YME1L1 | Belgian Genetic Tests database

Analyte Export to PDF
Name:	YME1 like 1 ATPase
Symbol:	YME1L1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	YME1L
XREF(s):	Orphanet OMIM HGNC SwissProt Ensembl
Created:	04 Feb 2020 - 15:15
Changed:	22 Jun 2023 - 16:14

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Details

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

Optic atrophy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ACO2	99.99	1
AFG3L2	99.97	1
ATAD3A	99.62	1
AUH	99.95	1
C19ORF12	99.99	1
CISD2	96.27	1
DNAJC19	99.76	1
DNAJC30	100.00	1
DNM1L	99.40	1
FDXR	99.99	1
MCAT	99.99	1
MECR	99.63	1
MFF	99.97	1
MFN2	99.98	1
MTPAP	99.97	1
MTRFR	99.87	1
NBAS	99.86	1
NDUFS1	99.79	1
NDUFS2	99.66	1
NR2F1	99.99	1
MED12	99.95	1
OPA3	100.00	1
POLG	100.00	1
RTN4IP1	99.98	1
SLC25A46	99.88	1
SLC44A1	99.90	1
SLC52A2	100.00	1
SPG7	99.99	1
SSBP1	100.00	1
TIMM8A	100.00	1
TMEM126A	99.88	1
TSFM	100.00	1
WFS1	99.99	1
YME1L1	99.87	1
ZNHIT3	62.89	1

mitochondrial disease, nuclear based (343 genes) - VUB

Details

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