SPTBN4 | Belgian Genetic Tests database

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Name:	spectrin beta, non-erythrocytic 4
Symbol:	SPTBN4
XREF(s):	OMIM HGNC ORPHANET
Created:	06 Jan 2021 - 14:58
Changed:	06 Jan 2021 - 14:58

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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

Myopathy (332 genes) - IPG

Details

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

Neuromuscular disorders (548 genes) - ULB

Details

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

Neuromuscular disorders (232 genes) - KUL

Details

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

Neuromuscular disorders - UGent

Details

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

Neuropathy (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS1	99.94	1
ABCA1	99.92	1
ABHD12	99.11	1
ADPRS	100.00	1
AGTPBP1	99.40	1
AIFM1	99.43	1
ARHGEF10	100.00	1
ARSA	100.00	1
ATL1	99.95	1
ATL3	99.86	1
ATM	99.83	1
ATP1A1	99.94	1
ATP7A	99.35	1
B4GALNT1	99.95	1
BAG3	100.00	1
BICD2	100.00	1
BSCL2	100.00	1
CADM3	99.94	1
CD59	99.97	1
CFAP276	99.73	1
CHCHD10	97.06	1
CLTCL1	99.98	1
CNTNAP1	99.80	1
COA7	100.00	1
COX20	99.40	1
COX6A1	99.99	1
CTDP1	98.02	1
CTNNB1	99.98	1
CYP27A1	99.96	1
DARS2	99.86	1
DCAF8	99.98	1
DCTN1	99.95	1
DGAT2	99.99	1
DGUOK	99.76	1
DHTKD1	99.88	1
DNAJB2	100.00	1
DNAJC3	99.58	1
DNM2	99.96	1
DNMT1	99.88	1
DRP2	99.45	1
DST	99.92	1
DYNC1H1	99.97	1
EGR2	100.00	1
ELP1	99.96	1
ETFDH	99.76	1
FBLN5	92.79	1
FBXO38	99.93	1
FGD4	99.89	1
FIG4	99.94	1
FLVCR1	99.93	1
FXN	97.92	1
GALC	99.88	1
GAN	99.84	1
GARS1	99.86	1
GBA2	99.97	1
GBE1	99.84	1
GBF1	99.95	1
GDAP1	99.93	1
GJB1	99.99	1
GJB3	100.00	1
GJC2	96.12	1
GLA	99.64	1
GNB4	99.95	1
GSN	97.83	1
HADHA	99.96	1
HADHB	99.97	1
HARS1	99.99	1
HINT1	99.96	1
HK1	96.86	1
HNRNPA1	100.00	1
HOXD10	100.00	1
HSPB1	99.83	1
HSPB3	100.00	1
HSPB8	99.90	1
IARS2	99.96	1
IFRD1	99.96	1
IGHMBP2	99.99	1
INF2	97.15	1
ITPR3	99.88	1
JAG1	99.92	1
KIF1A	99.96	1
KIF5A	99.93	1
LITAF	100.00	1
LMNA	99.98	1
LRSAM1	99.97	1
LYST	99.92	1
MCM3AP	99.96	1
MFN2	99.96	1
MMACHC	99.99	1
MME	97.69	1
MORC2	99.98	1
MPV17	100.00	1
MPZ	99.97	1
MTMR2	99.98	1
MTRFR	99.85	1
MYH14	99.79	1
NAGA	99.99	1
NAGLU	98.00	1
NARS1	99.74	1
NDRG1	100.00	1
NEFH	98.77	1
NEFL	99.99	1
NGF	99.99	1
NTRK1	99.67	1
PCYT2	97.60	1
PDK3	98.86	1
PEX7	99.87	1
PHYH	99.65	1
PIEZO2	99.88	1
PLD3	99.99	1
PLEKHG5	99.66	1
PLP1	99.93	1
PMM2	99.94	1
PMP2	99.95	1
PMP22	100.00	1
PNKP	100.00	1
PNPLA6	99.88	1
POLG	99.98	1
POLR3B	99.88	1
PPOX	99.94	1
PRDM12	99.60	1
PRKCG	99.90	1
PRNP	100.00	1
PRPS1	99.79	1
PRX	99.94	1
PTEN	99.15	1
PTPN11	99.91	1
PTRH2	99.97	1
RAB7A	99.94	1
REEP1	99.99	1
RETREG1	99.92	1
RFC1	99.44	1
SACS	99.98	1
SBF1	99.97	1
SBF2	99.92	1
SCARB2	99.94	1
SCN10A	99.97	1
SCN11A	99.77	1
SCN9A	99.96	1
SCO2	100.00	1
SCYL1	99.64	1
SEPTIN9	99.94	1
SETX	99.96	1
SH3TC2	99.98	1
SIGMAR1	99.99	1
SLC12A6	99.88	1
SLC25A19	99.99	1
SLC25A46	99.93	1
SLC52A2	100.00	1
SLC52A3	100.00	1
SLC5A7	99.97	1
SORD	92.86	1
SOX10	100.00	1
SPAST	99.83	1
SPG11	99.94	1
SPG7	99.99	1
SPTAN1	99.97	1
SPTBN4	99.19	1
SPTLC1	99.98	1
SPTLC2	99.94	1
SPTLC3	99.94	1
SURF1	97.64	1
SYT2	99.89	1
TBCE	99.69	1
TBCK	99.76	1
TECPR2	99.90	1
TFG	99.34	1
TRIM2	99.99	1
TRPV4	99.96	1
TTPA	99.97	1
TTR	100.00	1
TUBB3	100.00	1
TWNK	100.00	1
UCHL1	99.99	1
VAPB	99.94	1
VCP	99.92	1
VPS13A	99.60	1
VRK1	99.94	1
VWA1	91.35	1
WARS1	99.79	1
WNK1	99.94	1
XRCC1	99.94	1
YARS1	99.96	1
ZFHX2	99.98	1
ZFYVE26	99.96	1

Neuropathy panel - UGent

Details

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