG4	100.00	No comment
COG5	100.00	No comment
COG6	100.00	No comment
COG7	100.00	No comment
COG8	100.00	No comment
COL18A1	97.80	No comment
COL4A1	98.71	No comment
COL4A2	100.00	No comment
COQ2	97.15	No comment
COQ6	100.00	No comment
COQ8A	100.00	No comment
COQ9	99.99	No comment
COX10	100.00	No comment
COX14	100.00	No comment
COX15	100.00	No comment
COX20	98.72	No comment
COX6B1	100.00	No comment
CYP2A6	100.00	No comment
CPLANE1	100.00	No comment
CYP21A2	100.00	No comment
CPT2	98.71	No comment
CRH	100.00	No comment
CRLF1	89.81	No comment
CRPPA	95.75	No comment
CSNK1G1	100.00	No comment
CSPP1	100.00	No comment
CSTB	99.03	No comment
CTC1	100.00	No comment
CTSA	100.00	No comment
CTSD	99.45	No comment
CTSF	87.32	No comment
CUL4B	100.00	No comment
CYP27A1	99.68	No comment
CYP27B1	99.96	No comment
D2HGDH	100.00	No comment
DBT	100.00	No comment
DCHS1	99.64	No comment
DCX	100.00	No comment
DDC	100.00	No comment
DDOST	100.00	No comment
DEPDC5	99.62	No comment
DHCR24	99.96	No comment
DHCR7	100.00	No comment
DHDDS	100.00	No comment
DHFR	99.48	No comment
DLD	100.00	No comment
DLGAP2	100.00	No comment
DMD	100.00	No comment
DNAJC5	100.00	No comment
DNAJC6	100.00	No comment
DNM1	94.44	No comment
DOCK6	99.12	No comment
DOCK7	99.17	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
DPYD	100.00	No comment
DPYS	99.91	No comment
DYNC1H1	100.00	No comment
DYRK1A	100.00	No comment
EARS2	100.00	No comment
ECM1	100.00	No comment
EEF1A2	99.76	No comment
EFHC1	100.00	No comment
EFHC2	100.00	No comment
EFTUD2	100.00	No comment
EHMT1	98.85	No comment
EIF2B1	100.00	No comment
EIF2B2	100.00	No comment
EIF2B3	100.00	No comment
EIF2B4	100.00	No comment
EIF2B5	100.00	No comment
ELOVL4	100.00	No comment
ELP1	100.00	No comment
ELP4	92.12	No comment
EMX2	100.00	No comment
EOMES	98.56	No comment
EPG5	100.00	No comment
EPM2A	85.54	No comment
ERLIN2	100.00	No comment
ERMARD	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
ETHE1	99.88	No comment
EXOC6B	100.00	No comment
EXOSC3	100.00	No comment
EZH2	100.00	No comment
FA2H	92.06	No comment
FADD	92.08	No comment
HYCC1	100.00	No comment
FARS2	100.00	No comment
FASTKD2	100.00	No comment
FAT4	100.00	No comment
FBXL4	100.00	No comment
FGD1	99.39	No comment
FGF8	94.82	No comment
FGFR3	99.26	No comment
FH	100.00	No comment
FKRP	98.68	No comment
FKTN	100.00	No comment
FLNA	100.00	No comment
FLVCR2	100.00	No comment
FMR1	100.00	No comment
FOLR1	100.00	No comment
FOXG1	85.88	No comment
FOXH1	100.00	No comment
FTO	100.00	No comment
FUCA1	100.00	No comment
GABBR2	95.78	No comment
GABRA1	100.00	No comment
GABRB2	100.00	No comment
GABRB3	99.79	No comment
GABRD	94.04	No comment
GABRG2	92.03	No comment
GAL	100.00	No comment
GALC	98.44	No comment
GALNS	96.18	No comment
GAMT	98.60	No comment
GATA3	100.00	No comment
GATA6	81.11	No comment
GATM	99.26	No comment
GBA1	100.00	No comment
GCDH	100.00	No comment
GCH1	96.30	No comment
GCK	100.00	No comment
GCM2	100.00	No comment
GCSH	76.04	No comment
GFAP	100.00	No comment
GFM1	100.00	No comment
GJC2	81.91	No comment
GLA	100.00	No comment
GLB1	100.00	No comment
GLDC	96.53	No comment
GLI2	95.11	No comment
GLI3	100.00	No comment
GLRA1	100.00	No comment
GLRB	100.00	No comment
GLUD1	99.45	No comment
GLUL	100.00	No comment
GLYCTK	100.00	No comment
GM2A	100.00	No comment
GMPPB	100.00	No comment
GNAO1	100.00	No comment
GNE	100.00	No comment
GNPTAB	100.00	No comment
GNPTG	94.69	No comment
GNS	100.00	No comment
GOSR2	100.00	No comment
GPC3	100.00	No comment
GPHN	100.00	No comment
GRIA3	100.00	No comment
GRIN1	99.97	No comment
GRIN2A	100.00	No comment
GRIN2B	100.00	No comment
GRINA	100.00	No comment
GRN	100.00	No comment
GTPBP3	100.00	No comment
GUSB	100.00	No comment
HADH	100.00	No comment
HAX1	100.00	No comment
HCCS	100.00	No comment
HCFC1	100.00	No comment
HCN1	95.88	No comment
HCN4	92.35	No comment
HDAC4	100.00	No comment
HDAC8	100.00	No comment
HEPACAM	96.82	No comment
HERC2	99.62	No comment
HESX1	100.00	No comment
HEXA	100.00	No comment
HEXB	99.82	No comment
HGSNAT	93.95	No comment
HLCS	100.00	No comment
HMBS	100.00	No comment
HNRNPU	99.54	No comment
HPD	100.00	No comment
HRAS	100.00	No comment
HSD17B10	100.00	No comment
HSD17B4	100.00	No comment
HSPD1	99.53	No comment
HYAL1	100.00	No comment
IDH2	92.01	No comment
IDS	100.00	No comment
IDUA	88.67	No comment
IER3IP1	99.93	No comment
INPP5E	99.54	No comment
INS	100.00	No comment
INSR	97.31	No comment
IQSEC2	99.73	No comment
IVD	100.00	No comment
JAM3	100.00	No comment
JRK	100.00	No comment
KANSL1	100.00	No comment
KAT6A	100.00	No comment
KAT6B	100.00	No comment
KCNA1	100.00	No comment
KCNA2	100.00	No comment
KCNAB1	100.00	No comment
KCNB1	99.89	No comment
KCNC1	100.00	No comment
KCND2	100.00	No comment
KCNH1	100.00	No comment
KCNH2	94.44	No comment
KCNH5	100.00	No comment
KCNJ1	100.00	No comment
KCNJ10	100.00	No comment
KCNJ11	100.00	No comment
KCNK18	100.00	No comment
KCNMA1	99.94	No comment
KCNQ2	99.98	No comment
KCNQ3	96.44	No comment
KCNT1	99.74	No comment
KCNV2	100.00	No comment
KCTD7	97.35	No comment
KDM5C	100.00	No comment
KDM6A	100.00	No comment
KIF11	100.00	No comment
KIFBP	100.00	No comment
KIF2A	98.88	No comment
KIF4A	100.00	No comment
KIF5C	100.00	No comment
KIF7	96.94	No comment
KMT2B	97.12	No comment
KMT2D	100.00	No comment
KNL1	98.62	No comment
KPTN	100.00	No comment
KRAS	100.00	No comment
KRIT1	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
LGI1	100.00	No comment
LIAS	100.00	No comment
LIG1	100.00	No comment
LIG4	100.00	No comment
LMBRD1	100.00	No comment
LRFN1	100.00	No comment
LRFN2	100.00	No comment
LRFN3	99.97	No comment
LRFN4	100.00	No comment
LRFN5	100.00	No comment
LRP2	99.96	No comment
LRPPRC	99.14	No comment
MAGI2	92.73	No comment
MAGT1	100.00	No comment
MAN1B1	99.99	No comment
MAP2K1	100.00	No comment
MAP2K2	99.98	No comment
MAPK10	100.00	No comment
MBD5	100.00	No comment
MBTPS2	100.00	No comment
MCCC1	100.00	No comment
MCOLN1	97.27	No comment
MCPH1	100.00	No comment
ME2	100.00	No comment
MECP2	98.28	No comment
MED12	100.00	No comment
MED17	100.00	No comment
MEF2C	100.00	No comment
MFSD8	100.00	No comment
MGAT2	100.00	No comment
MGME1	100.00	No comment
MLC1	100.00	No comment
MLYCD	85.50	No comment
MMACHC	100.00	No comment
MMADHC	100.00	No comment
MMUT	100.00	No comment
MOCS1	99.95	No comment
MOCS2	100.00	No comment
MOGS	98.73	No comment
MPDU1	100.00	No comment
MPDZ	100.00	No comment
MPI	100.00	No comment
MSX2	100.00	No comment
MTHFR	100.00	No comment
MTOR	100.00	No comment
MTR	100.00	No comment
MTRR	100.00	No comment
MYO5A	99.60	No comment
NAA10	96.03	No comment
NAGA	100.00	No comment
NAGLU	87.38	No comment
NALCN	100.00	No comment
NDE1	100.00	No comment
NDP	100.00	No comment
NDUFA1	100.00	No comment
NDUFA10	95.87	No comment
NDUFA11	98.06	No comment
NDUFA12	100.00	No comment
NDUFA2	100.00	No comment
NDUFA9	100.00	No comment
NDUFAF1	100.00	No comment
NDUFAF2	100.00	No comment
NDUFAF3	100.00	No comment
NDUFAF4	100.00	No comment
NDUFAF5	100.00	No comment
NDUFAF6	93.73	No comment
NDUFB3	100.00	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS3	100.00	No comment
NDUFS4	100.00	No comment
NDUFS6	100.00	No comment
NDUFS7	99.49	No comment
NDUFS8	100.00	No comment
NDUFV1	100.00	No comment
NDUFV2	100.00	No comment
NECAP1	100.00	No comment
NEDD4L	100.00	No comment
NEU1	100.00	No comment
NEXMIF	100.00	No comment
NF1	99.95	No comment
NFIX	97.15	No comment
NGLY1	99.98	No comment
NHEJ1	100.00	No comment
NHLRC1	99.73	No comment
NIN	100.00	No comment
NIPA2	100.00	No comment
NIPBL	99.98	No comment
NLGN4X	100.00	No comment
NLGN4Y	55.32	No comment
NODAL	99.99	No comment
NOTCH3	92.99	No comment
NPC1	98.40	No comment
NPC2	100.00	No comment
NPHP1	100.00	No comment
NPRL2	100.00	No comment
NPRL3	100.00	No comment
NRAS	100.00	No comment
NRXN1	98.52	No comment
NSD1	100.00	No comment
NSDHL	100.00	No comment
NTRK2	100.00	No comment
NUBPL	100.00	No comment
NUS1	100.00	No comment
OCLN	100.00	No comment
OCRL	99.77	No comment
OFD1	99.88	No comment
OPHN1	100.00	No comment
OTC	100.00	No comment
OTX2	100.00	No comment
PAFAH1B1	100.00	No comment
PAH	99.94	No comment
PAK3	100.00	No comment
PANK2	98.60	No comment
PAX6	100.00	No comment
PODXL	100.00	No comment
PCBD1	92.74	No comment
PCDH19	99.91	No comment
PCNT	100.00	No comment
PDCD10	100.00	No comment
PDE6D	100.00	No comment
PDGFB	99.77	No comment
PDGFRB	100.00	No comment
PDHA1	98.17	No comment
PDHX	99.87	No comment
PDP1	100.00	No comment
PDSS1	86.24	No comment
PDSS2	100.00	No comment
PET100	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
PGAP2	100.00	No comment
PGAP3	99.90	No comment
PGK1	100.00	No comment
PGM1	100.00	No comment
PHF6	100.00	No comment
PHGDH	100.00	No comment
PIGA	100.00	No comment
PIGL	100.00	No comment
PIGM	100.00	No comment
PIGN	100.00	No comment
PIGO	100.00	No comment
PIGQ	100.00	No comment
PIGV	100.00	No comment
PIK3AP1	99.56	No comment
PIK3CA	100.00	No comment
PIK3R2	89.19	No comment
PLA2G6	100.00	No comment
PLCB1	100.00	No comment
PLP1	100.00	No comment
PMM2	100.00	No comment
PNKP	100.00	No comment
PNPO	100.00	No comment
POLG	100.00	No comment
POLG2	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
POMC	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
PPFIA1	100.00	No comment
PPFIA2	100.00	No comment
PPFIA3	98.81	No comment
PPFIA4	100.00	No comment
PPFIBP1	100.00	No comment
PPFIBP2	100.00	No comment
PPP2R2C	100.00	No comment
PPT1	100.00	No comment
PQBP1	100.00	No comment
PRF1	100.00	No comment
PRICKLE1	100.00	No comment
PRICKLE2	100.00	No comment
PRODH	86.43	No comment
PRRT2	100.00	No comment
PSAP	100.00	No comment
PSAT1	100.00	No comment
PTCH1	98.48	No comment
PTEN	98.86	No comment
PTH	100.00	No comment
PTPN11	98.80	No comment
PTS	100.00	No comment
PURA	85.32	No comment
QARS1	100.00	No comment
QDPR	99.04	No comment
RAB18	100.00	No comment
RAB27A	100.00	No comment
RAB39B	100.00	No comment
RAB3GAP1	100.00	No comment
RAB3GAP2	100.00	No comment
RAD21	100.00	No comment
RAF1	100.00	No comment
RAI1	96.06	No comment
RANGAP1	100.00	No comment
RARS2	100.00	No comment
RBBP8	100.00	No comment
RBFOX1	99.94	No comment
RBFOX3	99.96	No comment
RELN	99.96	No comment
RFT1	100.00	No comment
RGMA	99.10	No comment
RHOBTB2	100.00	No comment
RNASEH2A	100.00	No comment
RNASEH2B	95.67	No comment
RNASEH2C	100.00	No comment
RNASET2	99.98	No comment
ROGDI	91.80	No comment
RORB	100.00	No comment
RPGRIP1L	96.45	No comment
RPIA	100.00	No comment
RRM2B	100.00	No comment
RTTN	100.00	No comment
RUBCN	97.68	No comment
RXYLT1	99.84	No comment
RYR3	100.00	No comment
SAMHD1	100.00	No comment
SATB2	100.00	No comment
SCARB2	100.00	No comment
SCN10A	100.00	No comment
SCN1A	100.00	No comment
SCN1B	94.12	No comment
SCN2A	100.00	No comment
SCN2B	100.00	No comment
SCN3A	100.00	No comment
SCN3B	100.00	No comment
SCN4A	100.00	No comment
SCN4B	100.00	No comment
SCN5A	100.00	No comment
SCN8A	100.00	No comment
SCN9A	100.00	No comment
SCO2	100.00	No comment
SDHA	98.02	No comment
SDHAF1	96.03	No comment
SEPSECS	99.97	No comment
SERPINI1	100.00	No comment
SETBP1	99.99	No comment
SGSH	99.99	No comment
SHANK3	83.99	No comment
SHH	92.83	No comment
SHOC2	100.00	No comment
SHROOM4	100.00	No comment
SIK1	100.00	No comment
SIX3	99.59	No comment
SLC12A5	100.00	No comment
SLC12A6	100.00	No comment
SLC13A5	100.00	No comment
SLC16A1	100.00	No comment
SLC16A2	100.00	No comment
SLC17A5	100.00	No comment
SLC19A3	100.00	No comment
SLC1A3	100.00	No comment
SLC20A2	100.00	No comment
SLC25A1	93.77	No comment
SLC25A12	100.00	No comment
SLC25A15	100.00	No comment
SLC25A19	100.00	No comment
SLC25A20	100.00	No comment
SLC25A22	100.00	No comment
SLC2A1	99.94	No comment
SLC2A2	100.00	No comment
SLC35A1	100.00	No comment
SLC35A2	100.00	No comment
SLC35C1	100.00	No comment
SLC3A2	88.97	No comment
SLC46A1	99.95	No comment
SLC4A10	100.00	No comment
SLC6A1	100.00	No comment
SLC6A5	100.00	No comment
SLC6A8	98.78	No comment
SLC9A6	99.96	No comment
SLC9A9	100.00	No comment
SMARCA1	99.59	No comment
SMARCA2	98.07	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
SMPD1	100.00	No comment
SNAP25	100.00	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
SPRED1	100.00	No comment
SPTAN1	100.00	No comment
SRD5A3	99.42	No comment
SRGAP3	100.00	No comment
SRPX2	100.00	No comment
ST3GAL3	100.00	No comment
ST3GAL5	92.64	No comment
STAMBP	100.00	No comment
STIL	100.00	No comment
STRADA	100.00	No comment
STX1B	100.00	No comment
STXBP1	100.00	No comment
SUCLA2	100.00	No comment
SUCLG1	95.74	No comment
SUMF1	100.00	No comment
SUOX	100.00	No comment
SURF1	87.74	No comment
SYN1	95.92	No comment
SYNGAP1	100.00	No comment
SYNJ1	99.96	No comment
SYP	99.27	No comment
SZT2	100.00	No comment
TACO1	99.90	No comment
TBC1D20	93.59	No comment
TBC1D24	100.00	No comment
TBCE	100.00	No comment
TBX1	77.39	No comment
TCF4	100.00	No comment
TCTN1	93.78	No comment
TCTN2	100.00	No comment
TCTN3	100.00	No comment
TGIF1	100.00	No comment
TK2	95.90	No comment
TMEM138	100.00	No comment
TMEM165	89.91	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
TNK2	100.00	No comment
ACD	100.00	No comment
TREM2	100.00	No comment
TREX1	100.00	No comment
TRPM6	100.00	No comment
TSC1	100.00	No comment
TSC2	100.00	No comment
TSEN2	100.00	No comment
TSEN34	100.00	No comment
TSEN54	94.23	No comment
TTC21B	100.00	No comment
TTR	100.00	No comment
TUBA1A	100.00	No comment
TUBA8	100.00	No comment
TUBB2A	99.99	No comment
TUBB2B	100.00	No comment
TUBB3	98.24	No comment
TUBB4A	99.85	No comment
TUBG1	100.00	No comment
TUSC3	100.00	No comment
TWNK	100.00	No comment
TYROBP	100.00	No comment
UBE2A	99.62	No comment
UBE3A	100.00	No comment
UBR5	100.00	No comment
UPB1	100.00	No comment
VANGL1	100.00	No comment
VARS2	100.00	No comment
VDAC1	99.21	No comment
VLDLR	96.53	No comment
VPS13A	100.00	No comment
VPS13B	99.25	No comment
VPS53	100.00	No comment
VRK1	100.00	No comment
WDR45	100.00	No comment
WDR62	100.00	No comment
WFS1	100.00	No comment
WWOX	100.00	No comment
XK	100.00	No comment
ZBTB18	100.00	No comment
ZC4H2	100.00	No comment
ZDHHC9	100.00	No comment
ZEB2	100.00	No comment
ZIC2	80.54	No comment
ZNF335	100.00	No comment

Skeletal dysplasia (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ALPL	100.00	1
ALX3	100.00	1
ARID1A	99.99	1
B3GALT6	92.42	1
CDC73	99.98	1
COL11A1	99.99	1
COL9A2	100.00	1
CTSK	100.00	1
DDR2	100.00	1
DHCR24	100.00	1
DVL1	100.00	1
FAM20B	100.00	1
FUCA1	100.00	1
GNAI3	99.99	1
GNPAT	99.96	1
GORAB	99.99	1
HHAT	100.00	1
HS2ST1	99.93	1
HSPG2	99.99	1
IARS2	100.00	1
LBR	99.99	1
LMNA	100.00	1
NLRP3	100.00	1
NMNAT1	95.03	1
NOTCH2	100.00	1
NRAS	99.97	1
ORC1	100.00	1
P3H1	100.00	1
PHGDH	100.00	1
PIGV	100.00	1
PLOD1	100.00	1
POLR3GL	100.00	1
PRKACB	100.00	1
PRRX1	100.00	1
RBM8A	100.00	1
SDCCAG8	99.99	1
SF3B4	100.00	1
SKI	100.00	1
SLC25A24	99.30	1
SLC35D1	99.68	1
TBCE	100.00	1
TBX15	100.00	1
TGFB2	100.00	1
TMCO1	99.91	1
TMEM53	100.00	1
ZMPSTE24	99.99	1
CHST3	100.00	1
DNA2	99.99	1
FBXW4	98.98	1
FGFR2	100.00	1
KAT6B	100.00	1
KIF5B	99.93	1
PAPSS2	99.93	1
POLR3A	100.00	1
SLC29A3	100.00	1
SMC3	99.98	1
TCTN3	100.00	1
ALG9	94.06	1
ALX4	100.00	1
ANO5	100.00	1
ARCN1	100.00	1
B3GAT3	94.88	1
BANF1	100.00	1
BBS1	100.00	1
C2CD3	99.99	1
CDKN1C	100.00	1
CREB3L1	100.00	1
CYP2R1	98.84	1
DPAGT1	100.00	1
DYNC2H1	99.84	1
EED	100.00	1
EXT2	100.00	1
FAM111A	100.00	1
FAR1	99.98	1
FERMT3	100.00	1
HRAS	100.00	1
IFITM5	100.00	1
INPPL1	99.93	1
LRP4	100.00	1
LRP5	100.00	1
LTBP3	100.00	1
MMP13	99.99	1
NADSYN1	100.00	1
PIK3C2A	99.99	1
PLCB3	100.00	1
RASGRP2	100.00	1
SERPINH1	100.00	1
SLC39A13	100.00	1
TCIRG1	100.00	1
TMEM138	100.00	1
TMEM216	100.00	1
ABCC9	99.99	1
ALX1	100.00	1
ATP6V0A2	100.00	1
BBS10	100.00	1
CEP290	99.84	1
CHST11	100.00	1
COL2A1	100.00	1
CYP27B1	100.00	1
FGF23	100.00	1
GDF3	100.00	1
GNPTAB	100.00	1
GNS	100.00	1
IFT81	94.63	1
LEMD3	100.00	1
MAPKAPK5	100.00	1
MGP	100.00	1
PDE3A	100.00	1
PEX5	100.00	1
POLE	100.00	1
POLR3B	99.98	1
PTHLH	100.00	1
PTPN11	99.98	1
RFLNA	99.50	1
SP7	100.00	1
TBX3	100.00	1
TBX5	100.00	1
TCTN1	94.52	1
TCTN2	99.95	1
TRPV4	100.00	1
VDR	99.44	1
VPS33A	95.74	1
WNT1	100.00	1
WNT10B	100.00	1
FGF9	99.98	1
GPC6	100.00	1
KL	98.69	1
POLR1D	99.94	1
TGDS	99.99	1
TNFSF11	100.00	1
AKT1	100.00	1
GNPNAT1	99.99	1
GSC	100.00	1
IFT43	100.00	1
KIAA0586	95.70	1
LTBP2	100.00	1
MMP14	100.00	1
SEC23A	99.98	1
SIX1	100.00	1
SMOC1	100.00	1
SRP54	99.97	1
TGFB3	100.00	1
LYSET	100.00	1
TRIP11	99.98	1
TTC8	99.96	1
ACAN	98.67	1
ADAMTS17	98.97	1
BBS4	100.00	1
CEP152	99.99	1
CHST14	99.49	1
CHSY1	99.98	1
DLL4	100.00	1
EFL1	100.00	1
FBN1	100.00	1
FMN1	100.00	1
GREM1	100.00	1
IDH2	99.93	1
KIF7	99.98	1
LRRK1	100.00	1
MAP2K1	100.00	1
MESD	100.00	1
MESP2	100.00	1
PPIB	100.00	1
SMAD3	100.00	1
SMAD6	100.00	1
TCF12	100.00	1
ANKRD11	100.00	1
BBS2	100.00	1
CBFB	100.00	1
CDH3	100.00	1
CDK10	100.00	1
CDT1	99.07	1
CLCN7	99.78	1
COG4	100.00	1
CREBBP	100.00	1
DHODH	100.00	1
GALNS	100.00	1
GINS2	100.00	1
GNPTG	99.45	1
IFT140	100.00	1
KIF22	100.00	1
MBTPS1	100.00	1
MMP2	100.00	1
ORC6	99.99	1
PAM16	100.00	1
PRMT7	99.99	1
RPGRIP1L	98.82	1
RPL13	100.00	1
RSPRY1	100.00	1
SALL1	100.00	1
TBC1D24	100.00	1
TBX6	100.00	1
TMEM231	100.00	1
TRAF7	100.00	1
VAC14	100.00	1
XYLT1	98.81	1
ACTG1	100.00	1
BHLHA9	99.55	1
CANT1	99.97	1
CDC6	100.00	1
COG1	100.00	1
COL1A1	100.00	1
DLX3	100.00	1
EFTUD2	100.00	1
EIF4A3	99.99	1
FKBP10	100.00	1
FZD2	100.00	1
HES7	100.00	1
KCNJ2	100.00	1
KIAA0753	100.00	1
MEOX1	100.00	1
MKS1	100.00	1
MYH3	100.00	1
NAGLU	99.96	1
NF1	99.98	1
NOG	100.00	1
NXN	100.00	1
P4HB	100.00	1
PLEKHM1	100.00	1
PRKAR1A	100.00	1
PYCR1	100.00	1
SERPINF1	100.00	1
SGSH	100.00	1
SMARCE1	99.97	1
SOST	100.00	1
SOX9	100.00	1
SUZ12	99.97	1
TBX4	99.45	1
WNT3	100.00	1
XYLT2	100.00	1
DYM	99.99	1
LPIN2	99.99	1
RBBP8	99.96	1
SMAD2	100.00	1
SMAD4	100.00	1
SMCHD1	99.97	1
TNFRSF11A	97.91	1
ACP5	100.00	1
ADAMTS10	100.00	1
AKT2	100.00	1
APC2	99.99	1
B9D2	100.00	1
CCDC8	100.00	1
COMP	100.00	1
DLL3	99.85	1
DOCK6	100.00	1
EPS15L1	100.00	1
ERF	100.00	1
FUZ	100.00	1
GPX4	96.50	1
LONP1	100.00	1
MAN2B1	100.00	1
MEGF8	99.96	1
NFIX	99.97	1
PRKACA	100.00	1
SMARCA4	100.00	1
TGFB1	100.00	1
TYROBP	100.00	1
UBA2	99.97	1
ACVR1	100.00	1
AFF3	100.00	1
AGPS	99.76	1
ANAPC1	99.82	1
ARHGAP25	100.00	1
BBS5	99.97	1
CKAP2L	100.00	1
COLEC11	100.00	1
CRIPT	100.00	1
CYP26B1	100.00	1
DNMT3A	100.00	1
DYNC2LI1	100.00	1
EIF2AK3	99.96	1
EN1	100.00	1
EXOC6B	99.77	1
FN1	100.00	1
FOSL2	100.00	1
GALNT3	99.99	1
GLI2	100.00	1
HAAO	100.00	1
HDAC4	100.00	1
HOXD13	100.00	1
IDH1	100.00	1
IFIH1	99.99	1
IFT172	100.00	1
IHH	100.00	1
IL1RN	100.00	1
KYNU	99.99	1
LTBP1	100.00	1
MAP3K20	100.00	1
MATN3	99.95	1
MTX2	99.95	1
MYCN	99.97	1
NBAS	100.00	1
NPPC	100.00	1
OBSL1	99.99	1
ORC4	100.00	1
PAX3	100.00	1
PKDCC	99.76	1
POLR1A	100.00	1
POLR1B	100.00	1
SIX2	100.00	1
SMARCAL1	100.00	1
TMEM237	99.98	1
TRAF3IP1	100.00	1
TTC21B	99.97	1
WDPCP	91.91	1
WDR35	99.99	1
WNT6	100.00	1
ASXL1	100.00	1
BMP2	99.98	1
COL9A3	100.00	1
CTSA	100.00	1
DDRGK1	100.00	1
DPM1	97.07	1
ELMO2	100.00	1
GDF5	100.00	1
GNAS	100.00	1
GZF1	100.00	1
IFT52	100.00	1
LAMA5	99.87	1
MAFB	100.00	1
MKKS	99.98	1
MMP9	100.00	1
PLCB4	100.00	1
SALL4	100.00	1
SNRPB	100.00	1
CFAP410	100.00	1
DONSON	99.81	1
PCNT	100.00	1
ALG12	100.00	1
CCDC134	100.00	1
CDC45	100.00	1
EP300	100.00	1
FBLN1	99.89	1
MCM5	100.00	1
MYO18B	100.00	1
PISD	100.00	1
SMARCB1	100.00	1
SPECC1L	100.00	1
ALG3	100.00	1
ARHGAP31	100.00	1
ARL6	100.00	1
ATR	99.98	1
CASR	100.00	1
COPB2	100.00	1
CRTAP	99.90	1
DVL3	100.00	1
DYNLT2B	100.00	1
EOGT	99.99	1
FLNB	100.00	1
GLB1	100.00	1
HYAL1	100.00	1
IFT122	100.00	1
IFT80	99.94	1
LMOD3	100.00	1
MASP1	100.00	1
MECOM	100.00	1
NEPRO	99.99	1
PCYT1A	100.00	1
PIK3CA	99.97	1
PLOD2	99.95	1
POC1A	100.00	1
PTH1R	100.00	1
SETD2	99.99	1
SLCO2A1	100.00	1
SUMF1	100.00	1
TGFBR2	100.00	1
THPO	100.00	1
TOP2B	99.85	1
TP63	99.99	1
TRAIP	100.00	1
WNT5A	100.00	1
WNT7A	100.00	1
ZIC1	100.00	1
AGA	100.00	1
ANTXR2	100.00	1
BBS12	100.00	1
BBS7	99.97	1
BMPR1B	100.00	1
CC2D2A	98.21	1
CENPE	99.92	1
DMP1	100.00	1
DSPP	100.00	1
EDNRA	100.00	1
EVC	96.08	1
EVC2	100.00	1
FGFR3	100.00	1
HPGD	99.99	1
IDUA	99.84	1
INTU	100.00	1
MAB21L2	100.00	1
MANBA	99.99	1
NEK1	99.99	1
NKX3-2	100.00	1
PRKG2	99.98	1
RAB33B	100.00	1
RBPJ	100.00	1
SEC24D	100.00	1
SGMS2	100.00	1
SH3BP2	98.03	1
SLC10A7	100.00	1
TAPT1	98.76	1
TMEM165	99.97	1
UFSP2	99.99	1
WDR19	99.94	1
ANKH	100.00	1
ARSB	99.92	1
ARSK	99.98	1
B4GALT7	99.95	1
BNIP1	100.00	1
CEP120	99.96	1
CPLANE1	99.97	1
CSF1R	100.00	1
DNAJC21	100.00	1
FBN2	99.99	1
FGF10	100.00	1
HSPA9	100.00	1
IL6ST	99.99	1
KIAA0825	99.99	1
LIFR	99.94	1
MSX2	100.00	1
NIPBL	99.91	1
NPR3	100.00	1
NSD1	100.00	1
PDE4D	99.99	1
PDGFRB	100.00	1
PITX1	100.00	1
SH3PXD2B	100.00	1
SLC26A2	100.00	1
SPARC	100.00	1
SQSTM1	100.00	1
TCOF1	100.00	1
XRCC4	100.00	1
ZSWIM6	97.48	1
ARID1B	99.51	1
CCN6	100.00	1
CILK1	99.92	1
COL10A1	100.00	1
COL11A2	100.00	1
COL9A1	99.99	1
CUL7	100.00	1
DSE	99.66	1
EDN1	100.00	1
ENPP1	99.27	1
FIG4	100.00	1
FOXC1	99.89	1
GCM2	100.00	1
GJA1	100.00	1
GMNN	99.99	1
ID4	97.95	1
MAP3K7	100.00	1
MCM3	100.00	1
NEU1	100.00	1
OSTM1	99.96	1
PEX7	100.00	1
PGM3	100.00	1
POLR1C	97.57	1
RAB23	100.00	1
RIPPLY2	99.85	1
RUNX2	100.00	1
SCUBE3	100.00	1
SLC17A5	99.99	1
SLC35B2	100.00	1
TAB2	100.00	1
TENT5A	100.00	1
TFAP2B	100.00	1
TREM2	100.00	1
ACTB	100.00	1
BBS9	99.96	1
BMPER	100.00	1
COL1A2	100.00	1
CYP3A4	99.94	1
DLX5	100.00	1
DLX6	100.00	1
DYNC2I1	96.68	1
EZH2	99.98	1
FAM20C	99.99	1
FKBP14	99.95	1
GLI3	100.00	1
GUSB	100.00	1
HOXA11	100.00	1
HOXA13	96.84	1
KDELR2	100.00	1
LFNG	94.20	1
LMBR1	99.96	1
MCM7	100.00	1
MET	100.00	1
MNX1	87.84	1
POR	100.00	1
RINT1	99.95	1
SBDS	100.00	1
SFRP4	100.00	1
SHH	100.00	1
SLC4A2	100.00	1
SMO	99.99	1
SNX10	99.97	1
TBXAS1	99.99	1
TRPV6	99.41	1
TWIST1	100.00	1
ASAH1	99.99	1
BMP1	100.00	1
BPNT2	100.00	1
CA2	100.00	1
COLEC10	100.00	1
CSGALNACT1	100.00	1
CSPP1	99.99	1
ESCO2	99.74	1
EXT1	100.00	1
EXTL3	100.00	1
FGFR1	100.00	1
GDF6	99.99	1
HGSNAT	96.79	1
NSMCE2	100.00	1
POP1	100.00	1
PTDSS1	100.00	1
RAD21	100.00	1
RECQL4	99.80	1
RSPO2	100.00	1
SLCO5A1	100.00	1
SULF1	100.00	1
TMEM67	99.30	1
TNFRSF11B	100.00	1
TONSL	100.00	1
TRPS1	100.00	1
ABL1	100.00	1
ADAMTSL2	100.00	1
COL27A1	100.00	1
RIGI	99.97	1
DYNC2I2	100.00	1
HNRNPK	100.00	1
IL11RA	100.00	1
LMX1B	100.00	1
MTAP	100.00	1
NANS	100.00	1
NOTCH1	100.00	1
NPR2	100.00	1
ROR2	99.98	1
SLC34A3	100.00	1
TGFBR1	100.00	1
TMEM38B	100.00	1
TRIM32	100.00	1
VCP	100.00	1
ZNF462	100.00	1
AIFM1	100.00	1
AMER1	100.00	1
ARSL	100.00	1
ATP7A	100.00	1
BGN	100.00	1
CCNQ	99.81	1
CLCN5	100.00	1
EBP	100.00	1
EFNB1	100.00	1
FANCB	100.00	1
FGD1	100.00	1
FGF16	100.00	1
FLNA	100.00	1
GPC3	100.00	1
GPC4	100.00	1
HDAC8	100.00	1
IDS	100.00	1
IKBKG	100.00	1
MBTPS2	100.00	1
MID1	100.00	1
NSDHL	100.00	1
OFD1	100.00	1
PHEX	99.99	1
PLS3	100.00	1
PORCN	100.00	1
SHOX	94.83	1
SMC1A	100.00	1
SMS	100.00	1
TRAPPC2	100.00	1
ZIC3	100.00	1