ABCB1

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Name:	ATP binding cassette subfamily B member 1
Symbol:	ABCB1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	ABC20 CD243 GP170 Multidrug resistance protein 1 P-gp multidrug resistance protein 1 p-170
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	04 Feb 2020 - 15:15
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• 41 pharmacogenes analysis
• ABCB1 genotyping (c.3435C>T, c.1199G>A ) - Transport protein - Pharmacogenetics
• Early onset epileptic encephalopathy (gene panel - 845 genes)
• Epilepsy gene panel

Related Diseases

• NON RARE IN EUROPE: Ulcerative colitis

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

• Epilepsy gene panel - VUB
  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
  AASS	100.00	0	No comment
  ABAT	100.00	0	No comment
  ABCB1	100.00	0	No comment
  ABCC8	99.81	0	No comment
  ABCD1	99.93	0	No comment
  ACADM	99.94	0	No comment
  ACADS	99.48	0	No comment
  ACADSB	100.00	0	No comment
  ACO2	100.00	0	No comment
  ACOX1	100.00	0	No comment
  ACSF3	100.00	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
  ADGRG1	100.00	0	No comment
  ADGRV1	100.00	0	No comment
  ADK	100.00	0	No comment
  ADRA2B	100.00	0	No comment
  ADSL	100.00	0	No comment
  AFG3L2	95.05	0	No comment
  AGA	100.00	0	No comment
  AGTR2	100.00	0	No comment
  AHI1	100.00	0	No comment
  AIFM1	100.00	0	No comment
  AIMP1	100.00	0	No comment
  AKT2	100.00	0	No comment
  AKT3	100.00	0	No comment
  ALDH18A1	100.00	0	No comment
  ALDH3A2	99.95	0	No comment
  ALDH4A1	97.15	0	No comment
  ALDH5A1	83.59	0	No comment
  ALDH7A1	100.00	0	No comment
  ALG1	92.65	0	No comment
  ALG11	100.00	0	No comment
  ALG12	100.00	0	No comment
  ALG13	99.96	0	No comment
  ALG2	99.94	0	No comment
  ALG3	99.22	0	No comment
  ALG6	100.00	0	No comment
  ALG8	95.91	0	No comment
  ALG9	98.65	0	No comment
  ALMS1	100.00	0	No comment
  AMACR	99.83	0	No comment
  AMER1	100.00	0	No comment
  AMT	99.94	0	No comment
  ANKH	100.00	0	No comment
  ANKRD11	100.00	0	No comment
  AP3B2	99.73	0	No comment
  AP4E1	100.00	0	No comment
  APTX	100.00	0	No comment
  AR	99.29	0	No comment
  ARFGEF2	100.00	0	No comment
  ARG1	100.00	0	No comment
  ARHGEF15	100.00	0	No comment
  ARHGEF9	100.00	0	No comment
  ARID1A	94.64	0	No comment
  ARID1B	92.99	0	No comment
  ARL13B	100.00	0	No comment
  ARSA	100.00	0	No comment
  SLURP1	85.73	0	No comment
  ARX	78.98	0	No comment
  ASAH1	99.94	0	No comment
  ASL	100.00	0	No comment
  ASNS	100.00	0	No comment
  ASPA	100.00	0	No comment
  ASPM	100.00	0	No comment
  ASS1	99.87	0	No comment
  ASXL1	99.91	0	No comment
  ATIC	99.06	0	No comment
  ATN1	100.00	0	No comment
  ATP1A2	100.00	0	No comment
  ATP1A3	100.00	0	No comment
  ATP2A2	100.00	0	No comment
  ATP5F1A	100.00	0	No comment
  ATP6AP2	99.95	0	No comment
  ATP6V0A2	100.00	0	No comment
  ATP7A	100.00	0	No comment
  ATPAF2	100.00	0	No comment
  ANTXR1	100.00	0	No comment
  ATRX	100.00	0	No comment
  ATXN10	99.48	0	No comment
  AUH	96.44	0	No comment
  AVPR2	100.00	0	No comment
  B3GALNT2	85.88	0	No comment
  B3GNT2	100.00	0	No comment
  B4GALT1	100.00	0	No comment
  B4GAT1	100.00	0	No comment
  BCAP31	100.00	0	No comment
  BCKDHA	100.00	0	No comment
  BCKDHB	100.00	0	No comment
  BCKDK	100.00	0	No comment
  BCS1L	100.00	0	No comment
  BOLA3	84.43	0	No comment
  BRAF	96.97	0	No comment
  BRAT1	100.00	0	No comment
  BRD2	95.47	0	No comment
  BTD	100.00	0	No comment
  BUB1B	100.00	0	No comment
  C12ORF57	100.00	0	No comment
  MTRFR	100.00	0	No comment
  CACNA1A	98.78	0	No comment
  CACNA1D	100.00	0	No comment
  CACNA1H	97.35	0	No comment
  CACNA2D1	100.00	0	No comment
  CACNA2D2	94.87	0	No comment
  CACNB4	100.00	0	No comment
  CAMK2B	99.93	0	No comment
  CASK	100.00	0	No comment
  CASQ2	100.00	0	No comment
  CASR	100.00	0	No comment
  CBL	100.00	0	No comment
  CBS	100.00	0	No comment
  CC2D2A	98.16	0	No comment
  CCBE1	99.97	0	No comment
  CCDC88C	99.92	0	No comment
  CCL2	100.00	0	No comment
  CCM2	99.98	0	No comment
  CDK5RAP2	100.00	0	No comment
  CDKL5	100.00	0	No comment
  CDON	100.00	0	No comment
  CELSR1	93.72	0	No comment
  CENPJ	100.00	0	No comment
  CEP135	100.00	0	No comment
  CEP152	100.00	0	No comment
  CEP164	100.00	0	No comment
  CEP290	99.99	0	No comment
  CEP41	100.00	0	No comment
  CEP63	95.17	0	No comment
  CERS1	77.89	0	No comment
  CHD2	100.00	0	No comment
  CHD8	100.00	0	No comment
  CHKB	99.69	0	No comment
  CHMP1A	100.00	0	No comment
  CHRNA2	100.00	0	No comment
  CHRNA4	97.18	0	No comment
  CHRNA7	97.88	0	No comment
  CHRNB2	99.92	0	No comment
  CLCN1	100.00	0	No comment
  CLCN2	100.00	0	No comment
  CLCN4	100.00	0	No comment
  CLCNKA	100.00	0	No comment
  CLCNKB	100.00	0	No comment
  CLDN16	100.00	0	No comment
  CLIC2	100.00	0	No comment
  CLN3	100.00	0	No comment
  CLN5	99.94	0	No comment
  CLN6	90.35	0	No comment
  CLN8	100.00	0	No comment
  CLPP	100.00	0	No comment
  CNTN2	100.00	0	No comment
  CNTNAP2	99.85	0	No comment
  COA5	100.00	0	No comment
  COG1	99.24	0	No comment
  COG4	100.00	0	No comment
  COG5	100.00	0	No comment
  COG6	100.00	0	No comment
  COG7	100.00	0	No comment
  COG8	100.00	0	No comment
  COL18A1	97.80	0	No comment
  COL4A1	98.71	0	No comment
  COL4A2	100.00	0	No comment
  COQ2	97.15	0	No comment
  COQ6	100.00	0	No comment
  COQ8A	100.00	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
  COX6B1	100.00	0	No comment
  CYP2A6	100.00	0	No comment
  CPLANE1	100.00	0	No comment
  CYP21A2	100.00	0	No comment
  CPT2	98.71	0	No comment
  CRH	100.00	0	No comment
  CRLF1	89.81	0	No comment
  CRPPA	95.75	0	No comment
  CSNK1G1	100.00	0	No comment
  CSPP1	100.00	0	No comment
  CSTB	99.03	0	No comment
  CTC1	100.00	0	No comment
  CTSA	100.00	0	No comment
  CTSD	99.45	0	No comment
  CTSF	87.32	0	No comment
  CUL4B	100.00	0	No comment
  CYP27A1	99.68	0	No comment
  CYP27B1	99.96	0	No comment
  D2HGDH	100.00	0	No comment
  DBT	100.00	0	No comment
  DCHS1	99.64	0	No comment
  DCX	100.00	0	No comment
  DDC	100.00	0	No comment
  DDOST	100.00	0	No comment
  DEPDC5	99.62	0	No comment
  DHCR24	99.96	0	No comment
  DHCR7	100.00	0	No comment
  DHDDS	100.00	0	No comment
  DHFR	99.48	0	No comment
  DLD	100.00	0	No comment
  DLGAP2	100.00	0	No comment
  DMD	100.00	0	No comment
  DNAJC5	100.00	0	No comment
  DNAJC6	100.00	0	No comment
  DNM1	94.44	0	No comment
  DOCK6	99.12	0	No comment
  DOCK7	99.17	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	99.91	0	No comment
  DYNC1H1	100.00	0	No comment
  DYRK1A	100.00	0	No comment
  EARS2	100.00	0	No comment
  ECM1	100.00	0	No comment
  EEF1A2	99.76	0	No comment
  EFHC1	100.00	0	No comment
  EFHC2	100.00	0	No comment
  EFTUD2	100.00	0	No comment
  EHMT1	98.85	0	No comment
  EIF2B1	100.00	0	No comment
  EIF2B2	100.00	0	No comment
  EIF2B3	100.00	0	No comment
  EIF2B4	100.00	0	No comment
  EIF2B5	100.00	0	No comment
  ELOVL4	100.00	0	No comment
  ELP1	100.00	0	No comment
  ELP4	92.12	0	No comment
  EMX2	100.00	0	No comment
  EOMES	98.56	0	No comment
  EPG5	100.00	0	No comment
  EPM2A	85.54	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	99.88	0	No comment
  EXOC6B	100.00	0	No comment
  EXOSC3	100.00	0	No comment
  EZH2	100.00	0	No comment
  FA2H	92.06	0	No comment
  FADD	92.08	0	No comment
  HYCC1	100.00	0	No comment
  FARS2	100.00	0	No comment
  FASTKD2	100.00	0	No comment
  FAT4	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FGD1	99.39	0	No comment
  FGF8	94.82	0	No comment
  FGFR3	99.26	0	No comment
  FH	100.00	0	No comment
  FKRP	98.68	0	No comment
  FKTN	100.00	0	No comment
  FLNA	100.00	0	No comment
  FLVCR2	100.00	0	No comment
  FMR1	100.00	0	No comment
  FOLR1	100.00	0	No comment
  FOXG1	85.88	0	No comment
  FOXH1	100.00	0	No comment
  FTO	100.00	0	No comment
  FUCA1	100.00	0	No comment
  GABBR2	95.78	0	No comment
  GABRA1	100.00	0	No comment
  GABRB2	100.00	0	No comment
  GABRB3	99.79	0	No comment
  GABRD	94.04	0	No comment
  GABRG2	92.03	0	No comment
  GAL	100.00	0	No comment
  GALC	98.44	0	No comment
  GALNS	96.18	0	No comment
  GAMT	98.60	0	No comment
  GATA3	100.00	0	No comment
  GATA6	81.11	0	No comment
  GATM	99.26	0	No comment
  GBA1	100.00	0	No comment
  GCDH	100.00	0	No comment
  GCH1	96.30	0	No comment
  GCK	100.00	0	No comment
  GCM2	100.00	0	No comment
  GCSH	76.04	0	No comment
  GFAP	100.00	0	No comment
  GFM1	100.00	0	No comment
  GJC2	81.91	0	No comment
  GLA	100.00	0	No comment
  GLB1	100.00	0	No comment
  GLDC	96.53	0	No comment
  GLI2	95.11	0	No comment
  GLI3	100.00	0	No comment
  GLRA1	100.00	0	No comment
  GLRB	100.00	0	No comment
  GLUD1	99.45	0	No comment
  GLUL	100.00	0	No comment
  GLYCTK	100.00	0	No comment
  GM2A	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNAO1	100.00	0	No comment
  GNE	100.00	0	No comment
  GNPTAB	100.00	0	No comment
  GNPTG	94.69	0	No comment
  GNS	100.00	0	No comment
  GOSR2	100.00	0	No comment
  GPC3	100.00	0	No comment
  GPHN	100.00	0	No comment
  GRIA3	100.00	0	No comment
  GRIN1	99.97	0	No comment
  GRIN2A	100.00	0	No comment
  GRIN2B	100.00	0	No comment
  GRINA	100.00	0	No comment
  GRN	100.00	0	No comment
  GTPBP3	100.00	0	No comment
  GUSB	100.00	0	No comment
  HADH	100.00	0	No comment
  HAX1	100.00	0	No comment
  HCCS	100.00	0	No comment
  HCFC1	100.00	0	No comment
  HCN1	95.88	0	No comment
  HCN4	92.35	0	No comment
  HDAC4	100.00	0	No comment
  HDAC8	100.00	0	No comment
  HEPACAM	96.82	0	No comment
  HERC2	99.62	0	No comment
  HESX1	100.00	0	No comment
  HEXA	100.00	0	No comment
  HEXB	99.82	0	No comment
  HGSNAT	93.95	0	No comment
  HLCS	100.00	0	No comment
  HMBS	100.00	0	No comment
  HNRNPU	99.54	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	99.53	0	No comment
  HYAL1	100.00	0	No comment
  IDH2	92.01	0	No comment
  IDS	100.00	0	No comment
  IDUA	88.67	0	No comment
  IER3IP1	99.93	0	No comment
  INPP5E	99.54	0	No comment
  INS	100.00	0	No comment
  INSR	97.31	0	No comment
  IQSEC2	99.73	0	No comment
  IVD	100.00	0	No comment
  JAM3	100.00	0	No comment
  JRK	100.00	0	No comment
  KANSL1	100.00	0	No comment
  KAT6A	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	99.89	0	No comment
  KCNC1	100.00	0	No comment
  KCND2	100.00	0	No comment
  KCNH1	100.00	0	No comment
  KCNH2	94.44	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	99.94	0	No comment
  KCNQ2	99.98	0	No comment
  KCNQ3	96.44	0	No comment
  KCNT1	99.74	0	No comment
  KCNV2	100.00	0	No comment
  KCTD7	97.35	0	No comment
  KDM5C	100.00	0	No comment
  KDM6A	100.00	0	No comment
  KIF11	100.00	0	No comment
  KIFBP	100.00	0	No comment
  KIF2A	98.88	0	No comment
  KIF4A	100.00	0	No comment
  KIF5C	100.00	0	No comment
  KIF7	96.94	0	No comment
  KMT2B	97.12	0	No comment
  KMT2D	100.00	0	No comment
  KNL1	98.62	0	No comment
  KPTN	100.00	0	No comment
  KRAS	100.00	0	No comment
  KRIT1	100.00	0	No comment
  L1CAM	100.00	0	No comment
  L2HGDH	99.96	0	No comment
  LAMA2	100.00	0	No comment
  LAMB1	100.00	0	No comment
  LAMC3	97.51	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	100.00	0	No comment
  LIG4	100.00	0	No comment
  LMBRD1	100.00	0	No comment
  LRFN1	100.00	0	No comment
  LRFN2	100.00	0	No comment
  LRFN3	99.97	0	No comment
  LRFN4	100.00	0	No comment
  LRFN5	100.00	0	No comment
  LRP2	99.96	0	No comment
  LRPPRC	99.14	0	No comment
  MAGI2	92.73	0	No comment
  MAGT1	100.00	0	No comment
  MAN1B1	99.99	0	No comment
  MAP2K1	100.00	0	No comment
  MAP2K2	99.98	0	No comment
  MAPK10	100.00	0	No comment
  MBD5	100.00	0	No comment
  MBTPS2	100.00	0	No comment
  MCCC1	100.00	0	No comment
  MCOLN1	97.27	0	No comment
  MCPH1	100.00	0	No comment
  ME2	100.00	0	No comment
  MECP2	98.28	0	No comment
  MED12	100.00	0	No comment
  MED17	100.00	0	No comment
  MEF2C	100.00	0	No comment
  MFSD8	100.00	0	No comment
  MGAT2	100.00	0	No comment
  MGME1	100.00	0	No comment
  MLC1	100.00	0	No comment
  MLYCD	85.50	0	No comment
  MMACHC	100.00	0	No comment
  MMADHC	100.00	0	No comment
  MMUT	100.00	0	No comment
  MOCS1	99.95	0	No comment
  MOCS2	100.00	0	No comment
  MOGS	98.73	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
  MYO5A	99.60	0	No comment
  NAA10	96.03	0	No comment
  NAGA	100.00	0	No comment
  NAGLU	87.38	0	No comment
  NALCN	100.00	0	No comment
  NDE1	100.00	0	No comment
  NDP	100.00	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
  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	100.00	0	No comment
  NDUFAF5	100.00	0	No comment
  NDUFAF6	93.73	0	No comment
  NDUFB3	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
  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
  NECAP1	100.00	0	No comment
  NEDD4L	100.00	0	No comment
  NEU1	100.00	0	No comment
  NEXMIF	100.00	0	No comment
  NF1	99.95	0	No comment
  NFIX	97.15	0	No comment
  NGLY1	99.98	0	No comment
  NHEJ1	100.00	0	No comment
  NHLRC1	99.73	0	No comment
  NIN	100.00	0	No comment
  NIPA2	100.00	0	No comment
  NIPBL	99.98	0	No comment
  NLGN4X	100.00	0	No comment
  NLGN4Y	55.32	0	No comment
  NODAL	99.99	0	No comment
  NOTCH3	92.99	0	No comment
  NPC1	98.40	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	98.52	0	No comment
  NSD1	100.00	0	No comment
  NSDHL	100.00	0	No comment
  NTRK2	100.00	0	No comment
  NUBPL	100.00	0	No comment
  NUS1	100.00	0	No comment
  OCLN	100.00	0	No comment
  OCRL	99.77	0	No comment
  OFD1	99.88	0	No comment
  OPHN1	100.00	0	No comment
  OTC	100.00	0	No comment
  OTX2	100.00	0	No comment
  PAFAH1B1	100.00	0	No comment
  PAH	99.94	0	No comment
  PAK3	100.00	0	No comment
  PANK2	98.60	0	No comment
  PAX6	100.00	0	No comment
  PODXL	100.00	0	No comment
  PCBD1	92.74	0	No comment
  PCDH19	99.91	0	No comment
  PCNT	100.00	0	No comment
  PDCD10	100.00	0	No comment
  PDE6D	100.00	0	No comment
  PDGFB	99.77	0	No comment
  PDGFRB	100.00	0	No comment
  PDHA1	98.17	0	No comment
  PDHX	99.87	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
  PEX1	100.00	0	No comment
  PEX10	88.47	0	No comment
  PEX11B	100.00	0	No comment
  PEX12	100.00	0	No comment
  PEX13	100.00	0	No comment
  PEX14	100.00	0	No comment
  PEX16	100.00	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	98.56	0	No comment
  PEX7	91.13	0	No comment
  PGAP2	100.00	0	No comment
  PGAP3	99.90	0	No comment
  PGK1	100.00	0	No comment
  PGM1	100.00	0	No comment
  PHF6	100.00	0	No comment
  PHGDH	100.00	0	No comment
  PIGA	100.00	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
  PIGQ	100.00	0	No comment
  PIGV	100.00	0	No comment
  PIK3AP1	99.56	0	No comment
  PIK3CA	100.00	0	No comment
  PIK3R2	89.19	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	100.00	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	99.90	0	No comment
  PPFIA1	100.00	0	No comment
  PPFIA2	100.00	0	No comment
  PPFIA3	98.81	0	No comment
  PPFIA4	100.00	0	No comment
  PPFIBP1	100.00	0	No comment
  PPFIBP2	100.00	0	No comment
  PPP2R2C	100.00	0	No comment
  PPT1	100.00	0	No comment
  PQBP1	100.00	0	No comment
  PRF1	100.00	0	No comment
  PRICKLE1	100.00	0	No comment
  PRICKLE2	100.00	0	No comment
  PRODH	86.43	0	No comment
  PRRT2	100.00	0	No comment
  PSAP	100.00	0	No comment
  PSAT1	100.00	0	No comment
  PTCH1	98.48	0	No comment
  PTEN	98.86	0	No comment
  PTH	100.00	0	No comment
  PTPN11	98.80	0	No comment
  PTS	100.00	0	No comment
  PURA	85.32	0	No comment
  QARS1	100.00	0	No comment
  QDPR	99.04	0	No comment
  RAB18	100.00	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	96.06	0	No comment
  RANGAP1	100.00	0	No comment
  RARS2	100.00	0	No comment
  RBBP8	100.00	0	No comment
  RBFOX1	99.94	0	No comment
  RBFOX3	99.96	0	No comment
  RELN	99.96	0	No comment
  RFT1	100.00	0	No comment
  RGMA	99.10	0	No comment
  RHOBTB2	100.00	0	No comment
  RNASEH2A	100.00	0	No comment
  RNASEH2B	95.67	0	No comment
  RNASEH2C	100.00	0	No comment
  RNASET2	99.98	0	No comment
  ROGDI	91.80	0	No comment
  RORB	100.00	0	No comment
  RPGRIP1L	96.45	0	No comment
  RPIA	100.00	0	No comment
  RRM2B	100.00	0	No comment
  RTTN	100.00	0	No comment
  RUBCN	97.68	0	No comment
  RXYLT1	99.84	0	No comment
  RYR3	100.00	0	No comment
  SAMHD1	100.00	0	No comment
  SATB2	100.00	0	No comment
  SCARB2	100.00	0	No comment
  SCN10A	100.00	0	No comment
  SCN1A	100.00	0	No comment
  SCN1B	94.12	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	100.00	0	No comment
  SCO2	100.00	0	No comment
  SDHA	98.02	0	No comment
  SDHAF1	96.03	0	No comment
  SEPSECS	99.97	0	No comment
  SERPINI1	100.00	0	No comment
  SETBP1	99.99	0	No comment
  SGSH	99.99	0	No comment
  SHANK3	83.99	0	No comment
  SHH	92.83	0	No comment
  SHOC2	100.00	0	No comment
  SHROOM4	100.00	0	No comment
  SIK1	100.00	0	No comment
  SIX3	99.59	0	No comment
  SLC12A5	100.00	0	No comment
  SLC12A6	100.00	0	No comment
  SLC13A5	100.00	0	No comment
  SLC16A1	100.00	0	No comment
  SLC16A2	100.00	0	No comment
  SLC17A5	100.00	0	No comment
  SLC19A3	100.00	0	No comment
  SLC1A3	100.00	0	No comment
  SLC20A2	100.00	0	No comment
  SLC25A1	93.77	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	99.94	0	No comment
  SLC2A2	100.00	0	No comment
  SLC35A1	100.00	0	No comment
  SLC35A2	100.00	0	No comment
  SLC35C1	100.00	0	No comment
  SLC3A2	88.97	0	No comment
  SLC46A1	99.95	0	No comment
  SLC4A10	100.00	0	No comment
  SLC6A1	100.00	0	No comment
  SLC6A5	100.00	0	No comment
  SLC6A8	98.78	0	No comment
  SLC9A6	99.96	0	No comment
  SLC9A9	100.00	0	No comment
  SMARCA1	99.59	0	No comment
  SMARCA2	98.07	0	No comment
  SMARCA4	100.00	0	No comment
  SMARCB1	100.00	0	No comment
  SMARCE1	100.00	0	No comment
  SMC1A	100.00	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	96.79	0	No comment
  SOX2	98.05	0	No comment
  SPRED1	100.00	0	No comment
  SPTAN1	100.00	0	No comment
  SRD5A3	99.42	0	No comment
  SRGAP3	100.00	0	No comment
  SRPX2	100.00	0	No comment
  ST3GAL3	100.00	0	No comment
  ST3GAL5	92.64	0	No comment
  STAMBP	100.00	0	No comment
  STIL	100.00	0	No comment
  STRADA	100.00	0	No comment
  STX1B	100.00	0	No comment
  STXBP1	100.00	0	No comment
  SUCLA2	100.00	0	No comment
  SUCLG1	95.74	0	No comment
  SUMF1	100.00	0	No comment
  SUOX	100.00	0	No comment
  SURF1	87.74	0	No comment
  SYN1	95.92	0	No comment
  SYNGAP1	100.00	0	No comment
  SYNJ1	99.96	0	No comment
  SYP	99.27	0	No comment
  SZT2	100.00	0	No comment
  TACO1	99.90	0	No comment
  TBC1D20	93.59	0	No comment
  TBC1D24	100.00	0	No comment
  TBCE	100.00	0	No comment
  TBX1	77.39	0	No comment
  TCF4	100.00	0	No comment
  TCTN1	93.78	0	No comment
  TCTN2	100.00	0	No comment
  TCTN3	100.00	0	No comment
  TGIF1	100.00	0	No comment
  TK2	95.90	0	No comment
  TMEM138	100.00	0	No comment
  TMEM165	89.91	0	No comment
  TMEM216	100.00	0	No comment
  TMEM231	100.00	0	No comment
  TMEM237	99.97	0	No comment
  TMEM67	100.00	0	No comment
  TMEM70	100.00	0	No comment
  TNK2	100.00	0	No comment
  ACD	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	100.00	0	No comment
  TSEN2	100.00	0	No comment
  TSEN34	100.00	0	No comment
  TSEN54	94.23	0	No comment
  TTC21B	100.00	0	No comment
  TTR	100.00	0	No comment
  TUBA1A	100.00	0	No comment
  TUBA8	100.00	0	No comment
  TUBB2A	99.99	0	No comment
  TUBB2B	100.00	0	No comment
  TUBB3	98.24	0	No comment
  TUBB4A	99.85	0	No comment
  TUBG1	100.00	0	No comment
  TUSC3	100.00	0	No comment
  TWNK	100.00	0	No comment
  TYROBP	100.00	0	No comment
  UBE2A	99.62	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
  VARS2	100.00	0	No comment
  VDAC1	99.21	0	No comment
  VLDLR	96.53	0	No comment
  VPS13A	100.00	0	No comment
  VPS13B	99.25	0	No comment
  VPS53	100.00	0	No comment
  VRK1	100.00	0	No comment
  WDR45	100.00	0	No comment
  WDR62	100.00	0	No comment
  WFS1	100.00	0	No comment
  WWOX	100.00	0	No comment
  XK	100.00	0	No comment
  ZBTB18	100.00	0	No comment
  ZC4H2	100.00	0	No comment
  ZDHHC9	100.00	0	No comment
  ZEB2	100.00	0	No comment
  ZIC2	80.54	0	No comment
  ZNF335	100.00	0	No comment

• pharmacogenes analysis
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCB1	100.00	1	,
  ABCC2	15.80	1	,
  ABCC4	12.40	1	,
  ABCG2	18.50	1	,
  ACE	14.50	1	,
  ADRB1	100.00	1	,
  ADRB2	100.00	1	,
  BCHE	100.00	1	,
  CDA	58.70	1	,
  COMT	75.00	1	,
  CYP1A2	100.00	1	,
  CYP2B6	100.00	1	,
  CYP2C19	100.00	1	,
  CYP2C8	88.60	1	,
  CYP2C9	100.00	1	,
  CYP2D6	100.00	1	,
  CYP3A4	78.40	1	,
  CYP3A5	72.00	1	,
  CYP4F2	31.00	1	,
  DPYD	100.00	1	,
  DRD2	23.60	1	,
  G6PD	94.60	1	,
  HTR2A	44.20	1	,
  ITPA	21.30	1	,
  MTHFR	35.20	1	,
  NAT2	100.00	1	,
  NR1I2	21.70	1	,
  NR1I3	48.00	1	,
  NUDT15	100.00	1	,
  OPRM1	24.00	1	,
  P2RY12	51.00	1	,
  POR	27.00	1	,
  RYR1	5.70	1	,
  SLC22A1	42.30	1	,
  SLCO1B1	77.40	1	,
  TPMT	100.00	1	,
  TYMS	20.70	1	,
  UGT1A1	69.00	1	,
  UGT1A4	69.00	1	,
  UGT2B7	9.80	1	,
  VKORC1	100.00	1	,