Amish infantile epilepsy syndrome

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Name:	Amish infantile epilepsy syndrome
ORPHAcode:	171714
Synonyms:	Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome
XREF(s):	Orphanet ICD-10 OMIM
Analyte(s):	ST3GAL5
Created:	13 May 2019 - 01:02
Changed:	01 Feb 2020 - 12:07

Related Genetic Tests

• Congenital disorders of glycosylation (79 genes)
• Epilepsy gene panel

Related Laboratories

• Centrum Medische Genetica - UZ Brussel VUB
• Centrum Menselijke Erfelijkheid - KUL

Related Analytes

• ST3GAL5

Related Gene Panels

• Congenital disorders of glycosylation (79 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ALDOB	95.00	0	NM_000035.3/ interpretable range CS1>95%
  ALG1	95.00	0	NM_019109.4/ interpretable range CS1>95%
  ALG10	95.00	0	NM_032834.3/ interpretable range CS1>95%
  ALG11	95.00	0	NM_001004127.2/ interpretable range CS1>95%
  ALG12	95.00	0	NM_024105.3/ interpretable range CS1>95%
  ALG13	95.00	0	NM_001099922.2/ interpretable range CS1>95%
  ALG14	95.00	0	NM_144988.3/ interpretable range CS1>95%
  ALG2	95.00	0	NM_033087.3/ interpretable range CS1>95%
  ALG3	95.00	0	NM_005787.5/ interpretable range CS1>95%
  ALG5	95.00	0	NM_013338.4/ interpretable range CS1>95%
  ALG6	95.00	0	NM_013339.3/ interpretable range CS1>95%
  ALG8	95.00	0	NM_024079.4/ interpretable range CS1>95%
  ALG9	95.00	0	NM_024740.2/ interpretable range CS1>95%
  ATP6V0A2	95.00	0	NM_012463.3/ interpretable range CS1>95%
  ATP9B	95.00	0	NM_198531.4/ interpretable range CS1>95%
  B3GLCT	95.00	0	NM_194318.3/ interpretable range CS1>95%
  B4GALT1	95.00	0	NM_001497.3/ interpretable range CS1>95%
  COG1	95.00	0	NM_018714.2/ interpretable range CS1>95%
  COG2	95.00	0	NM_007357.2/ interpretable range CS1>95%
  COG3	95.00	0	NM_031431.3/ interpretable range CS1>95%
  COG4	95.00	0	NM_015386.2/ interpretable range CS1>95%
  COG5	95.00	0	NM_006348.3/ interpretable range CS1>95%
  COG6	95.00	0	NM_020751.2/ interpretable range CS1>95%
  COG7	95.00	0	NM_153603.3/ interpretable range CS1>95%
  COG8	95.00	0	NM_032382.4/ interpretable range CS1>95%
  DAD1	95.00	0	NM_001344.3/ interpretable range CS1>95%
  DDOST	95.00	0	NM_005216.4/ interpretable range CS1>95%
  DHDDS	95.00	0	NM_024887.3/ interpretable range CS1>95%
  DOLK	95.00	0	NM_014908.3/ interpretable range CS1>95%
  DPAGT1	95.00	0	NM_001382.3/ interpretable range CS1>95%
  DPM1	95.00	0	NM_003859.2/ interpretable range CS1>95%
  DPM2	95.00	0	NM_003863.3/ interpretable range CS1>95%
  DPM3	95.00	0	NM_153741.1/ interpretable range CS1>95%
  FKRP	95.00	0	NM_024301.4/ interpretable range CS1>95%
  FKTN	95.00	0	NM_001079802.1/ interpretable range CS1>95%
  FUT1	95.00	0	NM_000148.3/ interpretable range CS1>95%
  GALE	95.00	0	NM_000403.3/ interpretable range CS1>95%
  GALK1	95.00	0	NM_000154.1/ interpretable range CS1>95%
  GALT	95.00	0	NM_000155.3/ interpretable range CS1>95%
  GFPT1	95.00	0	NM_002056.3/ interpretable range CS1>95%
  GMPPA	95.00	0	NM_205847.2/ interpretable range CS1>95%
  GMPPB	95.00	0	NM_013334.3/ interpretable range CS1>95%
  GNE	95.00	0	NM_001128227.2/ interpretable range CS1>95%
  LARGE1	95.00	0	NM_004737.6/ interpretable range CS1>95%
  MAGT1	95.00	0	NM_032121.5/ interpretable range CS1>95%
  MAN1B1	95.00	0	NM_016219.4/ interpretable range CS1>95%
  MGAT1	95.00	0	NM_001114618.1/ interpretable range CS1>95%
  MGAT2	95.00	0	NM_002408.3/ interpretable range CS1>95%
  MOGS	95.00	0	NM_006302.2/ interpretable range CS1>95%
  MPDU1	95.00	0	NM_004870.3/ interpretable range CS1>95%
  MPI	95.00	0	NM_002435.2/ interpretable range CS1>95%
  OST4	95.00	0	NM_001134693.1/ interpretable range CS1>95%
  PGM1	95.00	0	NM_002633.2/ interpretable range CS1>95%
  PGM2	95.00	0	NM_018290.3/ interpretable range CS1>95%
  PGM3	95.00	0	NM_001199917.1/ interpretable range CS1>95%
  PIGA	95.00	0	NM_002641.3/ interpretable range CS1>95%
  PIGL	95.00	0	NM_004278.3/ interpretable range CS1>95%
  PIGM	95.00	0	NM_145167.2/ interpretable range CS1>95%
  PIGN	95.00	0	NM_176787.4/ interpretable range CS1>95%
  PIGV	95.00	0	NM_017837.3/ interpretable range CS1>95%
  PMM2	95.00	0	NM_000303.2/ interpretable range CS1>95%
  POMGNT1	95.00	0	NM_017739.3/ interpretable range CS1>95%
  POMT1	95.00	0	NM_007171.3/ interpretable range CS1>95%
  POMT2	95.00	0	NM_013382.5/ interpretable range CS1>95%
  RFT1	95.00	0	NM_052859.3/ interpretable range CS1>95%
  RPN1	95.00	0	NM_002950.3/ interpretable range CS1>95%
  RPN2	95.00	0	NM_002951.4/ interpretable range CS1>95%
  SEC23B	95.00	0	NM_032985.5/ interpretable range CS1>95%
  SLC35A1	95.00	0	NM_006416.4/ interpretable range CS1>95%
  SLC35A3	95.00	0	NM_012243.2/ interpretable range CS1>95%
  SLC35C1	95.00	0	NM_018389.4/ interpretable range CS1>95%
  SLC35D1	95.00	0	NM_015139.2/ interpretable range CS1>95%
  SRD5A3	95.00	0	NM_024592.4/ interpretable range CS1>95%
  ST3GAL3	95.00	0	NM_174963.4/ interpretable range CS1>95%
  ST3GAL5	95.00	0	NM_003896.3/ interpretable range CS1>95%
  STT3A	95.00	0	NM_152713.4/ interpretable range CS1>95%
  STT3B	95.00	0	NM_178862.2/ interpretable range CS1>95%
  TMEM165	95.00	0	NM_018475.4/ interpretable range CS1>95%
  TUSC3	95.00	0	NM_006765.3/ interpretable range CS1>95%

• 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