COX8A

Analyte Export to PDF

Name:	cytochrome c oxidase subunit 8A
Symbol:	COX8A
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	COX COX8-2 COX8L VIII VIII-L
XREF(s):	Orphanet HGNC OMIM Genatlas SwissProt Reactome Ensembl
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Early onset epileptic encephalopathy (gene panel - 845 genes)
• Mitochondrial disorders (gene panel)
• Myopathy (gene panel)
• Neuromuscular disorders (548 genes)

Related Diseases

• Isolated cytochrome C oxidase deficiency

Related Gene Panels

• Early onset epileptic encephalopathy (845 genes) - ULB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AAAS	100.00	0	No comment
  AARS1	100.00	0	No comment
  AARS2	99.75	0	No comment
  AASS	100.00	0	No comment
  ABAT	100.00	0	No comment
  ABCB1	100.00	0	No comment
  ABCC8	100.00	0	No comment
  ABCD1	97.56	0	No comment
  ACADM	99.87	0	No comment
  ACADS	97.51	0	No comment
  ACADSB	100.00	0	No comment
  ACO2	100.00	0	No comment
  ACOX1	100.00	0	No comment
  ACSF3	99.86	0	No comment
  ACTB	100.00	0	No comment
  ACTG1	100.00	0	No comment
  ACVR1	100.00	0	No comment
  ACY1	100.00	0	No comment
  ADAR	100.00	0	No comment
  COQ8A	99.92	0	No comment
  ADK	100.00	0	No comment
  ADRA2B	100.00	0	No comment
  ADSL	100.00	0	No comment
  AFG3L2	94.80	0	No comment
  AGA	100.00	0	No comment
  AGTR2	100.00	0	No comment
  AHI1	100.00	0	No comment
  AIFM1	99.98	0	No comment
  AIMP1	99.97	0	No comment
  AKT2	100.00	0	No comment
  AKT3	100.00	0	No comment
  ALDH18A1	100.00	0	No comment
  ALDH3A2	99.94	0	No comment
  ALDH4A1	96.50	0	No comment
  ALDH5A1	84.13	0	No comment
  ALDH7A1	100.00	0	No comment
  ALG1	78.28	0	No comment
  ALG11	100.00	0	No comment
  ALG12	100.00	0	No comment
  ALG13	99.53	0	No comment
  ALG2	99.83	0	No comment
  ALG3	93.20	0	No comment
  ALG6	100.00	0	No comment
  ALG8	100.00	0	No comment
  ALG9	98.18	0	No comment
  ALMS1	99.85	0	No comment
  AMACR	96.78	0	No comment
  AMER1	99.97	0	No comment
  AMT	100.00	0	No comment
  ANKH	100.00	0	No comment
  ANKRD11	100.00	0	No comment
  AP3B2	98.68	0	No comment
  AP4E1	99.99	0	No comment
  APTX	99.96	0	No comment
  AR	100.00	0	No comment
  ARFGEF2	100.00	0	No comment
  ARG1	100.00	0	No comment
  ARHGEF15	100.00	0	No comment
  ARHGEF9	99.92	0	No comment
  ARID1A	97.21	0	No comment
  ARID1B	98.17	0	No comment
  ARL13B	99.98	0	No comment
  ARSA	100.00	0	No comment
  SLURP1	87.81	0	No comment
  ARV1	100.00	0	No comment
  ARX	88.86	0	No comment
  ASAH1	100.00	0	No comment
  ASL	99.96	0	No comment
  ASNS	97.93	0	No comment
  ASPA	100.00	0	No comment
  ASPM	100.00	0	No comment
  ASS1	98.12	0	No comment
  ASXL1	99.93	0	No comment
  ATAD1	100.00	0	No comment
  ATIC	97.39	0	No comment
  ATN1	99.99	0	No comment
  ATP13A2	98.30	0	No comment
  ATP1A2	99.94	0	No comment
  ATP1A3	100.00	0	No comment
  ATP2A2	100.00	0	No comment
  ATP5F1A	99.63	0	No comment
  ATP6AP2	98.57	0	No comment
  ATP6V0A2	99.97	0	No comment
  ATP7A	100.00	0	No comment
  ATPAF2	100.00	0	No comment
  ANTXR1	99.97	0	No comment
  ATRX	99.89	0	No comment
  ATXN10	98.19	0	No comment
  ATXN2	93.25	0	No comment
  AUH	99.24	0	No comment
  AVPR2	99.37	0	No comment
  B3GALNT2	92.96	0	No comment
  B3GNT2	100.00	0	No comment
  B4GALT1	100.00	0	No comment
  BCAP31	99.81	0	No comment
  BCKDHA	99.90	0	No comment
  BCKDHB	100.00	0	No comment
  BCKDK	100.00	0	No comment
  BCS1L	100.00	0	No comment
  BOLA3	80.60	0	No comment
  BRAF	96.83	0	No comment
  BRAT1	99.93	0	No comment
  BRD2	94.60	0	No comment
  BSCL2	100.00	0	No comment
  BTD	100.00	0	No comment
  BUB1B	100.00	0	No comment
  TWNK	100.00	0	No comment
  C12ORF57	100.00	0	No comment
  MTRFR	100.00	0	No comment
  CPLANE1	100.00	0	No comment
  CACNA1A	99.53	0	No comment
  CACNA1D	99.81	0	No comment
  CACNA1G	99.97	0	No comment
  CACNA1H	98.10	0	No comment
  CACNA2D1	100.00	0	No comment
  CACNA2D2	95.58	0	No comment
  CACNB4	99.95	0	No comment
  CAD	100.00	0	No comment
  CARS2	98.73	0	No comment
  KNL1	97.89	0	No comment
  CASK	99.99	0	No comment
  CASQ2	99.96	0	No comment
  CASR	100.00	0	No comment
  CBL	100.00	0	No comment
  CBS	99.85	0	No comment
  CC2D2A	100.00	0	No comment
  CCBE1	99.32	0	No comment
  CCDC88C	99.64	0	No comment
  CCL2	100.00	0	No comment
  CCM2	99.47	0	No comment
  CDK5RAP2	100.00	0	No comment
  CDKL5	99.77	0	No comment
  CDON	100.00	0	No comment
  CELSR1	95.69	0	No comment
  CENPJ	100.00	0	No comment
  CEP135	99.96	0	No comment
  CEP152	100.00	0	No comment
  CEP164	99.89	0	No comment
  CEP290	100.00	0	No comment
  CEP41	100.00	0	No comment
  CEP63	100.00	0	No comment
  CERS1	87.45	0	No comment
  CHD2	100.00	0	No comment
  CHD8	100.00	0	No comment
  CHKB	99.75	0	No comment
  CHMP1A	100.00	0	No comment
  CHRNA2	99.99	0	No comment
  CHRNA4	94.66	0	No comment
  CHRNA7	97.02	0	No comment
  CHRNB2	99.44	0	No comment
  CIC	99.22	0	No comment
  CLCN1	100.00	0	No comment
  CLCN2	100.00	0	No comment
  CLCN4	100.00	0	No comment
  CLCNKA	99.99	0	No comment
  CLCNKB	99.96	0	No comment
  CLDN16	100.00	0	No comment
  CLIC2	99.96	0	No comment
  CLN3	100.00	0	No comment
  CLN5	98.80	0	No comment
  CLN6	100.00	0	No comment
  CLN8	100.00	0	No comment
  CLPP	97.95	0	No comment
  CNKSR2	99.82	0	No comment
  CNNM2	100.00	0	No comment
  CNTN2	100.00	0	No comment
  CNTNAP2	99.10	0	No comment
  COA5	100.00	0	No comment
  COG1	99.01	0	No comment
  COG4	100.00	0	No comment
  COG5	99.95	0	No comment
  COG6	100.00	0	No comment
  COG7	100.00	0	No comment
  COG8	99.96	0	No comment
  COL18A1	99.86	0	No comment
  COL4A1	98.48	0	No comment
  COL4A2	100.00	0	No comment
  COQ2	99.66	0	No comment
  COQ4	100.00	0	No comment
  COQ6	100.00	0	No comment
  COQ9	100.00	0	No comment
  COX10	100.00	0	No comment
  COX14	100.00	0	No comment
  COX15	99.99	0	No comment
  COX20	95.39	0	No comment
  COX6B1	100.00	0	No comment
  COX8A	100.00	0	No comment
  CYP2A6	100.00	0	No comment
  CYP21A2	100.00	0	No comment
  CPT1A	100.00	0	No comment
  CPT2	98.55	0	No comment
  CRH	99.37	0	No comment
  CRLF1	89.19	0	No comment
  CSNK1G1	100.00	0	No comment
  CSPP1	99.98	0	No comment
  CSTB	98.75	0	No comment
  CTC1	99.70	0	No comment
  CTSA	99.94	0	No comment
  CTSD	93.41	0	No comment
  CTSF	90.14	0	No comment
  CUL4B	99.51	0	No comment
  CYP27A1	99.38	0	No comment
  CYP27B1	99.05	0	No comment
  D2HGDH	99.95	0	No comment
  DARS2	100.00	0	No comment
  DBT	100.00	0	No comment
  DCHS1	99.86	0	No comment
  DCX	99.94	0	No comment
  DDC	100.00	0	No comment
  DDOST	100.00	0	No comment
  DDX3X	100.00	0	No comment
  DENND5A	99.04	0	No comment
  DEPDC5	100.00	0	No comment
  DHCR24	98.73	0	No comment
  DHCR7	99.97	0	No comment
  DHFR	91.86	0	No comment
  DIAPH1	99.95	0	No comment
  DLD	100.00	0	No comment
  DLGAP2	99.95	0	No comment
  DMD	99.96	0	No comment
  DNAJC5	100.00	0	No comment
  DNAJC6	99.98	0	No comment
  DNM1	93.52	0	No comment
  DNM1L	100.00	0	No comment
  DOCK6	99.15	0	No comment
  DOCK7	98.80	0	No comment
  DOLK	100.00	0	No comment
  DPAGT1	100.00	0	No comment
  DPM1	100.00	0	No comment
  DPM2	100.00	0	No comment
  DPM3	100.00	0	No comment
  DPYD	100.00	0	No comment
  DPYS	99.47	0	No comment
  DYNC1H1	99.92	0	No comment
  DYRK1A	100.00	0	No comment
  EARS2	100.00	0	No comment
  ECM1	100.00	0	No comment
  EEF1A2	99.08	0	No comment
  EFHC1	100.00	0	No comment
  EFHC2	99.79	0	No comment
  EFTUD2	99.99	0	No comment
  EHMT1	97.78	0	No comment
  EIF2B1	100.00	0	No comment
  EIF2B2	99.61	0	No comment
  EIF2B3	98.87	0	No comment
  EIF2B4	100.00	0	No comment
  EIF2B5	100.00	0	No comment
  EIF2S3	100.00	0	No comment
  ELOVL4	100.00	0	No comment
  ELP4	100.00	0	No comment
  EML1	98.26	0	No comment
  EMX2	99.97	0	No comment
  EOMES	100.00	0	No comment
  EPG5	100.00	0	No comment
  EPM2A	97.21	0	No comment
  EPRS	100.00	0	No comment
  ERBB4	100.00	0	No comment
  ERLIN2	100.00	0	No comment
  ERMARD	100.00	0	No comment
  ETFA	100.00	0	No comment
  ETFB	100.00	0	No comment
  ETFDH	100.00	0	No comment
  ETHE1	97.84	0	No comment
  EXOC6B	99.94	0	No comment
  EXOSC3	100.00	0	No comment
  EZH2	100.00	0	No comment
  FA2H	95.71	0	No comment
  FADD	90.35	0	No comment
  HYCC1	100.00	0	No comment
  FARS2	100.00	0	No comment
  FASN	99.95	0	No comment
  FASTKD2	100.00	0	No comment
  FAT4	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FGD1	99.24	0	No comment
  FGF12	99.90	0	No comment
  FGF8	94.19	0	No comment
  FGFR3	99.24	0	No comment
  FH	100.00	0	No comment
  FKRP	100.00	0	No comment
  FKTN	100.00	0	No comment
  FLNA	99.75	0	No comment
  FLVCR2	99.87	0	No comment
  FMR1	99.99	0	No comment
  FOLR1	100.00	0	No comment
  FOXG1	92.10	0	No comment
  FOXH1	100.00	0	No comment
  FOXRED1	100.00	0	No comment
  FRRS1L	82.37	0	No comment
  FTL	100.00	0	No comment
  FTO	100.00	0	No comment
  FUCA1	99.91	0	No comment
  GABBR2	96.91	0	No comment
  GABRA1	100.00	0	No comment
  GABRA3	99.59	0	No comment
  GABRB1	99.97	0	No comment
  GABRB2	100.00	0	No comment
  GABRB3	100.00	0	No comment
  GABRD	92.59	0	No comment
  GABRG2	91.70	0	No comment
  GAL	100.00	0	No comment
  GALC	98.98	0	No comment
  GALNS	94.36	0	No comment
  GAMT	97.00	0	No comment
  GATA3	100.00	0	No comment
  GATA6	87.61	0	No comment
  GATAD2B	100.00	0	No comment
  GATM	98.74	0	No comment
  GBA1	100.00	0	No comment
  GCDH	100.00	0	No comment
  GCH1	99.71	0	No comment
  GCK	99.13	0	No comment
  GCM2	100.00	0	No comment
  GCSH	73.97	0	No comment
  GFAP	100.00	0	No comment
  GFM1	100.00	0	No comment
  GJC2	96.72	0	No comment
  GLA	100.00	0	No comment
  GLB1	100.00	0	No comment
  GLDC	97.39	0	No comment
  GLI2	96.28	0	No comment
  GLI3	100.00	0	No comment
  GLRA1	100.00	0	No comment
  GLRB	100.00	0	No comment
  GLUD1	96.22	0	No comment
  GLUL	100.00	0	No comment
  GLYCTK	98.86	0	No comment
  GM2A	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNAO1	100.00	0	No comment
  GNB1	100.00	0	No comment
  GNE	100.00	0	No comment
  GNPTAB	99.91	0	No comment
  GNPTG	95.92	0	No comment
  GNS	100.00	0	No comment
  GOSR2	100.00	0	No comment
  GPC3	99.72	0	No comment
  GPHN	100.00	0	No comment
  ADGRG1	99.99	0	No comment
  ADGRV1	100.00	0	No comment
  GRIA3	99.99	0	No comment
  GRIN1	99.80	0	No comment
  GRIN2A	100.00	0	No comment
  GRIN2B	100.00	0	No comment
  GRIN2D	77.00	0	No comment
  GRINA	100.00	0	No comment
  GRN	100.00	0	No comment
  GSS	100.00	0	No comment
  GTPBP3	99.60	0	No comment
  GUF1	100.00	0	No comment
  GUSB	97.13	0	No comment
  HACE1	98.41	0	No comment
  HADH	100.00	0	No comment
  HAX1	100.00	0	No comment
  HCCS	100.00	0	No comment
  HCFC1	99.85	0	No comment
  HCN1	99.93	0	No comment
  HCN4	97.56	0	No comment
  HDAC4	99.86	0	No comment
  HDAC8	99.75	0	No comment
  HEPACAM	99.85	0	No comment
  HERC2	97.66	0	No comment
  HESX1	100.00	0	No comment
  HEXA	100.00	0	No comment
  HEXB	99.19	0	No comment
  HGSNAT	94.10	0	No comment
  HLCS	100.00	0	No comment
  HMBS	100.00	0	No comment
  HMGCL	100.00	0	No comment
  HNRNPH1	100.00	0	No comment
  HNRNPH2	100.00	0	No comment
  HNRNPU	99.82	0	No comment
  HPD	100.00	0	No comment
  HRAS	100.00	0	No comment
  HSD17B10	100.00	0	No comment
  HSD17B4	100.00	0	No comment
  HSPD1	95.18	0	No comment
  HTRA2	100.00	0	No comment
  HYAL1	100.00	0	No comment
  IDH2	93.11	0	No comment
  IDS	99.88	0	No comment
  IDUA	91.86	0	No comment
  IER3IP1	99.44	0	No comment
  ELP1	100.00	0	No comment
  INPP5E	99.14	0	No comment
  INS	97.76	0	No comment
  INSR	96.68	0	No comment
  IQSEC2	98.53	0	No comment
  CRPPA	95.50	0	No comment
  ITPA	100.00	0	No comment
  IVD	100.00	0	No comment
  JAM3	99.88	0	No comment
  JRK	100.00	0	No comment
  KANSL1	100.00	0	No comment
  KAT6B	100.00	0	No comment
  KCNA1	100.00	0	No comment
  KCNA2	100.00	0	No comment
  KCNAB1	100.00	0	No comment
  KCNB1	98.34	0	No comment
  KCNC1	100.00	0	No comment
  KCND2	100.00	0	No comment
  KCNH1	100.00	0	No comment
  KCNH2	98.15	0	No comment
  KCNH5	100.00	0	No comment
  KCNJ1	100.00	0	No comment
  KCNJ10	100.00	0	No comment
  KCNJ11	100.00	0	No comment
  KCNK18	100.00	0	No comment
  KCNMA1	99.93	0	No comment
  KCNQ2	99.92	0	No comment
  KCNQ3	98.20	0	No comment
  KCNT1	98.96	0	No comment
  KCNV2	100.00	0	No comment
  KCTD7	100.00	0	No comment
  KDM5C	99.97	0	No comment
  KDM6A	99.72	0	No comment
  RUBCN	96.60	0	No comment
  KIFBP	100.00	0	No comment
  NEXMIF	100.00	0	No comment
  KIF11	100.00	0	No comment
  KIF2A	99.97	0	No comment
  KIF4A	99.86	0	No comment
  KIF5C	100.00	0	No comment
  KIF7	99.64	0	No comment
  KMT2B	98.33	0	No comment
  KMT2D	99.98	0	No comment
  KPTN	100.00	0	No comment
  KRAS	100.00	0	No comment
  KRIT1	100.00	0	No comment
  L1CAM	99.98	0	No comment
  L2HGDH	99.75	0	No comment
  LAMA2	100.00	0	No comment
  LAMB1	100.00	0	No comment
  LAMC3	98.42	0	No comment
  LARGE1	100.00	0	No comment
  LBR	100.00	0	No comment
  LGI1	100.00	0	No comment
  LIAS	100.00	0	No comment
  LIG1	99.86	0	No comment
  LIG4	100.00	0	No comment
  LMBRD1	100.00	0	No comment
  LMNB2	95.84	0	No comment
  LRFN1	99.79	0	No comment
  LRFN2	100.00	0	No comment
  LRFN3	99.92	0	No comment
  LRFN4	98.83	0	No comment
  LRFN5	100.00	0	No comment
  LRP2	99.71	0	No comment
  LRPPRC	98.80	0	No comment
  MAGI2	94.89	0	No comment
  MAGT1	100.00	0	No comment
  MAN1B1	99.81	0	No comment
  MAP2K1	100.00	0	No comment
  MAP2K2	99.99	0	No comment
  MAPK10	100.00	0	No comment
  MBD5	100.00	0	No comment
  MBOAT7	99.93	0	No comment
  MBTPS2	100.00	0	No comment
  MCCC1	99.77	0	No comment
  MCOLN1	95.75	0	No comment
  MCPH1	99.70	0	No comment
  MDH2	94.63	0	No comment
  ME2	100.00	0	No comment
  MECP2	96.46	0	No comment
  MED12	99.98	0	No comment
  MED17	100.00	0	No comment
  MEF2C	100.00	0	No comment
  MFF	100.00	0	No comment
  MFSD8	100.00	0	No comment
  MGAT2	100.00	0	No comment
  MGME1	100.00	0	No comment
  MLC1	98.57	0	No comment
  MLYCD	96.09	0	No comment
  MMACHC	100.00	0	No comment
  MMADHC	100.00	0	No comment
  MOCS1	99.94	0	No comment
  MOCS2	100.00	0	No comment
  MOGS	98.86	0	No comment
  MPDU1	100.00	0	No comment
  MPDZ	100.00	0	No comment
  MPI	100.00	0	No comment
  MSX2	100.00	0	No comment
  MTHFR	100.00	0	No comment
  MTOR	100.00	0	No comment
  MTR	100.00	0	No comment
  MTRR	100.00	0	No comment
  MMUT	99.99	0	No comment
  MYO5A	99.67	0	No comment
  NAA10	96.95	0	No comment
  NACC1	100.00	0	No comment
  NAGA	100.00	0	No comment
  NAGLU	96.69	0	No comment
  NALCN	100.00	0	No comment
  NARS2	99.88	0	No comment
  NDE1	100.00	0	No comment
  NDP	100.00	0	No comment
  NDUFA1	100.00	0	No comment
  NDUFA10	96.45	0	No comment
  NDUFA11	80.54	0	No comment
  NDUFA12	100.00	0	No comment
  NDUFA2	100.00	0	No comment
  NDUFA9	100.00	0	No comment
  NDUFAF1	100.00	0	No comment
  NDUFAF2	100.00	0	No comment
  NDUFAF3	100.00	0	No comment
  NDUFAF4	99.26	0	No comment
  NDUFAF5	99.96	0	No comment
  NDUFAF6	95.61	0	No comment
  NDUFB3	98.57	0	No comment
  NDUFS1	100.00	0	No comment
  NDUFS2	100.00	0	No comment
  NDUFS3	100.00	0	No comment
  NDUFS4	99.96	0	No comment
  NDUFS6	100.00	0	No comment
  NDUFS7	93.34	0	No comment
  NDUFS8	100.00	0	No comment
  NDUFV1	99.62	0	No comment
  NDUFV2	100.00	0	No comment
  NECAP1	100.00	0	No comment
  NEDD4L	98.66	0	No comment
  NEU1	100.00	0	No comment
  NF1	98.78	0	No comment
  NFIX	94.60	0	No comment
  NGLY1	99.96	0	No comment
  NHEJ1	100.00	0	No comment
  NHLRC1	96.01	0	No comment
  NIN	100.00	0	No comment
  NIPA2	100.00	0	No comment
  NIPBL	99.48	0	No comment
  NLGN4X	100.00	0	No comment
  NLGN4Y	60.20	0	No comment
  NODAL	99.87	0	No comment
  NOTCH3	93.46	0	No comment
  NPC1	97.50	0	No comment
  NPC2	100.00	0	No comment
  NPHP1	100.00	0	No comment
  NPRL2	100.00	0	No comment
  NPRL3	100.00	0	No comment
  NRAS	100.00	0	No comment
  NRXN1	99.87	0	No comment
  NSD1	100.00	0	No comment
  NSDHL	100.00	0	No comment
  NUBPL	99.92	0	No comment
  OCLN	100.00	0	No comment
  OCRL	98.81	0	No comment
  OFD1	97.13	0	No comment
  OPHN1	99.94	0	No comment
  OTC	99.17	0	No comment
  OTX2	100.00	0	No comment
  PACS2	99.96	0	No comment
  PAFAH1B1	100.00	0	No comment
  PAH	100.00	0	No comment
  PAK3	98.75	0	No comment
  PANK2	100.00	0	No comment
  PAX6	100.00	0	No comment
  PODXL	100.00	0	No comment
  PCBD1	85.60	0	No comment
  PCCA	99.94	0	No comment
  PCCB	99.54	0	No comment
  PCDH19	98.99	0	No comment
  PCNT	99.88	0	No comment
  PDCD10	100.00	0	No comment
  PDE6D	100.00	0	No comment
  PDGFB	97.18	0	No comment
  PDGFRB	99.98	0	No comment
  PDHA1	92.64	0	No comment
  PDHX	100.00	0	No comment
  PDP1	100.00	0	No comment
  PDSS1	85.11	0	No comment
  PDSS2	100.00	0	No comment
  PET100	100.00	0	No comment
  PEX1	100.00	0	No comment
  PEX10	87.10	0	No comment
  PEX11B	100.00	0	No comment
  PEX12	100.00	0	No comment
  PEX13	100.00	0	No comment
  PEX14	99.31	0	No comment
  PEX16	99.97	0	No comment
  PEX19	100.00	0	No comment
  PEX2	100.00	0	No comment
  PEX26	100.00	0	No comment
  PEX3	100.00	0	No comment
  PEX5	100.00	0	No comment
  PEX6	99.74	0	No comment
  PEX7	95.60	0	No comment
  PGAP2	100.00	0	No comment
  PGAP3	98.48	0	No comment
  PGK1	99.88	0	No comment
  PGM1	100.00	0	No comment
  PHF6	100.00	0	No comment
  PHGDH	100.00	0	No comment
  PIGA	98.95	0	No comment
  PIGL	100.00	0	No comment
  PIGM	100.00	0	No comment
  PIGN	100.00	0	No comment
  PIGO	100.00	0	No comment
  PIGP	100.00	0	No comment
  PIGQ	100.00	0	No comment
  PIGT	100.00	0	No comment
  PIGV	100.00	0	No comment
  PIK3AP1	99.71	0	No comment
  PIK3CA	100.00	0	No comment
  PIK3R2	88.52	0	No comment
  PLA2G6	100.00	0	No comment
  PLCB1	100.00	0	No comment
  PLP1	100.00	0	No comment
  PMM2	100.00	0	No comment
  PNKP	99.84	0	No comment
  PNPO	100.00	0	No comment
  POLG	100.00	0	No comment
  POLG2	100.00	0	No comment
  POLR3A	100.00	0	No comment
  POLR3B	100.00	0	No comment
  POMC	100.00	0	No comment
  POMGNT1	100.00	0	No comment
  POMGNT2	100.00	0	No comment
  POMK	100.00	0	No comment
  POMT1	100.00	0	No comment
  POMT2	99.53	0	No comment
  PPFIA1	100.00	0	No comment
  PPFIA2	100.00	0	No comment
  PPFIA3	96.20	0	No comment
  PPFIA4	100.00	0	No comment
  PPFIBP1	100.00	0	No comment
  PPFIBP2	100.00	0	No comment
  PPP2R2C	99.91	0	No comment
  PPT1	100.00	0	No comment
  PQBP1	99.91	0	No comment
  PRDM8	88.36	0	No comment
  PRF1	100.00	0	No comment
  PRICKLE1	100.00	0	No comment
  PRICKLE2	100.00	0	No comment
  PRODH	88.26	0	No comment
  PLPBP	99.89	0	No comment
  PRRT2	100.00	0	No comment
  PSAP	100.00	0	No comment
  PSAT1	99.61	0	No comment
  PSPH	100.00	0	No comment
  PTCH1	98.82	0	No comment
  PTEN	99.45	0	No comment
  PTH	100.00	0	No comment
  PTPN11	94.43	0	No comment
  PTS	99.91	0	No comment
  PURA	95.47	0	No comment
  QARS1	100.00	0	No comment
  QDPR	98.39	0	No comment
  RAB18	99.99	0	No comment
  RAB27A	100.00	0	No comment
  RAB39B	100.00	0	No comment
  RAB3GAP1	100.00	0	No comment
  RAB3GAP2	100.00	0	No comment
  RAD21	100.00	0	No comment
  RAF1	100.00	0	No comment
  RAI1	93.59	0	No comment
  RANBP2	95.47	0	No comment
  RANGAP1	100.00	0	No comment
  RARS2	100.00	0	No comment
  RBBP8	99.97	0	No comment
  RBFOX1	98.87	0	No comment
  RBFOX3	98.41	0	No comment
  RELN	100.00	0	No comment
  RFT1	99.87	0	No comment
  RGMA	100.00	0	No comment
  RHOBTB2	100.00	0	No comment
  RNASEH2A	100.00	0	No comment
  RNASEH2B	94.58	0	No comment
  RNASEH2C	100.00	0	No comment
  RNASET2	100.00	0	No comment
  ROGDI	91.40	0	No comment
  RORB	100.00	0	No comment
  RPGRIP1L	96.40	0	No comment
  RPIA	99.96	0	No comment
  RRM2B	100.00	0	No comment
  RTTN	99.98	0	No comment
  RYR3	100.00	0	No comment
  SAMHD1	100.00	0	No comment
  SATB2	99.34	0	No comment
  SCARB2	99.99	0	No comment
  SCN10A	100.00	0	No comment
  SCN1A	100.00	0	No comment
  SCN1B	87.40	0	No comment
  SCN2A	100.00	0	No comment
  SCN2B	100.00	0	No comment
  SCN3A	100.00	0	No comment
  SCN3B	100.00	0	No comment
  SCN4A	100.00	0	No comment
  SCN4B	100.00	0	No comment
  SCN5A	100.00	0	No comment
  SCN8A	100.00	0	No comment
  SCN9A	99.99	0	No comment
  SCO2	93.85	0	No comment
  SDHA	95.31	0	No comment
  SDHAF1	90.31	0	No comment
  SEPSECS	99.57	0	No comment
  SERPINI1	100.00	0	No comment
  SETBP1	100.00	0	No comment
  SETD5	100.00	0	No comment
  SGSH	99.85	0	No comment
  SHANK3	90.31	0	No comment
  SHH	99.47	0	No comment
  SHOC2	100.00	0	No comment
  SHROOM4	99.98	0	No comment
  SIK1	100.00	0	No comment
  SIX3	99.61	0	No comment
  SLC12A5	99.86	0	No comment
  SLC12A6	100.00	0	No comment
  SLC13A5	100.00	0	No comment
  SLC16A1	100.00	0	No comment
  SLC16A2	99.97	0	No comment
  SLC17A5	100.00	0	No comment
  SLC19A3	99.90	0	No comment
  SLC1A2	100.00	0	No comment
  SLC1A3	100.00	0	No comment
  SLC20A2	100.00	0	No comment
  SLC25A1	98.83	0	No comment
  SLC25A12	100.00	0	No comment
  SLC25A15	100.00	0	No comment
  SLC25A19	100.00	0	No comment
  SLC25A20	100.00	0	No comment
  SLC25A22	100.00	0	No comment
  SLC2A1	100.00	0	No comment
  SLC2A2	99.95	0	No comment
  SLC35A1	100.00	0	No comment
  SLC35A2	100.00	0	No comment
  SLC35A3	100.00	0	No comment
  SLC35C1	100.00	0	No comment
  SLC3A2	90.78	0	No comment
  SLC46A1	99.98	0	No comment
  SLC4A10	99.99	0	No comment
  SLC6A1	100.00	0	No comment
  SLC6A19	99.98	0	No comment
  SLC6A5	100.00	0	No comment
  SLC6A8	99.41	0	No comment
  SLC6A9	100.00	0	No comment
  SLC9A6	99.66	0	No comment
  SLC9A9	100.00	0	No comment
  SMARCA1	98.12	0	No comment
  SMARCA2	98.99	0	No comment
  SMARCA4	100.00	0	No comment
  SMARCB1	100.00	0	No comment
  SMARCE1	98.46	0	No comment
  SMC1A	99.87	0	No comment
  SMC3	100.00	0	No comment
  SMPD1	100.00	0	No comment
  SNAP25	100.00	0	No comment
  SNAP29	100.00	0	No comment
  SNIP1	100.00	0	No comment
  SOS1	100.00	0	No comment
  SOX10	95.36	0	No comment
  SOX2	95.35	0	No comment
  SPRED1	100.00	0	No comment
  SPTAN1	100.00	0	No comment
  SRD5A3	98.61	0	No comment
  SRGAP3	100.00	0	No comment
  SRPX2	99.04	0	No comment
  ST3GAL3	100.00	0	No comment
  ST3GAL5	90.70	0	No comment
  STAMBP	100.00	0	No comment
  STIL	100.00	0	No comment
  STRADA	100.00	0	No comment
  STX1B	99.96	0	No comment
  STXBP1	100.00	0	No comment
  SUCLA2	99.86	0	No comment
  SUCLG1	93.27	0	No comment
  SUMF1	100.00	0	No comment
  SUOX	100.00	0	No comment
  SURF1	82.91	0	No comment
  SYN1	96.00	0	No comment
  SYNGAP1	99.76	0	No comment
  SYNJ1	99.72	0	No comment
  SYP	97.84	0	No comment
  SZT2	99.99	0	No comment
  TACO1	99.66	0	No comment
  TBC1D20	95.06	0	No comment
  TBC1D24	99.99	0	No comment
  TBCE	100.00	0	No comment
  TBL1XR1	100.00	0	No comment
  TBX1	83.55	0	No comment
  TCF4	100.00	0	No comment
  TCF7L2	100.00	0	No comment
  TCTN1	100.00	0	No comment
  TCTN2	100.00	0	No comment
  TCTN3	100.00	0	No comment
  TGIF1	100.00	0	No comment
  TK2	100.00	0	No comment
  TMEM138	100.00	0	No comment
  TMEM165	91.64	0	No comment
  TMEM216	99.87	0	No comment
  TMEM231	100.00	0	No comment
  TMEM237	99.85	0	No comment
  RXYLT1	100.00	0	No comment
  TMEM67	99.95	0	No comment
  TMEM70	100.00	0	No comment
  TNK2	99.86	0	No comment
  ACD	99.99	0	No comment
  TRAK1	100.00	0	No comment
  TREM2	100.00	0	No comment
  TREX1	100.00	0	No comment
  TRPM6	100.00	0	No comment
  TSC1	100.00	0	No comment
  TSC2	99.94	0	No comment
  TSEN2	100.00	0	No comment
  TSEN34	100.00	0	No comment
  TSEN54	91.60	0	No comment
  TTC21B	100.00	0	No comment
  TTN	100.00	0	No comment
  TTR	100.00	0	No comment
  TUBA1A	100.00	0	No comment
  TUBA8	99.98	0	No comment
  TUBB2A	100.00	0	No comment
  TUBB2B	100.00	0	No comment
  TUBB3	99.01	0	No comment
  TUBB4A	100.00	0	No comment
  TUBG1	100.00	0	No comment
  TUSC3	100.00	0	No comment
  TYROBP	100.00	0	No comment
  UBA5	100.00	0	No comment
  UBE2A	100.00	0	No comment
  UBE3A	100.00	0	No comment
  UBR5	100.00	0	No comment
  UPB1	100.00	0	No comment
  VANGL1	100.00	0	No comment
  VARS1	100.00	0	No comment
  VDAC1	95.12	0	No comment
  VLDLR	96.00	0	No comment
  VPS13A	100.00	0	No comment
  VPS13B	100.00	0	No comment
  VPS53	100.00	0	No comment
  VRK1	100.00	0	No comment
  WDR45	100.00	0	No comment
  WDR45B	99.94	0	No comment
  WDR62	100.00	0	No comment
  WFS1	100.00	0	No comment
  WWOX	100.00	0	No comment
  XK	99.44	0	No comment
  YWHAG	100.00	0	No comment
  ZBTB18	99.54	0	No comment
  ZC4H2	100.00	0	No comment
  ZDHHC9	100.00	0	No comment
  ZEB2	99.96	0	No comment
  ZIC2	95.66	0	No comment
  ZNF335	100.00	0	No comment
  ZNF423	100.00	0	No comment

• Myopathy (332 genes) - IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS1	100.00	1	NM_001605.3
  ABHD5	100.00	1	NM_016006.6
  ACAD9	100.00	1	NM_014049.5
  ACADM	100.00	1	NM_000016.6
  ACADVL	100.00	1	NM_000018.4
  ACTA1	100.00	1	NM_001100.4
  ACVR1	100.00	1	NM_001111067.4
  ADSS1	100.00	1	NM_199165.2
  AGK	100.00	1	NM_018238.4
  AGL	100.00	1	NM_000642.3
  AGRN	100.00	1	NM_198576.4
  AIFM1	100.00	1	NM_004208.4
  ALDOA	100.00	1	NM_184041.4
  ALG13	98.00	1	NM_001099922.3
  ALG14	100.00	1	NM_144988.4
  ALG2	100.00	1	NM_033087.4
  ALS2	100.00	1	NM_020919.4
  AMPD1	100.00	1	NM_000036.2
  ANG	100.00	1	NM_001145.4
  ANO5	100.00	1	NM_213599.3
  AR	100.00	1	NM_000044.6
  ASAH1	100.00	1	NM_177924.5
  ASCC1	100.00	1	NM_001198800.3
  ATP2A1	100.00	1	NM_004320.6
  ATP7A	100.00	1	NM_000052.7
  ATXN2	100.00	1	NM_001372574.1
  B3GALNT2	100.00	1	NM_152490.5
  B4GAT1	100.00	1	NM_006876.3
  BAG3	100.00	1	NM_004281.4
  BCS1L	100.00	1	NM_001079866.2
  BICD2	100.00	1	NM_001003800.2
  BIN1	100.00	1	NM_139343.3
  BSCL2	100.00	1	NM_001122955.3
  BVES	100.00	1	NM_001199563.2
  C1QBP	100.00	1	NM_001212.4
  C9ORF72	100.00	0	NM_018325.5
  CACNA1A	100.00	1	NM_023035.3
  CACNA1S	100.00	1	NM_000069.3
  CAPN3	100.00	1	NM_000070.3
  CASQ1	100.00	1	NM_001231.5
  CAV3	100.00	1	NM_033337.3
  CAVIN1	100.00	1	NM_012232.6
  CCDC78	100.00	1	NM_001031737.3
  CFL2	100.00	1	NM_138638.5
  CHAT	100.00	1	NM_020549.4
  CHCHD10	100.00	1	NM_213720.3
  CHKB	100.00	1	NM_005198.5
  CHMP2B	100.00	1	NM_014043.4
  CHRNA1	100.00	1	NM_000079.4
  CHRNB1	100.00	1	NM_000747.3
  CHRND	100.00	1	NM_000751.3
  CHRNE	100.00	1	NM_000080.4
  CHRNG	100.00	1	NM_005199.5
  CHST14	100.00	1	NM_130468.4
  CLCN1	100.00	1	NM_000083.3
  CLN3	100.00	1	NM_001042432.2
  CNBP	100.00	1	NM_003418.5
  CNTN1	100.00	1	NM_001843.4
  COL12A1	100.00	1	NM_004370.6
  COL13A1	100.00	1	NM_001130103.2
  COL6A1	100.00	1	NM_001848.3
  COL6A2	100.00	1	NM_001849.4
  COL6A3	100.00	1	NM_004369.4
  COLQ	100.00	1	NM_005677.4
  COQ9	100.00	1	NM_020312.4
  COX10	100.00	1	NM_001303.4
  COX15	100.00	1	NM_078470.6
  COX20	100.00	1	NM_198076.6
  COX6B1	100.00	1	NM_001863.5
  COX8A	100.00	1	NM_004074.3
  CPT2	100.00	1	NM_000098.3
  CRPPA	100.00	1	NM_001101426.4
  CRYAB	100.00	1	NM_001289808.2
  DAG1	100.00	1	NM_001177634.2
  DCTN1	100.00	1	NM_004082.4
  DES	100.00	1	NM_001927.4
  DGUOK	100.00	1	NM_080916.3
  DMD	100.00	1	NM_004006.2
  DMPK	100.00	1	NM_004409.5
  DNA2	100.00	1	NM_001080449.3
  DNAJB2	100.00	1	NM_006736.6
  DNAJB6	100.00	1	NM_058246.4
  DNM2	100.00	1	NM_001005361.3
  DNMT3B	100.00	1	NM_006892.4
  DOK7	100.00	1	NM_173660.5
  DPAGT1	100.00	1	NM_001382.4
  DPM1	99.00	1	NM_001317035.1
  DPM2	100.00	1	NM_003863.4
  DPM3	100.00	1	NM_153741.2
  DYNC1H1	100.00	1	NM_001376.5
  DYSF	100.00	1	NM_001130987.2
  ECEL1	100.00	1	NM_004826.4
  EMD	100.00	1	NM_000117.3
  ENO3	100.00	1	NM_053013.4
  ERBB3	100.00	1	NM_001982.4
  ERBB4	100.00	1	NM_005235.3
  ETFA	100.00	1	NM_000126.4
  ETFB	100.00	1	NM_001985.3
  ETFDH	100.00	1	NM_004453.4
  EXOSC3	100.00	1	NM_016042.4
  EXOSC8	100.00	1	NM_181503.3
  FASTKD2	100.00	1	NM_001136193.2
  FBN2	100.00	1	NM_001999.4
  FBXL4	100.00	1	NM_001278716.2
  FBXO38	100.00	1	NM_205836.3
  FDX2	100.00	1	NM_001031734.4
  FHL1	100.00	1	NM_001159699.2
  FIG4	100.00	1	NM_014845.6
  FKRP	100.00	1	NM_024301.5
  FKTN	100.00	1	NM_006731.2
  FLAD1	100.00	1	NM_025207.5
  FLNC	100.00	1	NM_001458.4
  FOXRED1	100.00	1	NM_017547.4
  FUS	100.00	1	NM_004960.4
  FXR1	100.00	1	NM_005087.4
  GAA	100.00	1	NM_000152.5
  GABRA3	100.00	1	NM_000808.4
  GARS1	100.00	1	NM_002047.4
  GBE1	100.00	1	NM_000158.4
  GFER	100.00	1	NM_005262.3
  GFPT1	100.00	1	NM_001244710.2
  GLE1	100.00	1	NM_001003722.2
  GLI3	100.00	1	NM_000168.6
  GMPPB	100.00	1	NM_021971.4
  GNE	100.00	1	NM_005476.7
  GOLGA2	100.00	1	XM_005251932.1
  GYG1	100.00	1	NM_004130.4
  GYS1	100.00	1	NM_002103.5
  HACD1	100.00	1	NM_014241.4
  HADHA	100.00	1	NM_000182.5
  HADHB	100.00	1	NM_000183.3
  HEXB	100.00	1	NM_000521.4
  HNRNPA1	100.00	1	NM_031157.4
  HNRNPA2B1	100.00	1	NM_031243.3
  HNRNPDL	100.00	1	NM_031372.3
  HRAS	100.00	1	NM_005343.4
  HSPB3	100.00	1	NM_006308.3
  HSPB8	100.00	1	NM_014365.3
  HSPG2	100.00	1	NM_005529.7
  IBA57	100.00	1	NM_001010867.4
  IGHMBP2	100.00	1	NM_002180.3
  INPP5K	100.00	1	NM_016532.4
  ISCU	100.00	1	NM_213595.3
  ITGA7	100.00	1	NM_002206.3
  KBTBD13	100.00	1	NM_001101362.2
  KCNA1	100.00	1	NM_000217.3
  KCNH2	100.00	1	NM_000238.4
  KCNJ18	100.00	1	NM_001194958.2
  KCNJ2	100.00	1	NM_000891.3
  KCNQ1	100.00	1	NM_000218.3
  KIF5A	100.00	1	NM_004984.4
  KLHL40	100.00	1	NM_152393.4
  KLHL41	100.00	1	NM_006063.3
  KLHL9	100.00	1	NM_018847.4
  KY	100.00	1	NM_178554.6
  LAMA2	100.00	1	NM_000426.3
  LAMA5	100.00	1	NM_005560.6
  LAMB2	100.00	1	NM_002292.4
  LAMP2	100.00	1	NM_002294.3
  LARGE1	100.00	1	NM_004737.6
  LDB3	98.00	1	NM_001171610.2
  LDHA	100.00	1	NM_005566.4
  LGI4	100.00	1	NM_139284.3
  LIMS2	100.00	1	NM_017980.4
  LMNA	100.00	1	NM_170707.4
  LMOD3	100.00	1	NM_198271.5
  LPIN1	100.00	1	NM_001349206.2
  LRP4	100.00	1	NM_002334.4
  LRPPRC	100.00	1	NM_133259.4
  MAP3K20	100.00	1	NM_016653.3
  MATR3	100.00	1	NM_018834.6
  MCCC1	100.00	1	NM_020166.5
  MCCC2	100.00	1	NM_022132.5
  MEGF10	100.00	1	NM_001256545.2
  MGME1	100.00	1	NM_052865.4
  MPV17	100.00	1	NM_002437.5
  MSTN	100.00	1	NM_005259.3
  MTM1	100.00	1	NM_000252.3
  MTMR14	100.00	1	NM_001077525.3
  MUSK	100.00	1	NM_005592.4
  MYBPC1	100.00	1	NM_002465.4
  MYBPC3	100.00	1	NM_000256.3
  MYH2	100.00	1	NM_017534.6
  MYH3	100.00	1	NM_002470.4
  MYH7	100.00	1	NM_000257.4
  MYH8	100.00	1	NM_002472.3
  MYL1	100.00	1	NM_079420.3
  MYMK	100.00	1	NM_001080483.3
  MYO18B	100.00	1	NM_032608.7
  MYO9A	100.00	1	NM_006901.4
  MYOT	100.00	1	NM_006790.3
  MYPN	100.00	1	NM_032578.3
  NDUFA1	100.00	1	NM_004541.4
  NDUFA10	100.00	1	NM_004544.4
  NDUFA11	100.00	1	NM_175614.5
  NDUFA12	100.00	1	NM_018838.5
  NDUFA2	100.00	1	NM_002488.5
  NDUFA3	100.00	1	NM_004542.4
  NDUFA9	100.00	1	NM_005002.5
  NDUFAF1	100.00	1	NM_016013.4
  NDUFAF2	100.00	1	NM_174889.5
  NDUFAF5	100.00	1	NM_024120.5
  NDUFAF6	100.00	1	NM_152416.4
  NDUFS1	100.00	1	NM_005006.7
  NDUFS2	100.00	1	NM_004550.4
  NDUFS3	100.00	1	NM_004551.3
  NDUFS4	100.00	1	NM_002495.4
  NDUFS7	100.00	1	NM_024407.5
  NDUFS8	100.00	1	NM_002496.4
  NDUFV1	100.00	1	NM_007103.4
  NDUFV2	100.00	1	NM_021074.5
  NEB	88.00	1	NM_001271208.2
  NEFH	100.00	1	NM_021076.4
  NUBPL	100.00	1	NM_025152.3
  OPTN	100.00	1	NM_001008212.2
  ORAI1	100.00	1	NM_032790.3
  PABPN1	100.00	1	NM_004643.3
  PET100	100.00	1	NM_001171155.2
  PFKM	100.00	1	NM_000289.6
  PFN1	100.00	1	NM_005022.4
  PGAM2	100.00	1	NM_000290.4
  PGK1	100.00	1	NM_000291.4
  PGM1	100.00	1	NM_002633.3
  PHKA1	100.00	1	NM_002637.4
  PHKB	100.00	1	NM_000293.3
  PHKG1	100.00	1	NM_001258459.1
  PIEZO2	100.00	1	NM_022068.3
  PIP5K1C	100.00	1	NM_012398.3
  PLEC	100.00	1	NM_201380.4
  PLEKHG5	100.00	1	NM_001265592.1
  PNPLA2	100.00	1	NM_020376.4
  PNPLA8	100.00	1	NM_001256007.3
  POGLUT1	100.00	1	NM_152305.3
  POLG	100.00	1	NM_001126131.2
  POLG2	100.00	1	NM_007215.4
  POMGNT1	100.00	1	NM_001243766.1
  POMGNT2	100.00	1	NM_032806.6
  POMK	100.00	1	NM_032237.5
  POMT1	100.00	1	NM_001077365.2
  POMT2	100.00	1	NM_013382.5
  PREPL	100.00	1	NM_001171613.2
  PRKAG2	100.00	1	NM_016203.4
  PRPH	100.00	1	NM_006262.4
  PUS1	100.00	1	NM_025215.6
  PYGM	100.00	1	NM_005609.4
  PYROXD1	100.00	1	NM_024854.5
  RAPSN	100.00	1	NM_005055.5
  RBCK1	100.00	1	NM_031229.4
  RBM7	100.00	1	NM_001286045.1
  REEP1	100.00	1	NM_001371279.1
  RNASEH1	100.00	1	NM_002936.5
  RRM2B	100.00	1	NM_015713.5
  RXYLT1	100.00	1	NM_014254.3
  RYR1	100.00	1	NM_000540.3
  SCN4A	100.00	1	NM_000334.4
  SCO1	100.00	1	NM_004589.4
  SCO2	100.00	1	NM_005138.3
  SELENON	90.00	1	NM_020451.3
  SETX	100.00	1	NM_015046.7
  SGCA	100.00	1	NM_000023.4
  SGCB	100.00	1	NM_000232.5
  SGCD	100.00	1	XM_017009724.1
  SGCG	100.00	1	NM_000231.2
  SIGMAR1	100.00	1	NM_005866.4
  SIL1	100.00	1	NM_022464.5
  SLC18A3	100.00	1	NM_003055.3
  SLC22A5	100.00	1	NM_003060.4
  SLC25A20	100.00	1	NM_000387.6
  SLC25A4	100.00	1	NM_001151.4
  SLC52A2	100.00	1	NM_001363118.2
  SLC52A3	100.00	1	NM_033409.4
  SLC5A7	100.00	1	NM_021815.5
  SMCHD1	100.00	1	NM_015295.3
  SMN1	6.00	0	NM_000344.3+(exon 1 à 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	Copy number variation	Comments
  AARS1	100.00	0	No comment
  ABCD1	97.56	0	No comment
  ABHD12	88.30	0	No comment
  ABHD5	99.85	0	No comment
  ACAD9	100.00	0	No comment
  ACADL	98.57	0	No comment
  ACADM	99.87	0	No comment
  ACADS	97.51	0	No comment
  ACADVL	98.04	0	No comment
  ACTA1	99.79	0	No comment
  ACVR1	100.00	0	No comment
  ADAR	100.00	0	No comment
  ADSS1	99.98	0	No comment
  AFG3L2	94.80	0	No comment
  AGK	100.00	0	No comment
  AGL	100.00	0	No comment
  AGRN	96.53	0	No comment
  AIFM1	99.98	0	No comment
  AIMP1	99.97	0	No comment
  ALDH18A1	100.00	0	No comment
  ALDH3A2	99.94	0	No comment
  ALDOA	100.00	0	No comment
  ALG13	99.53	0	No comment
  ALG14	100.00	0	No comment
  ALG2	99.83	0	No comment
  ALS2	100.00	0	No comment
  AMPD1	100.00	0	No comment
  AMPD2	99.90	0	No comment
  ANG	100.00	0	No comment
  ANO5	100.00	0	No comment
  ANXA11	99.99	0	No comment
  AP4B1	100.00	0	No comment
  AP4E1	99.99	0	No comment
  AP4M1	100.00	0	No comment
  AP4S1	100.00	0	No comment
  AP5Z1	99.25	0	No comment
  APTX	99.96	0	No comment
  AR	100.00	0	No comment
  ARG1	100.00	0	No comment
  ARHGEF10	99.98	0	No comment
  ARHGEF28	99.05	0	No comment
  ARL6IP1	100.00	0	No comment
  ARSI	99.82	0	No comment
  ASAH1	100.00	0	No comment
  ASCC1	91.30	0	No comment
  ATL1	99.89	0	No comment
  ATL3	99.93	0	No comment
  ATM	100.00	0	No comment
  ATP13A2	98.30	0	No comment
  ATP1A1	100.00	0	No comment
  ATP2A1	100.00	0	No comment
  ATP7A	100.00	0	No comment
  ATXN2	93.25	0	No comment
  AUH	99.24	0	No comment
  B3GALNT2	92.96	0	No comment
  B4GAT1	99.99	0	No comment
  B4GALNT1	99.99	0	No comment
  BAG3	100.00	0	No comment
  BCS1L	100.00	0	No comment
  BICD2	100.00	0	No comment
  BIN1	99.94	0	No comment
  BSCL2	100.00	0	No comment
  BVES	100.00	0	No comment
  TWNK	100.00	0	No comment
  MTRFR	100.00	0	No comment
  C19ORF12	100.00	0	No comment
  C1QBP	99.47	0	No comment
  C9ORF72	99.96	0	No comment
  CACNA1A	99.53	0	No comment
  CACNA1S	100.00	0	No comment
  CAPN1	99.97	0	No comment
  CAPN3	99.99	0	No comment
  CASQ1	100.00	0	No comment
  CAV3	100.00	0	No comment
  CCDC78	100.00	0	No comment
  CCT5	99.92	0	No comment
  CFL2	100.00	0	No comment
  CHAT	99.97	0	No comment
  CHCHD10	99.66	0	No comment
  CHKB	99.75	0	No comment
  CHMP2B	100.00	0	No comment
  CHRNA1	99.99	0	No comment
  CHRNB1	99.95	0	No comment
  CHRND	100.00	0	No comment
  CHRNE	100.00	0	No comment
  CHRNG	99.87	0	No comment
  CHST14	99.50	0	No comment
  CLCN1	100.00	0	No comment
  CLN3	100.00	0	No comment
  CLN8	100.00	0	No comment
  CLTCL1	99.04	0	No comment
  CNBP	100.00	0	No comment
  CNTN1	100.00	0	No comment
  CNTNAP1	100.00	0	No comment
  COL12A1	100.00	0	No comment
  COL13A1	99.52	0	No comment
  COL6A1	99.90	0	No comment
  COL6A2	99.98	0	No comment
  COL6A3	100.00	0	No comment
  COLQ	100.00	0	No comment
  COQ9	100.00	0	No comment
  COX10	100.00	0	No comment
  COX15	99.99	0	No comment
  COX20	100.00	0	No comment
  COX6A1	100.00	0	No comment
  COX6B1	100.00	0	No comment
  COX8A	100.00	0	No comment
  CPT1C	100.00	0	No comment
  CPT2	98.55	0	No comment
  CRYAB	100.00	0	No comment
  CSF1R	99.99	0	No comment
  CTDP1	100.00	0	No comment
  CYP27A1	99.38	0	No comment
  CYP2U1	93.20	0	No comment
  CYP7B1	95.41	0	No comment
  DAG1	100.00	0	No comment
  DARS2	100.00	0	No comment
  DCAF8	100.00	0	No comment
  DCTN1	100.00	0	No comment
  DDHD1	99.58	0	No comment
  DDHD2	100.00	0	No comment
  DES	100.00	0	No comment
  DGAT2	100.00	0	No comment
  DGUOK	100.00	0	No comment
  DHTKD1	99.54	0	No comment
  DMD	99.96	0	No comment
  DMPK	99.91	0	No comment
  DMXL2	100.00	0	No comment
  DNAJB2	100.00	0	No comment
  DNAJB6	91.94	0	No comment
  DNM2	99.84	0	No comment
  DNMT1	99.54	0	No comment
  DOK7	97.44	0	No comment
  DOLK	100.00	0	No comment
  DPAGT1	100.00	0	No comment
  DPM1	100.00	0	No comment
  DPM2	100.00	0	No comment
  DPM3	100.00	0	No comment
  DST	100.00	0	No comment
  DYNC1H1	99.92	0	No comment
  DYSF	99.72	0	No comment
  ECEL1	99.80	0	No comment
  EGR2	100.00	0	No comment
  ELOVL4	100.00	0	No comment
  EMD	98.97	0	No comment
  ENO3	100.00	0	No comment
  ENTPD1	100.00	0	No comment
  ERBB3	100.00	0	No comment
  ERBB4	100.00	0	No comment
  ERCC2	98.91	0	No comment
  ERLIN1	100.00	0	No comment
  ERLIN2	100.00	0	No comment
  ETFA	100.00	0	No comment
  ETFB	100.00	0	No comment
  ETFDH	100.00	0	No comment
  EXOSC3	100.00	0	No comment
  EXOSC8	100.00	0	No comment
  FA2H	95.71	0	No comment
  FAM111B	100.00	0	No comment
  HYCC1	100.00	0	No comment
  RETREG1	93.72	0	No comment
  FARS2	100.00	0	No comment
  FASTKD2	100.00	0	No comment
  FBLN5	100.00	0	No comment
  FBN2	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FBXO38	100.00	0	No comment
  FBXO7	99.78	0	No comment
  FDX2	100.00	0	No comment
  FGD4	99.98	0	No comment
  CFH	100.00	0	No comment
  FIG4	100.00	0	No comment
  FKRP	100.00	0	No comment
  FKTN	100.00	0	No comment
  FLAD1	100.00	0	No comment
  FLNC	100.00	0	No comment
  FLRT1	100.00	0	No comment
  FLVCR1	100.00	0	No comment
  FOXRED1	100.00	0	No comment
  FUS	100.00	0	No comment
  FXN	94.27	0	No comment
  GAA	100.00	0	No comment
  GABRA3	99.59	0	No comment
  GAD1	100.00	0	No comment
  GALC	98.98	0	No comment
  GAN	98.52	0	No comment
  GARS1	97.89	0	No comment
  GART	99.99	0	No comment
  GBA1	100.00	0	No comment
  GBA2	100.00	0	No comment
  GBE1	100.00	0	No comment
  GCH1	99.71	0	No comment
  GDAP1	100.00	0	No comment
  GFAP	100.00	0	No comment
  GFER	99.09	0	No comment
  GFPT1	99.94	0	No comment
  GGPS1	100.00	0	No comment
  GJB1	100.00	0	No comment
  GJB3	100.00	0	No comment
  GJC2	96.72	0	No comment
  GLA	100.00	0	No comment
  GLB1	100.00	0	No comment
  GLE1	100.00	0	No comment
  GLI3	100.00	0	No comment
  GLTP	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNB4	100.00	0	No comment
  GNE	100.00	0	No comment
  GOLGA2	95.41	0	No comment
  GOSR2	100.00	0	No comment
  GSN	97.80	0	No comment
  GYG1	94.40	0	No comment
  GYS1	100.00	0	No comment
  HADHA	100.00	0	No comment
  HADHB	100.00	0	No comment
  HARS1	99.73	0	No comment
  HEPACAM	99.85	0	No comment
  HEXA	100.00	0	No comment
  HEXB	99.19	0	No comment
  HINT1	100.00	0	No comment
  HK1	100.00	0	No comment
  HNRNPA1	97.19	0	No comment
  HNRNPA2B1	100.00	0	No comment
  HNRNPDL	99.98	0	No comment
  HOXD10	100.00	0	No comment
  HRAS	100.00	0	No comment
  HSD17B4	100.00	0	No comment
  HSPB1	100.00	0	No comment
  HSPB3	100.00	0	No comment
  HSPB8	100.00	0	No comment
  HSPD1	95.18	0	No comment
  HSPG2	99.19	0	No comment
  IBA57	92.01	0	No comment
  IFIH1	100.00	0	No comment
  IFRD1	98.86	0	No comment
  IGHMBP2	99.38	0	No comment
  ELP1	100.00	0	No comment
  INF2	99.92	0	No comment
  INPP5K	99.31	0	No comment
  ISCU	98.41	0	No comment
  CRPPA	95.50	0	No comment
  ITGA7	100.00	0	No comment
  KARS1	100.00	0	No comment
  KBTBD13	99.16	0	No comment
  KCNA1	100.00	0	No comment
  KCNE1	100.00	0	No comment
  KCNE2	100.00	0	No comment
  KCNE3	100.00	0	No comment
  KCNH2	98.15	0	No comment
  KCNJ12	100.00	0	No comment
  KCNJ2	100.00	0	No comment
  KCNQ1	100.00	0	No comment
  WASHC5	100.00	0	No comment
  KIF1A	98.74	0	No comment
  KIF1B	99.84	0	No comment
  KIF1C	100.00	0	No comment
  KIF21A	98.54	0	No comment
  KIF5A	100.00	0	No comment
  KLC4	99.99	0	No comment
  KLHL40	100.00	0	No comment
  KLHL41	100.00	0	No comment
  KLHL9	100.00	0	No comment
  KY	100.00	0	No comment
  L1CAM	99.98	0	No comment
  LAMA2	100.00	0	No comment
  LAMA5	98.39	0	No comment
  LAMB2	100.00	0	No comment
  LAMP2	99.60	0	No comment
  LARGE1	100.00	0	No comment
  LDB3	100.00	0	No comment
  LDHA	99.42	0	No comment
  LGI4	100.00	0	No comment
  LIMS2	91.30	0	No comment
  LITAF	100.00	0	No comment
  LMNA	99.28	0	No comment
  LMOD3	100.00	0	No comment
  LPIN1	99.97	0	No comment
  CORIN	99.01	0	No comment
  LRPPRC	98.80	0	No comment
  LRSAM1	99.33	0	No comment
  MARS1	100.00	0	No comment
  MATR3	100.00	0	No comment
  MB	100.00	0	No comment
  MED25	100.00	0	No comment
  MEGF10	99.99	0	No comment
  MFN2	100.00	0	No comment
  MLC1	98.57	0	No comment
  MAP3K20	100.00	0	No comment
  MARS2	100.00	0	No comment
  MME	100.00	0	No comment
  MORC2	100.00	0	No comment
  MPV17	100.00	0	No comment
  MPZ	99.80	0	No comment
  MSTN	100.00	0	No comment
  MTM1	99.91	0	No comment
  MTMR14	99.92	0	No comment
  MTMR2	99.55	0	No comment
  MTPAP	99.98	0	No comment
  MUSK	100.00	0	No comment
  MYBPC1	100.00	0	No comment
  MYBPC3	100.00	0	No comment
  MYH7B	99.85	0	No comment
  MYH2	100.00	0	No comment
  MYH3	100.00	0	No comment
  MYH4	100.00	0	No comment
  MYH7	100.00	0	No comment
  MYH8	100.00	0	No comment
  MYL1	100.00	0	No comment
  MYO18B	99.80	0	No comment
  MYO9A	99.74	0	No comment
  MYOT	100.00	0	No comment
  MYPN	99.97	0	No comment
  NAGLU	96.69	0	No comment
  NDRG1	100.00	0	No comment
  NDUFA1	100.00	0	No comment
  NDUFA10	96.45	0	No comment
  NDUFA11	100.00	0	No comment
  NDUFA12	100.00	0	No comment
  NDUFA2	100.00	0	No comment
  NDUFA3	100.00	0	No comment
  NDUFA9	100.00	0	No comment
  NDUFAF1	100.00	0	No comment
  NDUFAF2	100.00	0	No comment
  NDUFAF5	99.96	0	No comment
  NDUFAF6	95.61	0	No comment
  NDUFS1	100.00	0	No comment
  NDUFS2	100.00	0	No comment
  NDUFS3	100.00	0	No comment
  NDUFS4	99.96	0	No comment
  NDUFS7	93.34	0	No comment
  NDUFS8	100.00	0	No comment
  NDUFV1	99.62	0	No comment
  NDUFV2	100.00	0	No comment
  NEB	100.00	0	No comment
  NEFH	81.41	0	No comment
  NEFL	100.00	0	No comment
  NEK1	99.98	0	No comment
  NGF	100.00	0	No comment
  NIPA1	92.99	0	No comment
  NT5C2	100.00	0	No comment
  NTRK1	98.36	0	No comment
  NUBPL	99.92	0	No comment
  MED12	99.98	0	No comment
  OPA3	100.00	0	No comment
  OPTN	100.00	0	No comment
  ORAI1	92.14	0	No comment
  P4HA1	100.00	0	No comment
  PABPN1	100.00	0	No comment
  PANK2	100.00	0	No comment
  PDHA1	92.64	0	No comment
  PDK3	97.80	0	No comment
  PDYN	100.00	0	No comment
  PET100	100.00	0	No comment
  PEX1	100.00	0	No comment
  PEX7	95.60	0	No comment
  PFKM	100.00	0	No comment
  PFN1	100.00	0	No comment
  PGAM2	99.97	0	No comment
  PGAP1	100.00	0	No comment
  PGK1	99.88	0	No comment
  PGM1	100.00	0	No comment
  PHKA1	99.99	0	No comment
  PHKB	99.97	0	No comment
  PHOX2A	96.24	0	No comment
  PHYH	99.81	0	No comment
  PIEZO2	100.00	0	No comment
  PIP5K1C	94.98	0	No comment
  PLA2G6	100.00	0	No comment
  PLEC	99.26	0	No comment
  PLEKHG5	100.00	0	No comment
  PLP1	100.00	0	No comment
  PMP2	100.00	0	No comment
  PMP22	100.00	0	No comment
  PNKP	99.84	0	No comment
  PNPLA2	98.21	0	No comment
  PNPLA6	99.95	0	No comment
  PNPLA8	100.00	0	No comment
  POGLUT1	100.00	0	No comment
  POLG	100.00	0	No comment
  POLG2	100.00	0	No comment
  POLR3A	100.00	0	No comment
  POLR3B	100.00	0	No comment
  POMGNT1	100.00	0	No comment
  POMGNT2	100.00	0	No comment
  POMK	100.00	0	No comment
  POMT1	100.00	0	No comment
  POMT2	99.53	0	No comment
  PPP2R2B	100.00	0	No comment
  PRDM12	81.28	0	No comment
  PREPL	99.98	0	No comment
  PRKAG2	95.75	0	No comment
  PRNP	99.92	0	No comment
  PRPH	99.62	0	No comment
  PRPS1	99.91	0	No comment
  PRUNE1	100.00	0	No comment
  PRX	99.89	0	No comment
  PSEN1	100.00	0	No comment
  HACD1	94.60	0	No comment
  CAVIN1	100.00	0	No comment
  PTRH2	99.91	0	No comment
  PUS1	100.00	0	No comment
  PYGM	100.00	0	No comment
  PYROXD1	99.99	0	No comment
  RAB3GAP2	100.00	0	No comment
  RAB7A	100.00	0	No comment
  RAPSN	100.00	0	No comment
  RBCK1	99.76	0	No comment
  RBM7	100.00	0	No comment
  REEP1	100.00	0	No comment
  REEP2	97.04	0	No comment
  RNASEH2B	94.58	0	No comment
  RNASET2	100.00	0	No comment
  RRM2B	100.00	0	No comment
  RTN2	99.44	0	No comment
  RYR1	99.39	0	No comment
  RYR3	100.00	0	No comment
  SACS	99.95	0	No comment
  SBF1	98.38	0	No comment
  SBF2	99.92	0	No comment
  SCN10A	100.00	0	No comment
  SCN11A	99.98	0	No comment
  SCN4A	100.00	0	No comment
  SCN5A	100.00	0	No comment
  SCN9A	99.99	0	No comment
  SCO1	100.00	0	No comment
  SCO2	93.85	0	No comment
  SELENON	84.10	0	No comment
  SEPTIN9	99.38	0	No comment
  SETX	100.00	0	No comment
  SGCA	100.00	0	No comment
  SGCB	91.50	0	No comment
  SGCD	100.00	0	No comment
  SGCE	93.30	0	No comment
  SGCG	100.00	0	No comment
  SGPL1	100.00	0	No comment
  SH3TC2	100.00	0	No comment
  SIGMAR1	92.51	0	No comment
  SIL1	99.95	0	No comment
  SLC12A6	100.00	0	No comment
  SLC16A1	100.00	0	No comment
  SLC16A2	99.97	0	No comment
  SLC18A3	100.00	0	No comment
  SLC22A5	100.00	0	No comment
  SLC25A15	100.00	0	No comment
  SLC25A20	100.00	0	No comment
  SLC25A4	99.81	0	No comment
  SLC25A42	99.60	0	No comment
  SLC25A46	100.00	0	No comment
  SLC2A1	100.00	0	No comment
  SLC33A1	100.00	0	No comment
  SLC52A2	100.00	0	No comment
  SLC52A3	99.86	0	No comment
  SLC5A7	100.00	0	No comment
  SMCHD1	100.00	0	No comment
  SMN1	100.00	0	No comment
  SNAP25	100.00	0	No comment
  SOD1	100.00	0	No comment
  SOX10	95.36	0	No comment
  SPAST	99.83	0	No comment
  SPEG	98.78	0	No comment
  SPG11	100.00	0	No comment
  SPART	100.00	0	No comment
  SPG21	100.00	0	No comment
  SPG7	95.78	0	No comment
  SPR	99.98	0	No comment
  SPTBN4	98.07	0	No comment
  SPTLC1	99.27	0	No comment
  SPTLC2	96.43	0	No comment
  SQSTM1	94.05	0	No comment
  SRPK3	98.13	0	No comment
  STAC3	100.00	0	No comment
  STIM1	100.00	0	No comment
  SUCLA2	99.86	0	No comment
  SUCLG1	93.27	0	No comment
  SUN1	100.00	0	No comment
  SURF1	100.00	0	No comment
  SYNE1	100.00	0	No comment
  SYNE2	100.00	0	No comment
  SYT2	99.96	0	No comment
  TACO1	99.66	0	No comment
  TANGO2	99.94	0	No comment
  TARDBP	100.00	0	No comment
  TARS2	100.00	0	No comment
  WWTR1	97.30	0	No comment
  TBCE	100.00	0	No comment
  TBK1	99.99	0	No comment
  TCAP	100.00	0	No comment
  TDP1	100.00	0	No comment
  TECPR2	99.92	0	No comment
  TFG	99.98	0	No comment
  TGM6	100.00	0	No comment
  TH	98.79	0	No comment
  TIA1	100.00	0	No comment
  TK2	100.00	0	No comment
  TMEM43	100.00	0	No comment
  RXYLT1	100.00	0	No comment
  TMEM65	90.50	0	No comment
  MYMK	100.00	0	No comment
  TNNI2	100.00	0	No comment
  TNNT1	94.05	0	No comment
  TNNT3	100.00	0	No comment
  TNPO3	100.00	0	No comment
  TOR1A	99.70	0	No comment
  TOR1AIP1	100.00	0	No comment
  TPI1	99.90	0	No comment
  TPM2	100.00	0	No comment
  TPM3	98.74	0	No comment
  TRAPPC11	99.97	0	No comment
  TRIM2	100.00	0	No comment
  TRIM32	100.00	0	No comment
  TRIM54	96.63	0	No comment
  TRIM63	100.00	0	No comment
  TRIP4	100.00	0	No comment
  TRMT5	100.00	0	No comment
  TRPV4	100.00	0	No comment
  TSFM	86.80	0	No comment
  TTBK2	100.00	0	No comment
  TTN	100.00	0	No comment
  TTR	100.00	0	No comment
  TUBA4A	100.00	0	No comment
  TUBB3	99.01	0	No comment
  TUBB4A	100.00	0	No comment
  TYMP	100.00	0	No comment
  UBA1	100.00	0	No comment
  UBQLN2	99.30	0	No comment
  UNC13A	99.74	0	No comment
  USP8	100.00	0	No comment
  VAMP1	100.00	0	No comment
  VAPB	99.77	0	No comment
  VARS2	100.00	0	No comment
  VCP	97.10	0	No comment
  VMA21	77.99	0	No comment
  VPS33B	100.00	0	No comment
  VPS37A	99.28	0	No comment
  VRK1	100.00	0	No comment
  WARS1	100.00	0	No comment
  WDR45	100.00	0	No comment
  WDR48	100.00	0	No comment
  WNK1	100.00	0	No comment
  XK	99.44	0	No comment
  YARS1	100.00	0	No comment
  YARS2	100.00	0	No comment
  ZC4H2	100.00	0	No comment
  ZFHX2	100.00	0	No comment
  ZFR	100.00	0	No comment
  ZFYVE26	100.00	0	No comment
  ZFYVE27	100.00	0	No comment

• mitochondrial disease, nuclear based (343 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS2	100.00	0	No comment
  ABAT	100.00	0	No comment
  ABCB7	100.00	0	No comment
  ACAD9	100.00	0	No comment
  ACO2	100.00	0	No comment
  ADPRS	99.18	0	No comment
  AFG3L2	95.05	0	No comment
  AGK	100.00	0	No comment
  AIFM1	100.00	0	No comment
  ALDH1B1	100.00	0	No comment
  ANO10	100.00	0	No comment
  APTX	100.00	0	No comment
  ATAD3A	98.67	0	No comment
  ATAD3B	98.52	0	No comment
  ATAD3C	97.28	0	No comment
  ATL1	100.00	0	No comment
  ATL3	100.00	0	No comment
  ATP5F1A	100.00	0	No comment
  ATP5F1B	100.00	0	No comment
  ATP5F1C	100.00	0	No comment
  ATP5F1D	86.59	0	No comment
  ATP5F1E	100.00	0	No comment
  ATP5IF1	100.00	0	No comment
  ATP5MC1	100.00	0	No comment
  ATP5MC2	100.00	0	No comment
  ATP5MC3	100.00	0	No comment
  ATP5MK	100.00	0	No comment
  ATP5ME	100.00	0	No comment
  ATP5MF	100.00	0	No comment
  ATP5MG	100.00	0	No comment
  ATP5MGL	100.00	0	No comment
  ATP5PB	99.84	0	No comment
  ATP5PD	99.81	0	No comment
  ATP5PF	100.00	0	No comment
  ATP5PO	100.00	0	No comment
  ATPAF1	81.57	0	No comment
  ATPAF2	100.00	0	No comment
  BCS1L	100.00	0	No comment
  BOLA1	100.00	0	No comment
  BOLA2	100.00	0	No comment
  BOLA3	84.43	0	No comment
  MTRFR	100.00	0	No comment
  C19ORF12	100.00	0	No comment
  C1QBP	97.23	0	No comment
  CARS2	95.42	0	No comment
  CEP89	100.00	0	No comment
  CHCHD10	97.45	0	No comment
  CHKB	99.69	0	No comment
  CLPB	100.00	0	No comment
  CLPP	100.00	0	No comment
  COA1	100.00	0	No comment
  COA3	100.00	0	No comment
  COA5	100.00	0	No comment
  COA6	100.00	0	No comment
  COA7	100.00	0	No comment
  COA8	100.00	0	No comment
  COASY	100.00	0	No comment
  COQ2	97.15	0	No comment
  COQ4	100.00	0	No comment
  COQ6	100.00	0	No comment
  COQ7	100.00	0	No comment
  COQ8A	100.00	0	No comment
  COQ8B	90.08	0	No comment
  COQ9	99.99	0	No comment
  COX10	100.00	0	No comment
  COX14	100.00	0	No comment
  COX15	100.00	0	No comment
  COX20	98.72	0	No comment
  COX4I1	100.00	0	No comment
  COX4I2	100.00	0	No comment
  COX5A	97.33	0	No comment
  COX5B	100.00	0	No comment
  COX6A1	100.00	0	No comment
  COX6A2	100.00	0	No comment
  COX6B1	100.00	0	No comment
  COX6B2	100.00	0	No comment
  COX6C	100.00	0	No comment
  COX7A1	100.00	0	No comment
  COX7A2	100.00	0	No comment
  COX7A2L	100.00	0	No comment
  COX7B	99.88	0	No comment
  COX7B2	100.00	0	No comment
  COX7C	100.00	0	No comment
  COX8A	100.00	0	No comment
  COX8C	98.71	0	No comment
  CYC1	88.46	0	No comment
  CYCS	100.00	0	No comment
  DARS2	100.00	0	No comment
  DDHD1	98.94	0	No comment
  DES	100.00	0	No comment
  DGUOK	100.00	0	No comment
  DHTKD1	99.98	0	No comment
  DLAT	100.00	0	No comment
  DLD	100.00	0	No comment
  DLST	100.00	0	No comment
  DMAC2L	100.00	0	No comment
  DNA2	100.00	0	No comment
  DNAJC19	100.00	0	No comment
  DNAJC3	100.00	0	No comment
  DNM1L	100.00	0	No comment
  EARS2	100.00	0	No comment
  ECHS1	99.99	0	No comment
  ECSIT	100.00	0	No comment
  ELAC2	99.99	0	No comment
  ETHE1	99.88	0	No comment
  FARS2	100.00	0	No comment
  FASTKD2	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FDX2	100.00	0	No comment
  FDXR	100.00	0	No comment
  FH	100.00	0	No comment
  FOXRED1	100.00	0	No comment
  FXN	89.89	0	No comment
  GARS1	99.53	0	No comment
  GATB	100.00	0	No comment
  GATC	100.00	0	No comment
  GATM	99.26	0	No comment
  GFER	97.55	0	No comment
  GFM1	100.00	0	No comment
  GFM2	100.00	0	No comment
  GLRX5	84.06	0	No comment
  GLUD1	99.45	0	No comment
  GTPBP3	100.00	0	No comment
  HARS2	100.00	0	No comment
  HCCS	100.00	0	No comment
  HIBCH	100.00	0	No comment
  HLCS	100.00	0	No comment
  HSD17B10	100.00	0	No comment
  HSPA9	100.00	0	No comment
  HSPD1	99.53	0	No comment
  HTRA2	100.00	0	No comment
  IARS2	100.00	0	No comment
  IBA57	87.89	0	No comment
  ISCA1	99.77	0	No comment
  ISCA2	100.00	0	No comment
  ISCU	99.39	0	No comment
  KARS1	100.00	0	No comment
  LACTB	91.87	0	No comment
  LARS2	100.00	0	No comment
  LIAS	100.00	0	No comment
  LIPT1	100.00	0	No comment
  LIPT2	94.78	0	No comment
  LONP1	99.83	0	No comment
  LRPPRC	99.14	0	No comment
  LYRM4	68.80	0	No comment
  LYRM7	100.00	0	No comment
  MARS2	100.00	0	No comment
  MCUR1	79.55	0	No comment
  MDH2	98.91	0	No comment
  MFF	100.00	0	No comment
  MFN2	100.00	0	No comment
  MGME1	100.00	0	No comment
  MICOS13	100.00	0	No comment
  MICU1	100.00	0	No comment
  MIEF2	100.00	0	No comment
  MMUT	100.00	0	No comment
  MPC1	100.00	0	No comment
  MPV17	100.00	0	No comment
  MRM2	99.91	0	No comment
  MRM3	100.00	0	No comment
  MRPL12	92.58	0	No comment
  MRPL3	100.00	0	No comment
  MRPL44	100.00	0	No comment
  MRPL57	100.00	0	No comment
  MRPS14	100.00	0	No comment
  MRPS16	100.00	0	No comment
  MRPS2	98.34	0	No comment
  MRPS22	100.00	0	No comment
  MRPS34	97.33	0	No comment
  MRPS7	100.00	0	No comment
  MRRF	100.00	0	No comment
  MSTO1	100.00	0	No comment
  MTFMT	99.11	0	No comment
  MTO1	95.75	0	No comment
  MTPAP	100.00	0	No comment
  NADK2	90.73	0	No comment
  NARS2	100.00	0	No comment
  NAXE	99.78	0	No comment
  NDUFA1	100.00	0	No comment
  NDUFA10	95.87	0	No comment
  NDUFA11	98.06	0	No comment
  NDUFA12	100.00	0	No comment
  NDUFA13	100.00	0	No comment
  NDUFA2	100.00	0	No comment
  NDUFA3	100.00	0	No comment
  NDUFA4	99.68	0	No comment
  NDUFA5	87.27	0	No comment
  NDUFA6	100.00	0	No comment
  NDUFA7	100.00	0	No comment
  NDUFA8	100.00	0	No comment
  NDUFA9	100.00	0	No comment
  NDUFAB1	100.00	0	No comment
  NDUFAF1	100.00	0	No comment
  NDUFAF2	100.00	0	No comment
  NDUFAF3	100.00	0	No comment
  NDUFAF4	100.00	0	No comment
  NDUFAF5	100.00	0	No comment
  NDUFAF6	93.73	0	No comment
  NDUFAF7	100.00	0	No comment
  NDUFB1	100.00	0	No comment
  NDUFB10	100.00	0	No comment
  NDUFB11	99.52	0	No comment
  NDUFB2	100.00	0	No comment
  NDUFB3	100.00	0	No comment
  NDUFB4	99.85	0	No comment
  NDUFB5	100.00	0	No comment
  NDUFB6	100.00	0	No comment
  NDUFB7	100.00	0	No comment
  NDUFB8	100.00	0	No comment
  NDUFB9	100.00	0	No comment
  NDUFC1	100.00	0	No comment
  NDUFC2	100.00	0	No comment
  NDUFS1	100.00	0	No comment
  NDUFS2	100.00	0	No comment
  NDUFS3	100.00	0	No comment
  NDUFS4	100.00	0	No comment
  NDUFS5	99.18	0	No comment
  NDUFS6	100.00	0	No comment
  NDUFS7	99.49	0	No comment
  NDUFS8	100.00	0	No comment
  NDUFV1	100.00	0	No comment
  NDUFV2	100.00	0	No comment
  NDUFV3	99.46	0	No comment
  NFS1	93.58	0	No comment
  NFU1	99.75	0	No comment
  NSUN3	100.00	0	No comment
  NUBPL	100.00	0	No comment
  OGDH	100.00	0	No comment
  MED12	100.00	0	No comment
  OPA3	100.00	0	No comment
  OXA1L	100.00	0	No comment
  PANK2	98.60	0	No comment
  PARS2	100.00	0	No comment
  PODXL	100.00	0	No comment
  PDHA1	98.17	0	No comment
  PDHB	100.00	0	No comment
  PDHX	99.87	0	No comment
  PDK1	99.19	0	No comment
  PDK2	100.00	0	No comment
  PDK3	99.76	0	No comment
  PDK4	100.00	0	No comment
  PDP1	100.00	0	No comment
  PDSS1	86.24	0	No comment
  PDSS2	100.00	0	No comment
  PET100	100.00	0	No comment
  PET117	100.00	0	No comment
  PIGA	100.00	0	No comment
  PINK1	92.83	0	No comment
  PISD	100.00	0	No comment
  PITRM1	100.00	0	No comment
  PMPCA	100.00	0	No comment
  PNPT1	100.00	0	No comment
  POLG	100.00	0	No comment
  POLG2	100.00	0	No comment
  POLR3A	100.00	0	No comment
  PPA2	99.97	0	No comment
  PTRH2	100.00	0	No comment
  PUS1	99.08	0	No comment
  PYCR1	100.00	0	No comment
  PYCR2	100.00	0	No comment
  QRSL1	100.00	0	No comment
  RARS2	100.00	0	No comment
  REEP1	97.37	0	No comment
  RMND1	100.00	0	No comment
  RNASEH1	100.00	0	No comment
  RRM2B	100.00	0	No comment
  SARS2	100.00	0	No comment
  SCO1	100.00	0	No comment
  SCO2	100.00	0	No comment
  SDHA	98.02	0	No comment
  SDHAF1	96.03	0	No comment
  SDHB	100.00	0	No comment
  SDHD	80.22	0	No comment
  SERAC1	100.00	0	No comment
  SFXN4	100.00	0	No comment
  SLC19A2	99.50	0	No comment
  SLC19A3	100.00	0	No comment
  SLC25A1	93.77	0	No comment
  SLC25A12	100.00	0	No comment
  SLC25A13	99.94	0	No comment
  SLC25A19	100.00	0	No comment
  SLC25A22	100.00	0	No comment
  SLC25A24	99.82	0	No comment
  SLC25A3	100.00	0	No comment
  SLC25A32	100.00	0	No comment
  SLC25A4	99.09	0	No comment
  SLC25A46	100.00	0	No comment
  SLC25A5	98.36	0	No comment
  SLC25A6	100.00	0	No comment
  SLC39A8	97.00	0	No comment
  SPART	100.00	0	No comment
  SPAST	100.00	0	No comment
  AFG2A	100.00	0	No comment
  SPG7	96.56	0	No comment
  SQSTM1	93.68	0	No comment
  STXBP1	100.00	0	No comment
  SUCLA2	100.00	0	No comment
  SUCLG1	95.74	0	No comment
  SUCLG2	99.95	0	No comment
  SURF1	87.74	0	No comment
  TACO1	99.90	0	No comment
  TANGO2	100.00	0	No comment
  TARS2	100.00	0	No comment
  WWTR1	99.81	0	No comment
  THG1L	100.00	0	No comment
  TIMM44	99.93	0	No comment
  TIMM50	100.00	0	No comment
  TIMM8A	100.00	0	No comment
  TIMMDC1	100.00	0	No comment
  TK2	95.90	0	No comment
  TMEM126A	100.00	0	No comment
  TMEM126B	100.00	0	No comment
  TMEM70	100.00	0	No comment
  TPK1	100.00	0	No comment
  TRIAP1	100.00	0	No comment
  TRIT1	100.00	0	No comment
  TRMT10C	100.00	0	No comment
  TRMT5	100.00	0	No comment
  TRMU	100.00	0	No comment
  TRNT1	100.00	0	No comment
  TSFM	93.22	0	No comment
  TTC19	85.12	0	No comment
  TUFM	100.00	0	No comment
  TWNK	100.00	0	No comment
  TXN2	100.00	0	No comment
  TYMP	91.72	0	No comment
  UBA52	100.00	0	No comment
  UQCC1	100.00	0	No comment
  UQCC2	100.00	0	No comment
  UQCC3	100.00	0	No comment
  UQCR10	100.00	0	No comment
  UQCR11	100.00	0	No comment
  UQCRB	100.00	0	No comment
  UQCRC1	99.82	0	No comment
  UQCRC2	100.00	0	No comment
  UQCRFS1	98.87	0	No comment
  UQCRH	100.00	0	No comment
  UQCRQ	100.00	0	No comment
  VARS2	100.00	0	No comment
  VPS13D	100.00	0	No comment
  WARS2	100.00	0	No comment
  YARS2	100.00	0	No comment
  YME1L1	100.00	0	No comment