DNAJC5 | Belgian Genetic Tests database

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Name:	DnaJ heat shock protein family (Hsp40) member C5
Symbol:	DNAJC5
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	DNAJC5A FLJ00118 FLJ13070
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Ataxia (141 genes) - KUL

Details

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

Ataxia (348 genes) - ULB

Details

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

Ataxia Spasticity - UGent

Details

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

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

Epilepsy, seizures (196 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AARS1	100.00	1	NM_001605.3
ACTB	100.00	1	NM_001101.5
ADSL	100.00	1	NM_000026.4
AKT3	100.00	1	NM_005465.7
ALDH7A1	100.00	1	NM_001182.5
ALG13	98.77	1	NM_001099922.3
ANKRD11	99.99	1	NM_013275.6
ARHGEF9	100.00	1	NM_001353921.2
ARID1B	98.38	1	NM_001374828.1
ARX	96.96	1	NM_139058.3
ASXL3	100.00	1	NM_030632.3
ATN1	100.00	1	NM_001940.4
ATP1A2	100.00	1	NM_000702.4
ATP1A3	100.00	1	NM_152296.5
ATP7A	100.00	1	NM_000052.7
ATRX	100.00	1	NM_000489.5
ATXN2	100.00	1	NM_001372574.1
BRAT1	100.00	1	NM_152743.4
BTD	100.00	1	NM_001370658.1
CACNA1A	100.00	1	NM_023035.3
CACNA1D	100.00	1	NM_001128840.3
CACNA1E	100.00	1	NM_001205293.3
CACNA2D2	100.00	1	NM_001174051.3
CAD	100.00	1	NM_004341.5
CAMK2A	100.00	1	NM_015981.4
CAMK2B	100.00	1	NM_001220.5
CASK	100.00	1	NM_003688.3
CDKL5	100.00	1	NM_001323289.2
CERT1	100.00	1	NM_001130105.1
CHD2	100.00	1	NM_001271.4
CHRNA2	100.00	1	NM_000742.4
CHRNA4	100.00	1	NM_000744.6
CHRNB2	100.00	1	NM_000748.3
CLN3	100.00	1	NM_001042432.2
CLN5	100.00	1	NM_006493.4
CLN6	100.00	1	NM_017882.3
CLTC	100.00	1	NM_004859.4
CNTNAP2	100.00	1	NM_014141.6
COL4A1	100.00	1	NM_001845.6
CSNK2B	100.00	1	NM_001320.7
CSTB	100.00	1	NM_000100.4
CTSA	100.00	1	NM_000308.4
CTSD	100.00	1	NM_001909.5
CTSF	100.00	1	NM_003793.4
CUL4B	100.00	1	NM_001079872.2
CYFIP2	100.00	1	NM_001037333.3
DCX	100.00	1	NM_001195553.2
DDC	100.00	1	NM_001082971.2
DDX3X	100.00	1	NM_001356.4
DEAF1	100.00	1	NM_021008.4
DEPDC5	100.00	1	NM_001242896.3
DHDDS	100.00	1	NM_205861.3
DNAJC5	100.00	1	NM_025219.3
DNM1	100.00	1	NM_004408.4
DOCK7	100.00	1	NM_001367561.1
DYNC1H1	100.00	1	NM_001376.5
DYRK1A	100.00	1	NM_001347721.2
EEF1A2	100.00	1	NM_001958.5
EHMT1	100.00	1	NM_024757.5
EPM2A	100.00	1	NM_005670.4
FGF12	100.00	1	NM_021032.4
FLNA	100.00	1	NM_001110556.2
FMR1	100.00	1	NM_002024.6
FOLR1	100.00	1	NM_016729.3
FOXG1	99.86	1	NM_005249.5
FOXP1	100.00	1	NM_032682.6
GABBR2	100.00	1	NM_005458.8
GABRA1	100.00	1	NM_001127644.2
GABRA2	100.00	1	NM_001330690.1
GABRA3	100.00	1	NM_000808.4
GABRA5	100.00	1	NM_000810.4
GABRB1	100.00	1	NM_000812.4
GABRB2	100.00	1	NM_001371727.1
GABRB3	100.00	1	NM_000814.6
GABRD	100.00	1	NM_000815.5
GABRG2	92.05	1	NM_198903.2
GAD1	100.00	1	NM_000817.3
GAD2	100.00	1	NM_001134366.2
GAMT	100.00	1	NM_000156.6
GATM	100.00	1	NM_001482.3
GBA1	98.97	1	NM_000157.4
GLDC	100.00	1	NM_000170.3
GLI3	100.00	1	NM_000168.6
GNAO1	100.00	1	NM_020988.3
GNB1	100.00	1	NM_002074.5
GOSR2	100.00	1	NM_004287.5
GPAA1	100.00	1	NM_003801.4
GRIA3	100.00	1	NM_007325.5
GRIN1	100.00	1	NM_007327.4
GRIN2A	100.00	1	NM_001134407.3
GRIN2B	100.00	1	XM_011520629.2
GRIN2D	100.00	1	NM_000836.2
H3-3A	100.00	1	NM_002107.7
H3-3B	100.00	1	NM_005324.5
HECW2	100.00	1	NM_001348768.2
HIVEP2	100.00	1	NM_006734.4
HLCS	100.00	1	NM_000411.8
HNRNPU	100.00	1	NM_031844.3
HUWE1	100.00	1	NM_031407.7
IQSEC2	99.37	1	NM_001111125.3
JMJD1C	100.00	1	NM_032776.3
KANSL1	100.00	1	NM_001193466.2
KCNA1	100.00	1	NM_000217.3
KCNA2	100.00	1	NM_004974.4
KCNB1	100.00	1	NM_004975.4
KCNC1	100.00	1	NM_001112741.2
KCNH1	100.00	1	NM_172362.3
KCNJ10	100.00	1	NM_002241.5
KCNK4	100.00	1	NM_033310.3
KCNQ2	100.00	1	NM_172107.4
KCNQ3	100.00	1	NM_004519.4
KCNT1	100.00	1	NM_020822.3
KCNT2	100.00	1	NM_198503.5
KCTD7	100.00	1	NM_153033.4
KDM5C	100.00	1	NM_004187.5
KDM6A	100.00	1	NM_001291415.2
KIF1A	100.00	1	NM_001244008.1
KMT2D	100.00	1	NM_003482.3
KMT2E	100.00	1	NM_182931.3
KPTN	100.00	1	NM_007059.4
LGI1	100.00	1	NM_005097.4
LRP1	100.00	1	NM_002332.3
MAGI2	100.00	1	NM_012301.4
MBD5	100.00	1	NM_018328.4
MECP2	100.00	1	NM_001110792.2+NM_004992.3
MED12	100.00	1	NM_005120.3
MED13L	100.00	1	NM_015335.4
MEF2C	100.00	1	NM_002397.5
MFSD8	100.00	1	NM_001371596.2
MICAL1	100.00	1	NM_022765.4
MID1	100.00	1	NM_000381.4
MOCS1	100.00	1	NM_001358530.2
MTHFR	100.00	1	NM_005957.5
MTOR	100.00	1	NM_004958.4
NEDD4L	100.00	1	NM_001144967.3
NEU1	100.00	1	NM_000434.4
NEXMIF	100.00	1	NM_001008537.3
NF1	100.00	1	NM_001042492.3
NFIA	99.78	1	NM_001134673.4
NHLRC1	100.00	1	NM_198586.3
NLGN3	100.00	1	NM_181303.2
NPRL2	100.00	1	NM_006545.5
NPRL3	100.00	1	NM_001077350.3
NRXN1	100.00	1	NM_001330078.2
NTRK2	100.00	1	XM_017014751.2
NUS1	100.00	1	NM_138459.5
OPHN1	100.00	1	NM_002547.3
PACS1	100.00	1	NM_018026.4
PACS2	100.00	1	NM_001100913.3
PAFAH1B1	100.00	1	NM_000430.4
PANK2	100.00	1	NM_153638.3
PCDH19	100.00	1	NM_001184880.2
PHGDH	100.00	1	NM_006623.4
PIGA	100.00	1	NM_002641.3
PIGO	100.00	1	NM_032634.4
PIGQ	100.00	1	NM_004204.5
PIGS	100.00	1	NM_033198.4
PIGT	100.00	1	NM_015937.6
PIGU	100.00	1	NM_080476.4
PIGV	100.00	1	NM_017837.4
PIK3CA	100.00	1	NM_006218.4
PIK3R2	100.00	1	NM_005027.4
PLCB1	100.00	1	NM_015192.4
PLPBP	100.00	1	NM_007198.4
PLXNA1	100.00	1	NM_032242.3
PNKP	100.00	1	NM_007254.4
PNPO	100.00	1	NM_018129.4
POLG	100.00	1	NM_001126131.2
PPP2R1A	100.00	1	NM_014225.6
PPP2R5D	100.00	1	NM_006245.4
PPT1	100.00	1	NM_000310.4
PRICKLE1	100.00	1	NM_153026.3
PRIMA1	100.00	1	NM_178013.4
PRRT2	100.00	1	NM_145239.3
PSAT1	100.00	1	NM_058179.4
PTEN	100.00	1	NM_000314.8
PURA	100.00	1	NM_005859.5
QARS1	100.00	1	NM_005051.3
RELN	100.00	1	NM_005045.4
RLIM	100.00	1	NM_016120.4
SCAF4	100.00	1	NM_020706.2
SCARB2	100.00	1	NM_005506.4
SCN1A	100.00	1	NM_001165963.3
SCN1B	100.00	1	NM_001037.5+NM_199037.5
SCN2A	100.00	1	NM_001040142.2
SCN3A	100.00	1	NM_006922.4
SCN8A	100.00	1	NM_001330260.2
SCN9A	100.00	1	NM_001365536.1
SERPINI1	100.00	1	NM_001122752.1
SETBP1	99.99	1	NM_015559.3
SETD5	100.00	1	NM_001080517.3
SLC12A5	100.00	1	NM_020708.5
SLC19A3	100.00	1	NM_025243.4
SLC1A2	100.00	1	NM_004171.4
SLC25A22	100.00	1	NM_001191061.2
SLC2A1	100.00	1	NM_006516.3
SLC35A2	100.00	1	NM_005660.3
SLC6A1	100.00	1	NM_003042.4
SLC6A11	100.00	1	NM_014229.3
SLC6A8	100.00	1	NM_005629.4
SLC9A6	100.00	1	NM_001042537.1
SMARCA2	100.00	1	NM_003070.5
SMC1A	100.00	1	NM_006306.4
SMS	100.00	1	NM_004595.5
SNAP25	100.00	1	NM_130811.4
SPTAN1	100.00	1	NM_001130438.3
ST3GAL3	100.00	1	NM_006279.5
STX1B	100.00	1	NM_052874.5
STXBP1	100.00	1	NM_001032221.6
SYN1	100.00	1	NM_006950.3
SYNGAP1	100.00	1	NM_006772.3
SZT2	100.00	1	NM_001365999.1
TBC1D24	100.00	1	NM_001199107.2
TBL1XR1	100.00	1	NM_024665.7
TCF4	100.00	1	NM_001083962.2
TNK2	100.00	1	XM_005269270.3
TPP1	100.00	1	NM_000391.4
TRPM6	100.00	1	NM_017662.5
TRRAP	100.00	1	NM_001244580.1
TSC1	100.00	1	NM_000368.5
TSC2	100.00	1	NM_000548.5
TUBA1A	100.00	1	NM_006009.4
TWNK	100.00	1	NM_021830.5
UBE3A	100.00	1	NM_130839.5
UGP2	100.00	1	NM_006759.3
WASF1	100.00	1	NM_003931.3
WDR45	100.00	1	NM_001029896.2
WWOX	100.00	1	NM_016373.4
ZEB2	100.00	1	NM_014795.4

Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA

Details

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

Intellectual disability & Epilepsy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AAAS	99.88	1
AARS1	99.99	1
AASS	99.61	1
ABAT	99.98	1
ABCA2	100.00	1
ABCC8	99.98	1
ABCC9	99.92	1
ABCD1	99.98	1
ABCD4	100.00	1
ABHD16A	100.00	1
ABHD5	99.98	1
ACAD9	100.00	1
ACADM	96.14	1
ACADS	99.99	1
ACADSB	99.93	1
ACAT1	99.81	1
ACO2	99.99	1
ACOX1	99.98	1
ACSF3	99.99	1
ACSL4	99.59	1
ACTB	100.00	1
ACTG1	100.00	1
ACTL6A	99.74	1
ACTL6B	99.90	1
ACVR1	99.94	1
ACY1	100.00	1
ADAM22	99.15	1
ADAR	99.84	1
ADARB1	94.29	1
ADAT3	100.00	1
ADD3	99.95	1
ADGRG1	99.90	1
ADGRL1	99.98	1
ADGRL2	98.18	1
ADK	99.78	1
ADNP	100.00	1
ADPRS	99.94	1
ADSL	99.93	1
AFF2	99.89	1
AFF3	99.63	1
AFF4	99.94	1
AFG3L2	99.97	1
AGA	99.92	1
AGO1	99.73	1
AGO2	99.97	1
AGPAT2	100.00	1
AGTPBP1	99.68	1
AHCY	100.00	1
AHDC1	100.00	1
AHI1	99.86	1
AIFM1	99.92	1
AIMP1	99.97	1
AIMP2	99.99	1
AK1	100.00	1
AKT3	99.81	1
ALDH18A1	99.96	1
ALDH3A2	99.95	1
ALDH4A1	98.97	1
ALDH5A1	96.19	1
ALDH7A1	99.49	1
ALG1	86.66	1
ALG11	99.99	1
ALG12	100.00	1
ALG13	99.44	1
ALG14	99.34	1
ALG2	100.00	1
ALG3	99.96	1
ALG6	93.37	1
ALG8	95.49	1
ALG9	99.73	1
ALKBH8	99.98	1
ALMS1	99.90	1
ALPL	99.88	1
ALX1	97.99	1
ALX4	100.00	1
AMACR	100.00	1
AMER1	100.00	1
AMMECR1	99.87	1
AMPD2	99.91	1
AMT	100.00	1
ANK2	99.98	1
ANK3	99.79	1
ANKLE2	99.99	1
ANKRD11	99.85	1
ANKRD17	99.92	1
ANO10	99.93	1
ANTXR1	99.83	1
AP1G1	99.95	1
AP1S1	99.49	1
AP1S2	99.56	1
AP2M1	99.69	1
AP3B1	99.89	1
AP3B2	100.00	1
AP3D1	100.00	1
AP4B1	96.92	1
AP4E1	99.94	1
AP4M1	99.98	1
AP4S1	87.89	1
AP5Z1	100.00	1
APC2	99.98	1
APTX	99.92	1
ARCN1	99.92	1
ARF1	99.99	1
ARFGEF1	99.86	1
ARFGEF2	99.99	1
ARG1	99.95	1
ARHGAP31	100.00	1
ARHGEF9	99.89	1
ARID1A	99.83	1
ARID1B	99.69	1
ARID2	99.48	1
ARL13B	99.53	1
ARL6	99.90	1
ARMC9	99.77	1
ARSA	99.99	1
ARSL	99.93	1
ARV1	99.85	1
ARX	95.36	1
ASAH1	99.90	1
ASH1L	99.79	1
ASL	99.98	1
ASNS	99.63	1
ASPA	99.98	1
ASPM	99.57	1
ASS1	77.52	1
ASXL1	100.00	1
ASXL2	99.82	1
ASXL3	99.99	1
ATAD1	99.85	1
ATAD3A	99.62	1
ATCAY	100.00	1
ATG7	99.90	1
ATIC	99.86	1
ATL1	99.95	1
ATM	99.83	1
ATN1	99.90	1
ATP13A2	99.96	1
ATP1A1	98.41	1
ATP1A2	99.85	1
ATP1A3	99.98	1
ATP2A2	99.98	1
ATP2B1	99.39	1
ATP6AP2	99.55	1
ATP6V0A1	99.85	1
ATP6V0A2	99.92	1
ATP6V1A	99.73	1
ATP6V1B2	99.99	1
ATP7A	99.87	1
ATP8A2	100.00	1
ATP9A	99.99	1
ATPAF2	99.96	1
ATRX	99.44	1
ATXN2	99.88	1
AUH	99.95	1
AUTS2	99.87	1
AVPR2	100.00	1
B3GALNT2	92.79	1
B3GALT6	100.00	1
B3GLCT	99.90	1
B4GALNT1	99.97	1
B4GALT1	99.97	1
B4GALT7	99.99	1
B4GAT1	100.00	1
B9D1	99.80	1
B9D2	99.88	1
BAZ2B	99.63	1
BBS1	100.00	1
BBS10	99.98	1
BBS12	100.00	1
BBS2	99.90	1
BBS4	99.88	1
BBS5	99.00	1
BBS7	99.42	1
BBS9	99.75	1
BCAP31	99.95	1
BCAS3	99.31	1
BCKDHA	99.97	1
BCKDHB	99.73	1
BCKDK	99.99	1
BCL11A	99.93	1
BCL11B	100.00	1
BCOR	99.97	1
BCORL1	99.99	1
BCS1L	99.99	1
BICD2	99.99	1
BICRA	99.99	1
BLM	99.80	1
BLOC1S1	99.95	1
BMP4	100.00	1
BOLA3	99.22	1
BPTF	99.84	1
BRAF	99.78	1
BRAT1	100.00	1
BRD4	99.98	1
BRF1	100.00	1
BRPF1	100.00	1
BRSK2	99.98	1
BRWD3	99.40	1
BSCL2	99.99	1
BTD	100.00	1
BUB1B	100.00	1
C12ORF4	99.93	1
C12ORF57	100.00	1
C2CD3	99.88	1
CA2	99.62	1
CA5A	99.99	1
CA8	99.71	1
CACNA1A	98.16	1
CACNA1B	100.00	1
CACNA1C	100.00	1
CACNA1D	99.98	1
CACNA1E	99.82	1
CACNA1G	99.95	1
CACNA1H	100.00	1
CACNA1I	99.98	1
CACNA2D1	97.12	1
CACNA2D2	99.99	1
CACNB4	99.20	1
CACNG2	99.99	1
CAD	99.86	1
CAMK2A	99.99	1
CAMK2B	99.92	1
CAMK2G	99.95	1
CAMK4	99.78	1
CAMTA1	99.97	1
CAPN10	99.99	1
CAPN15	99.98	1
CARS1	99.99	1
CARS2	99.99	1
CASK	98.95	1
CBL	99.95	1
CBS	17.79	1
CC2D1A	99.98	1
CC2D2A	99.95	1
CCBE1	99.52	1
CCDC115	99.90	1
CCDC174	99.98	1
CCDC22	99.91	1
CCDC47	99.97	1
CCDC88A	99.48	1
CCDC88C	100.00	1
CCM2	99.93	1
CCND2	100.00	1
CCNK	99.93	1
CDC42	98.05	1
CDC42BPB	99.99	1
CDH11	99.94	1
CDH15	99.98	1
CDH2	99.84	1
CDK10	99.98	1
CDK13	99.83	1
CDK19	99.26	1
CDK5RAP2	99.97	1
CDK6	99.47	1
CDK8	99.81	1
CDKL5	99.88	1
CDKN1C	100.00	1
CDON	99.99	1
CELF2	99.99	1
CELSR3	99.99	1
CENPF	99.97	1
CENPJ	99.92	1
CEP104	99.99	1
CEP120	99.90	1
CEP135	99.82	1
CEP152	99.93	1
CEP290	98.10	1
CEP41	99.99	1
CEP55	99.92	1
CEP57	99.92	1
CEP63	94.73	1
CEP83	98.68	1
CEP85L	100.00	1
CERS1	100.00	1
CERT1	99.66	1
CHAMP1	99.99	1
CHD1	99.46	1
CHD2	99.97	1
CHD3	99.06	1
CHD4	99.99	1
CHD5	99.97	1
CHD7	99.99	1
CHD8	99.96	1
CHKB	100.00	1
CHMP1A	100.00	1
CHRNA2	99.98	1
CHRNA4	100.00	1
CHRNB2	99.99	1
CIC	98.32	1
CILK1	99.69	1
CIT	99.99	1
CKAP2L	99.54	1
CLCN3	99.95	1
CLCN4	99.98	1
CLCNKB	99.98	1
CLDN11	100.00	1
CLDN16	99.98	1
CLDN19	99.02	1
CLIC2	99.82	1
CLN3	99.92	1
CLN5	100.00	1
CLN6	100.00	1
CLN8	100.00	1
CLP1	99.98	1
CLPB	99.97	1
CLTC	99.56	1
CNKSR2	99.54	1
CNNM2	99.94	1
CNOT1	99.83	1
CNOT2	99.00	1
CNOT3	99.99	1
CNPY3	99.98	1
CNTN2	99.95	1
CNTNAP1	99.98	1
CNTNAP2	99.99	1
COA8	99.94	1
COASY	99.98	1
COG1	100.00	1
COG4	99.96	1
COG5	99.92	1
COG6	99.86	1
COG7	99.74	1
COG8	100.00	1
COL18A1	99.99	1
COL4A1	99.99	1
COL4A2	99.98	1
COLEC11	100.00	1
COPB1	99.87	1
COPB2	99.83	1
COQ2	99.90	1
COQ4	100.00	1
COQ5	99.95	1
COQ8A	100.00	1
COQ9	99.62	1
COX10	99.99	1
COX15	100.00	1
COX6B1	100.00	1
CYP2A6	99.99	1
CPE	99.93	1
CPLANE1	99.81	1
CPLX1	100.00	1
CYP21A2	99.91	1
CPSF3	99.93	1
CPT2	99.65	1
CRADD	99.90	1
CRB2	99.95	1
CRBN	99.97	1
CREBBP	99.97	1
CRH	100.00	1
CRLF1	99.99	1
CRPPA	99.98	1
CSDE1	97.17	1
CSNK1G1	99.95	1
CSNK2A1	99.96	1
CSNK2B	99.65	1
CSPP1	98.31	1
CSTB	100.00	1
CTBP1	99.98	1
CTC1	100.00	1
CTCF	99.87	1
CTDP1	99.97	1
CTNNA2	99.84	1
CTNNB1	99.95	1
CTNND1	99.92	1
CTNND2	99.97	1
CTSA	99.98	1
CTSD	100.00	1
CTSF	99.96	1
CTU2	99.91	1
CUBN	99.99	1
CUL3	99.76	1
CUL4B	99.67	1
CUX1	99.37	1
CUX2	99.96	1
CWC27	99.67	1
CWF19L1	99.91	1
CYB5R3	99.93	1
CYC1	99.86	1
CYFIP2	100.00	1
CYP27A1	100.00	1
CYP2U1	99.99	1
D2HGDH	100.00	1
DAG1	100.00	1
DARS1	98.85	1
DARS2	98.31	1
DBT	94.51	1
DCAF17	99.84	1
DCC	99.96	1
DCHS1	100.00	1
DCPS	99.98	1
DCX	99.99	1
DDB1	99.96	1
DDC	99.67	1
DDHD2	99.97	1
DDX11	99.74	1
DDX23	99.94	1
DDX3X	99.01	1
DDX59	99.67	1
DDX6	99.88	1
DEAF1	99.90	1
DEGS1	99.99	1
DENND5A	99.99	1
DEPDC5	99.18	1
DHCR24	99.93	1
DHCR7	99.97	1
DHDDS	98.65	1
DHFR	98.89	1
DHPS	93.17	1
DHTKD1	99.95	1
DHX16	99.98	1
DHX30	99.96	1
DHX37	99.98	1
DIAPH1	99.95	1
DIS3L2	99.90	1
DKC1	99.59	1
DLAT	99.65	1
DLD	99.89	1
DLG3	99.96	1
DLG4	99.99	1
DLL1	99.99	1
DMD	99.76	1
DMPK	99.93	1
DMXL2	99.86	1
DNAJC12	99.72	1
DNAJC19	99.76	1
DNAJC5	99.99	1
DNM1	92.28	1
DNM1L	99.40	1
DNMT3A	100.00	1
DNMT3B	99.98	1
DOCK3	99.96	1
DOCK6	100.00	1
DOCK7	94.41	1
DOCK8	99.86	1
DOLK	100.00	1
DONSON	99.99	1
DPAGT1	100.00	1
DPF2	99.99	1
DPH1	100.00	1
DPM1	90.68	1
DPM2	100.00	1
DPP6	99.99	1
DPYD	94.53	1
DPYS	99.99	1
DPYSL5	99.93	1
DSCAM	99.99	1
DYM	99.96	1
DYNC1H1	99.99	1
DYNC1I2	98.97	1
DYRK1A	99.98	1
EARS2	99.96	1
EBF3	99.99	1
GLB1	100.00	1
ECHS1	100.00	1
EDC3	99.97	1
EDEM3	98.38	1
EED	93.81	1
EEF1A2	100.00	1
EFNB2	99.92	1
EFTUD2	99.93	1
EHMT1	98.38	1
EIF2AK2	99.70	1
EIF2AK3	97.43	1
EIF2B1	99.98	1
EIF2B2	99.90	1
EIF2B3	97.26	1
EIF2B4	99.96	1
EIF2B5	99.98	1
EIF2S3	99.34	1
EIF3F	99.96	1
EIF4A3	99.99	1
EIF5A	100.00	1
ELAC2	99.90	1
ELOVL4	99.91	1
ELP2	99.82	1
EMC1	99.85	1
EMC10	99.96	1
EML1	99.99	1
EMX2	100.00	1
ENTPD1	99.98	1
EP300	99.97	1
EPB41L1	100.00	1
EPG5	99.95	1
EPHA7	99.97	1
EPM2A	99.99	1
EPRS1	99.53	1
ERBB4	99.92	1
ERCC1	99.96	1
ERCC2	99.99	1
ERCC3	99.90	1
ERCC5	99.99	1
ERCC6	99.60	1
ERCC6L2	99.94	1
ERCC8	99.79	1
ERLIN2	99.94	1
ESCO2	99.92	1
ETFA	99.95	1
ETFB	100.00	1
ETFDH	99.82	1
ETHE1	84.97	1
EXOC2	99.97	1
EXOC7	100.00	1
EXOSC2	100.00	1
EXOSC3	100.00	1
EXOSC8	99.91	1
EXOSC9	94.91	1
EXT2	99.98	1
EXTL3	99.99	1
EZH2	99.89	1
FA2H	99.98	1
FAM111A	100.00	1
HYCC1	99.81	1
FAM149B1	99.69	1
FAM20C	100.00	1
FAM50A	99.99	1
FANCD2	99.86	1
FAR1	99.82	1
FARS2	100.00	1
FARSA	100.00	1
FARSB	99.64	1
FAT4	99.98	1
FBRSL1	95.66	1
FBXL3	99.48	1
FBXL4	100.00	1
FBXO11	99.53	1
FBXO28	99.67	1
FBXO31	99.99	1
FBXW11	99.96	1
FBXW7	99.90	1
FDFT1	99.99	1
FGD1	99.96	1
FGF12	99.94	1
FGF13	99.76	1
FGF14	99.99	1
FGFR1	100.00	1
FGFR2	99.99	1
FGFR3	100.00	1
FH	99.95	1
FIBP	99.83	1
FIG4	99.83	1
FKRP	100.00	1
FKTN	99.94	1
FLNA	99.99	1
FLVCR1	99.91	1
FLVCR2	100.00	1
FMN2	99.99	1
FMR1	99.56	1
FOLR1	100.00	1
FOXG1	99.91	1
FOXP1	99.98	1
FOXP2	99.98	1
FOXRED1	100.00	1
FRAS1	99.97	1
FREM2	99.97	1
FRMD4A	100.00	1
FRMPD4	99.92	1
FRRS1L	99.91	1
FTCD	99.99	1
FTO	99.66	1
FTSJ1	99.95	1
FUCA1	98.72	1
FUT8	99.98	1
FXYD2	100.00	1
FZR1	99.99	1
GABBR2	99.96	1
GABRA1	100.00	1
GABRA2	99.90	1
GABRA3	99.96	1
GABRA5	99.96	1
GABRB1	99.97	1
GABRB2	99.92	1
GABRB3	99.66	1
GABRD	99.99	1
GABRG2	91.88	1
GAD1	99.92	1
GAL	99.90	1
GALC	99.92	1
GALE	99.90	1
GALNT2	99.44	1
GALT	100.00	1
GAMT	100.00	1
GATAD2B	99.44	1
GATM	99.92	1
GBA1	96.92	1
GCDH	100.00	1
GCH1	99.94	1
GCK	99.99	1
GCSH	98.75	1
GDI1	99.99	1
GEMIN4	100.00	1
GEMIN5	99.96	1
GFAP	99.99	1
GFER	100.00	1
GFM1	99.95	1
GFM2	99.87	1
GJA1	100.00	1
GJB1	100.00	1
GJC2	100.00	1
GK	99.27	1
GLDC	99.99	1
GLI2	99.93	1
GLI3	100.00	1
GLIS3	99.99	1
GLRA1	100.00	1
GLRB	99.79	1
GLS	99.78	1
GLUD1	99.80	1
GLUL	99.88	1
GLYCTK	100.00	1
GM2A	100.00	1
GMNN	99.73	1
GMPPA	99.97	1
GMPPB	100.00	1
GNAI1	99.70	1
GNAO1	99.86	1
GNAQ	99.94	1
GNAS	100.00	1
GNB1	100.00	1
GNB2	99.99	1
GNB5	99.98	1
GNPAT	99.78	1
GNPTAB	99.76	1
GNPTG	100.00	1
GNS	99.59	1
GOSR2	98.92	1
GOT2	99.78	1
GPAA1	100.00	1
GPC3	99.60	1
GPC4	99.89	1
GPHN	99.94	1
GPT2	99.97	1
GRIA2	99.99	1
GRIA3	99.93	1
GRIA4	99.93	1
GRID2	99.97	1
GRIK2	99.90	1
GRIN1	100.00	1
GRIN2A	100.00	1
GRIN2B	99.99	1
GRIN2D	99.97	1
GRIP1	99.83	1
GRM1	100.00	1
GRM7	99.99	1
GRN	100.00	1
GSS	99.99	1
GTF2E2	100.00	1
GTF2H5	100.00	1
GTPBP2	99.98	1
GTPBP3	99.99	1
GUSB	95.07	1
H1-4	100.00	1
H3-3A	35.67	1
H3-3B	100.00	1
H4C11	99.08	1
H4C3	99.99	1
H4C5	100.00	1
H4C9	100.00	1
HACE1	99.76	1
HADH	99.86	1
HADHA	99.98	1
HAX1	100.00	1
HCCS	99.90	1
HCFC1	99.99	1
HCN1	99.99	1
HCN2	97.35	1
HDAC4	99.98	1
HDAC6	99.96	1
HDAC8	99.74	1
HECW2	99.91	1
HEPACAM	100.00	1
HERC1	99.92	1
HERC2	95.66	1
HESX1	99.77	1
HEXA	99.99	1
HEXB	99.91	1
HGSNAT	99.93	1
HIBCH	99.70	1
HID1	99.99	1
HIVEP2	99.99	1
HK1	99.97	1
HLCS	99.97	1
HMGB1	54.18	1
HMGCL	99.31	1
HNMT	99.53	1
HNRNPH1	99.98	1
HNRNPH2	99.96	1
HNRNPK	99.93	1
HNRNPR	98.05	1
HNRNPU	99.95	1
HOXA1	100.00	1
HPD	99.99	1
HPDL	99.99	1
HPRT1	97.80	1
HRAS	100.00	1
HS2ST1	95.79	1
HSD17B10	99.98	1
HSD17B4	99.71	1
HSPA9	99.96	1
HSPD1	83.42	1
HTRA2	99.99	1
HUWE1	99.88	1
IARS1	99.89	1
IARS2	99.77	1
IBA57	100.00	1
IDH2	100.00	1
IDS	99.82	1
IDUA	99.99	1
IER3IP1	99.92	1
IFIH1	99.84	1
IFT172	99.98	1
IFT27	100.00	1
IGF1	100.00	1
IGF1R	100.00	1
IKBKG	57.34	1
IL1RAPL1	99.77	1
IMPA1	99.95	1
IMPDH2	100.00	1
INPP5E	99.85	1
INPP5K	99.94	1
INTS1	100.00	1
INTS8	99.89	1
IQSEC1	99.99	1
IQSEC2	99.97	1
IREB2	99.90	1
IRF2BPL	99.21	1
IRX5	100.00	1
ISCA2	100.00	1
ITGA7	99.87	1
ITPA	99.99	1
ITPR1	99.98	1
IVD	100.00	1
JAG1	100.00	1
JAM2	91.82	1
JAM3	100.00	1
JARID2	99.97	1
KANK1	99.99	1
KANSL1	99.85	1
KARS1	99.98	1
KAT5	100.00	1
KAT6A	99.93	1
KAT6B	99.79	1
KAT8	99.98	1
KATNAL2	99.98	1
KATNB1	99.99	1
KATNIP	99.13	1
KCNA1	100.00	1
KCNA2	99.99	1
KCNA4	100.00	1
KCNB1	100.00	1
KCNC1	100.00	1
KCNC2	99.88	1
KCNC3	99.98	1
KCND2	99.90	1
KCND3	99.98	1
KCNH1	99.92	1
KCNJ10	99.98	1
KCNJ11	100.00	1
KCNJ6	100.00	1
KCNK4	99.99	1
KCNK9	100.00	1
KCNMA1	99.89	1
KCNN2	91.25	1
KCNN3	99.97	1
KCNQ2	100.00	1
KCNQ3	99.98	1
KCNQ5	99.89	1
KCNT1	99.98	1
KCNT2	98.77	1
KCTD3	99.75	1
KCTD7	99.98	1
KDM1A	89.42	1
KDM3B	99.98	1
KDM4B	99.99	1
KDM5B	97.15	1
KDM5C	99.98	1
KDM6A	99.74	1
KDM6B	99.99	1
KIAA0586	95.75	1
BLTP1	99.79	1
KIDINS220	99.94	1
KIF11	99.84	1
KIF14	97.80	1
KIF1A	99.96	1
KIF21B	99.83	1
KIF2A	99.79	1
KIF4A	99.76	1
KIF5A	99.91	1
KIF5C	99.93	1
KIF7	100.00	1
KIFBP	99.91	1
KLF7	99.99	1
KLHL15	100.00	1
KLHL7	99.95	1
KMT2A	99.97	1
KMT2B	99.99	1
KMT2C	98.98	1
KMT2D	99.98	1
KMT2E	99.92	1
KMT5B	99.91	1
KNL1	98.43	1
KPTN	99.98	1
KRAS	99.13	1
KRIT1	99.33	1
L1CAM	99.98	1
L2HGDH	99.92	1
LAMA1	99.98	1
LAMA2	99.95	1
LAMB1	99.87	1
LAMC3	99.97	1
LAMP2	98.95	1
LARGE1	100.00	1
LARP7	99.63	1
LARS1	99.87	1
LAS1L	99.97	1
LGI1	99.99	1
LGI4	99.98	1
LIAS	99.98	1
LIG4	100.00	1
LINGO1	100.00	1
LINS1	99.96	1
LIPT1	99.89	1
LMAN2L	99.91	1
LMBRD2	99.66	1
LMNB1	99.73	1
LMNB2	99.99	1
LONP1	99.99	1
LRP2	99.86	1
LRPPRC	99.80	1
LSS	99.98	1
LYRM7	99.98	1
LYST	99.87	1
LZTFL1	100.00	1
LZTR1	99.46	1
MAB21L1	100.00	1
MAB21L2	100.00	1
MACF1	99.33	1
MAF	99.73	1
MAGEL2	99.99	1
MAGT1	99.54	1
MAN1B1	99.94	1
MAN2B1	99.99	1
MANBA	99.81	1
MAOA	99.83	1
MAP1B	100.00	1
MAP2K1	99.98	1
MAP2K2	99.99	1
MAPK1	99.84	1
MAPK8IP3	100.00	1
MAPKAPK5	99.95	1
MAPRE2	99.96	1
MASP1	99.99	1
MAST1	100.00	1
MAT1A	99.70	1
MBD5	99.79	1
MBOAT7	100.00	1
MBTPS2	99.81	1
MCCC1	99.86	1
MCCC2	99.97	1
MCM3AP	99.98	1
MCOLN1	100.00	1
MCPH1	100.00	1
MDH2	99.54	1
MECP2	99.95	1
MECR	99.63	1
MED12	99.94	1
MED12L	99.95	1
MED13	99.55	1
MED13L	99.99	1
MED17	99.82	1
MED23	99.82	1
MED25	99.95	1
MED27	99.99	1
MEF2C	99.57	1
MEGF8	99.90	1
MEIS2	99.97	1
METTL23	100.00	1
METTL5	99.75	1
MFF	99.97	1
MFSD2A	99.78	1
MFSD8	99.70	1
MGAT2	100.00	1
MGP	99.95	1
MICAL1	99.99	1
MICU1	99.56	1
MID1	99.90	1
MINPP1	99.73	1
MKKS	100.00	1
MKS1	99.92	1
MLC1	99.99	1
MLYCD	99.95	1
MMAA	99.95	1
MMAB	99.99	1
MMACHC	99.98	1
MMADHC	99.76	1
MMUT	99.68	1
MN1	99.98	1
MOCS1	99.95	1
MOCS2	99.96	1
MOGS	100.00	1
MORC2	100.00	1
MPDU1	99.97	1
MPDZ	99.86	1
MPLKIP	99.99	1
MRAS	99.97	1
MRPL3	99.94	1
MRPS22	99.87	1
MRPS34	100.00	1
MSL3	99.83	1
MSMO1	99.88	1
MTFMT	99.98	1
MTHFR	99.97	1
MTHFS	100.00	1
MTO1	90.25	1
MTOR	99.98	1
MTR	99.95	1
MTRFR	99.87	1
MTRR	99.98	1
MVK	99.97	1
MYCN	100.00	1
MYO5A	99.94	1
MYT1L	99.99	1
NAA10	99.99	1
NAA15	99.71	1
NAA20	99.93	1
NACC1	99.99	1
NAGA	100.00	1
NAGLU	100.00	1
NAGS	99.99	1
NALCN	99.97	1
NANS	100.00	1
NAPB	100.00	1
NARS1	99.94	1
NARS2	99.59	1
NAXD	99.99	1
NAXE	99.99	1
NBEA	99.98	1
NBN	99.93	1
NCAPG2	99.97	1
NCDN	99.99	1
NCKAP1	99.62	1
NCOR1	99.88	1
NDE1	100.00	1
NDP	99.98	1
NDST1	100.00	1
NDUFA1	99.93	1
NDUFA10	99.98	1
NDUFA11	98.22	1
NDUFA12	99.21	1
NDUFA2	99.95	1
NDUFA6	99.96	1
NDUFA8	100.00	1
NDUFAF1	100.00	1
NDUFAF2	99.88	1
NDUFAF3	100.00	1
NDUFAF4	99.95	1
NDUFAF5	99.89	1
NDUFAF8	99.98	1
NDUFB3	99.60	1
NDUFB9	100.00	1
NDUFS1	99.79	1
NDUFS2	99.66	1
NDUFS3	100.00	1
NDUFS4	99.99	1
NDUFS6	100.00	1
NDUFS7	99.99	1
NDUFS8	100.00	1
NDUFV1	99.99	1
NDUFV2	99.98	1
NECAP1	100.00	1
NECTIN1	99.99	1
NEDD4L	99.97	1
NEMF	99.94	1
NEU1	99.98	1
NEUROD2	100.00	1
NEXMIF	99.99	1
NF1	99.88	1
NFASC	99.94	1
NFE2L2	99.97	1
NFIA	97.55	1
NFIB	99.90	1
NFIX	99.99	1
NFU1	99.48	1
NGLY1	99.93	1
NHLRC1	100.00	1
NHS	99.96	1
NIPBL	99.34	1
NKAP	99.10	1
NKX2-1	100.00	1
NLGN3	99.98	1
NLGN4X	99.98	1
NLRP3	100.00	1
NONO	99.94	1
NOVA2	99.95	1
NPC1	99.99	1
NPC2	100.00	1
NPHP1	99.05	1
NPRL2	100.00	1
NPRL3	99.99	1
NR2F1	99.99	1
NR4A2	99.97	1
NRAS	99.66	1
NRROS	100.00	1
NRXN1	99.98	1
NSD1	99.98	1
NSD2	99.87	1
NSDHL	99.87	1
NSUN2	99.96	1
NT5C2	99.96	1
NTNG2	99.98	1
NTRK1	99.86	1
NTRK2	99.90	1
NUBPL	99.62	1
NUDT2	100.00	1
NUP107	97.46	1
NUP188	99.88	1
NUP214	99.98	1
NUP62	100.00	1
NUS1	99.90	1
OAT	90.17	1
OCLN	82.91	1
OCRL	99.89	1
ODC1	99.99	1
OFD1	99.68	1
OGT	99.79	1
OPHN1	99.92	1
SLC25A15	100.00	1
OSGEP	100.00	1
OTC	99.42	1
OTUD5	99.93	1
OTUD6B	99.92	1
OTX2	100.00	1
OXR1	99.96	1
P4HTM	100.00	1
PABPC1	99.84	1
PACS1	99.96	1
PACS2	99.99	1
PAFAH1B1	99.96	1
PAH	99.96	1
PAK1	99.99	1
PAK3	92.53	1
PANK2	99.99	1
PARN	99.75	1
PARP6	99.97	1
PARS2	99.99	1
PAX1	100.00	1
PAX6	99.95	1
PAX8	99.99	1
PBX1	99.88	1
PODXL	99.99	1
PCCA	99.90	1
PCCB	99.97	1
PCDH12	100.00	1
PCDH19	99.98	1
PCDHGC4	100.00	1
PCGF2	99.78	1
PCLO	99.41	1
PCNT	99.97	1
PCYT2	100.00	1
PDCD10	99.94	1
PDE2A	99.95	1
PDE4D	99.89	1
PDE6D	99.94	1
PDGFRB	99.99	1
PDHA1	99.04	1
PDHB	99.94	1
PDHX	100.00	1
PDP1	100.00	1
PDSS1	95.70	1
PDSS2	99.87	1
PEPD	99.98	1
PET100	99.98	1
PEX1	98.80	1
PEX10	100.00	1
PEX11B	99.62	1
PEX12	100.00	1
PEX13	99.36	1
PEX14	100.00	1
PEX16	99.94	1
PEX19	99.25	1
PEX2	100.00	1
PEX26	100.00	1
PEX3	99.85	1
PEX5	99.89	1
PEX6	99.99	1
PEX7	99.72	1
PGAP1	99.56	1
PGAP2	99.99	1
PGAP3	99.97	1
PGK1	99.93	1
PGM2L1	99.82	1
PGM3	99.94	1
PHACTR1	100.00	1
PHF21A	99.91	1
PHF6	99.16	1
PHF8	99.87	1
PHGDH	99.79	1
PHIP	99.63	1
PI4KA	99.76	1
PIBF1	99.90	1
PIDD1	100.00	1
PIGA	99.81	1
PIGB	99.92	1
PIGC	100.00	1
PIGF	98.59	1
PIGG	99.99	1
PIGH	100.00	1
PIGK	92.56	1
PIGL	99.98	1
PIGN	99.91	1
PIGO	99.99	1
PIGP	99.87	1
PIGQ	99.99	1
PIGS	100.00	1
PIGT	99.95	1
PIGU	99.98	1
PIGV	100.00	1
PIGW	99.87	1
PIGY	99.99	1
PIK3C2B	99.79	1
PIK3CA	99.74	1
PIK3R2	99.95	1
PISD	100.00	1
PITRM1	99.89	1
PLA2G6	99.98	1
PLAA	99.79	1
PLCB1	99.98	1
PLCH1	99.99	1
PLK4	99.89	1
PLP1	99.98	1
PLPBP	99.99	1
PLXNA1	100.00	1
PLXND1	99.98	1
PMM2	99.93	1
PMPCA	99.99	1
PMPCB	99.94	1
PNKP	100.00	1
PNP	100.00	1
PNPLA6	99.99	1
PNPO	99.90	1
PNPT1	99.56	1
POC1A	99.98	1
POC1B	100.00	1
POGZ	99.49	1
POLA1	99.57	1
POLG	100.00	1
POLR1C	100.00	1
POLR2A	99.95	1
POLR3A	99.97	1
POLR3B	99.94	1
POMGNT1	99.69	1
POMGNT2	100.00	1
POMK	100.00	1
POMT1	99.96	1
POMT2	99.98	1
PORCN	99.93	1
POU1F1	99.98	1
POU3F3	99.96	1
PPFIBP1	99.11	1
PPIL1	100.00	1
PPM1D	99.81	1
PPP1CB	99.89	1
PPP1R12A	99.08	1
PPP1R15B	99.92	1
PPP1R21	99.92	1
PPP2CA	99.99	1
PPP2R1A	100.00	1
PPP2R5D	99.99	1
PPP3CA	99.84	1
PPT1	97.48	1
PQBP1	99.99	1
PRDM13	99.99	1
PRDM15	99.99	1
PRF1	100.00	1
PRICKLE1	99.87	1
PRICKLE2	99.98	1
PRIMA1	99.98	1
PRKACB	87.33	1
PRKAR1A	100.00	1
PRKAR1B	100.00	1
PRMT7	99.95	1
PRODH	4.29	1
PRPS1	99.95	1
PRR12	100.00	1
PRRT2	99.97	1
PRSS12	99.98	1
PRUNE1	99.85	1
PSAP	99.94	1
PSAT1	99.98	1
PSMD12	99.95	1
PSPH	99.09	1
PTCH1	99.99	1
PTCHD1	99.97	1
PTDSS1	99.95	1
PTEN	99.89	1
PTPN11	99.98	1
PTPN23	100.00	1
PTPN4	98.20	1
PTRH2	99.99	1
PTRHD1	100.00	1
PTS	99.93	1
PUF60	100.00	1
PUM1	98.14	1
PURA	100.00	1
PUS1	100.00	1
PUS3	100.00	1
PUS7	99.89	1
PYCR1	99.99	1
PYCR2	99.95	1
QARS1	100.00	1
QDPR	99.92	1
QRICH1	100.00	1
RAB11B	100.00	1
RAB18	99.76	1
RAB23	99.97	1
RAB27A	99.94	1
RAB39B	99.99	1
RAB3GAP1	99.73	1
RAB3GAP2	99.69	1
RABGAP1	99.99	1
RAC1	99.75	1
NCOA3	100.00	1
RAD21	99.91	1
RAF1	99.97	1
RAI1	98.56	1
RALA	99.69	1
RALGAPA1	99.73	1
RARB	99.99	1
RARS2	99.88	1
RBBP8	99.91	1
RBFOX1	99.95	1
RBM10	99.98	1
RBM28	99.99	1
RBPJ	99.96	1
RCBTB1	99.99	1
RELN	99.98	1
RERE	99.94	1
RFT1	99.79	1
RFX3	99.95	1
RFX4	99.95	1
RFX7	99.99	1
RHEB	99.97	1
RHOBTB2	100.00	1
RIMS2	99.97	1
RIT1	99.78	1
RLIM	99.93	1
RMND1	99.92	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNASET2	99.99	1
RNF113A	99.99	1
RNF125	99.98	1
RNF13	99.81	1
RNF220	99.68	1
RNPC3	88.90	1
RNU4ATAC	99.95	1
RNU7-1	33.90	1
ROGDI	99.98	1
RORA	99.97	1
RORB	99.86	1
RPGRIP1L	96.35	1
RPIA	99.84	1
RPL15	84.91	1
RPS19	100.00	1
RPS6KA3	98.93	1
RRAS2	99.94	1
RRM2B	99.97	1
RSPRY1	99.73	1
RSRC1	99.95	1
RTEL1	100.00	1
RTN4IP1	99.98	1
RTTN	99.93	1
RUBCN	100.00	1
RUSC2	99.99	1
RXYLT1	99.48	1
SALL1	100.00	1
SAMD9	99.93	1
SAMHD1	99.98	1
SARS1	98.53	1
SATB1	100.00	1
SATB2	99.96	1
SBDS	99.93	1
SBF1	99.99	1
SC5D	99.97	1
SCAF4	99.91	1
SCAMP5	99.99	1
SCAPER	99.75	1
SCARB2	99.99	1
SCN1A	99.94	1
SCN1B	99.98	1
SCN2A	99.86	1
SCN3A	99.76	1
SCN8A	99.77	1
SCO1	99.98	1
SCO2	100.00	1
SCYL1	100.00	1
SDCCAG8	100.00	1
SDHA	99.98	1
SDHAF1	99.99	1
SEMA3E	99.13	1
SEMA6B	99.98	1
SEPSECS	99.78	1
SERAC1	99.90	1
SERPINI1	99.98	1
SET	78.28	1
SETBP1	100.00	1
SETD1A	99.99	1
SETD1B	99.99	1
SETD2	99.91	1
SETD5	99.99	1
SFXN4	99.97	1
SGPL1	99.95	1
SGSH	100.00	1
SHANK1	99.99	1
SHANK2	99.97	1
SHANK3	98.45	1
SHH	100.00	1
SHMT2	99.92	1
SHOC2	99.96	1
SHROOM4	99.78	1
SIAH1	100.00	1
SIK1	3.83	1
SIL1	99.95	1
SIN3A	99.97	1
SIN3B	99.98	1
SIX3	100.00	1
HHAT	99.98	1
SLC12A2	99.55	1
SLC12A5	99.99	1
SLC12A6	99.98	1
SLC13A5	99.99	1
SLC16A1	99.26	1
SLC16A2	99.97	1
SLC17A5	99.71	1
SLC19A3	99.95	1
SLC1A1	99.98	1
SLC1A2	99.95	1
SLC1A4	99.97	1
SLC25A1	99.93	1
SLC25A12	99.72	1
SLC25A19	99.99	1
SLC25A20	100.00	1
SLC25A22	100.00	1
SLC25A42	99.99	1
SLC2A1	99.93	1
SLC33A1	99.67	1
SLC35A1	99.81	1
SLC35A2	99.97	1
SLC35A3	94.67	1
SLC35C1	100.00	1
SLC39A14	92.87	1
SLC39A8	99.95	1
SLC46A1	100.00	1
SLC4A4	99.97	1
SLC5A6	100.00	1
SLC6A1	99.96	1
SLC6A17	99.79	1
SLC6A19	99.99	1
SLC6A3	99.96	1
SLC6A8	99.99	1
SLC6A9	99.93	1
SLC7A7	99.99	1
SLC9A6	99.42	1
SLC9A7	99.91	1
SMAD4	99.97	1
SMAD6	100.00	1
SMARCA2	99.95	1
SMARCA4	99.99	1
SMARCA5	99.81	1
SMARCB1	99.99	1
SMARCC2	99.73	1
SMARCD1	99.81	1
SMARCE1	99.87	1
SMC1A	99.98	1
SMC3	99.91	1
SMG8	99.92	1
SMG9	99.99	1
SMOC1	100.00	1
SMPD1	100.00	1
SMPD4	99.90	1
SNAP25	99.89	1
SNAP29	99.85	1
SNIP1	99.96	1
SNORD118	100.00	1
SNRPN	99.97	1
SNX14	99.73	1
SNX27	99.59	1
SOBP	99.99	1
SON	99.95	1
SOS1	99.68	1
SOS2	99.39	1
SOX10	100.00	1
SOX11	100.00	1
SOX2	100.00	1
SOX3	100.00	1
SOX4	99.36	1
SOX5	99.96	1
SOX6	99.89	1
SPART	99.98	1
SPAST	99.77	1
AFG2A	99.82	1
SPATA5L1	99.91	1
SPECC1L	99.98	1
SPEN	99.98	1
SPG11	99.89	1
SPOP	99.85	1
SPR	99.99	1
SPRED1	99.99	1
SPTAN1	99.96	1
SPTBN1	99.98	1
SPTBN2	99.98	1
SPTBN4	99.91	1
SRCAP	99.99	1
SRD5A3	99.94	1
SRPX2	99.95	1
SRRM2	99.98	1
SSR4	99.99	1
ST3GAL3	99.98	1
ST3GAL5	99.96	1
STAG1	99.88	1
STAG2	99.08	1
STAMBP	99.95	1
STEEP1	99.89	1
STIL	99.11	1
STRA6	99.95	1
STRADA	99.98	1
STT3A	99.99	1
STT3B	99.96	1
STX1B	99.97	1
STXBP1	99.99	1
SUCLA2	99.96	1
SUCLG1	99.64	1
SUFU	100.00	1
SUMF1	99.95	1
SUOX	100.00	1
SUPT16H	99.97	1
SURF1	100.00	1
SUZ12	98.58	1
SVBP	99.04	1
SYN1	99.98	1
SYNCRIP	99.93	1
SYNE1	99.95	1
SYNGAP1	99.96	1
SYNJ1	99.91	1
SYP	99.99	1
SYT1	99.70	1
SYT14	99.94	1
SZT2	99.88	1
TAF1	99.84	1
TAF13	95.71	1
TAF1C	100.00	1
TAF2	99.72	1
TAF6	99.96	1
TAFAZZIN	99.98	1
TANC2	99.85	1
TANGO2	99.85	1
TAOK1	99.77	1
TASP1	99.86	1
TAT	99.99	1
TBC1D20	100.00	1
TBC1D23	98.70	1
TBC1D24	100.00	1
TBC1D2B	99.94	1
TBC1D7	99.90	1
TBCD	100.00	1
TBCE	99.91	1
TBCK	99.75	1
TBL1XR1	99.92	1
TBP	99.98	1
TBR1	99.99	1
TBX1	99.95	1
TCF20	100.00	1
TCF4	98.56	1
TCF7L2	99.69	1
TCN2	100.00	1
TCTN1	99.92	1
TCTN2	99.99	1
TCTN3	99.92	1
TDP2	99.97	1
TECPR2	99.96	1
TECR	99.99	1
TELO2	99.99	1
TENM3	99.99	1
TET3	99.95	1
TFAP2A	100.00	1
TFE3	99.87	1
TGDS	99.86	1
TGFBR1	99.94	1
TGFBR2	99.98	1
TGIF1	100.00	1
TH	99.99	1
THOC2	99.11	1
THOC6	99.94	1
THRA	100.00	1
THRB	99.82	1
TIAM1	99.99	1
TIMM50	99.99	1
TIMM8A	100.00	1
TINF2	100.00	1
DDR2	97.39	1
TLK2	98.83	1
TMCO1	99.48	1
TMEM106B	99.92	1
TMEM107	100.00	1
TMEM138	100.00	1
TMEM165	99.97	1
TMEM216	99.98	1
TMEM222	99.93	1
TMEM231	88.88	1
TMEM237	99.30	1
TMEM240	99.99	1
TMEM63A	99.91	1
TMEM67	99.69	1
TMEM70	99.99	1
TMEM94	99.96	1
TMLHE	77.23	1
TMTC3	97.80	1
TMX2	99.99	1
TNIK	99.93	1
TNK2	99.98	1
TNPO2	99.99	1
TNR	99.80	1
TNRC6B	99.99	1
TOE1	99.96	1
TOGARAM1	99.93	1
TOR1A	100.00	1
TP53RK	81.09	1
TP73	100.00	1
TPI1	99.95	1
TPK1	99.96	1
THPO	100.00	1
ACD	99.99	1
TRAF7	99.97	1
TRAIP	99.97	1
TRAK1	99.98	1
TRAPPC10	84.42	1
TRAPPC11	99.93	1
TRAPPC12	99.96	1
TRAPPC2L	100.00	1
TRAPPC4	100.00	1
TRAPPC6B	99.74	1
TRAPPC9	99.98	1
TREX1	100.00	1
TRIM32	100.00	1
TRIM8	99.82	1
TRIO	99.98	1
TRIP12	99.62	1
TRIP4	99.97	1
TRIT1	99.25	1
TRMT1	100.00	1
TRMT10A	99.90	1
TRMT10C	99.55	1
TRNT1	99.97	1
TRPM3	99.89	1
TRPM6	99.93	1
TRRAP	99.79	1
TSC1	99.99	1
TSC2	99.98	1
TSEN15	99.57	1
TSEN2	99.98	1
TSEN34	100.00	1
TSEN54	100.00	1
TSFM	100.00	1
TSHB	99.95	1
TSPAN7	99.97	1
TTC19	99.99	1
TTC21B	99.50	1
SKIC3	99.82	1
TTC5	100.00	1
TTC8	99.67	1
TTI1	100.00	1
TTI2	99.94	1
TUBA1A	99.97	1
TUBB	100.00	1
TUBB2A	87.26	1
TUBB2B	87.69	1
TUBB3	100.00	1
TUBB4A	100.00	1
TUBG1	99.95	1
TUBGCP2	96.54	1
TUBGCP4	99.80	1
TUBGCP6	100.00	1
TUFM	100.00	1
TUSC3	99.96	1
TWIST1	100.00	1
TWNK	100.00	1
U2AF2	99.98	1
UBA5	99.95	1
UBE2A	99.77	1
UBE3A	99.23	1
UBE3B	99.99	1
UBE4A	99.99	1
UBR1	99.93	1
UBR7	99.96	1
UBTF	99.99	1
UFC1	99.35	1
UFM1	99.25	1
UFSP2	99.74	1
UGDH	99.77	1
UGP2	99.85	1
UMPS	99.90	1
UNC80	98.04	1
UPB1	100.00	1
UPF3B	99.26	1
UQCRQ	99.96	1
UROC1	99.99	1
USP18	93.05	1
USP27X	99.99	1
USP7	99.90	1
USP9X	99.84	1
VAMP1	100.00	1
VAMP2	100.00	1
VARS1	99.99	1
VLDLR	99.99	1
VPS11	99.99	1
VPS13B	99.90	1
VPS16	100.00	1
VPS37A	99.96	1
VPS41	99.92	1
VPS4A	99.98	1
VPS53	100.00	1
VRK1	99.98	1
WAC	99.76	1
WARS2	97.72	1
WASF1	99.86	1
WASHC4	99.84	1
WASHC5	99.98	1
WDFY3	99.93	1
WDR19	99.80	1
WDR26	96.29	1
WDR37	99.94	1
WDR4	99.95	1
WDR45	99.99	1
WDR45B	100.00	1
WDR5	100.00	1
WDR62	99.96	1
WDR73	99.92	1
WDR81	100.00	1
WFS1	99.99	1
WNT1	99.97	1
WWOX	100.00	1
XK	99.98	1
XPA	99.68	1
XPNPEP3	99.99	1
XRCC4	99.89	1
XYLT1	99.98	1
XYLT2	99.97	1
YAP1	99.87	1
YIF1B	99.80	1
YIPF5	99.99	1
YME1L1	99.87	1
YWHAG	99.99	1
YY1	100.00	1
ZBTB11	99.97	1
ZBTB16	100.00	1
ZBTB18	99.41	1
ZBTB20	100.00	1
ZBTB24	99.99	1
ZC3H14	99.96	1
ZC4H2	99.98	1
ZDHHC9	99.61	1
ZEB2	99.97	1
ZFHX3	99.96	1
ZFHX4	99.99	1
ZFYVE26	100.00	1
ZIC1	99.99	1
ZIC2	100.00	1
ZMIZ1	99.92	1
ZMYM2	99.88	1
ZMYND11	99.99	1
ZNF142	100.00	1
ZNF148	99.85	1
ZNF292	99.91	1
ZNF335	100.00	1
ZNF407	99.98	1
ZNF423	98.94	1
ZNF462	99.99	1
ZNF526	100.00	1
ZNF699	100.00	1
ZNF711	99.43	1
ZSWIM6	98.94	1

Leukodystrophy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS2	99.98	1
ABAT	99.98	1
ABCD1	99.98	1
ACBD5	99.97	1
ACER3	99.76	1
ACOX1	99.98	1
ACP5	100.00	1
ACTL6B	99.90	1
ADAR	99.84	1
ADGRG1	99.90	1
ADSL	99.93	1
AGA	99.92	1
AIFM1	99.92	1
AIMP1	99.97	1
AIMP2	99.99	1
ALDH3A2	99.95	1
ALDH5A1	96.19	1
APP	99.92	1
ARSA	99.99	1
ASAH1	99.90	1
ASPA	99.98	1
ATAD3A	99.62	1
ATP7A	99.87	1
ATP7B	100.00	1
AUH	99.95	1
B3GALNT2	92.79	1
BCAP31	99.95	1
BCS1L	99.99	1
BOLA3	99.22	1
BTD	100.00	1
CBS	17.79	1
CIC	98.32	1
CLCN2	100.00	1
CLN3	99.92	1
CLN5	100.00	1
CLN6	100.00	1
CLN8	100.00	1
CNP	99.98	1
CNTNAP1	99.98	1
COA8	99.94	1
COL4A1	99.99	1
COL4A2	99.98	1
COX10	99.99	1
COX15	100.00	1
CYP21A2	99.91	1
CSF1R	99.92	1
CTC1	100.00	1
CTSA	99.98	1
CTSD	100.00	1
CTSF	99.96	1
CYP27A1	100.00	1
DAG1	100.00	1
DARS1	98.85	1
DARS2	98.31	1
DCAF17	99.84	1
DDHD2	99.97	1
DEGS1	99.99	1
DGUOK	99.93	1
DLAT	99.65	1
DLD	99.89	1
DMXL2	99.86	1
DNAJC5	99.99	1
EARS2	99.96	1
ECHS1	100.00	1
EIF2AK1	99.90	1
EIF2AK2	99.70	1
EIF2B1	99.98	1
EIF2B2	99.90	1
EIF2B3	97.26	1
EIF2B4	99.96	1
EIF2B5	99.98	1
EPRS1	99.53	1
ERCC2	99.98	1
ERCC3	99.90	1
ERCC6	99.60	1
ERCC8	99.79	1
FA2H	99.98	1
HYCC1	99.81	1
FAR1	99.82	1
FARS2	100.00	1
FASTKD2	99.93	1
FBXL4	100.00	1
FDX2	99.99	1
CFH	99.97	1
FIG4	99.83	1
FKTN	99.94	1
FLVCR2	100.00	1
FOLR1	100.00	1
FUCA1	98.72	1
GALC	99.92	1
GALT	100.00	1
GAN	99.98	1
GBE1	99.73	1
GFAP	99.99	1
GFM1	99.95	1
GFM2	99.87	1
GJA1	100.00	1
GJB1	100.00	1
GJC2	100.00	1
GLA	99.90	1
GLB1	100.00	1
GM2A	100.00	1
GNAS	100.00	1
GPHN	99.94	1
GRN	100.00	1
GTF2H5	100.00	1
HEPACAM	100.00	1
HEXA	99.99	1
HEXB	99.91	1
HIKESHI	99.78	1
HLCS	99.97	1
HMGCL	99.31	1
HSD17B4	99.71	1
HSPD1	83.42	1
HTRA1	100.00	1
IBA57	100.00	1
IFIH1	99.84	1
IKBKG	57.34	1
ISCA2	100.00	1
IVD	100.00	1
JAM3	100.00	1
KARS1	99.98	1
L2HGDH	99.92	1
LAMA2	99.95	1
LARGE1	100.00	1
LARS2	99.96	1
LIPT1	99.89	1
LIPT2	99.99	1
LMNB1	99.73	1
LYRM7	99.98	1
MAN2B1	99.99	1
MANBA	99.81	1
MARS2	100.00	1
MCOLN1	100.00	1
MFSD8	99.70	1
MLC1	99.99	1
MMUT	99.68	1
MOCS1	99.95	1
MOCS2	99.96	1
MPLKIP	99.99	1
MPV17	99.98	1
MRPS34	100.00	1
MTFMT	99.98	1
MTHFR	99.97	1
MTO1	90.25	1
NAXD	99.99	1
NAXE	99.99	1
NDUFA2	99.95	1
NDUFA9	100.00	1
NDUFAF1	100.00	1
NDUFAF3	100.00	1
NDUFAF4	99.95	1
NDUFAF6	99.86	1
NDUFS1	99.79	1
NDUFS2	99.66	1
NDUFS4	99.99	1
NDUFS7	99.99	1
NDUFS8	100.00	1
NDUFV1	99.99	1
NEU1	99.98	1
NKX6-2	100.00	1
NOTCH3	99.99	1
NPC1	99.99	1
NPC2	100.00	1
NTNG2	99.98	1
NUBPL	99.62	1
OCLN	82.91	1
OCRL	99.89	1
PAH	99.96	1
PARS2	99.99	1
PCCA	99.90	1
PCCB	99.97	1
PDGFB	99.99	1
PDGFRB	99.99	1
PDHA1	99.04	1
PDHB	99.94	1
PDHX	99.64	1
PDP1	100.00	1
PEX1	98.80	1
PEX10	100.00	1
PEX11B	99.62	1
PEX12	100.00	1
PEX13	99.36	1
PEX14	100.00	1
PEX16	99.94	1
PEX19	99.25	1
PEX2	100.00	1
PEX26	100.00	1
PEX3	99.85	1
PEX5	99.89	1
PEX6	99.99	1
PEX7	99.72	1
PLEKHG2	99.99	1
PLP1	99.98	1
PLPBP	99.99	1
PMPCB	99.94	1
PNPT1	99.56	1
POLG	100.00	1
POLR1C	100.00	1
POLR3A	99.97	1
POLR3B	99.94	1
POLR3K	100.00	1
POMGNT1	99.69	1
POMT1	99.96	1
POMT2	99.98	1
PPT1	97.48	1
PRF1	100.00	1
PSAP	99.94	1
PSAT1	99.98	1
PSPH	99.09	1
PYCR2	99.95	1
QDPR	99.92	1
RARS1	99.76	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNASET2	99.99	1
SAMHD1	99.98	1
SCP2	94.94	1
SDHA	99.98	1
SDHAF1	99.99	1
SDHAF2	99.96	1
SDHB	97.32	1
SDHD	82.93	1
SEPSECS	99.78	1
SGO1	99.90	1
SHANK3	98.45	1
SLC13A3	99.98	1
SLC16A2	99.97	1
SLC17A5	99.71	1
SLC20A2	99.95	1
SLC25A12	99.72	1
SLC44A1	99.90	1
SLC7A2	99.97	1
SNAP29	99.85	1
SNORD118	100.00	1
SOX10	100.00	1
SPG11	99.89	1
STN1	99.88	1
STX11	100.00	1
STXBP2	100.00	1
SUCLA2	99.96	1
SUMF1	99.95	1
SUOX	100.00	1
SURF1	100.00	1
TACO1	100.00	1
TMEM106B	99.92	1
TMEM63A	99.91	1
ACD	99.99	1
TREM2	100.00	1
TREX1	100.00	1
TSEN54	100.00	1
TTR	100.00	1
TUBB4A	100.00	1
TWNK	100.00	1
TYMP	99.87	1
TYROBP	99.95	1
UBTF	99.99	1
UFM1	99.25	1
UNC13D	100.00	1
VPS11	99.99	1
WARS2	97.72	1
WT1	99.99	1
XPR1	99.13	1
ZFYVE26	100.00	1

Movement Disorders - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS1	99.99	1
ACTB	100.00	1
ACTL6B	99.90	1
ADAR	99.84	1
ADCY5	99.98	1
ADH1C	99.94	1
AFG3L2	99.97	1
ALDH5A1	96.19	1
ANO3	99.98	1
AP3D1	100.00	1
AP4M1	99.98	1
APTX	99.92	1
ARSA	99.99	1
ARV1	99.85	1
ARX	95.36	1
ATM	99.83	1
ATP13A2	99.96	1
ATP1A3	99.98	1
ATP6AP2	99.55	1
ATP7B	100.00	1
ATP8A2	100.00	1
ATXN2	99.88	1
AUH	99.95	1
BCAP31	99.95	1
BCS1L	99.99	1
C19ORF12	99.99	1
CACNA1A	99.98	1
CACNA1B	100.00	1
CACNA1E	99.82	1
CARS2	99.99	1
CHCHD2	99.89	1
CHMP2B	99.80	1
CHRNA4	100.00	1
CHRNB2	99.99	1
CIZ1	99.94	1
CLPB	99.97	1
CNTNAP1	99.98	1
COASY	99.98	1
COL6A3	99.99	1
COQ9	99.62	1
COX10	99.99	1
COX15	100.00	1
CP	99.95	1
CRAT	99.99	1
CSF1R	99.92	1
CTC1	100.00	1
CYP27A1	100.00	1
DCAF17	99.84	1
DCTN1	99.98	1
DDC	99.67	1
DEGS1	99.99	1
DHDDS	98.65	1
DHX30	99.96	1
DLAT	99.65	1
DLD	99.89	1
DMXL2	99.86	1
DNAJC13	99.86	1
DNAJC5	99.99	1
DNAJC6	99.48	1
DNAL4	99.89	1
DRD3	100.00	1
EARS2	99.96	1
ECHS1	100.00	1
EEF1A2	100.00	1
EIF4G1	100.00	1
EPRS1	99.53	1
ETHE1	84.97	1
FA2H	99.98	1
FASTKD2	99.93	1
FBXO7	99.98	1
FITM2	99.99	1
FOXG1	99.91	1
FOXRED1	100.00	1
FTL	99.99	1
FUCA1	98.72	1
FUS	99.93	1
GABRB2	99.92	1
GAMT	100.00	1
GBA1	96.92	1
GBE1	99.73	1
GCDH	100.00	1
GCH1	99.94	1
GFAP	99.99	1
GFM2	99.87	1
GIGYF2	99.94	1
GJC2	100.00	1
GLB1	100.00	1
GRID2	100.00	1
GM2A	100.00	1
GNAL	100.00	1
GNAO1	99.86	1
GNB1	100.00	1
GPR88	100.00	1
GRIN1	100.00	1
GRIN2B	99.99	1
GRN	100.00	1
GSX2	100.00	1
GTPBP2	99.98	1
HEXA	99.99	1
HIBCH	99.70	1
HPRT1	97.80	1
HSD17B10	99.98	1
HTRA2	99.99	1
HTT	99.98	1
IFIH1	99.84	1
IREB2	99.90	1
IRF2BPL	99.21	1
JAM2	91.82	1
JPH3	100.00	1
KCNA4	100.00	1
KCNMA1	99.89	1
KCNQ2	100.00	1
KCTD17	100.00	1
KMT2B	99.99	1
LIPT1	99.89	1
LIPT2	99.99	1
LRP10	99.99	1
LRPPRC	99.80	1
LRRK2	99.44	1
LYST	99.87	1
MAPT	99.80	1
MAT1A	99.70	1
MCOLN1	100.00	1
MDH2	99.54	1
MECP2	99.95	1
MECR	99.63	1
MED20	99.99	1
MICU1	99.56	1
MMADHC	99.76	1
MPV17	99.98	1
MRE11	99.93	1
MRPS34	100.00	1
MYBPC1	99.77	1
MYORG	99.99	1
NAXD	99.99	1
NDUFA1	99.93	1
NDUFA10	99.98	1
NDUFA12	99.21	1
NDUFA9	100.00	1
NDUFAF4	99.95	1
NDUFAF6	99.86	1
NDUFS1	99.79	1
NDUFS3	100.00	1
NDUFS7	99.99	1
NDUFS8	100.00	1
NHLRC2	99.83	1
NKX2-1	100.00	1
NKX6-2	100.00	1
NPC1	99.99	1
NPC2	100.00	1
NTNG2	99.98	1
NUP62	100.00	1
PANK2	99.99	1
PARK7	99.93	1
PCCA	99.90	1
PCCB	99.97	1
PCDH12	100.00	1
PCDH19	99.98	1
PDE10A	87.37	1
PDE8B	99.98	1
PDGFB	99.99	1
PDGFRB	99.99	1
PDHA1	99.04	1
PDHX	99.64	1
PEAR1	99.89	1
PEX16	99.94	1
PINK1	99.69	1
PLA2G6	99.98	1
PLEKHG2	99.99	1
PLP1	99.98	1
PMPCB	99.94	1
PNKD	100.00	1
PNKP	100.00	1
PNPLA8	99.92	1
PNPT1	99.56	1
PODXL	93.29	1
POLG	100.00	1
POLR3A	99.97	1
PON1	99.70	1
PRKN	99.99	1
PRKRA	99.94	1
PRNP	100.00	1
PRRT2	99.97	1
PTRHD1	100.00	1
PTS	99.93	1
QDPR	99.92	1
RAB11B	100.00	1
RAB39B	99.99	1
RAD51	90.17	1
RELN	99.98	1
REPS1	99.93	1
RHOBTB2	100.00	1
RIC3	100.00	1
RNF216	99.99	1
SCN11A	99.94	1
SCN4A	99.98	1
SCN8A	99.77	1
SCP2	94.94	1
SDHA	99.98	1
SDHAF1	99.99	1
SDHD	82.93	1
SEPSECS	99.78	1
SERAC1	99.90	1
SETX	99.97	1
SGCE	93.12	1
SLC18A2	100.00	1
SLC19A3	99.95	1
SLC20A2	99.95	1
SLC25A42	99.99	1
SLC2A1	99.93	1
SLC30A10	99.99	1
SLC30A9	99.75	1
SLC39A14	92.87	1
SLC44A1	99.90	1
SLC6A3	99.96	1
SLC6A8	99.99	1
SMPD1	100.00	1
SNCA	99.97	1
SNCAIP	99.99	1
SPG11	99.89	1
SPR	99.99	1
SQSTM1	100.00	1
STUB1	99.99	1
SUCLA2	99.96	1
SUOX	100.00	1
SURF1	100.00	1
SYNJ1	99.91	1
SYT1	99.70	1
TAF1	99.84	1
TANGO2	99.85	1
TBC1D24	100.00	1
TENM4	99.99	1
TH	99.99	1
THAP1	99.96	1
TIMM8A	100.00	1
TOR1A	100.00	1
TPI1	99.95	1
TPK1	99.96	1
TRAK1	99.98	1
TRAPPC11	99.93	1
TRAPPC12	99.96	1
TRIT1	99.25	1
TSEN2	99.98	1
TSFM	100.00	1
TUBB4A	100.00	1
TXN2	99.88	1
UBA5	99.95	1
UBTF	99.99	1
UCHL1	99.99	1
UFM1	99.25	1
UGDH	99.77	1
UQCRQ	99.96	1
VAC14	99.91	1
VAMP2	100.00	1
VCP	99.99	1
VPS13A	99.68	1
VPS13C	99.65	1
VPS13D	99.96	1
VPS16	100.00	1
VPS35	99.83	1
WARS2	97.72	1
WDR45	99.99	1
WDR73	99.92	1
XK	99.98	1
XPR1	99.13	1
YY1	100.00	1
ZC4H2	99.98	1
ZNF142	100.00	1

Movement Disorders - ULG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AARS1	100.00	0
ABAT	100.00	0
ACTB	100.00	0
ACTL6B	100.00	0
ADAR	100.00	0
ADCY5	94.82	0
ADPRS	97.19	0
AFG3L2	95.73	0
AGTPBP1	97.48	0
AIMP1	100.00	0
ALDH5A1	91.82	0
ALG13	99.52	0
ALG6	100.00	0
ALS2	100.00	0
AMT	100.00	0
ANO3	99.99	0
AOPEP	98.17	0
AP3D1	100.00	0
AP4M1	100.00	0
AP5Z1	100.00	0
APTX	100.00	0
ARG1	100.00	0
ARHGEF9	100.00	0
ARSA	100.00	0
ARV1	100.00	0
ARX	76.27	0
ASAH1	100.00	0
ASNS	100.00	0
ASS1	100.00	0
ATAD1	100.00	0
ATCAY	100.00	0
ATM	100.00	0
ATN1	100.00	0
ATP13A2	99.13	0
ATP1A2	99.91	0
ATP1A3	100.00	0
ATP6AP2	98.93	0
ATP7B	100.00	0
ATP8A2	100.00	0
ATXN2	97.08	0
AUH	98.84	0
BCAP31	100.00	0
BCKDHA	100.00	0
BCKDHB	100.00	0
BCS1L	100.00	0
BSCL2	100.00	0
BTK	100.00	0
C19ORF12	100.00	0
C9ORF72	100.00	0
CA8	100.00	0
CACNA1A	100.00	0
CACNA1B	95.99	0
CACNA1E	99.97	0
CACNA1G	100.00	0
CACNB4	100.00	0
CARS2	95.22	0
CBS	100.00	0
CDKL5	99.33	0
CEP290	99.99	0
CHCHD2	100.00	0
CHMP2B	100.00	0
CHRNA2	99.97	0
CHRNA4	99.98	0
CHRNB2	100.00	0
CIZ1	99.96	0
CLCN2	100.00	0
CLCN3	100.00	0
CLCN6	100.00	0
CLPB	100.00	0
CLTC	100.00	0
CNTNAP1	100.00	0
COASY	100.00	0
COL6A3	100.00	0
COQ8A	100.00	0
COQ9	100.00	0
COX10	100.00	0
COX15	100.00	0
COX20	100.00	0
CP	99.98	0
CRAT	100.00	0
CRH	100.00	0
CRLF1	89.13	0
CSF1R	100.00	0
CSTB	100.00	0
CTC1	100.00	0
CTDP1	90.20	0
CTNNB1	100.00	0
CTSA	100.00	0
CTSD	100.00	0
CTSF	89.18	0
CUL4B	98.64	0
CWF19L1	100.00	0
CYB5R3	95.77	0
CYFIP2	100.00	0
CYP27A1	99.38	0
DARS1	100.00	0
DBT	100.00	0
DCAF17	99.11	0
DCC	100.00	0
DCTN1	100.00	0
DDC	100.00	0
DEGS1	100.00	0
DEPDC5	100.00	0
DHDDS	100.00	0
DHX30	100.00	0
DLAT	100.00	0
DLD	100.00	0
DMXL2	99.99	0
DNAJB2	100.00	0
DNAJC12	100.00	0
DNAJC13	100.00	0
DNAJC19	100.00	0
DNAJC5	100.00	0
DNAJC6	100.00	0
DNAL4	100.00	0
DNM1L	100.00	0
DNMT1	99.83	0
EARS2	100.00	0
ECHS1	100.00	0
EEF1A2	98.47	0
ELOVL4	100.00	0
EPRS1	100.00	0
ETHE1	100.00	0
FA2H	92.84	0
FARS2	100.00	0
FASTKD2	100.00	0
FBXL4	100.00	0
FBXO7	100.00	0
FGF14	100.00	0
FITM2	100.00	0
FOLR1	100.00	0
FOXG1	87.63	0
FOXRED1	100.00	0
FRRS1L	87.33	0
FTL	100.00	0
FUCA1	99.67	0
FUS	100.00	0
FXN	96.07	0
GABRA2	100.00	0
GABRB2	100.00	0
GALT	100.00	0
GAMT	98.07	0
GBA1	100.00	0
GBE1	100.00	0
GCDH	100.00	0
GCH1	98.16	0
GFAP	100.00	0
GFM1	100.00	0
GFM2	99.99	0
GJC2	88.27	0
GLB1	100.00	0
GLDC	97.21	0
GLRA1	100.00	0
GLRB	100.00	0
GM2A	100.00	0
GNAL	100.00	0
GNAO1	100.00	0
GNB1	100.00	0
GOSR2	100.00	0
GPHN	100.00	0
GPR88	77.04	0
GRID2	100.00	0
GRIN1	100.00	0
GRIN2B	100.00	0
GRN	100.00	0
GSX2	100.00	0
GTPBP2	99.48	0
HECW2	100.00	0
HEXA	100.00	0
HEXB	99.87	0
HIBCH	100.00	0
HPRT1	97.15	0
HSD17B10	100.00	0
HTT	99.18	0
IFIH1	100.00	0
IREB2	100.00	0
IRF2BPL	99.88	0
IVD	100.00	0
JAM2	100.00	0
JPH3	100.00	0
KCNA1	100.00	0
KCNA2	100.00	0
KCNA4	100.00	0
KCNC3	78.67	0
KCND3	100.00	0
KCNMA1	100.00	0
KCNQ2	100.00	0
KCNT1	99.92	0
KCTD17	95.63	0
KCTD7	99.64	0
KIF1C	100.00	0
KIF5A	100.00	0
KMT2B	96.75	0
L2HGDH	100.00	0
LIAS	100.00	0
LIPT1	100.00	0
LIPT2	92.08	0
LMNB1	98.51	0
LRPPRC	100.00	0
LRRK2	100.00	0
LYST	100.00	0
MAPT	100.00	0
MARS2	100.00	0
MCEE	100.00	0
MCOLN1	98.10	0
MDH2	100.00	0
MECP2	100.00	0
MECR	100.00	0
MED20	100.00	0
MEF2C	100.00	0
MFSD8	100.00	0
MICU1	100.00	0
MMAA	100.00	0
MMAB	100.00	0
MMADHC	100.00	0
MMUT	100.00	0
MPV17	100.00	0
MRE11	100.00	0
MRPS34	99.28	0
MTHFR	100.00	0
MTR	100.00	0
MTRFR	100.00	0
MTRR	100.00	0
MYBPC1	100.00	0
MYORG	100.00	0
NALCN	100.00	0
NAXD	100.00	0
NDUFA1	100.00	0
NDUFA10	99.52	0
NDUFA12	100.00	0
NDUFA2	100.00	0
NDUFA9	100.00	0
NDUFAF2	100.00	0
NDUFAF4	100.00	0
NDUFAF5	100.00	0
NDUFAF6	95.34	0
NDUFS1	100.00	0
NDUFS3	100.00	0
NDUFS4	100.00	0
NDUFS7	100.00	0
NDUFS8	100.00	0
NDUFV1	100.00	0
NEU1	100.00	0
NGLY1	100.00	0
NHLRC2	100.00	0
NKX2-1	89.99	0
NKX6-2	70.62	0
NPC1	100.00	0
NPC2	100.00	0
NTN1	94.10	0
NTNG2	91.87	0
NUP62	100.00	0
MED12	100.00	0
OPA3	100.00	0
PAH	100.00	0
PANK2	95.70	0
PARK7	100.00	0
PODXL	96.85	0
PCBD1	92.74	0
PCCA	100.00	0
PCCB	100.00	0
PCDH12	100.00	0
PCDH19	100.00	0
PDE10A	100.00	0
PDE2A	100.00	0
PDE8B	97.56	0
PDGFB	100.00	0
PDGFRB	100.00	0
PDHA1	100.00	0
PDHB	100.00	0
PDHX	100.00	0
PDYN	100.00	0
PEX16	100.00	0
PGK1	100.00	0
PIGP	100.00	0
PINK1	91.10	0
PLA2G6	100.00	0
PLEKHG2	100.00	0
PLP1	100.00	0
PMM2	100.00	0
PMPCB	100.00	0
PNKD	100.00	0
PNKP	100.00	0
PNPLA8	100.00	0
PNPT1	100.00	0
POLG	100.00	0
POLR1C	100.00	0
POLR3A	100.00	0
PPT1	100.00	0
PRICKLE1	100.00	0
PRKCG	100.00	0
PRKN	100.00	0
PRKRA	100.00	0
PRNP	100.00	0
PRRT2	100.00	0
PTRHD1	100.00	0
PTS	100.00	0
PUM1	100.00	0
PURA	88.25	0
QDPR	99.38	0
RAB11B	100.00	0
RAB39B	100.00	0
RAD51	100.00	0
RELN	100.00	0
REPS1	100.00	0
RHOBTB2	100.00	0
RNF216	100.00	0
SACS	100.00	0
SCARB2	100.00	0
SCN11A	99.99	0
SCN1A	100.00	0
SCN2A	100.00	0
SCN4A	100.00	0
SCN8A	100.00	0
SCP2	100.00	0
SCYL1	100.00	0
SDHA	98.70	0
SDHAF1	96.31	0
SDHD	100.00	0
SEPSECS	100.00	0
SERAC1	100.00	0
SETD5	100.00	0
SETX	100.00	0
SGCE	100.00	0
SLC16A2	100.00	0
SLC18A2	100.00	0
SLC19A3	99.96	0
SLC1A3	100.00	0
SLC20A2	100.00	0
SLC25A19	100.00	0
SLC25A42	99.96	0
SLC2A1	100.00	0
SLC30A10	100.00	0
SLC30A9	100.00	0
SLC39A14	99.95	0
SLC39A8	99.72	0
SLC44A1	97.36	0
SLC6A1	100.00	0
SLC6A3	100.00	0
SLC6A5	100.00	0
SLC6A8	96.54	0
SLC9A6	97.84	0
SMPD1	100.00	0
SNCA	100.00	0
SPG11	100.00	0
SPOP	100.00	0
SPR	97.94	0
SPTBN2	100.00	0
SQSTM1	95.44	0
SRD5A3	98.74	0
ST3GAL5	92.43	0
STUB1	99.46	0
STXBP1	100.00	0
SUCLA2	100.00	0
SUCLG1	99.97	0
SUMF1	100.00	0
SUOX	100.00	0
SURF1	92.90	0
SYNE1	100.00	0
SYNJ1	100.00	0
SYT1	100.00	0
TACO1	99.96	0
TAF1	100.00	0
TANGO2	100.00	0
TARDBP	100.00	0
TBC1D24	100.00	0
TBK1	100.00	0
TBL1XR1	100.00	0
TENM4	100.00	0
TGM6	100.00	0
TH	100.00	0
THAP1	100.00	0
TIMM8A	100.00	0
TMEM240	100.00	0
TOR1A	100.00	0
TPI1	100.00	0
TPK1	100.00	0
TRAK1	100.00	0
TRAPPC11	100.00	0
TRAPPC12	100.00	0
TREM2	100.00	0
TRIT1	100.00	0
TSC1	100.00	0
TSC2	100.00	0
TSEN2	100.00	0
TSEN54	94.95	0
TSFM	92.64	0
TTPA	87.42	0
TUBB4A	100.00	0
TXN2	100.00	0
TYROBP	100.00	0
UBA5	100.00	0
UBQLN2	99.91	0
UBR4	99.78	0
UBTF	100.00	0
UFM1	100.00	0
UGDH	100.00	0
UNC13A	99.92	0
UQCRQ	100.00	0
VAC14	100.00	0
VAMP1	100.00	0
VAMP2	100.00	0
VCP	98.45	0
VPS13A	100.00	0
VPS13C	100.00	0
VPS13D	100.00	0
VPS16	100.00	0
VPS35	100.00	0
VPS41	100.00	0
VPS4A	100.00	0
VWA3B	100.00	0
WARS2	100.00	0
WDR45	100.00	0
WDR73	100.00	0
WDR81	100.00	0
WWOX	100.00	0
XK	99.86	0
XPA	99.77	0
XPC	100.00	0
XPR1	100.00	0
YY1	100.00	0
ZC4H2	100.00	0
ZFYVE26	100.00	0
ZNF142	100.00	0

Neurodegeneration (99 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ANG	100.00	1	NM_001145.4
ANXA11	100.00	1	NM_145868.2
APP	100.00	1	NM_000484.4
ATP13A2	100.00	1	NM_022089.4
CHMP2B	100.00	1	NM_014043.4
DCTN1	100.00	1	NM_004082.4
ERBB4	100.00	1	NM_005235.3
FIG4	100.00	1	NM_014845.6
FUS	100.00	1	NM_004960.4
GBA1	100.00	1	NM_000157.4
GRN	100.00	1	NM_002087.3
KIF5A	100.00	1	NM_004984.4
LRRK2	100.00	1	NM_198578.4
MAPT	100.00	1	NM_001123066.3
MATR3	100.00	1	NM_018834.6
NEFH	100.00	1	NM_021076.4
NEK1	100.00	1	NM_001199397.3
NOTCH3	100.00	1	NM_000435.3
OPTN	100.00	1	NM_001008212.2
PARK7	100.00	1	NM_007262.5
PFN1	100.00	1	NM_005022.4
PINK1	100.00	1	NM_032409.3
PRKN	100.00	1	NM_004562.3
PRNP	100.00	1	NM_000311.5
PRPH	100.00	1	NM_006262.4
PSEN1	100.00	1	NM_000021.4
PSEN2	100.00	1	NM_000447.3
SETX	100.00	1	NM_015046.7
SIGMAR1	100.00	1	NM_005866.4
SNCA	100.00	1	NM_000345.4
SOD1	100.00	1	NM_000454.5
SPG11	100.00	1	NM_025137.4
TARDBP	100.00	1	NM_007375.4
TUBA4A	100.00	1	NM_006000.3
UBQLN2	100.00	1	NM_013444.3
VAPB	100.00	1	NM_004738.5
VCP	100.00	1	NM_007126.5
AARS2	100.00	1	NM_020745.4
ABAT	100.00	1	NM_020686.6
ABCB7	100.00	1	NM_001271696.3
ABCD1	100.00	1	NM_000033.4
ADPRS	100.00	1	NM_017825.3
AFG3L2	100.00	1	NM_006796.3
AP5Z1	100.00	1	NM_014855.3
APOE	100.00	1	NM_000041.4
ARSA	100.00	1	NM_000487.6
ATP1A3	100.00	1	NM_152296.5
ATP6AP2	100.00	1	NM_005765.3
C19ORF12	100.00	1	NM_031448.6
C9ORF72	100.00	1	NM_018325.5
CCNF	100.00	1	NM_001761.3
CHCHD10	100.00	1	NM_213720.3
CHCHD2	100.00	1	NM_016139.4
CLN3	100.00	1	NM_001042432.2
CLN5	100.00	1	NM_006493.4
CLN6	100.00	1	NM_017882.3
CLN8	100.00	1	NM_018941.4
COA7	100.00	1	NM_023077.3
COASY	100.00	1	NM_025233.7
CRAT	100.00	1	NM_000755.5
CSF1R	100.00	1	NM_005211.3
CTSD	100.00	1	NM_001909.5
CTSF	100.00	1	NM_003793.4
DNAJC13	100.00	1	NM_015268.4
DNAJC5	100.00	1	NM_025219.3
DNAJC6	100.00	1	NM_001256864.2
EIF4G1	100.00	1	NM_198241.3
FA2H	100.00	1	NM_024306.5
FBXO7	100.00	1	NM_012179.4
FTL	100.00	1	NM_000146.4
FXN	100.00	1	NM_000144.5
GCH1	100.00	1	NM_000161.3
GIGYF2	100.00	1	NM_001103146.3
GLUD2	100.00	1	NM_012084.4
GRID2	100.00	1	NM_001510.4
IREB2	100.00	1	NM_004136.4
ITM2B	100.00	1	NM_021999.5
KLC4	100.00	1	NM_201521.3
MFSD8	100.00	1	NM_001371596.2
NPC1	100.00	1	NM_000271.5
NPC2	100.00	1	NM_006432.5
PANK2	100.00	1	NM_153638.3
PGAP1	100.00	1	NM_024989.4
PLA2G6	100.00	1	NM_003560.4
PODXL	94.00	1	NM_001018111.3
POLG	100.00	1	NM_001126131.2
PPT1	100.00	1	NM_000310.4
RAB18	100.00	1	NM_021252.5
REPS1	100.00	1	NM_001286611.1
SLC6A3	100.00	1	NM_001044.5
SPG21	100.00	1	NM_016630.7
SQSTM1	100.00	1	NM_003900.5
SYNJ1	100.00	1	NM_003895.3
TBK1	100.00	1	NM_013254.4
UBTF	100.00	1	NM_014233.4
UCHL1	100.00	1	NM_004181.5
VPS13C	100.00	1	NM_020821.3
VPS35	100.00	1	NM_018206.6
WDR45	100.00	1	NM_001029896.2

Progressive Myoclonic Epilepsy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ASAH1	99.90	1
ATP13A2	99.96	1
BSCL2	99.99	1
CACNA1A	98.16	1
CERS1	100.00	1
CLN3	99.92	1
CLN5	100.00	1
CLN6	100.00	1
CLN8	100.00	1
CSTB	100.00	1
CTSD	100.00	1
CTSF	99.96	1
DNAJC5	99.99	1
EPM2A	99.99	1
FARS2	100.00	1
GBA1	96.92	1
GOSR2	98.92	1
GRN	100.00	1
KCNC1	100.00	1
KCTD7	99.98	1
KIF5A	99.91	1
LMNB2	99.99	1
MFSD8	99.70	1
MTFMT	99.98	1
NEU1	99.98	1
NHLRC1	100.00	1
PPT1	97.48	1
PRICKLE1	99.87	1
PRNP	100.00	1
SACS	99.97	1
SCARB2	99.99	1
SERPINI1	99.98	1
TBC1D24	100.00	1
ACD	99.99	1