CFH | Belgian Genetic Tests database

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Name:	complement factor H
Symbol:	CFH
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	ARMD4 ARMS1 FHL1 H factor 2 (complement) HUS age-related maculopathy susceptibility 1 beta-1H
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

Related Diseases

Related Gene Panels

Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ADAMTS13	100.00	1	NM_139027.6
C3	100.00	1	NM_000064.4
C5	100.00	1	NM_001735.3
CD46	100.00	1	NM_172351.3
CFB	100.00	1	NM_001710.6
CFH	100.00	1	NM_000186.4
CFHR1	93.00	1	NM_002113.3
CFHR2	91.00	1	NM_005666.4
CFHR3	100.00	1	NM_021023.6
CFHR4	100.00	1	NM_001201550.3
CFHR5	100.00	1	NM_030787.4
CFI	100.00	1	NM_000204.5
DGKE	100.00	1	NM_003647.3
MMACHC	100.00	1	NM_015506.3
PLG	100.00	1	NM_000301.5
THBD	100.00	1	NM_000361.3

Cardiomyopathy, hereditary (208 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCC9	100.00	No comment
ACAD9	100.00	No comment
ACADVL	98.89	No comment
ACE	97.11	No comment
ACTA1	100.00	No comment
ACTC1	100.00	No comment
ACTN2	100.00	No comment
ADD3	100.00	No comment
ADRB2	100.00	No comment
AGXT	100.00	No comment
AGTR1	100.00	No comment
AKAP9	100.00	No comment
ALPK3	98.02	No comment
ANKRD1	100.00	No comment
APOA1	99.97	No comment
B2M	100.00	No comment
BAG3	100.00	No comment
BRAF	96.97	No comment
CACNA1C	100.00	No comment
CACNB2	100.00	No comment
CALM1	100.00	No comment
CALM2	100.00	No comment
CALM3	99.99	No comment
CALR3	100.00	No comment
CASQ2	100.00	No comment
CASZ1	95.56	No comment
CAV3	100.00	No comment
CAVIN4	100.00	No comment
CBL	100.00	No comment
CDH2	97.48	No comment
CHRM2	100.00	No comment
CMYA5	99.99	No comment
CNBP	100.00	No comment
COA5	100.00	No comment
COA6	100.00	No comment
COX10	100.00	No comment
COX15	100.00	No comment
CRYAB	100.00	No comment
CSRP3	100.00	No comment
CTF1	30.96	No comment
CTNNA3	100.00	No comment
DES	100.00	No comment
DLG1	100.00	No comment
DMD	100.00	No comment
DNAJC19	100.00	No comment
DNM1L	100.00	No comment
DOLK	100.00	No comment
DSC3	98.44	No comment
DSG2	99.61	No comment
DSP	100.00	No comment
DTNA	100.00	No comment
ECRG4	99.32	No comment
ELAC2	99.99	No comment
ELN	100.00	No comment
EMD	99.84	No comment
EYA4	100.00	No comment
FBXO32	100.00	No comment
CFH	100.00	No comment
FHL2	100.00	No comment
FHOD3	100.00	No comment
FKRP	98.68	No comment
FKTN	100.00	No comment
FLNC	100.00	No comment
FLT1	99.53	No comment
FOXD4	100.00	No comment
FXN	89.89	No comment
GAA	100.00	No comment
GATA4	80.69	No comment
GATA5	97.28	No comment
GATA6	81.11	No comment
GATAD1	88.18	No comment
GLA	100.00	No comment
GTPBP3	100.00	No comment
HACD1	95.46	No comment
HADHB	100.00	No comment
HAND1	100.00	No comment
HCN4	92.35	No comment
HIF1A	100.00	No comment
HRAS	100.00	No comment
HSPB6	99.65	No comment
HSPB7	100.00	No comment
ILK	100.00	No comment
INS-IGF2	99.94	No comment
ISL1	100.00	No comment
JPH2	95.10	No comment
JUP	100.00	No comment
KARS1	100.00	No comment
KAT2B	94.80	No comment
KCND2	100.00	No comment
KCNE1	100.00	No comment
KCNH2	94.44	No comment
KCNJ12	100.00	No comment
KCNQ1	91.07	No comment
KIF20A	100.00	No comment
KLF10	100.00	No comment
LAMA2	100.00	No comment
LAMA4	100.00	No comment
LAMP2	100.00	No comment
LDB3	100.00	No comment
LMNA	99.93	No comment
LRRC10	100.00	No comment
MAP2K1	100.00	No comment
MAP2K2	99.98	No comment
MIB1	100.00	No comment
MIB2	99.31	No comment
MRPL3	100.00	No comment
MRPL44	100.00	No comment
MTO1	95.75	No comment
MYBPC3	100.00	No comment
MYH15	100.00	No comment
MYH6	100.00	No comment
MYH7	100.00	No comment
MYH7B	99.96	No comment
MYL2	100.00	No comment
MYL3	100.00	No comment
MYLK2	100.00	No comment
MYO6	100.00	No comment
MYOM1	100.00	No comment
MYOM3	100.00	No comment
MYOZ1	100.00	No comment
MYOZ2	100.00	No comment
MYPN	100.00	No comment
NAA10	96.03	No comment
NCOA6	100.00	No comment
NDUFAF1	100.00	No comment
NDUFV2	100.00	No comment
NEB	99.99	No comment
NEBL	100.00	No comment
NEXN	100.00	No comment
NKX2-5	100.00	No comment
NPPA	100.00	No comment
NRAP	100.00	No comment
OBSCN	99.26	No comment
OBSL1	98.31	No comment
MED12	100.00	No comment
PDLIM3	100.00	No comment
PKP2	99.87	No comment
PLEC	99.82	No comment
PLEKHM2	99.60	No comment
PLN	100.00	No comment
PPCS	100.00	No comment
PRDM16	100.00	No comment
PRKAG2	95.88	No comment
PRNP	100.00	No comment
PSEN1	100.00	No comment
PSEN2	100.00	No comment
PTEN	98.86	No comment
PTPN11	98.80	No comment
RAF1	100.00	No comment
RANGRF	100.00	No comment
RBM20	99.82	No comment
RIT1	100.00	No comment
RPSA	97.87	No comment
RRAGC	99.99	No comment
RTKN2	100.00	No comment
RYR2	100.00	No comment
S100A1	100.00	No comment
SCN4B	100.00	No comment
SCN5A	100.00	No comment
SDHA	98.02	No comment
SGCB	94.58	No comment
SGCD	100.00	No comment
SGCG	100.00	No comment
SGK1	99.99	No comment
SHOC2	100.00	No comment
SLC12A1	100.00	No comment
SLC22A5	100.00	No comment
SLC25A3	100.00	No comment
SLC25A4	99.09	No comment
SMC1A	100.00	No comment
SNTA1	84.25	No comment
SOD2	100.00	No comment
SOS1	100.00	No comment
SYNE1	100.00	No comment
SYNE2	100.00	No comment
SYNM	92.59	No comment
TAF1A	100.00	No comment
TAX1BP3	100.00	No comment
WWTR1	99.81	No comment
TBX20	100.00	No comment
TBX5	100.00	No comment
TCAP	100.00	No comment
TCF21	100.00	No comment
TGFB3	100.00	No comment
TJP1	99.14	No comment
TK2	95.90	No comment
TMED4	100.00	No comment
TMEM43	100.00	No comment
TMEM87B	99.37	No comment
TMPO	99.87	No comment
TNNI3	100.00	No comment
TNNI3K	100.00	No comment
TNNT2	100.00	No comment
TNNT3	100.00	No comment
TPM1	99.98	No comment
TRIM54	99.66	No comment
TRIM55	100.00	No comment
TRIM63	100.00	No comment
TRPM4	100.00	No comment
TSFM	93.22	No comment
TTN	100.00	No comment
TTR	100.00	No comment
TXNRD2	96.90	No comment
VCL	100.00	No comment
VEGFA	98.73	No comment
YWHAE	98.69	No comment
ZBTB17	100.00	No comment

Cardiopathies, hereditary (102 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCC9	95.00	NM_005691.4 / interpretable range CS1>95%
ACTC1	95.00	NM_005159.5 / interpretable range CS1>95%
ACTN2	95.00	NM_001103.4 / nterpretable range CS1>95%
AKAP9	95.00	NM_005751.5 /interpretable range CS1>95%
ANK2	95.00	NM_001148.6 / interpretable range CS1>95%
ANKRD1	95.00	NM_014391.3 / interpretable range CS1>95%
BAG3	95.00	NM_004281.4 / interpretable range CS1>95%
CACNA1C	95.00	NM_000719.7 / interpretable range CS1>95%
CACNA1D	95.00	NM_000720.4 / interpretable range CS1>95%
CACNA2D1	95.00	NM_000722.4 / interpretable range CS1>95%
CACNB2	95.00	NM_201590.3 / interpretable range CS1>95%
CALM1	95.00	NM_006888.6 / interpretable range CS1>95%
CALM2	95.00	NM_001743.6 / interpretable range CS1>95%
CALM3	95.00	NM_005184.4 / interpretable range CS1>95%
CALR3	95.00	NM_145046.5 / interpretable range CS1>95%
CASQ2	95.00	NM_001232.4 / interpretable range CS1>95%
CAV3	95.00	NM_033337.3 / interpretable range CS1>95%
CDH2	95.00	NM_001792.5 / interpretable range CS1>95%
CRYAB	95.00	NM_001885.3 / interpretable range CS1>95%
CSRP3	95.00	NM_003476.5 / interpretable range CS1>95%
CTNNA3	95.00	NM_013266.4 / interpretable range CS1>95%
DES	95.00	NM_001927.4 / interpretable range CS1>95%
DSC3	95.00	NM_024422.6 / interpretable range CS1>95%
DSG2	95.00	NM_001943.5 / interpretable range CS1>95%
DSP	95.00	NM_004415.4 / interpretable range CS1>95%
DTNA	95.00	NM_001390.4 / interpretable range CS1>95%
CFH	95.00	NM_001449.5 / interpretable range CS1>95%
FHOD3	95.00	NM_025135.5 / interpretable range CS1>95%
FKTN	95.00	NM_001079802.2 / interpretable range CS1>95%
FLNC	95.00	NM_001458.5 / interpretable range CS1>95%
GJA5	95.00	NM_005266.7 / interpretable range CS1>95%
GLA	95.00	NM_000169.3 / interpretable range CS1>95%
GPD1L	95.00	NM_015141.4 / interpretable range CS1>95%
HCN4	95.00	NM_005477.3 / interpretable range CS1>95%
JPH2	95.00	NM_020433.5 / interpretable range CS1>95%
JUP	95.00	NM_002230.4 / interpretable range CS1>95%
KCNA5	95.00	NM_002234.4 / interpretable range CS1>95%
KCND2	95.00	NM_012281.3 / interpretable range CS1>95%
KCND3	95.00	NM_004980.5 / interpretable range CS1>95%
KCNE1	95.00	NM_000219.6 / interpretable range CS1>95%
KCNE2	95.00	NM_172201.2 / interpretable range CS1>95%
KCNE3	95.00	NM_005472.5 / interpretable range CS1>95%
KCNE5	95.00	NM_012282.4 / interpretable range CS1>95%
KCNH2	95.00	NM_000238.4 / interpretable range CS1>95%
KCNJ2	95.00	NM_000891.3 / interpretable range CS1>95%
KCNJ5	95.00	NM_000890.5 / interpretable range CS1>95%
KCNJ8	95.00	NM_004982.4 / interpretable range CS1>95%
KCNQ1	95.00	NM_000218.3 / interpretable range CS1>95%
LAMA4	95.00	NM_002290.5 / interpretable range CS1>95%
LAMP2	95.00	NM_002294.3 / interpretable range CS1>95%
LDB3	95.00	NM_001080116.1 / interpretable range CS1>95%
LMNA	95.00	NM_170707.4 / interpretable range CS1>95%
MIB1	95.00	NM_020774.4 / interpretable range CS1>95%
MYBPC3	95.00	NM_000256.3 / interpretable range CS1>95% / MLPA only in de frame of "Familial hypertrophic cardiomyopathy"
MYH6	95.00	NM_002471.4 / interpretable range CS1>95%
MYH7	95.00	NM_000257.4 / interpretable range CS1>95%
MYL2	95.00	NM_000432.4 / interpretable range CS1>95%
MYL3	95.00	NM_000258.3 / interpretable range CS1>95%
MYLK2	95.00	NM_033118.4 / interpretable range CS1>95%
MYOZ2	95.00	NM_016599.5 / interpretable range CS1>95%
MYPN	95.00	NM_032578.4 / interpretable range CS1>95%
NEXN	95.00	NM_144573.4 / interpretable range CS1>95%
NKX2-5	95.00	NM_004387.4 / interpretable range CS1>95%
NOS1AP	95.00	NM_014697.3 / interpretable range CS1>95%
NPPA	95.00	NM_006172.4 / interpretable range CS1>95%
NUP155	95.00	NM_153485.3 / interpretable range CS1>95%
PITX2	95.00	NM_153427.2 / interpretable range CS1>95%
PKP2	95.00	NM_004572.4 / interpretable range CS1>95%
PLN	95.00	NM_002667.5 / interpretable range CS1>95%
PRKAG2	95.00	NM_016203.4 / interpretable range CS1>95%
RBM20	95.00	NM_001134363.3 / interpretable range CS1>95%
RYR2	95.00	NM_001035.3 / interpretable range CS1>95%
SLC4A3	95.00	NM_201574.2 / interpretable range CS1>95%
SCN10A	95.00	NM_006514.4 / interpretable range CS1>95%
SCN1B	95.00	NM_001037.5 / interpretable range CS1>95%
SCN2B	95.00	NM_004588.5 / interpretable range CS1>95%
SCN3B	95.00	NM_018400.4 / interpretable range CS1>95%
SCN4B	95.00	NM_174934.4 / interpretable range CS1>95%
SCN5A	95.00	NM_198056.3 / interpretable range CS1>95%
SEMA3A	95.00	NM_006080.3 / interpretable range CS1>95%
SGCD	95.00	NM_000337.6 / interpretable range CS1>95%
SNTA1	95.00	NM_003098.3 / interpretable range CS1>95%
WWTR1	95.00	NM_000116.5 / interpretable range CS1>95%
TBX20	95.00	NM_001077653.2 / interpretable range CS1>95%
TCAP	95.00	NM_003673.4 / interpretable range CS1>95%
TECRL	95.00	NM_001010874.5 / interpretable range CS1>95%
TGFB3	95.00	NM_003239.5 / interpretable range CS1>95%
TJP1	95.00	NM_003257.5 / interpretable range CS1>95%
TMEM43	95.00	NM_024334.3 / interpretable range CS1>95%
TMPO	95.00	NM_003276.2 / interpretable range CS1>95%
TNNI3	95.00	NM_000363.5 / interpretable range CS1>95%
TNNI3K	95.00	NM_015978.3 / interpretable range CS1>95%
TNNT2	95.00	NM_001001430.3 / interpretable range CS1>95%
TPM1	95.00	NM_001018005.2 / interpretable range CS1>95%
TRDN	95.00	NM_006073.4 / interpretable range CS1>95%
TRIM63	95.00	NM_032588.4 / interpretable range CS1>95%
TRPM4	95.00	NM_017636.4 / interpretable range CS1>95%
TTN	95.00	NM_001267550.1 / interpretable range CS1>95%
TTR	95.00	NM_000371.4 / interpretable range CS1>95%
TXNRD2	95.00	NM_006440.5 / interpretable range CS1>95%
VCL	95.00	NM_014000.3 / interpretable range CS1>95%

Hereditary Hemolytic Anemias (52 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
GYPA	93.49	hemolytic anemia
HBG1	94.93	hemolytic anemia
ADAMTS13	95.39	hemolytic anemia
MYB	96.76	hemolytic anemia
PFKFB1	97.48	hemolytic anemia
PIEZO1	97.92	hemolytic anemia
ADA	97.95	hemolytic anemia
PIGA	98.95	hemolytic anemia
CFHR1	99.06	hemolytic anemia
GYPC	99.28	hemolytic anemia
G6PD	99.40	hemolytic anemia
CFHR3	99.87	hemolytic anemia
PGK1	99.88	hemolytic anemia
THBD	99.88	hemolytic anemia
SPTB	99.90	hemolytic anemia
TPI1	99.90	hemolytic anemia
CDAN1	99.91	hemolytic anemia
SEC23B	99.97	hemolytic anemia
SPTA1	99.98	hemolytic anemia
GPI	99.99	hemolytic anemia
AK1	100.00	hemolytic anemia
ALDOA	100.00	hemolytic anemia
ANK1	100.00	hemolytic anemia
BCL11A	100.00	hemolytic anemia
BPGM	100.00	hemolytic anemia
C3	100.00	hemolytic anemia
CD46	100.00	hemolytic anemia
CFB	100.00	hemolytic anemia
CFH	100.00	hemolytic anemia
CFHR4	100.00	hemolytic anemia
CFI	100.00	hemolytic anemia
DGKE	100.00	hemolytic anemia
EPB41	100.00	hemolytic anemia
EPB42	100.00	hemolytic anemia
GATA1	100.00	hemolytic anemia
GSS	100.00	hemolytic anemia
HBB	100.00	hemolytic anemia
HBG2	100.00	hemolytic anemia
HK1	100.00	hemolytic anemia
KLF1	100.00	hemolytic anemia
NT5C3A	100.00	hemolytic anemia
PIGT	100.00	hemolytic anemia
PKLR	100.00	hemolytic anemia
SLC4A1	100.00	hemolytic anemia
STOM	100.00	hemolytic anemia
UGT1A1	100.00	hemolytic anemia

Leukodystrophy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS2	99.98	1
ABAT	99.98	1
ABCD1	99.98	1
ACBD5	99.97	1
ACER3	99.76	1
ACOX1	99.98	1
ACP5	100.00	1
ACTL6B	99.90	1
ADAR	99.84	1
ADGRG1	99.90	1
ADSL	99.93	1
AGA	99.92	1
AIFM1	99.92	1
AIMP1	99.97	1
AIMP2	99.99	1
ALDH3A2	99.95	1
ALDH5A1	96.19	1
APP	99.92	1
ARSA	99.99	1
ASAH1	99.90	1
ASPA	99.98	1
ATAD3A	99.62	1
ATP7A	99.87	1
ATP7B	100.00	1
AUH	99.95	1
B3GALNT2	92.79	1
BCAP31	99.95	1
BCS1L	99.99	1
BOLA3	99.22	1
BTD	100.00	1
CBS	17.79	1
CIC	98.32	1
CLCN2	100.00	1
CLN3	99.92	1
CLN5	100.00	1
CLN6	100.00	1
CLN8	100.00	1
CNP	99.98	1
CNTNAP1	99.98	1
COA8	99.94	1
COL4A1	99.99	1
COL4A2	99.98	1
COX10	99.99	1
COX15	100.00	1
CYP21A2	99.91	1
CSF1R	99.92	1
CTC1	100.00	1
CTSA	99.98	1
CTSD	100.00	1
CTSF	99.96	1
CYP27A1	100.00	1
DAG1	100.00	1
DARS1	98.85	1
DARS2	98.31	1
DCAF17	99.84	1
DDHD2	99.97	1
DEGS1	99.99	1
DGUOK	99.93	1
DLAT	99.65	1
DLD	99.89	1
DMXL2	99.86	1
DNAJC5	99.99	1
EARS2	99.96	1
ECHS1	100.00	1
EIF2AK1	99.90	1
EIF2AK2	99.70	1
EIF2B1	99.98	1
EIF2B2	99.90	1
EIF2B3	97.26	1
EIF2B4	99.96	1
EIF2B5	99.98	1
EPRS1	99.53	1
ERCC2	99.98	1
ERCC3	99.90	1
ERCC6	99.60	1
ERCC8	99.79	1
FA2H	99.98	1
HYCC1	99.81	1
FAR1	99.82	1
FARS2	100.00	1
FASTKD2	99.93	1
FBXL4	100.00	1
FDX2	99.99	1
CFH	99.97	1
FIG4	99.83	1
FKTN	99.94	1
FLVCR2	100.00	1
FOLR1	100.00	1
FUCA1	98.72	1
GALC	99.92	1
GALT	100.00	1
GAN	99.98	1
GBE1	99.73	1
GFAP	99.99	1
GFM1	99.95	1
GFM2	99.87	1
GJA1	100.00	1
GJB1	100.00	1
GJC2	100.00	1
GLA	99.90	1
GLB1	100.00	1
GM2A	100.00	1
GNAS	100.00	1
GPHN	99.94	1
GRN	100.00	1
GTF2H5	100.00	1
HEPACAM	100.00	1
HEXA	99.99	1
HEXB	99.91	1
HIKESHI	99.78	1
HLCS	99.97	1
HMGCL	99.31	1
HSD17B4	99.71	1
HSPD1	83.42	1
HTRA1	100.00	1
IBA57	100.00	1
IFIH1	99.84	1
IKBKG	57.34	1
ISCA2	100.00	1
IVD	100.00	1
JAM3	100.00	1
KARS1	99.98	1
L2HGDH	99.92	1
LAMA2	99.95	1
LARGE1	100.00	1
LARS2	99.96	1
LIPT1	99.89	1
LIPT2	99.99	1
LMNB1	99.73	1
LYRM7	99.98	1
MAN2B1	99.99	1
MANBA	99.81	1
MARS2	100.00	1
MCOLN1	100.00	1
MFSD8	99.70	1
MLC1	99.99	1
MMUT	99.68	1
MOCS1	99.95	1
MOCS2	99.96	1
MPLKIP	99.99	1
MPV17	99.98	1
MRPS34	100.00	1
MTFMT	99.98	1
MTHFR	99.97	1
MTO1	90.25	1
NAXD	99.99	1
NAXE	99.99	1
NDUFA2	99.95	1
NDUFA9	100.00	1
NDUFAF1	100.00	1
NDUFAF3	100.00	1
NDUFAF4	99.95	1
NDUFAF6	99.86	1
NDUFS1	99.79	1
NDUFS2	99.66	1
NDUFS4	99.99	1
NDUFS7	99.99	1
NDUFS8	100.00	1
NDUFV1	99.99	1
NEU1	99.98	1
NKX6-2	100.00	1
NOTCH3	99.99	1
NPC1	99.99	1
NPC2	100.00	1
NTNG2	99.98	1
NUBPL	99.62	1
OCLN	82.91	1
OCRL	99.89	1
PAH	99.96	1
PARS2	99.99	1
PCCA	99.90	1
PCCB	99.97	1
PDGFB	99.99	1
PDGFRB	99.99	1
PDHA1	99.04	1
PDHB	99.94	1
PDHX	99.64	1
PDP1	100.00	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
PLEKHG2	99.99	1
PLP1	99.98	1
PLPBP	99.99	1
PMPCB	99.94	1
PNPT1	99.56	1
POLG	100.00	1
POLR1C	100.00	1
POLR3A	99.97	1
POLR3B	99.94	1
POLR3K	100.00	1
POMGNT1	99.69	1
POMT1	99.96	1
POMT2	99.98	1
PPT1	97.48	1
PRF1	100.00	1
PSAP	99.94	1
PSAT1	99.98	1
PSPH	99.09	1
PYCR2	99.95	1
QDPR	99.92	1
RARS1	99.76	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNASET2	99.99	1
SAMHD1	99.98	1
SCP2	94.94	1
SDHA	99.98	1
SDHAF1	99.99	1
SDHAF2	99.96	1
SDHB	97.32	1
SDHD	82.93	1
SEPSECS	99.78	1
SGO1	99.90	1
SHANK3	98.45	1
SLC13A3	99.98	1
SLC16A2	99.97	1
SLC17A5	99.71	1
SLC20A2	99.95	1
SLC25A12	99.72	1
SLC44A1	99.90	1
SLC7A2	99.97	1
SNAP29	99.85	1
SNORD118	100.00	1
SOX10	100.00	1
SPG11	99.89	1
STN1	99.88	1
STX11	100.00	1
STXBP2	100.00	1
SUCLA2	99.96	1
SUMF1	99.95	1
SUOX	100.00	1
SURF1	100.00	1
TACO1	100.00	1
TMEM106B	99.92	1
TMEM63A	99.91	1
ACD	99.99	1
TREM2	100.00	1
TREX1	100.00	1
TSEN54	100.00	1
TTR	100.00	1
TUBB4A	100.00	1
TWNK	100.00	1
TYMP	99.87	1
TYROBP	99.95	1
UBTF	99.99	1
UFM1	99.25	1
UNC13D	100.00	1
VPS11	99.99	1
WARS2	97.72	1
WT1	99.99	1
XPR1	99.13	1
ZFYVE26	100.00	1

Nephropathies, hereditary (219 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACE	95.00	NM_000789.4
ACTN4	95.00	NM_004924.6
AGT	95.00	NM_001384479.1
AGTR1	95.00	NM_031850.4
AGXT	95.00	NM_000030.3
ALG5	95.00	NM_013338.5
ALG8	95.00	NM_024079.5
ALG9	95.00	NM_024740.2
AMN	95.00	NM_030943.4
ANKS6	95.00	NM_173551.5
ANLN	95.00	NM_018685.5
ANOS1	95.00	NM_000216.4
AP2S1	95.00	NM_004069.6
APOA1	95.00	NM_000039.3
APOA2	95.00	NM_001643.2
APOC2	95.00	NM_000483.5
APOE	95.00	NM_000041.4
APOL1	95.00	NM_003661.4
APRT	95.00	NM_000485.3
ARHGAP24	95.00	NM_001025616.3
ARHGDIA	95.00	NM_001185077.3
ATP6V0A4	95.00	NM_020632.3
ATP6V1B1	95.00	NM_001692.4
BMP4	95.00	NM_001202.6
BNC2	95.00	NM_017637.6
BSND	95.00	NM_057176.3
C3	95.00	NM_000064.4
CA2	95.00	NM_000067.3
CACNA1D	95.00	NM_000720.4
CACNA1H	95.00	NM_021098.3
CASR	95.00	NM_000388.4
CD2AP	95.00	NM_012120.3
CD46	95.00	NM_002389.4
CDC73	95.00	NM_024529.5
CDK20	95.00	NM_001039803.3
CEP164	95.00	NM_014956.5
CEP290	95.00	NM_025114.4
CEP83	95.00	NM_016122.3
CFB	95.00	NM_001710.6
CFH	95.00	NM_000186.4
CFHR1	95.00	NM_002113.3
CFHR3	95.00	NM_021023.6
CFHR5	95.00	NM_030787.4
CFI	95.00	NM_000204.5
CLCN2	95.00	NM_004366.6
CLCN5	95.00	NM_000084.5
CLCNKA	95.00	NM_004070.4
CLCNKB	95.00	NM_000085.5
CLDN10	95.00	NM_006984.5
CLDN16	95.00	NM_006580.4
CLDN19	95.00	NM_148960.3
CNNM2	95.00	NM_017649.5
COL4A1	95.00	NM_001845.6
COL4A3	95.00	NM_000091.5
COL4A4	95.00	NM_000092.5
COL4A5	95.00	NM_000495.5
COQ2	95.00	NM_015697.9
COQ6	95.00	NM_182476.3
COQ8B	95.00	NM_024876.4
CRB2	95.00	NM_173689.7
CTNS	95.00	NM_004937.3
CUBN	95.00	NM_001081.4
CUL3	95.00	NM_003590.5
CYP11B1	95.00	NM_000497.4
CYP11B2	95.00	NM_000498.3
CYP17A1	95.00	NM_000102.4
CYP24A1	95.00	NM_000782.5
DAAM2	95.00	NM_001201427.2
DGKE	95.00	NM_003647.3
DLEC1	95.00	NM_182643.3
DNAJB11	95.00	NM_016306.6
DSTYK	95.00	NM_015375.3
DZIP1L	95.00	NM_173543.3
EGF	95.00	NM_001963.6
EHHADH	95.00	NM_001966.4
EMP2	95.00	NM_001424.6
EYA1	95.00	NM_000503.6
FAM20A	95.00	NM_017565.4
FAN1	95.00	NM_014967.5
FAT1	95.00	NM_005245.4
FGA	95.00	NM_021871.4
FGF20	95.00	NM_019851.3
FGF23	95.00	NM_020638.3
FN1	95.00	NM_212482.4
FOXC1	95.00	NM_001453.3
FOXC2	95.00	NM_005251.3
FOXI1	95.00	NM_012188.5
FXYD2	95.00	NM_001680.5
GANAB	95.00	NM_198335.4
GATA3	95.00	NM_001002295.2
GATM	95.00	NM_001482.3
GDNF	95.00	NM_000514.4
GLA	95.00	NM_000169.3
GLIS2	95.00	NM_032575.3
GNA11	95.00	NM_002067.5
GREB1L	95.00	NM_001142966.3
GRHPR	95.00	NM_012203.2
GRIP1	95.00	NM_021150.4
GSN	95.00	NM_000177.5
HNF1A	95.00	NM_000545.8
HNF1B	95.00	NM_000458.4
HNF4A	95.00	NM_175914.5
HOGA1	95.00	NM_138413.4
HOXA13	95.00	NM_000522.5
HPRT1	95.00	NM_000194.3
HSD11B2	95.00	NM_000196.4
IFT140	95.00	NM_014714.4
IFT81	95.00	NM_014055.4
INF2	95.00	NM_022489.4
INVS	95.00	NM_014425.5
ITGA8	95.00	NM_003638.3
ITSN1	95.00	NM_003024.3
ITSN2	95.00	NM_147152.3
JAG1	95.00	NM_000214.3
KANK2	95.00	NM_001136191.3
KCNA1	95.00	NM_000217.3
KCNJ1	95.00	NM_000220.6
KCNJ10	95.00	NM_002241.5
KCNJ5	95.00	NM_000890.5
KIRREL1	95.00	NM_018240.7
KL	95.00	NM_004795.4
KLHL3	95.00	NM_017415.3
LAMB2	95.00	NM_002292.4
LCAT	95.00	NM_000229.2
LDHD	95.00	NM_153486.4
LHX1	95.00	NM_005568.5
LIFR	95.00	NM_002310.6
LMX1B	95.00	NM_002316.4
LYZ	95.00	NM_000239.3
MAGED2	95.00	NM_177433.3
MAGI2	95.00	NM_012301.4
MAPKBP1	95.00	NM_001128608.2
MMACHC	95.00	NM_015506.3
MOCOS	95.00	NM_017947.4
MTX2	95.00	NM_006554.5
MUC1	95.00	NM_002456.6
MYH9	95.00	NM_002473.6
MYO1E	95.00	NM_004998.4
NEK8	95.00	NM_178170.3
NOTCH2	95.00	NM_024408.4
NPHP1	95.00	NM_000272.5
NPHP3	95.00	NM_153240.5
NPHP4	95.00	NM_015102.5
NPHS1	95.00	NM_004646.4
NPHS2	95.00	NM_014625.4
NR3C1	95.00	NM_001018077.1
NR3C2	95.00	NM_000901.5
NUP107	95.00	NM_020401.4
NUP133	95.00	NM_018230.3
NUP160	95.00	NM_015231.3
NUP85	95.00	NM_024844.5
NUP93	95.00	NM_014669.5
OCRL	95.00	NM_000276.4
OFD1	95.00	NM_003611.3
PAX2	95.00	NM_003987.5
PBX1	95.00	NM_002585.4
PCBD1	95.00	NM_000281.4
PDSS2	95.00	NM_020381.4
PHEX	95.00	NM_000444.6
PKD1	95.00	NM_001009944.3
PKD2	95.00	NM_000297.4
PKHD1	95.00	NM_138694.4
PLCE1	95.00	NM_016341.4
PODXL	95.00	NM_005397.4
PRPS1	95.00	NM_002764.4
PTPRO	95.00	NM_030667.3
REN	95.00	NM_000537.4
RET	95.00	NM_020975.6
ROBO2	95.00	NM_002942.5
SALL1	95.00	NM_002968.3
SARS2	95.00	NM_017827.4
SCARB2	95.00	NM_005506.4
SCNN1A	95.00	NM_001038.6
SCNN1B	95.00	NM_000336.3
SCNN1G	95.00	NM_001039.4
SDCCAG8	95.00	NM_006642.5
SEC61A1	95.00	NM_013336.4
SGPL1	95.00	NM_003901.4
SIX1	95.00	NM_005982.4
SIX5	95.00	NM_175875.5
SLC12A1	95.00	NM_000338.3
SLC12A3	95.00	NM_000339.3
SLC22A12	95.00	NM_144585.4
SLC26A1	95.00	NM_213613.4
SLC2A2	95.00	NM_000340.2
SLC2A9	95.00	NM_020041.3
SLC34A1	95.00	NM_003052.5
SLC34A3	95.00	NM_080877.3
SLC3A1	95.00	NM_000341.4
SLC4A1	95.00	NM_000342.4
SLC4A4	95.00	NM_003759.4
SLC5A2	95.00	NM_003041.4
SLC7A9	95.00	NM_014270.5
SLIT2	95.00	NM_004787.4
SMARCAL1	95.00	NM_014140.4
TBC1D1	95.00	NM_015173.4
TBC1D8B	95.00	NM_017752.3
TBX18	95.00	NM_001080508.3
TNS2	95.00	NM_015319.2
TRAF3IP1	95.00	NM_015650.4
TRAP1	95.00	NM_016292.3
TRIM8	95.00	NM_030912.3
TRPC6	95.00	NM_004621.6
TRPM6	95.00	NM_017662.5
TSC1	95.00	NM_000368.5
TSC2	95.00	NM_000548.5
TTC21B	95.00	NM_024753.5
TTR	95.00	NM_000371.4
UMOD	95.00	NM_003361.4
VHL	95.00	NM_000551.4
WDR19	95.00	NM_025132.4
WDR72	95.00	NM_182758.4
WFS1	95.00	NM_006005.3
WNK1	95.00	NM_018979.4
WNK4	95.00	NM_032387.5
WNT4	95.00	NM_030761.5
WT1	95.00	NM_024426.6
XDH	95.00	NM_000379.4
XPNPEP3	95.00	NM_022098.4

Nephropathy panel - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ACE	99.98	1
ACTG2	99.99	1
ACTN4	100.00	1
ADAMTS13	100.00	1
ADAMTS9	99.94	1
ADCY10	99.77	1
AGXT	100.00	1
AGTR1	99.97	1
AHI1	99.86	1
ALDOB	100.00	1
ALG1	86.66	1
ALG8	95.49	1
ALG9	99.73	1
ALMS1	99.90	1
ALPL	99.88	1
ABCD1	100.00	1
ANKS6	100.00	1
ANLN	99.85	1
ANOS1	99.96	1
AP2S1	99.98	1
APOA1	100.00	1
APOA2	99.84	1
APOL1	99.99	1
APRT	100.00	1
AQP2	100.00	1
ARHGAP24	99.86	1
ARHGDIA	100.00	1
ARL13B	99.53	1
ARL6	99.90	1
ARSA	99.99	1
ATP6V0A4	99.93	1
ATP6V1B1	99.98	1
ATP7B	100.00	1
NLRP3	100.00	1
AVPR2	100.00	1
B9D1	99.80	1
B9D2	99.88	1
BBIP1	99.99	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
BICC1	99.76	1
BMP4	100.00	1
BMP7	100.00	1
BSND	99.92	1
C3	100.00	1
C5	99.92	1
CA2	99.62	1
CACNA1S	99.96	1
CASR	99.99	1
CC2D2A	99.95	1
CCDC39	99.74	1
CCNQ	99.98	1
CD151	100.00	1
CD2AP	99.69	1
CD46	99.86	1
CDC5L	99.83	1
CDKN1C	100.00	1
CEP104	99.99	1
CEP120	99.90	1
CEP164	99.99	1
CEP290	98.10	1
CEP41	99.99	1
CEP83	98.68	1
CFAP418	100.00	1
CFB	99.97	1
CFH	99.12	1
CFHR1	84.44	1
CFHR2	90.26	1
CFHR3	91.62	1
CFHR4	99.86	1
CFHR5	99.68	1
CFI	99.87	1
CHD1L	98.53	1
CHD7	99.99	1
CHRM3	100.00	1
CHRNA3	99.95	1
CLCN5	99.67	1
CLCN7	99.99	1
CLCNKA	99.98	1
CLCNKB	99.98	1
CLDN10	99.97	1
CLDN16	99.98	1
CLDN19	99.02	1
CNNM2	99.94	1
COL4A1	99.99	1
COL4A3	99.94	1
COL4A4	99.95	1
COL4A5	99.64	1
COQ2	99.90	1
COQ6	99.94	1
COQ7	100.00	1
COQ8A	100.00	1
COQ8B	99.94	1
COQ9	99.62	1
CPLANE1	99.81	1
CPT2	99.65	1
CRB2	99.95	1
CSPP1	98.31	1
CTNS	100.00	1
CUBN	99.99	1
CUL3	99.76	1
CYP11B2	100.00	1
CYP24A1	100.00	1
DAAM2	99.99	1
DCDC2	99.96	1
DGKE	99.10	1
DMP1	99.99	1
DNAJB11	99.97	1
DSTYK	99.83	1
DYNC2H1	99.66	1
DYNC2I1	99.99	1
DZIP1L	98.46	1
EGF	99.96	1
EGFR	99.68	1
EHHADH	99.99	1
EMP2	100.00	1
ENPP1	99.88	1
EVC	99.95	1
EVC2	99.97	1
EYA1	99.81	1
FANCA	99.98	1
FAHD2A	100.00	1
FAM186B	99.99	1
FAM20A	100.00	1
FAN1	99.73	1
FAT1	99.99	1
FGA	99.98	1
FGF20	99.71	1
FGF23	100.00	1
FGFR1	100.00	1
FH	99.95	1
FLCN	99.51	1
FN1	99.95	1
FRAS1	99.97	1
FREM1	99.98	1
FREM2	99.97	1
FXYD2	100.00	1
G6PC1	99.93	1
GALNT3	99.52	1
GALT	100.00	1
GANAB	99.97	1
GATA3	99.96	1
GATM	99.92	1
GDNF	99.99	1
GLA	99.90	1
GLI3	100.00	1
GLIS2	100.00	1
GNA11	99.99	1
GON7	99.92	1
GPC3	99.60	1
GRHPR	99.93	1
GRIP1	99.83	1
GSN	99.93	1
HNF1B	100.00	1
HNF4A	100.00	1
HOGA1	100.00	1
HPRT1	97.80	1
HPSE2	100.00	1
HSD11B2	99.99	1
IFT122	99.98	1
IFT140	100.00	1
IFT172	99.98	1
IFT27	100.00	1
IFT43	99.97	1
IFT80	99.69	1
IFT81	94.64	1
INCENP	99.99	1
INF2	99.99	1
INPP5E	99.85	1
INVS	99.94	1
IQCB1	99.72	1
ITGA3	99.86	1
ITGA8	99.95	1
ITGB4	99.99	1
JAG1	100.00	1
KANK1	99.99	1
KANK2	99.99	1
KANK4	99.70	1
KCNA1	100.00	1
KCNJ1	100.00	1
KCNJ10	99.98	1
KIAA0586	95.75	1
KIF14	97.80	1
KIF7	100.00	1
KL	99.98	1
KLHL3	99.97	1
LAGE3	99.99	1
LAMB2	99.99	1
LMNA	99.96	1
LMX1B	100.00	1
LRIG2	97.97	1
LRP2	99.86	1
LRP5	99.95	1
LRP6	99.91	1
LYZ	99.86	1
LZTFL1	100.00	1
MAGED2	99.98	1
MAGI2	99.89	1
MAPKBP1	99.98	1
MET	99.97	1
MKKS	100.00	1
MKS1	99.92	1
MMACHC	99.98	1
MUC1	99.98	1
MYH9	99.95	1
MYO1E	99.94	1
NEIL1	99.99	1
NEK1	99.83	1
NEK9	99.99	1
NOTCH2	99.03	1
NPHP1	99.05	1
NPHP3	99.89	1
NPHP4	99.98	1
NPHS1	99.97	1
NPHS2	99.87	1
NR3C2	100.00	1
NUP107	97.46	1
NUP133	99.45	1
NUP205	99.92	1
NUP93	99.87	1
NXF5	96.29	1
OCRL	99.89	1
OFD1	99.68	1
PAX2	99.99	1
PAX8	99.99	1
PBX1	99.88	1
PCBD1	99.84	1
PDE6D	99.94	1
PDSS1	95.70	1
PDSS2	99.87	1
PHEX	99.83	1
PKD1	99.98	1
PKD2	99.91	1
PKHD1	99.95	1
PLCE1	99.98	1
PLG	99.89	1
PMM2	99.93	1
PRKCSH	99.99	1
PSAP	99.94	1
PTEN	99.89	1
PTPRO	99.91	1
PYGM	99.96	1
RBM48	99.09	1
RCOR1	99.97	1
REN	99.85	1
RET	99.97	1
ROBO2	99.80	1
RPGRIP1	99.95	1
RPGRIP1L	96.35	1
RRM2B	99.97	1
SALL1	100.00	1
SALL4	100.00	1
SARS2	99.99	1
SCARB2	99.99	1
SCNN1A	100.00	1
SCNN1B	99.38	1
SCNN1G	99.94	1
SDCCAG8	100.00	1
SDHB	97.32	1
SDHD	82.93	1
SEC61A1	99.99	1
SEC63	99.84	1
SGPL1	99.95	1
SIX1	100.00	1
SIX2	100.00	1
SIX5	100.00	1
SLC12A1	99.90	1
SLC12A3	99.84	1
SLC22A12	99.99	1
SLC26A1	100.00	1
SLC26A3	99.97	1
SLC2A2	99.96	1
SLC2A9	99.98	1
SLC34A1	99.99	1
SLC34A3	100.00	1
SLC37A4	99.90	1
SLC3A1	99.98	1
SLC41A1	99.98	1
SLC4A1	99.94	1
SLC4A4	99.97	1
SLC7A9	99.97	1
NHERF1	100.00	1
SMARCAL1	99.97	1
SOX17	100.00	1
SRGAP1	99.68	1
STRADA	99.98	1
STX16	100.00	1
SYNPO	100.00	1
TBC1D1	99.96	1
TBC1D8B	99.31	1
TBX18	99.50	1
TCTN1	99.92	1
TCTN2	99.99	1
TCTN3	99.92	1
THBD	100.00	1
TMEM107	100.00	1
TMEM138	100.00	1
TMEM216	99.98	1
TMEM231	88.88	1
TMEM237	99.30	1
TMEM67	99.69	1
TNFRSF25	99.98	1
TNXB	90.86	1
TP53RK	81.09	1
TRAP1	100.00	1
TRIM32	100.00	1
TRPC6	99.99	1
TRPM6	99.93	1
TSC1	99.99	1
TSC2	99.98	1
TTC21B	99.50	1
TTC8	99.67	1
UMOD	99.98	1
UPK3A	100.00	1
UPK3B	99.62	1
VDR	99.86	1
VHL	100.00	1
VIPAS39	99.87	1
VPS33B	99.95	1
WDPCP	99.87	1
WDR19	99.80	1
WDR35	99.92	1
WDR4	99.95	1
WDR73	99.92	1
WNK1	99.98	1
WNK4	99.98	1
WNT4	99.94	1
WT1	99.99	1
XDH	99.97	1
XPNPEP3	99.99	1
XPO5	99.89	1
YRDC	99.85	1
ZMPSTE24	98.70	1
ZMYM2	99.88	1
ZNF423	98.94	1

Neuromuscular disorders (548 genes) - ULB

Details

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

Neuromuscular disorders (166 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACADVL	0.00	No value for column 2
ACTA1	0.00	No value for column 2
AGRN	0.00	No value for column 2
ALDOA	0.00	No value for column 2
ALG14	0.00	No value for column 2
ALG2	99.94	No comment
ALS2	100.00	No comment
ANG	100.00	No comment
ANO5	100.00	No comment
ASAH1	99.94	No comment
ATP7A	100.00	No comment
ATXN2	89.10	No comment
B3GALNT2	85.88	No comment
B4GAT1	100.00	No comment
BAG3	100.00	No comment
BICD2	100.00	No comment
BIN1	100.00	No comment
BSCL2	100.00	No comment
C9ORF72	100.00	No comment
CAV3	100.00	No comment
CFL2	99.75	No comment
CHAT	100.00	No comment
CHKB	99.69	No comment
CHRNA1	100.00	No comment
CHRNB1	100.00	No comment
CHRND	100.00	No comment
CHRNE	100.00	No comment
CHRNG	100.00	No comment
COL6A1	100.00	No comment
COL6A2	100.00	No comment
COL6A3	100.00	No comment
COLQ	100.00	No comment
CPT2	98.71	No comment
CRPPA	95.75	No comment
CRYAB	100.00	No comment
DAG1	100.00	No comment
DAO	100.00	No comment
DCTN1	100.00	No comment
DES	100.00	No comment
DGUOK	100.00	No comment
DMD	100.00	No comment
DNAJB2	100.00	No comment
DNAJB6	99.34	No comment
DNM2	99.95	No comment
DOK7	98.77	No comment
DOLK	100.00	No comment
DPAGT1	100.00	No comment
DPM1	100.00	No comment
DPM2	100.00	No comment
DPM3	100.00	No comment
DYNC1H1	100.00	No comment
DYSF	100.00	No comment
ECEL1	95.92	No comment
EMD	99.84	No comment
ENO3	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
EXOSC3	100.00	No comment
FBLN5	100.00	No comment
FBXO38	100.00	No comment
FDX2	100.00	No comment
CFH	100.00	No comment
FKRP	98.68	No comment
FKTN	100.00	No comment
FLNC	100.00	No comment
FUS	100.00	No comment
GAA	100.00	No comment
GARS1	99.53	No comment
GFPT1	99.98	No comment
GLE1	100.00	No comment
GMPPB	100.00	No comment
GNE	100.00	No comment
GRN	100.00	No comment
HADHA	100.00	No comment
HADHB	100.00	No comment
HARS1	100.00	No comment
HEXB	99.82	No comment
HNRNPA1	99.61	No comment
HNRNPA2B1	100.00	No comment
HSPB1	100.00	No comment
HSPB3	100.00	No comment
HSPB8	100.00	No comment
IGHMBP2	100.00	No comment
ISCU	99.39	No comment
KBTBD13	97.91	No comment
KLHL40	100.00	No comment
KLHL9	100.00	No comment
LAMA2	100.00	No comment
LAMB2	100.00	No comment
LARGE1	100.00	No comment
LAS1L	100.00	No comment
LDB3	100.00	No comment
LMNA	99.93	No comment
LPIN1	100.00	No comment
CORIN	98.90	No comment
MATR3	100.00	No comment
MEGF10	100.00	No comment
MTM1	100.00	No comment
MUSK	100.00	No comment
MYBPC3	100.00	No comment
MYH7B	100.00	No comment
MYH3	100.00	No comment
MYH7	100.00	No comment
MYH8	100.00	No comment
MYOT	100.00	No comment
NEB	99.99	No comment
NEFH	84.73	No comment
OPTN	100.00	No comment
PABPN1	91.84	No comment
PFKM	100.00	No comment
PFN1	100.00	No comment
PGAM2	100.00	No comment
PGK1	100.00	No comment
PGM1	100.00	No comment
PHKA1	100.00	No comment
PHKB	100.00	No comment
PLEC	99.82	No comment
PLEKHG5	99.10	No comment
POLG	100.00	No comment
POMGNT1	100.00	No comment
POMGNT2	100.00	No comment
POMK	100.00	No comment
POMT1	100.00	No comment
POMT2	99.90	No comment
PREPL	100.00	No comment
PYGM	100.00	No comment
QDPR	99.04	No comment
RAPSN	100.00	No comment
REEP1	97.37	No comment
RXYLT1	99.84	No comment
RYR1	98.38	No comment
SCN4A	100.00	No comment
SELENON	84.04	No comment
SETX	100.00	No comment
SIGMAR1	96.60	No comment
SIL1	100.00	No comment
SLC18A3	100.00	No comment
SLC52A2	100.00	No comment
SLC52A3	100.00	No comment
SLC5A7	100.00	No comment
SMN1	96.55	No comment
SNAP25	100.00	No comment
SOD1	100.00	No comment
SQSTM1	93.68	No comment
SYT2	100.00	No comment
TAF15	100.00	No comment
TARDBP	100.00	No comment
TFG	100.00	No comment
TIA1	100.00	No comment
TNNI2	100.00	No comment
TNNT1	98.58	No comment
TNNT3	100.00	No comment
TNPO3	100.00	No comment
TPM2	100.00	No comment
TPM3	99.55	No comment
TRPV4	100.00	No comment
TSEN54	94.23	No comment
TTN	100.00	No comment
UBA1	100.00	No comment
UBQLN2	99.88	No comment
UNC13A	99.87	No comment
VAPB	100.00	No comment
VCP	98.45	No comment
VEGFA	98.73	No comment
VRK1	100.00	No comment

Neuromuscular disorders (232 genes) - KUL

Details

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

Neuromuscular disorders - UGent

Details

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

Panel Nephro-ULG-V1

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACE	97.24	,
ACTG2	100.00	,
ACTN4	100.00	,
ADAMTS13	96.63	,
ADAMTS9	100.00	,
ADCY10	100.00	,
AGT	100.00	,
AGTR1	100.00	,
AGXT	100.00	,
ALDOB	100.00	,
ALG5	100.00	,
ALG8	100.00	,
ALG9	99.28	,
ALMS1	100.00	,
ALPL	100.00	,
AMN	86.23	,
ANKS6	91.46	,
ANLN	100.00	,
ANOS1	94.70	,
AP2S1	100.00	,
APOA1	100.00	,
APOL1	100.00	,
APRT	100.00	,
AQP2	100.00	,
ARHGAP24	99.80	,
ARHGDIA	100.00	,
ARL6	100.00	,
ATP6V0A4	100.00	,
ATP6V1B1	100.00	,
ATP7B	100.00	,
ATXN10	99.92	,
AVIL	100.00	,
AVPR2	100.00	,
B2M	100.00	,
B9D1	100.00	,
B9D2	100.00	,
BBIP1	100.00	,
BBS1	100.00	,
BBS10	100.00	,
BBS12	100.00	,
BBS2	100.00	,
BBS4	100.00	,
BBS5	100.00	,
BBS7	100.00	,
BBS9	100.00	,
BICC1	99.81	,
BMP4	100.00	,
BMP7	100.00	,
BNC2	100.00	,
BSND	100.00	,
C3	100.00	,
CA2	100.00	,
CASR	100.00	,
CC2D2A	100.00	,
CD151	100.00	,
CD2AP	100.00	,
CD46	100.00	,
CDC5L	100.00	,
CDC73	100.00	,
CENPF	100.00	,
CEP164	100.00	,
CEP290	99.95	,
CEP41	100.00	,
CEP55	100.00	,
CEP83	100.00	,
CFB	100.00	,
CFH	100.00	,
CFHR1	95.06	,
CFHR3	99.44	,
CFHR5	100.00	,
CFI	100.00	,
CHD1L	99.95	,
CHD7	100.00	,
CHRM3	100.00	,
CHRNA3	99.35	,
CLCN5	100.00	,
CLCNKA	100.00	,
CLCNKB	100.00	,
CLDN10	100.00	,
CLDN16	100.00	,
CLDN19	100.00	,
CNNM2	99.42	,
COL4A1	99.52	,
COL4A3	99.47	,
COL4A4	100.00	,
COL4A5	99.90	,
COL4A6	99.82	,
COQ2	95.50	,
COQ6	100.00	,
COQ8A	100.00	,
COQ8B	100.00	,
CRB2	94.59	,
CSPP1	100.00	,
CTNS	100.00	,
CTU2	98.44	,
CUBN	100.00	,
CUL3	100.00	,
CYP24A1	100.00	,
DAAM2	100.00	,
DCDC2	100.00	,
DGKE	100.00	,
DHCR7	99.99	,
DIS3L2	100.00	,
DMP1	100.00	,
DNAJB11	100.00	,
DSTYK	100.00	,
DYNC2H1	99.97	,
DZIP1L	100.00	,
EGF	100.00	,
EGFR	99.63	,
EHHADH	100.00	,
EMP2	100.00	,
EYA1	100.00	,
FAH	100.00	,
FAM20A	99.78	,
CCNQ	82.12	,
FAN1	100.00	,
FAT1	100.00	,
FGA	100.00	,
FGF20	99.13	,
FGF23	100.00	,
FH	100.00	,
FLCN	100.00	,
FN1	99.98	,
FRAS1	100.00	,
FREM1	100.00	,
FREM2	100.00	,
FXYD2	100.00	,
G6PC1	100.00	,
GALT	100.00	,
GANAB	100.00	,
GATA3	100.00	,
GATM	100.00	,
GLA	100.00	,
GLI3	100.00	,
GLIS2	100.00	,
GNA11	99.87	,
GPC3	99.84	,
GREB1L	100.00	,
GRHPR	100.00	,
GRIP1	100.00	,
GSN	100.00	,
HAAO	100.00	,
HNF1B	100.00	,
HNF4A	100.00	,
HOGA1	100.00	,
HOXA13	71.26	,
HPRT1	97.10	,
HPSE2	100.00	,
HSD11B2	78.40	,
IFT122	100.00	,
IFT140	99.96	,
IFT172	100.00	,
IFT27	100.00	,
IFT80	100.00	,
INF2	99.98	,
INVS	100.00	,
IQCB1	100.00	,
ITGA3	99.70	,
ITGA8	99.76	,
JAG1	99.83	,
KANK1	100.00	,
KANK2	100.00	,
KANK4	100.00	,
KCNA1	100.00	,
KCNJ1	100.00	,
KCNJ10	100.00	,
KCNJ16	100.00	,
KDM6A	99.90	,
KL	95.50	,
KLHL3	100.00	,
KMT2D	100.00	,
KYNU	99.98	,
LAMA5	98.59	,
LAMB2	100.00	,
LIFR	100.00	,
LMX1B	100.00	,
LRIG2	99.95	,
LRP2	100.00	,
LRP4	99.14	,
LRP5	97.83	,
LRP6	100.00	,
LYZ	100.00	,
LZTFL1	100.00	,
MAGED2	99.94	,
MAGI2	93.63	,
MAPKBP1	100.00	,
MET	100.00	,
MKKS	100.00	,
MKS1	100.00	,
MMACHC	100.00	,
MUC1	100.00	,
MYH9	100.00	,
MYO1E	100.00	,
MYOCD	100.00	,
NADSYN1	100.00	,
NEK8	100.00	,
NIPBL	100.00	,
NOTCH2	100.00	,
NPHP1	100.00	,
NPHP3	99.73	,
NPHP4	100.00	,
NPHS1	100.00	,
NPHS2	100.00	,
NR3C2	100.00	,
NRIP1	100.00	,
NUP107	100.00	,
NUP133	100.00	,
NUP160	100.00	,
NUP205	100.00	,
NUP85	100.00	,
NUP93	100.00	,
NXF5	0.00	,
OCRL	99.96	,
OFD1	100.00	,
PAX2	100.00	,
PBX1	100.00	,
PCBD1	92.70	,
PDE6D	100.00	,
PDSS2	100.00	,
PHEX	98.98	,
PKD1	96.86	,
PKD2	92.32	,
PKHD1	100.00	,
PLCE1	100.00	,
PLG	100.00	,
PLVAP	100.00	,
PMM2	100.00	,
PODXL	90.59	,
PRKCSH	100.00	,
PTPRO	100.00	,
REN	100.00	,
RET	99.35	,
ROBO1	100.00	,
ROBO2	100.00	,
ROR2	98.01	,
RPGRIP1L	99.18	,
RRAGD	99.90	,
RRM2B	100.00	,
SALL1	100.00	,
SARS2	100.00	,
SCARB2	100.00	,
SCNN1A	100.00	,
SCNN1B	100.00	,
SCNN1G	100.00	,
SDCCAG8	100.00	,
SDHB	100.00	,
SDHD	100.00	,
SEC61A1	100.00	,
SEC63	99.95	,
SGPL1	99.92	,
SIX1	100.00	,
SIX2	100.00	,
SIX5	93.51	,
SLC12A1	100.00	,
SLC12A3	100.00	,
SLC1A1	100.00	,
SLC22A12	100.00	,
SLC26A1	100.00	,
SLC26A3	100.00	,
SLC2A2	100.00	,
SLC2A9	100.00	,
SLC34A1	100.00	,
SLC34A3	100.00	,
SLC3A1	100.00	,
SLC41A1	100.00	,
SLC4A1	100.00	,
SLC4A4	100.00	,
SLC5A2	100.00	,
SLC6A19	100.00	,
SLC7A7	100.00	,
SLC7A9	100.00	,
NHERF1	100.00	,
SLIT2	99.95	,
SMARCAL1	100.00	,
SOX17	99.26	,
STRA6	100.00	,
STX16	100.00	,
TBC1D1	100.00	,
TBC1D8B	100.00	,
TBX18	99.84	,
TCTN2	100.00	,
TCTN3	100.00	,
TFAP2A	100.00	,
THBD	100.00	,
TMEM138	100.00	,
TMEM216	100.00	,
TMEM231	100.00	,
TMEM237	100.00	,
TMEM260	97.92	,
TMEM67	100.00	,
TRAP1	95.57	,
TRIM32	100.00	,
TRIM8	100.00	,
TRPC6	100.00	,
TRPM6	100.00	,
TSC1	100.00	,
TSC2	100.00	,
TTC21B	50.00	,
TTC8	100.00	,
TTR	100.00	,
TULP3	100.00	,
UMOD	100.00	,
UPK3A	100.00	,
VHL	100.00	,
VIPAS39	100.00	,
VPS33B	100.00	,
WBP11	100.00	,
WDPCP	100.00	,
WDR19	100.00	,
WDR35	100.00	,
WDR73	100.00	,
WNK1	100.00	,
WNK4	100.00	,
WNT4	93.15	,
WNT5A	88.79	,
WT1	95.16	,
XDH	100.00	,
XPNPEP3	100.00	,
XPO5	99.80	,
ZIC3	100.00	,
ZMYM2	99.97	,
ZNF423	100.00	,

Primary immune deficiencies (444 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ACD	95.00	0	NM_001082486.1/ interpretable range CS1>95%
ACP5	95.00	0	NM_001111035.2/ interpretable range CS1>95%
ACTB	95.00	0	NM_001101.4/ interpretable range CS1>95%
ADA	95.00	0	NM_000022.3/ interpretable range CS1>95%
ADA2	95.00	1	NM_001282225.1/ interpretable range CS1>95%
ADAM17	95.00	0	NM_003183.6/ interpretable range CS1>95%
ADAR	95.00	0	NM_001111.5/ interpretable range CS1>95%
AICDA	95.00	0	NM_020661.3/ interpretable range CS1>95%
AIRE	95.00	0	NM_000383.3/ interpretable range CS1>95%
AK2	95.00	0	NM_001625.3/ interpretable range CS1>95%
ALPI	95.00	0	NM_001631.4/ interpretable range CS1>95%
AP1S3	95.00	0	NM_001039569.1/ interpretable range CS1>95%
AP3B1	95.00	0	NM_003664.4/ interpretable range CS1>95%
AP3D1	95.00	0	NM_001261826.3/ interpretable range CS1>95%
APOL1	95.00	0	NM_003661.3/ interpretable range CS1>95%
ARPC1B	95.00	0	NM_005720.4/ interpretable range CS1>95%
ATAD3A	95.00	0	NM_001170535.2/ interpretable range CS1>95%
ATG4A	95.00	0	NM_052936.4/ interpretable range CS1>95%
ATM	95.00	0	NM_000051.3/ interpretable range CS1>95%
ATP6AP1	95.00	0	NM_001183.5/ interpretable range CS1>95%
ATP6V0A2	95.00	0	NM_012463.3/ interpretable range CS1>95%
B2M	95.00	0	NM_004048.2/ interpretable range CS1>95%
BACH2	95.00	0	NM_021813.3/ interpretable range CS1>95%
BCL10	95.00	0	NM_003921.5/ interpretable range CS1>95%
BCL11B	95.00	0	NM_138576.3/ interpretable range CS1>95%
BLM	95.00	0	NM_000057.3/ interpretable range CS1>95%
BLNK	95.00	0	NM_013314.3/ interpretable range CS1>95%
BPIFA1	95.00	0	NM_016583.3/ interpretable range CS1>95%
BTK	95.00	0	NM_000061.2/ interpretable range CS1>95%
C1QA	95.00	0	NM_015991.3/ interpretable range CS1>95%
C1QB	95.00	0	NM_000491.4/ interpretable range CS1>95%
C1QC	95.00	0	NM_172369.4/ interpretable range CS1>95%
C1R	95.00	0	NM_001733.6/ interpretable range CS1>95%
C1S	95.00	0	NM_201442.3/ interpretable range CS1>95%
C2	95.00	0	NM_000063.5/ interpretable range CS1>95%
C2orf69	95.00	0	NM_153689.5/ interpretable range CS1>95%
C3	95.00	0	NM_000064.3/ interpretable range CS1>95%
C5	95.00	0	NM_001735.2/ interpretable range CS1>95%
C6	95.00	0	NM_000065.3/ interpretable range CS1>95%
C7	95.00	0	NM_000587.3/ interpretable range CS1>95%
C8A	95.00	0	NM_000562.2/ interpretable range CS1>95%
C8B	95.00	0	NM_000066.3/ interpretable range CS1>95%
C9	95.00	0	NM_001737.4/ interpretable range CS1>95%
CARD11	95.00	0	NM_032415.5/ interpretable range CS1>95%
CARD14	95.00	0	NM_024110.4/ interpretable range CS1>95%
CARD9	95.00	0	NM_052813.4/ interpretable range CS1>95%
CARMIL2	95.00	0	NM_001013838.2/ interpretable range CS1>95%
CASP10	95.00	0	NM_032977.3/ interpretable range CS1>95%
CASP8	95.00	0	NM_001228.4/ interpretable range CS1>95%
CCBE1	95.00	0	NM_133459.4/ interpretable range CS1>95%
CD19	95.00	0	NM_001770.5/ interpretable range CS1>95%
CD247	95.00	0	NM_198053.2/ interpretable range CS1>95%
CD27	95.00	0	NM_001242.4/ interpretable range CS1>95%
CD28	95.00	0	NM_006139.3/ interpretable range CS1>95%
CD3D	95.00	0	NM_000732.4/ interpretable range CS1>95%
CD3E	95.00	0	NM_000733.3/ interpretable range CS1>95%
CD3G	95.00	0	NM_000073.2/ interpretable range CS1>95%
CD4	95.00	0	NM_000616.4/ interpretable range CS1>95%
CD40	95.00	0	NM_001250.5/ interpretable range CS1>95%
CD40LG	95.00	0	NM_000074.2/ interpretable range CS1>95%
CD46	95.00	0	NM_002389.4/ interpretable range CS1>95%
CD48	95.00	0	NM_001778.3/ interpretable range CS1>95%
CD55	95.00	0	NM_000574.4/ interpretable range CS1>95%
CD59	95.00	0	NM_203330.2/ interpretable range CS1>95%
CD70	95.00	0	NM_001252.4/ interpretable range CS1>95%
CD79A	95.00	0	NM_001783.3/ interpretable range CS1>95%
CD79B	95.00	0	NM_000626.3/ interpretable range CS1>95%
CD81	95.00	0	NM_004356.3/ interpretable range CS1>95%
CD8A	95.00	0	NM_001768.6/ interpretable range CS1>95%
CDC42	95.00	0	NM_001791.3/ interpretable range CS1>95%
CDCA7	95.00	0	NM_031942.4/ interpretable range CS1>95%
CDH17	95.00	0	NM_004063.3/ interpretable range CS1>95%
CEBPE	95.00	0	NM_001805.3/ interpretable range CS1>95%
CFB	95.00	0	NM_001710.5/ interpretable range CS1>95%
CFD	95.00	0	NM_001928.3/ interpretable range CS1>95%
CFH	95.00	0	NM_000186.3/ interpretable range CS1>95%
CFHR1	95.00	0	NM_002113.2/ interpretable range CS1>95%
CFHR2	95.00	0	NM_005666.3/ interpretable range CS1>95%
CFHR3	95.00	0	NM_021023.5/ interpretable range CS1>95%
CFHR4	95.00	0	NM_001201550.2/ interpretable range CS1>95%
CFHR5	95.00	0	NM_030787.3/ interpretable range CS1>95%
CFI	95.00	0	NM_000204.4/ interpretable range CS1>95%
CFP	95.00	0	NM_002621.2/ interpretable range CS1>95%
CFTR	95.00	0	NM_000492.3/ interpretable range CS1>95%
CHD7	95.00	0	NM_017780.3/ interpretable range CS1>95%
CHUK	95.00	0	NM_001278.4/ interpretable range CS1>95%
CIB1	95.00	0	NM_006384.3/ interpretable range CS1>95%
CIITA	95.00	0	NM_000246.3/ interpretable range CS1>95%
CLCN7	95.00	0	NM_001287.5/ interpretable range CS1>95%
CLPB	95.00	0	NM_030813.5/ interpretable range CS1>95%
COPA	95.00	0	NM_004371.3/ interpretable range CS1>95%
COPG1	95.00	0	NM_016128.3/ interpretable range CS1>95%
CORO1A	95.00	0	NM_007074.3/ interpretable range CS1>95%
CR2	95.00	0	NM_001006658.2/ interpretable range CS1>95%
CRACR2A	95.00	0	NM_001144958.1/ interpretable range CS1>95%
CSF2RB	95.00	0	NM_000395.2/ interpretable range CS1>95%
CSF3R	95.00	0	NM_000760.3/ interpretable range CS1>95%
CTC1	95.00	0	NM_025099.5/ interpretable range CS1>95%
CTLA4	95.00	0	NM_005214.4/ interpretable range CS1>95%
CTNNBL1	95.00	0	NM_030877.4/ interpretable range CS1>95%
CTPS1	95.00	0	NM_001905.3/ interpretable range CS1>95%
CTSC	95.00	0	NM_001814.5/ interpretable range CS1>95%
CXCR2	95.00	0	NM_001557.3/ interpretable range CS1>95%
CXCR4	95.00	0	NM_003467.2/ interpretable range CS1>95%
CYBA	95.00	0	NM_000101.3/ interpretable range CS1>95%
CYBB	95.00	1	NM_000397.3/ interpretable range CS1>95%
CYBC1	95.00	0	NM_001033046.3/ interpretable range CS1>95%
DBR1	95.00	0	NM_016216.3/ interpretable range CS1>95%
DCLRE1B	95.00	0	NM_022836.3/ interpretable range CS1>95%
DCLRE1C	95.00	0	NM_001033855.2/ interpretable range CS1>95%
DEF6	95.00	0	NM_022047.3/ interpretable range CS1>95%
DGAT1	95.00	0	NM_012079.5/ interpretable range CS1>95%
DIAPH1	95.00	0	NM_005219.4/ interpretable range CS1>95%
DKC1	95.00	0	NM_001363.4/ interpretable range CS1>95%
DNAJC21	95.00	0	NM_001012339.3/ interpretable range CS1>95%
DNASE1	95.00	0	NM_005223.3/ interpretable range CS1>95%
DNASE1L3	95.00	0	NM_004944.3/ interpretable range CS1>95%
DNASE2	95.00	0	NM_001375.2/ interpretable range CS1>95%
DNMT3B	95.00	0	NM_006892.3/ interpretable range CS1>95%
DOCK2	95.00	0	NM_004946.2/ interpretable range CS1>95%
DOCK8	95.00	0	NM_203447.3/ interpretable range CS1>95%
DSG1	95.00	0	NM_001942.3/ interpretable range CS1>95%
DTNBP1	95.00	0	NM_032122.4/ interpretable range CS1>95%
EFL1	95.00	0	NM_024580.5/ interpretable range CS1>95%
ELANE	95.00	0	NM_001972.3/ interpretable range CS1>95%
ELF4	95.00	0	NM_001421.3/ interpretable range CS1>95%
EPG5	95.00	0	NM_020964.2/ interpretable range CS1>95%
ERBIN	95.00	0	NM_001253697.1/ interpretable range CS1>95%
EXTL3	95.00	0	NM_001440.3/ interpretable range CS1>95%
FADD	95.00	0	NM_003824.3/ interpretable range CS1>95%
FAS	95.00	0	NM_000043.5/ interpretable range CS1>95%
FASLG	95.00	0	NM_000639.2/ interpretable range CS1>95%
FAT4	95.00	0	NM_024582.4/ interpretable range CS1>95%
FCGR3A	95.00	0	NM_000569.7/ interpretable range CS1>95%
FCHO1	95.00	0	NM_015122.2/ interpretable range CS1>95%
FCN3	95.00	0	NM_003665.3/ interpretable range CS1>95%
FERMT1	95.00	0	NM_017671.4/ interpretable range CS1>95%
FERMT3	95.00	0	NM_031471.5/ interpretable range CS1>95%
FNIP1	95.00	0	NM_133372.2/ interpretable range CS1>95%
FOXN1	95.00	0	NM_003593.2/ interpretable range CS1>95%
FOXP3	95.00	0	NM_014009.3/ interpretable range CS1>95%
G6PC3	95.00	0	NM_138387.3/ interpretable range CS1>95%
G6PD	95.00	0	NM_001042351.2/ interpretable range CS1>95%
GATA2	95.00	1	NM_032638.4/ interpretable range CS1>95%
GFI1	95.00	0	NM_005263.4/ interpretable range CS1>95%
GIMAP5	95.00	0	NM_018384.4/ interpretable range CS1>95%
GIMAP6	95.00	0	NM_001244072.1/ interpretable range CS1>95%
GINS1	95.00	0	NM_021067.4/ interpretable range CS1>95%
GUCY2C	95.00	0	NM_004963.3/ interpretable range CS1>95%
HAVCR2	95.00	0	NM_032782.4/ interpretable range CS1>95%
HAX1	95.00	0	NM_006118.3/ interpretable range CS1>95%
HCK	95.00	0	NM_002110.3/ interpretable range CS1>95%
HELLS	95.00	0	NM_018063.4/ interpretable range CS1>95%
HTRA2	95.00	0	NM_013247.4/ interpretable range CS1>95%
HYOU1	95.00	0	NM_006389.4/ interpretable range CS1>95%
ICOS	95.00	0	NM_012092.3/ interpretable range CS1>95%
IFIH1	95.00	0	NM_022168.3/ interpretable range CS1>95%
IFNAR1	95.00	0	NM_000629.2/ interpretable range CS1>95%
IFNAR2	95.00	0	NM_207585.2/ interpretable range CS1>95%
IFNG	95.00	0	NM_000619.2/ interpretable range CS1>95%
IFNGR1	95.00	0	NM_000416.2/ interpretable range CS1>95%
IFNGR2	95.00	0	NM_005534.3/ interpretable range CS1>95%
IGLL1	95.00	0	NM_020070.3/ interpretable range CS1>95%
IKBKB	95.00	0	NM_001556.2/ interpretable range CS1>95%
IKBKG	95.00	0	NM_001099857.2/ interpretable range CS1>95%
IKZF1	95.00	0	NM_006060.6/ interpretable range CS1>95%
IKZF2	95.00	0	NM_001079526.1/ interpretable range CS1>95%
IKZF3	95.00	0	NM_012481.4/ interpretable range CS1>95%
IL10	95.00	0	NM_000572.2/ interpretable range CS1>95%
IL10RA	95.00	0	NM_001558.3/ interpretable range CS1>95%
IL10RB	95.00	0	NM_000628.4/ interpretable range CS1>95%
IL12B	95.00	0	NM_002187.2/ interpretable range CS1>95%
IL12RB1	95.00	0	NM_005535.2/ interpretable range CS1>95%
IL12RB2	95.00	0	NM_001559.2/ interpretable range CS1>95%
IL17F	95.00	0	NM_052872.3/ interpretable range CS1>95%
IL17RA	95.00	0	NM_014339.6/ interpretable range CS1>95%
IL17RC	95.00	0	NM_153461.3/ interpretable range CS1>95%
IL18BP	95.00	0	NM_173042.2/ interpretable range CS1>95%
IL1RN	95.00	0	NM_173841.2/ interpretable range CS1>95%
IL21	95.00	0	NM_021803.3/ interpretable range CS1>95%
IL21R	95.00	0	NM_021798.3/ interpretable range CS1>95%
IL23R	95.00	0	NM_144701.2/ interpretable range CS1>95%
IL2RA	95.00	0	NM_000417.2/ interpretable range CS1>95%
IL2RB	95.00	0	NM_000878.4/ interpretable range CS1>95%
IL2RG	95.00	0	NM_000206.2/ interpretable range CS1>95%
IL36RN	95.00	0	NM_012275.2/ interpretable range CS1>95%
IL37	95.00	0	NM_014439.3/ interpretable range CS1>95%
IL6R	95.00	0	NM_000565.3/ interpretable range CS1>95%
IL6ST	95.00	0	NM_002184.3/ interpretable range CS1>95%
IL7	95.00	0	NM_000880.3/ interpretable range CS1>95%
IL7R	95.00	0	NM_002185.4/ interpretable range CS1>95%
INO80	95.00	0	NM_017553.2/ interpretable range CS1>95%
IRAK1	95.00	0	NM_001569.3/ interpretable range CS1>95%
IRAK4	95.00	0	NM_016123.3/ interpretable range CS1>95%
IRF2BP2	95.00	0	NM_182972.2/ interpretable range CS1>95%
IRF3	95.00	0	NM_001571.5/ interpretable range CS1>95%
IRF4	95.00	0	NM_002460.3/ interpretable range CS1>95%
IRF7	95.00	0	NM_004031.2/ interpretable range CS1>95%
IRF8	95.00	0	NM_002163.2/ interpretable range CS1>95%
IRF9	95.00	0	NM_006084.4/ interpretable range CS1>95%
ISG15	95.00	0	NM_005101.3/ interpretable range CS1>95%
ITCH	95.00	0	NM_031483.6/ interpretable range CS1>95%
ITGB2	95.00	0	NM_000211.4/ interpretable range CS1>95%
ITK	95.00	0	NM_005546.3/ interpretable range CS1>95%
ITPKB	95.00	0	NM_002221.3/ interpretable range CS1>95%
ITPKC	95.00	0	NM_025194.2/ interpretable range CS1>95%
ITPR3	95.00	0	NM_002224.3/ interpretable range CS1>95%
JAGN1	95.00	0	NM_032492.3/ interpretable range CS1>95%
JAK1	95.00	0	NM_002227.3/ interpretable range CS1>95%
JAK3	95.00	0	NM_000215.3/ interpretable range CS1>95%
KARS1	95.00	0	NM_001130089.1/ interpretable range CS1>95%
KMT2A	95.00	0	NM_001197104.1/ interpretable range CS1>95%
KMT2D	95.00	0	NM_003482.3/ interpretable range CS1>95%
KPNA2	95.00	0	NM_001320611.1/ interpretable range CS1>95%
KRAS	95.00	0	NM_004985.4/ interpretable range CS1>95%
LACC1	95.00	0	NM_001128303.2/ interpretable range CS1>95%
LAMTOR2	95.00	0	NM_014017.3/ interpretable range CS1>95%
LAT	95.00	0	NM_001014987.1/ interpretable range CS1>95%
LCK	95.00	0	NM_001042771.2/ interpretable range CS1>95%
LCP2	95.00	0	NM_005565.4/ interpretable range CS1>95%
LIG1	95.00	0	NM_000234.2/ interpretable range CS1>95%
LIG4	95.00	0	NM_002312.3/ interpretable range CS1>95%
LPIN2	95.00	0	NM_014646.2/ interpretable range CS1>95%
LRBA	95.00	0	NM_006726.4/ interpretable range CS1>95%
LRRC32	95.00	0	NM_005512.2/ interpretable range CS1>95%
LRRC8A	95.00	0	NM_019594.3/ interpretable range CS1>95%
LSM11	95.00	0	NM_173491.3/ interpretable range CS1>95%
LYST	95.00	0	NM_000081.3/ interpretable range CS1>95%
MAGT1	95.00	0	NM_032121.5/ interpretable range CS1>95%
MALT1	95.00	0	NM_006785.3/ interpretable range CS1>95%
MAN2B2	95.00	0	NM_015274.2/ interpretable range CS1>95%
MAP1LC3B2	95.00	0	NM_001085481.2/ interpretable range CS1>95%
MAP3K14	95.00	0	NM_003954.4/ interpretable range CS1>95%
MAPK8	95.00	0	NM_139049.3/ interpretable range CS1>95%
MASP2	95.00	0	NM_006610.3/ interpretable range CS1>95%
MBL2	95.00	0	NM_000242.2/ interpretable range CS1>95%
MCM10	95.00	0	NM_182751.2/ interpretable range CS1>95%
MCM4	95.00	0	NM_005914.3/ interpretable range CS1>95%
MEFV	95.00	0	NM_000243.2/ interpretable range CS1>95%
MOGS	95.00	0	NM_020831.4/ interpretable range CS1>95%
MPO	95.00	0	NM_006302.2/ interpretable range CS1>95%
MRTFA	95.00	0	NM_000250.1/ interpretable range CS1>95%
MS4A1	95.00	0	NM_152866.2/ interpretable range CS1>95%
MSN	95.00	0	NM_002444.2/ interpretable range CS1>95%
MTHFD1	95.00	0	NM_005956.3/ interpretable range CS1>95%
MVK	95.00	0	NM_000431.3/ interpretable range CS1>95%
MYD88	95.00	0	NM_002468.4/ interpretable range CS1>95%
MYO5B	95.00	0	NM_001080467.2/ interpretable range CS1>95%
MYSM1	95.00	0	NM_001085487.2/ interpretable range CS1>95%
NBAS	95.00	0	NM_015909.3/ interpretable range CS1>95%
NCF1	95.00	0	NM_000265.5/ interpretable range CS1>95%
NCF2	95.00	0	NM_000433.3/ interpretable range CS1>95%
NCF4	95.00	0	NM_013416.3/ interpretable range CS1>95%
NCKAP1	95.00	0	NM_205842.2/ interpretable range CS1>95%
NCKAP1L	95.00	0	NM_005337.4/ interpretable range CS1>95%
NCSTN	95.00	0	NM_015331.2/ interpretable range CS1>95%
NFAT5	95.00	0	NM_138714.3/ interpretable range CS1>95%
NFE2L2	95.00	0	NM_006164.4/ interpretable range CS1>95%
NFKB1	95.00	0	NM_003998.3/ interpretable range CS1>95%
NFKB2	95.00	0	NM_001077494.3/ interpretable range CS1>95%
NFKBIA	95.00	0	NM_020529.2/ interpretable range CS1>95%
NHEJ1	95.00	0	NM_024782.2/ interpretable range CS1>95%
NHP2	95.00	0	NM_017838.3/ interpretable range CS1>95%
NLRC4	95.00	0	NM_021209.4/ interpretable range CS1>95%
NLRP1	95.00	0	NM_033004.3/ interpretable range CS1>95%
NLRP12	95.00	0	NM_144687.3/ interpretable range CS1>95%
NLRP3	95.00	0	NM_004895.4/ interpretable range CS1>95%
NOD2	95.00	0	NM_022162.2/ interpretable range CS1>95%
NOP10	95.00	0	NM_018648.3/ interpretable range CS1>95%
NOS2	95.00	0	NM_000625.4/ interpretable range CS1>95%
NRAS	95.00	0	NM_002524.4/ interpretable range CS1>95%
NSMCE3	95.00	0	NM_138704.3/ interpretable range CS1>95%
OAS1	95.00	0	NM_032790.3/ interpretable range CS1>95%
ORAI1	95.00	0	NM_014028.3/ interpretable range CS1>95%
OSTM1	95.00	0	NM_138348.5/ interpretable range CS1>95%
OTULIN	95.00	0	NM_002582.3/ interpretable range CS1>95%
PARN	95.00	0	NM_006192.4/ interpretable range CS1>95%
PAX1	95.00	0	NM_005018.2/ interpretable range CS1>95%
PDCD1	95.00	0	NM_000285.3/ interpretable range CS1>95%
PEPD	95.00	0	NM_001199917.1/ interpretable range CS1>95%
PGM3	95.00	0	NM_058004.3/ interpretable range CS1>95%
PI4KA	95.00	0	NM_005026.4/ interpretable range CS1>95%
PIK3CD	95.00	0	NM_002649.3/ interpretable range CS1>95%
PIK3CG	95.00	0	NM_181523.2/ interpretable range CS1>95%
PIK3R1	95.00	0	NM_002661.4/ interpretable range CS1>95%
PLCG2	95.00	0	NM_014798.2/ interpretable range CS1>95%
PLEKHM1	95.00	0	NM_000535.6/ interpretable range CS1>95%
PMS2	95.00	0	NM_016937.3/ interpretable range CS1>95%
PNP	95.00	0	NM_002691.3/ interpretable range CS1>95%
POLA1	95.00	0	NM_006230.3/ interpretable range CS1>95%
POLD1	95.00	0	NM_006231.3/ interpretable range CS1>95%
POLD2	95.00	0	NM_002692.3/ interpretable range CS1>95%
POLE	95.00	0	NM_007055.3/ interpretable range CS1>95%
POLE2	95.00	0	NM_001303456.1/ interpretable range CS1>95%
POLR3A	95.00	0	NM_001282526.1/ interpretable range CS1>95%
POLR3C	95.00	0	NM_015932.5/ interpretable range CS1>95%
POLR3E	95.00	0	NM_006235.2/ interpretable range CS1>95%
POLR3F	95.00	0	NM_001083116.2/ interpretable range CS1>95%
POMP	95.00	0	NM_015932.6/ interpretable range CS1>95%
POU2AF1	95.00	0	NM_006254.3/ interpretable range CS1>95%
PRF1	95.00	0	NM_006904.6/ interpretable range CS1>95%
PRKCD	95.00	0	NM_172341.3/ interpretable range CS1>95%
PRKDC	95.00	0	NM_002788.3/ interpretable range CS1>95%
PSENEN	95.00	0	NM_002801.3/ interpretable range CS1>95%
PSMA3	95.00	0	NM_002796.2/ interpretable range CS1>95%
PSMB10	95.00	0	NM_148919.3/ interpretable range CS1>95%
PSMB4	95.00	0	NM_002800.4/ interpretable range CS1>95%
PSMB8	95.00	0	NM_147163.1/ interpretable range CS1>95%
PSMB9	95.00	0	NM_003978.4/ interpretable range CS1>95%
PSMG2	95.00	0	NM_000314.6/ interpretable range CS1>95%
PSTPIP1	95.00	0	NM_002828.3/ interpretable range CS1>95%
PTEN	95.00	0	NM_002838.4/ interpretable range CS1>95%
PTPN2	95.00	0	NM_004580.4/ interpretable range CS1>95%
PTPRC	95.00	0	NM_002872.4/ interpretable range CS1>95%
RAB27A	95.00	0	NM_000448.2/ interpretable range CS1>95%
RAC2	95.00	0	NM_000536.3/ interpretable range CS1>95%
RAG1	95.00	0	NM_006267.4/ interpretable range CS1>95%
RAG2	95.00	0	NM_005739.3/ interpretable range CS1>95%
RANBP2	95.00	0	NM_031229.3/ interpretable range CS1>95%
RASGRP1	95.00	0	NM_172071.3/ interpretable range CS1>95%
RBCK1	95.00	0	NM_004260.3/ interpretable range CS1>95%
RC3H1	95.00	0	NM_002908.3/ interpretable range CS1>95%
RECQL4	95.00	0	NM_021975.3/ interpretable range CS1>95%
REL	95.00	0	NM_006509.3/ interpretable range CS1>95%
RELA	95.00	0	NM_000449.3/ interpretable range CS1>95%
RELB	95.00	0	NM_003721.3/ interpretable range CS1>95%
RFX5	95.00	0	NM_000538.3/ interpretable range CS1>95%
RFXANK	95.00	0	NM_001665.3/ interpretable range CS1>95%
RFXAP	95.00	0	NM_004310.4/ interpretable range CS1>95%
RHOG	95.00	0	NM_003804.5/ interpretable range CS1>95%
RHOH	95.00	0	NM_006397.2/ interpretable range CS1>95%
RIGI	95.00	0	NM_014314.4/ interpretable range CS1>95%
RIPK1	95.00	0	NM_024570.3/ interpretable range CS1>95%
RNASEH2A	95.00	0	NM_032193.3/ interpretable range CS1>95%
RNASEH2B	95.00	0	NM_152617.3/ interpretable range CS1>95%
RNASEH2C	95.00	0	NM_017999.4/ interpretable range CS1>95%
RNF168	95.00	0	NM_005060.3/ interpretable range CS1>95%
RNF31	95.00	0	NM_002945.4/ interpretable range CS1>95%
RORC	95.00	0	NM_002295.5/ interpretable range CS1>95%
RPA1	95.00	0	NM_002945.5/ interpretable range CS1>95%
RPSA	95.00	0	NM_032957.4/ interpretable range CS1>95%
RTEL1	95.00	0	NM_017654.3/ interpretable range CS1>95%
SAMD9	95.00	0	NM_152703.4/ interpretable range CS1>95%
SAMD9L	95.00	0	NM_015474.3/ interpretable range CS1>95%
SAMHD1	95.00	0	NM_018990.3/ interpretable range CS1>95%
SASH3	95.00	0	NM_016038.3/ interpretable range CS1>95%
SBDS	95.00	0	NM_013336.3/ interpretable range CS1>95%
SEC61A1	95.00	0	NM_006378.3/ interpretable range CS1>95%
SEMA4D	95.00	0	NM_000062.2/ interpretable range CS1>95%
SERPING1	95.00	1	NM_002351.4/ interpretable range CS1>95%
SH2D1A	95.00	0	NM_031892.2/ interpretable range CS1>95%
SH3KBP1	95.00	0	NM_006929.4/ interpretable range CS1>95%
SKIC2	95.00	0	NM_006929.5/ interpretable range CS1>95%
SKIC3	95.00	0	NM_014639.4/ interpretable range CS1>95%
SLC11A1	95.00	0	NM_018344.5/ interpretable range CS1>95%
SLC29A3	95.00	0	NM_018389.4/ interpretable range CS1>95%
SLC35C1	95.00	0	NM_001164277.1/ interpretable range CS1>95%
SLC37A4	95.00	0	NM_006979.2/ interpretable range CS1>95%
SLC39A7	95.00	0	NM_080669.5/ interpretable range CS1>95%
SLC46A1	95.00	0	NM_001126106.2/ interpretable range CS1>95%
SLC7A7	95.00	0	NM_014140.3/ interpretable range CS1>95%
SMARCAL1	95.00	0	NM_001098426.1/ interpretable range CS1>95%
SMARCD2	95.00	0	NR_002967.1/ interpretable range CS1>95%
SNORA31	95.00	0	NM_001199835.1/ interpretable range CS1>95%
SNX10	95.00	0	NM_003745.1/ interpretable range CS1>95%
SOCS1	95.00	0	NM_004509.3/ interpretable range CS1>95%
SP110	95.00	0	NM_004509.5/ interpretable range CS1>95%
SPI1	95.00	0	NM_001080547.1/ interpretable range CS1>95%
SPINK5	95.00	0	NM_006846.3/ interpretable range CS1>95%
SPPL2A	95.00	0	NM_032802.3/ interpretable range CS1>95%
SRP54	95.00	0	NM_003136.3/ interpretable range CS1>95%
STAT1	95.00	0	NM_007315.3/ interpretable range CS1>95%
STAT2	95.00	0	NM_005419.3/ interpretable range CS1>95%
STAT3	95.00	0	NM_139276.2/ interpretable range CS1>95%
STAT4	95.00	0	NM_003151.3/ interpretable range CS1>95%
STAT5B	95.00	0	NM_012448.3/ interpretable range CS1>95%
STIM1	95.00	0	NM_003156.3/ interpretable range CS1>95%
STING1	95.00	0	NM_006282.4/ interpretable range CS1>95%
STK4	95.00	0	NM_024928.4/ interpretable range CS1>95%
STN1	95.00	0	NM_003764.3/ interpretable range CS1>95%
STX11	95.00	0	NM_006949.3/ interpretable range CS1>95%
STXBP2	95.00	0	NM_007269.3/ interpretable range CS1>95%
STXBP3	95.00	0	NM_003177.6/ interpretable range CS1>95%
SYK	95.00	0	NM_000593.5/ interpretable range CS1>95%
TAFAZZIN	95.00	0	NM_000116.5/ interpretable range CS1>95%
TAP1	95.00	0	NM_001290043.1/ interpretable range CS1>95%
TAP2	95.00	0	NM_003190.4/ interpretable range CS1>95%
TAPBP	95.00	0	NM_000116.4/ interpretable range CS1>95%
TBK1	95.00	0	NM_013254.3/ interpretable range CS1>95%
TBX1	95.00	0	NM_080647.1/ interpretable range CS1>95%
TBX21	95.00	0	NM_013351.1/ interpretable range CS1>95%
TCF3	95.00	0	NM_003200.4/ interpretable range CS1>95%
TCIRG1	95.00	0	NM_006019.3/ interpretable range CS1>95%
TCN2	95.00	0	NM_000355.3/ interpretable range CS1>95%
TERT	95.00	0	NM_198253.2/ interpretable range CS1>95%
TET2	95.00	0	NM_001127208.2/ interpretable range CS1>95%
TFRC	95.00	0	NM_003234.3/ interpretable range CS1>95%
TGFB1	95.00	0	NM_000660.6/ interpretable range CS1>95%
TGFBR1	95.00	0	NM_004612.3/ interpretable range CS1>95%
TGFBR2	95.00	0	NM_003242.5/ interpretable range CS1>95%
THBD	95.00	0	NM_000361.2/ interpretable range CS1>95%
TICAM1	95.00	0	NM_182919.3/ interpretable range CS1>95%
TINF2	95.00	0	NM_001099274.1/ interpretable range CS1>95%
TLR3	95.00	0	NM_003265.2/ interpretable range CS1>95%
TLR7	95.00	0	NM_016562.3/ interpretable range CS1>95%
TLR8	95.00	0	NM_138636.5/ interpretable range CS1>95%
TMC6	95.00	0	NM_007267.7/ interpretable range CS1>95%
TMC8	95.00	0	NM_152468.4/ interpretable range CS1>95%
TNFAIP3	95.00	0	NM_198282.3/ interpretable range CS1>95%
TNFRSF11A	95.00	0	NM_006290.3/ interpretable range CS1>95%
TNFRSF13B	95.00	0	NM_003839.3/ interpretable range CS1>95%
TNFRSF13C	95.00	0	NM_012452.2/ interpretable range CS1>95%
TNFRSF1A	95.00	0	NM_052945.3/ interpretable range CS1>95%
TNFRSF4	95.00	0	NM_001065.3/ interpretable range CS1>95%
TNFRSF9	95.00	0	NM_003327.3/ interpretable range CS1>95%
TNFSF11	95.00	0	NM_001561.5/ interpretable range CS1>95%
TNFSF12	95.00	0	NM_003701.3/ interpretable range CS1>95%
TNFSF13	95.00	0	NM_003809.2/ interpretable range CS1>95%
TOP2B	95.00	0	NM_003808.3/ interpretable range CS1>95%
TPP2	95.00	0	NM_001068.3/ interpretable range CS1>95%
TRAF3	95.00	0	NM_003291.3/ interpretable range CS1>95%
TRAF3IP2	95.00	0	NM_003300.3/ interpretable range CS1>95%
TREX1	95.00	0	NM_147686.3/ interpretable range CS1>95%
TRIM22	95.00	0	NM_033629.5/ interpretable range CS1>95%
TRNT1	95.00	0	NM_006074.4/ interpretable range CS1>95%
TTC7A	95.00	0	NM_014639.3/ interpretable range CS1>95%
TYK2	95.00	0	NM_020458.3/ interpretable range CS1>95%
UBA1	95.00	0	NM_003331.4/ interpretable range CS1>95%
UNC13D	95.00	0	NM_003334.3/ interpretable range CS1>95%
UNC93B1	95.00	0	NM_199242.2/ interpretable range CS1>95%
UNG	95.00	0	NM_030930.3/ interpretable range CS1>95%
USB1	95.00	0	NM_080911.2/ interpretable range CS1>95%
USP18	95.00	0	NM_024598.3/ interpretable range CS1>95%
VPS13B	95.00	0	NM_017414.3/ interpretable range CS1>95%
VPS45	95.00	0	NM_017890.4/ interpretable range CS1>95%
WAS	95.00	0	NM_007259.5/ interpretable range CS1>95%
WDR1	95.00	0	NM_000377.2/ interpretable range CS1>95%
WIPF1	95.00	0	NM_017491.4/ interpretable range CS1>95%
WRAP53	95.00	0	NM_001077269.1/ interpretable range CS1>95%
XIAP	95.00	1	NM_001167.3/ interpretable range CS1>95%
ZAP70	95.00	0	NM_001079.3/ interpretable range CS1>95%
ZBTB24	95.00	0	NM_014797.2/ interpretable range CS1>95%
ZNF341	95.00	0	NM_032819.4/ interpretable range CS1>95%
ZNFX1	95.00	0	NM_021035.2/ interpretable range CS1>95%

Primary immune deficiencies - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ACD	100.00	1
ACP5	100.00	1
ACTB	100.00	1
ADA	99.97	1
ADA2	100.00	1
ADAM17	99.94	1
ADAR	99.84	1
AICDA	99.94	1
AIRE	99.95	1
AK2	99.39	1
ALPI	100.00	1
AP1S3	100.00	1
AP3B1	99.89	1
AP3D1	100.00	1
APOL1	99.99	1
ARHGEF1	99.97	1
ARPC1B	99.92	1
ATG16L1	99.95	1
ATG4A	99.86	1
ATM	99.83	1
ATP2A2	99.98	1
ATP6AP1	100.00	1
B2M	100.00	1
BACH2	99.99	1
BCL10	99.74	1
BCL11B	100.00	1
BLK	99.98	1
BLM	99.80	1
BLNK	99.90	1
BLOC1S3	100.00	1
BLOC1S6	99.98	1
BTK	99.88	1
C1QA	99.99	1
C1QB	99.58	1
C1QC	99.97	1
C1R	99.99	1
C1S	99.98	1
C2	99.99	1
C2orf69	99.97	1
C3	100.00	1
C4A	21.28	1
C4BPA	99.95	1
C5	99.92	1
C6	99.97	1
C7	99.94	1
C8A	99.95	1
C8B	99.37	1
C8G	99.99	1
C9	99.89	1
CARD11	99.97	1
CARD14	99.99	1
CARD9	100.00	1
CARMIL2	99.99	1
CASP10	99.85	1
CASP8	99.92	1
CBL	99.95	1
CCBE1	99.52	1
CCDC28B	99.99	1
CD19	99.98	1
CD247	99.79	1
CD27	99.95	1
CD3D	100.00	1
CD3E	100.00	1
CD3G	100.00	1
CD4	100.00	1
CD40	100.00	1
CD40LG	99.88	1
CD46	99.86	1
CD55	74.12	1
CD59	100.00	1
CD70	99.99	1
CD79A	99.97	1
CD79B	99.93	1
CD81	99.97	1
CD8A	99.97	1
CDC42	98.05	1
CDCA7	99.88	1
CEBPE	100.00	1
CFB	99.97	1
CFD	99.99	1
CFH	99.12	1
CFHR1	84.44	1
CFHR2	90.26	1
CFHR3	91.62	1
CFHR4	99.86	1
CFHR5	99.68	1
CFI	99.87	1
CFP	99.96	1
CFTR	99.45	1
CHD7	99.99	1
CIB1	99.92	1
CIITA	99.99	1
CLCN7	99.99	1
CLEC7A	99.98	1
CLPB	99.97	1
COL7A1	99.99	1
COPA	99.61	1
CORO1A	91.71	1
CPT2	99.65	1
CR2	99.97	1
CREBBP	99.97	1
CSF2RA	93.86	1
CSF2RB	100.00	1
CSF3R	99.97	1
CTC1	100.00	1
CTLA4	99.99	1
CTNNBL1	100.00	1
CTPS1	98.63	1
CTSC	99.97	1
CXCR4	99.98	1
CYBA	99.96	1
CYBB	99.87	1
CYBC1	100.00	1
DBR1	99.92	1
DCLRE1B	99.91	1
DCLRE1C	99.79	1
RIGI	99.84	1
DEF6	100.00	1
DGKE	99.10	1
DHFR	98.89	1
DKC1	99.59	1
DNAJC21	99.67	1
DNASE1	100.00	1
DNASE1L3	99.90	1
DNASE2	100.00	1
DNMT3B	99.98	1
DOCK2	100.00	1
DOCK8	99.86	1
DOK3	99.95	1
DTNBP1	99.89	1
EFL1	99.83	1
ELANE	100.00	1
ELF4	99.97	1
EPG5	99.95	1
ERBIN	99.69	1
ERCC6L2	99.94	1
EXTL3	99.99	1
F12	99.99	1
FAAP24	99.95	1
FADD	99.97	1
FAS	99.99	1
FASLG	99.84	1
FAT4	99.98	1
FCGR2B	70.97	1
FCGR3A	99.93	1
FCGR3B	95.51	1
FCHO1	99.99	1
FCN3	99.48	1
FERMT1	99.90	1
FERMT3	99.99	1
FNIP1	99.87	1
FOXN1	99.97	1
FOXP3	99.93	1
FPR1	100.00	1
G6PC3	99.98	1
G6PD	99.97	1
GATA1	99.97	1
GATA2	99.99	1
GFI1	99.88	1
GIMAP5	100.00	1
GINS1	99.99	1
GUCY2C	99.90	1
HAVCR2	99.93	1
HAX1	100.00	1
HELLS	99.78	1
HMOX1	99.95	1
HPS1	100.00	1
HPS4	99.98	1
HPS6	100.00	1
HTRA2	99.99	1
HYOU1	99.97	1
ICOS	99.95	1
ICOSLG	5.95	1
IFIH1	99.84	1
IFNAR1	99.75	1
IFNAR2	89.62	1
IFNG	99.50	1
IFNGR1	99.87	1
IFNGR2	99.95	1
IGHM	100.00	1
IGKC	99.99	1
IGLL1	100.00	1
IKBKB	99.93	1
IKBKG	57.34	1
IKZF1	99.92	1
IL10	100.00	1
IL10RA	99.99	1
IL10RB	99.99	1
IL12B	99.98	1
IL12RB1	94.11	1
IL12RB2	97.66	1
IL15RA	99.96	1
IL17F	99.99	1
IL17RA	100.00	1
IL17RC	100.00	1
IL18	99.85	1
IL18BP	99.99	1
IL1RL1	99.76	1
IL1RN	99.64	1
IL21	99.95	1
IL21R	99.70	1
IL23R	97.64	1
IL2RA	99.99	1
IL2RB	100.00	1
IL2RG	99.86	1
IL36RN	100.00	1
IL6R	92.46	1
IL6ST	99.88	1
IL7R	99.99	1
ILRUN	100.00	1
INO80	99.96	1
IRAK1	99.98	1
IRAK4	98.85	1
IRF2BP2	100.00	1
IRF3	99.96	1
IRF4	99.99	1
IRF7	100.00	1
IRF8	99.99	1
IRF9	100.00	1
ISG15	100.00	1
ITCH	95.57	1
ITGB2	100.00	1
ITK	99.91	1
ITPKB	99.99	1
IVNS1ABP	99.24	1
JAGN1	100.00	1
JAK1	99.32	1
JAK3	99.99	1
KDM6A	99.74	1
KMT2A	99.97	1
KMT2D	99.98	1
KRAS	99.13	1
LACC1	99.99	1
LAMTOR2	99.92	1
LAT	99.85	1
LCK	99.56	1
LCP2	99.58	1
LIG1	99.93	1
LIG4	100.00	1
LIPA	99.96	1
LPIN2	100.00	1
LRBA	99.76	1
LRRC8A	100.00	1
LSM11	100.00	1
LYST	99.87	1
MAGT1	99.54	1
MALT1	99.71	1
MAN2B1	99.99	1
MAP1LC3B2	100.00	1
MAP3K14	99.98	1
MAPK8	99.64	1
MASP1	99.99	1
MASP2	99.95	1
MBL2	99.93	1
MCM10	99.99	1
MCM4	99.96	1
MEFV	100.00	1
MOGS	100.00	1
MPEG1	100.00	1
MPO	99.97	1
MRE11	99.93	1
MRTFA	92.99	1
MS4A1	99.60	1
MSH6	99.97	1
MSN	99.98	1
MTHFD1	100.00	1
MVK	99.97	1
MYD88	99.99	1
MYO5B	100.00	1
MYSM1	94.16	1
NBAS	99.86	1
NBN	99.93	1
NCF1	57.22	1
NCF2	99.85	1
NCF4	100.00	1
NCKAP1L	99.77	1
NCSTN	99.82	1
NFAT5	99.93	1
NFE2L2	99.97	1
NFKB1	99.80	1
NFKB2	99.98	1
NFKBIA	99.99	1
NHEJ1	99.91	1
NHP2	99.96	1
NKX2-5	99.75	1
NLRC4	99.95	1
NLRP1	95.26	1
NLRP12	99.99	1
NLRP3	100.00	1
NLRP7	99.99	1
NOD2	99.98	1
NOP10	99.99	1
NOS2	96.11	1
NPC1	99.99	1
NRAS	99.66	1
NSMCE3	100.00	1
OAS1	99.96	1
ORAI1	99.63	1
OSTM1	99.56	1
OTULIN	99.95	1
PARN	99.75	1
PAX1	100.00	1
PCCA	99.90	1
PCCB	99.97	1
PEPD	99.98	1
PGM3	99.94	1
PIK3CD	99.99	1
PIK3CG	99.72	1
PIK3R1	99.86	1
PLCG2	99.99	1
PLEKHM1	99.77	1
PLG	99.89	1
PMS2	70.47	1
PNP	100.00	1
POLA1	99.57	1
POLD1	99.96	1
POLD2	99.95	1
POLE	99.99	1
POLE2	99.87	1
POLR3A	99.97	1
POLR3C	99.89	1
POLR3F	99.97	1
NT5C3A	99.95	1
PRF1	100.00	1
PRIM1	99.07	1
PRKCD	99.96	1
PRKDC	99.93	1
PSEN1	100.00	1
PSENEN	100.00	1
PSMA3	99.96	1
PSMB10	99.98	1
PSMB4	99.83	1
PSMB8	99.96	1
PSMB9	99.68	1
PSMG2	99.98	1
PSTPIP1	99.91	1
PSTPIP2	99.98	1
PTEN	99.89	1
PTPN11	99.98	1
PTPN2	99.98	1
PTPN6	100.00	1
PTPRC	93.90	1
RAB27A	99.94	1
RAC2	99.99	1
RAG1	100.00	1
RAG2	100.00	1
RANBP2	99.37	1
RASGRP1	100.00	1
RBCK1	100.00	1
RC3H1	99.22	1
RECQL4	100.00	1
REL	96.99	1
RELA	99.99	1
RELB	99.97	1
RFX5	99.88	1
RFXANK	100.00	1
RFXAP	99.98	1
RHOH	99.99	1
RIPK1	99.93	1
RMRP	100.00	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNF168	99.97	1
RNF31	100.00	1
RORC	99.42	1
RPSA	0.00	1
RTEL1	100.00	1
SAMD9	99.93	1
SAMD9L	99.95	1
SAMHD1	99.98	1
SASH3	99.99	1
SBDS	99.93	1
SDHA	99.98	1
SEC61A1	99.99	1
SEMA3E	99.13	1
SERPING1	100.00	1
SGPL1	99.95	1
SH2D1A	98.98	1
SH3BP2	100.00	1
SH3KBP1	99.95	1
SKIC2	99.98	1
SLC11A1	99.99	1
SLC29A3	99.98	1
SLC35C1	100.00	1
SLC37A4	99.90	1
SLC39A7	100.00	1
SLC46A1	100.00	1
SLC7A7	99.99	1
SLC9A3	100.00	1
SMARCAL1	99.97	1
SMARCD2	99.99	1
SNX10	99.96	1
SOCS1	99.98	1
SOCS4	99.92	1
PMP22	99.99	1
SPI1	99.81	1
SPINK5	99.91	1
SPPL2A	99.88	1
SRP54	99.83	1
SRP72	99.91	1
STAT1	99.83	1
STAT2	99.89	1
STAT3	99.97	1
STAT4	99.77	1
STAT5B	99.50	1
STAT6	99.87	1
STIM1	99.99	1
STING1	99.87	1
STK4	99.91	1
STN1	99.88	1
STX11	100.00	1
STXBP2	100.00	1
STXBP3	85.74	1
SYK	99.96	1
TAFAZZIN	99.98	1
TAP1	99.97	1
TAP2	99.94	1
TAPBP	99.98	1
TBK1	99.07	1
TBX1	99.95	1
TBX21	99.99	1
TCF3	100.00	1
TCIRG1	99.99	1
TCN2	100.00	1
TERC	98.59	1
TERT	100.00	1
TET2	99.99	1
TFRC	99.87	1
TGFB1	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
THBD	100.00	1
TICAM1	99.99	1
TINF2	100.00	1
TIRAP	100.00	1
TLR3	99.99	1
TLR4	99.99	1
TLR7	99.98	1
TMC6	100.00	1
TMC8	99.92	1
TNFAIP3	99.94	1
TNFRSF11A	100.00	1
TNFRSF13B	99.43	1
TNFRSF13C	99.99	1
TNFRSF1A	100.00	1
TNFRSF4	100.00	1
TNFRSF9	99.99	1
TNFSF11	99.89	1
TNFSF12	100.00	1
TNFSF13	100.00	1
TOP2B	99.72	1
TPP2	99.89	1
TRAC	100.00	1
TRAF3	99.97	1
TRAF3IP2	100.00	1
TREX1	100.00	1
TRIM22	100.00	1
TRNT1	99.97	1
SKIC3	99.82	1
TTC7A	99.77	1
TYK2	99.99	1
UBA1	99.93	1
UNC119	100.00	1
UNC13D	100.00	1
UNC93B1	99.75	1
UNG	100.00	1
USB1	89.62	1
USP18	93.05	1
VAV1	99.99	1
VPS13B	99.90	1
VPS45	93.94	1
WAS	99.90	1
WDR1	99.99	1
WIPF1	99.87	1
WRAP53	100.00	1
XBP1	99.99	1
XIAP	99.36	1
ZAP70	99.95	1
ZBTB24	99.99	1
ZNF341	100.00	1
ZNFX1	99.99	1

Retinal dystrophy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCA4	99.30	1
ABCC6	98.57	1
ABHD12	99.98	1
ACBD5	99.97	1
ACO2	99.99	1
ADAM9	99.89	1
ADAMTS18	99.99	1
ADGRA3	99.90	1
ADGRV1	99.80	1
ADIPOR1	99.83	1
AFG3L2	99.97	1
AGBL5	99.98	1
AHI1	99.86	1
AHR	99.79	1
AIPL1	100.00	1
ALMS1	99.90	1
ARHGEF18	99.97	1
ARL2BP	99.89	1
ARL3	99.98	1
ARL6	99.90	1
ARMS2	100.00	1
ARSG	100.00	1
ASRGL1	99.84	1
ATF6	98.19	1
ATXN7	99.98	1
BBIP1	99.99	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
BEST1	99.86	1
MFRP	100.00	1
C2	99.99	1
C3	100.00	1
CA4	100.00	1
CABP4	100.00	1
CACNA1F	99.94	1
CACNA2D4	99.99	1
CAPN5	99.88	1
CC2D2A	99.95	1
CCT2	98.46	1
CDH23	99.95	1
CDH3	99.98	1
CDHR1	99.72	1
CEP164	99.99	1
CEP19	99.99	1
CEP250	99.93	1
CEP290	98.10	1
CEP78	99.95	1
CERKL	99.91	1
CFAP410	100.00	1
CFAP418	100.00	1
CFB	99.97	1
CFH	99.12	1
CHM	96.46	1
CIB2	100.00	1
CLCC1	93.17	1
CLN3	99.92	1
CLRN1	99.99	1
CLUAP1	99.95	1
CNGA1	99.60	1
CNGA3	99.95	1
CNGB1	97.53	1
CNGB3	99.96	1
CNNM4	99.93	1
COL11A1	90.72	1
COL2A1	99.87	1
COL9A1	99.91	1
CRB1	99.73	1
CRX	99.96	1
CSPP1	98.31	1
CTNNA1	99.98	1
CWC27	99.67	1
CYP4V2	99.98	1
DHDDS	98.65	1
DHX38	99.97	1
DMD	99.76	1
DRAM2	96.06	1
DTHD1	99.92	1
DYNC2H1	99.66	1
EFEMP1	99.68	1
ELOVL1	100.00	1
ELOVL4	99.91	1
EMC1	99.85	1
ERCC6	99.60	1
ESPN	100.00	1
EXOSC2	100.00	1
EYS	99.86	1
FAM161A	99.77	1
FBLN5	100.00	1
FBN2	99.90	1
FLVCR1	99.91	1
FSCN2	100.00	1
FZD4	100.00	1
GDF6	100.00	1
GNAT1	100.00	1
GNAT2	99.87	1
GNB3	100.00	1
GNPTG	100.00	1
GPR179	99.99	1
GRID2	99.97	1
GRK1	99.99	1
GRM6	100.00	1
GUCA1A	100.00	1
GUCA1B	99.99	1
GUCY2D	100.00	1
HARS1	99.96	1
HGSNAT	99.93	1
HK1	99.97	1
HMCN1	99.44	1
HMX1	100.00	1
HTRA1	100.00	1
IDH3A	99.98	1
IDH3B	100.00	1
IFT140	100.00	1
IFT172	99.98	1
IFT27	100.00	1
IFT43	99.97	1
IFT81	94.64	1
IFT88	98.26	1
IMPDH1	92.77	1
IMPG1	99.93	1
IMPG2	99.97	1
INPP5E	99.85	1
INVS	99.94	1
IQCB1	99.72	1
ITM2B	99.85	1
JAG1	100.00	1
KCNJ13	99.99	1
KCNV2	99.97	1
KIAA1549	99.98	1
KIF11	99.84	1
KIF3B	99.99	1
KIZ	99.98	1
KLHL7	99.95	1
LAMA1	99.98	1
LAMB2	99.99	1
LCA5	99.89	1
LRAT	100.00	1
LRIT3	100.00	1
LRP5	99.95	1
LZTFL1	100.00	1
MAK	99.47	1
MAPKAPK3	99.97	1
MERTK	98.90	1
MFN2	99.98	1
MFSD8	99.70	1
MIR204	100.00	1
MKKS	100.00	1
MKS1	99.92	1
MTRFR	99.87	1
MTTP	99.92	1
MVK	99.97	1
MYO7A	99.96	1
NBAS	99.86	1
NDP	99.98	1
NEK2	95.09	1
NEUROD1	100.00	1
NMNAT1	99.93	1
NPHP1	99.05	1
NPHP3	99.89	1
NPHP4	99.98	1
NR2E3	100.00	1
NR2F1	99.99	1
NRL	100.00	1
NYX	100.00	1
OAT	90.17	1
OFD1	99.68	1
MED12	99.95	1
OPA3	100.00	1
OPN1LW	71.75	1
OPN1MW	30.23	1
OPN1SW	99.97	1
OTX2	100.00	1
PANK2	99.99	1
PAX2	99.99	1
PCARE	100.00	1
PCDH15	99.71	1
PCYT1A	100.00	1
PDE6A	99.98	1
PDE6B	100.00	1
PDE6C	99.91	1
PDE6G	100.00	1
PDE6H	99.97	1
PDZD7	98.09	1
PEX1	98.80	1
PEX2	100.00	1
PEX6	99.99	1
PEX7	99.72	1
PGK1	99.93	1
PHYH	100.00	1
PITPNM3	99.98	1
PLA2G5	99.91	1
PLK4	99.89	1
PNPLA6	99.99	1
POC1B	100.00	1
POC5	99.85	1
POMGNT1	99.69	1
PRCD	100.00	1
PRDM13	99.99	1
PROM1	99.97	1
PRPF3	99.73	1
PRPF31	99.99	1
PRPF4	99.96	1
PRPF6	99.98	1
PRPF8	99.98	1
PRPH2	99.98	1
PRPS1	99.95	1
RAB28	99.97	1
RAX2	100.00	1
RB1	99.84	1
RBP3	99.99	1
RBP4	99.99	1
RCBTB1	99.99	1
RD3	100.00	1
RDH11	99.99	1
RDH12	99.98	1
RDH5	100.00	1
REEP6	100.00	1
RGR	99.79	1
RGS9BP	100.00	1
RHO	100.00	1
RIMS1	99.85	1
RIMS2	99.97	1
RLBP1	99.99	1
ROM1	100.00	1
MAPRE2	99.98	1
RP1L1	100.00	1
RP2	99.58	1
RP9	99.83	1
RPE65	98.99	1
RPGR	94.45	1
RPGRIP1	99.95	1
RPGRIP1L	96.35	1
RS1	99.92	1
RTN4IP1	99.98	1
SAG	99.98	1
SAMD11	100.00	1
SAMD7	99.99	1
SCAPER	99.75	1
SCLT1	95.17	1
SDCCAG8	100.00	1
SEMA4A	99.81	1
SF3B2	99.98	1
SLC24A1	99.92	1
SLC25A46	99.88	1
SLC6A6	99.98	1
SLC7A14	99.99	1
SNRNP200	99.60	1
SPATA7	99.80	1
GPKOW	100.00	1
TEAD1	99.97	1
TIMM8A	100.00	1
TIMP3	100.00	1
TLR3	99.99	1
TLR4	99.99	1
TMEM126A	99.88	1
TMEM216	99.98	1
TMEM237	99.30	1
TOPORS	99.99	1
TREX1	100.00	1
TRIM32	100.00	1
TRNT1	99.97	1
TRPM1	99.96	1
TSPAN12	99.89	1
TTC8	99.67	1
TTLL5	99.95	1
TTPA	99.88	1
TUB	100.00	1
TUBGCP4	99.80	1
TUBGCP6	100.00	1
TULP1	99.99	1
UNC119	100.00	1
USH1C	99.99	1
USH1G	100.00	1
USH2A	99.88	1
VCAN	99.99	1
WDPCP	99.87	1
WDR19	99.80	1
WFS1	99.99	1
WHRN	99.96	1
ZNF408	99.99	1
ZNF423	98.94	1
ZNF513	99.97	1

cardiopathy panel - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCC9	99.92	1
ACADVL	100.00	1
ACTA2	99.99	1
ACTC1	98.57	1
ACTN2	99.99	1
AGL	97.67	1
AKAP10	99.85	1
AKAP9	99.27	1
ALG10	100.00	1
ANK2	99.98	1
ANKRD1	99.57	1
ATP5F1E	100.00	1
BAG3	100.00	1
BRAF	99.78	1
CACNA1C	100.00	1
CACNA2D1	97.12	1
CACNB2	99.93	1
CALM1	99.86	1
CALM2	99.62	1
CALR3	99.91	1
CASQ2	94.39	1
CAV3	100.00	1
CBL	99.95	1
CFC1	21.93	1
CITED2	100.00	1
COA5	98.65	1
CRELD1	99.99	1
CRYAB	100.00	1
CSRP3	100.00	1
CTF1	100.00	1
CTNNA1	99.98	1
CTNNA3	99.96	1
DCHS1	100.00	1
DES	100.00	1
DMD	99.76	1
DMPK	99.93	1
DNM1L	99.40	1
DOLK	100.00	1
DPP6	99.99	1
DSC3	99.73	1
DSG2	99.96	1
DSP	100.00	1
DTNA	100.00	1
ELN	99.86	1
EMD	99.93	1
EYA4	99.96	1
FBN1	99.85	1
FBXO32	99.99	1
CFH	99.97	1
FHL2	100.00	1
FKRP	100.00	1
FKTN	99.94	1
FLNC	99.99	1
FOXRED1	100.00	1
FXN	99.96	1
GAA	100.00	1
GATA4	99.99	1
GATA5	100.00	1
GATA6	99.90	1
GATAD1	99.79	1
GDF1	100.00	1
GJA1	100.00	1
GJA5	100.00	1
GLA	99.90	1
GLB1	100.00	1
GPD1L	99.97	1
GUSB	95.07	1
HAND1	99.99	1
HCN4	100.00	1
HFE	100.00	1
HRAS	100.00	1
ILK	100.00	1
JAG1	100.00	1
JPH2	99.99	1
JUP	99.94	1
KCNA5	100.00	1
KCND3	99.98	1
KCNE1	87.07	1
KCNE2	99.99	1
KCNE3	100.00	1
KCNE5	99.97	1
KCNH2	99.99	1
KCNJ2	100.00	1
KCNJ5	99.99	1
KCNJ8	100.00	1
KCNQ1	100.00	1
KRAS	99.13	1
LAMA4	99.93	1
LAMP2	98.95	1
LDB3	99.91	1
LMNA	99.96	1
MAP2K1	99.98	1
MAP2K2	99.99	1
MED13L	99.99	1
MIB1	99.91	1
MRPL3	99.94	1
MYBPC3	99.98	1
MYH6	100.00	1
MYH7	99.99	1
MYL2	99.99	1
MYL3	99.99	1
MYLK2	100.00	1
MYOM1	99.98	1
MYOZ1	99.93	1
MYOZ2	99.99	1
MYPN	99.88	1
NEBL	99.86	1
NEXN	97.73	1
NKX2-5	99.75	1
NKX2-6	100.00	1
NOS1AP	99.91	1
NPPA	100.00	1
NRAS	99.66	1
PDLIM3	99.94	1
PKP2	94.27	1
PLN	99.97	1
PRKAG2	99.96	1
PSEN1	100.00	1
PSEN2	99.97	1
PTPN11	99.98	1
RAF1	99.97	1
RANGRF	100.00	1
RBM20	99.99	1
RYR2	99.94	1
SCN1B	99.98	1
SCN2B	100.00	1
SCN3B	100.00	1
SCN4B	100.00	1
SCN5A	100.00	1
SCO2	100.00	1
SDHA	99.98	1
SGCD	100.00	1
SHOC2	99.96	1
SLC25A3	99.79	1
SLMAP	99.55	1
SMAD3	99.99	1
SNTA1	99.99	1
SOD2	99.98	1
SOS1	99.68	1
SPRED1	99.99	1
SYNE1	99.95	1
SYNE2	99.95	1
TAFAZZIN	99.98	1
TBX1	99.95	1
TBX20	99.99	1
TCAP	100.00	1
TGFB2	99.87	1
TGFB3	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
TLL1	99.94	1
TMEM43	99.96	1
TMEM70	99.99	1
TMPO	99.81	1
TNNI3	100.00	1
TNNT2	99.87	1
TPM1	99.92	1
TRDN	99.80	1
TRIM63	99.96	1
TRPM4	99.99	1
TSFM	100.00	1
TTN	99.15	1
TTR	100.00	1
TXNRD2	99.97	1
VCL	99.76	1
XK	99.98	1
ZFPM2	100.00	1