NGS Preconceptiepanel (tbv consanguine paren)


Panel naam	NGS Preconceptiepanel (tbv consanguine paren)
Panel methode	WES-based NGS
Panel versie **	AUMC_PCO_consanguin_v1.2
Panel kwaliteit ***	C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Nee
Notitie	Coverage details volgen
Locatie	Locatie AMC


Genen (2360)	Kwaliteit	% coverage >30	% coverage >20	Core-NL	Notitie
AAAS	C
AARS1	C
AARS2	C
AASS	C
ABAT	C
ABCA1	C
ABCA3	C
ABCA4	C
ABCB11	C
ABCB4	C
ABCC2	C
ABCC6	C
ABCC8	C
ABCD3	C
ABCD4	C
ABCG5	C
ABCG8	C
ABHD12	C
ABHD5	C
ACACA	C
ACAD8	C
ACAD9	C
ACADM	C
ACADS	C
ACADSB	C
ACADVL	C
ACAN	C
ACAT1	C
ACD	C
ACE	C
ACER3	C
ACO2	C
ACOX1	C
ACOX2	C
ACP5	C
ACSF3	C
ACTA1	C
ACTL6B	C
ACY1	C
ADA	C
ADA2	C
ADAM17	C
ADAM22	C
ADAM9	C
ADAMTS10	C
ADAMTS13	C
ADAMTS17	C
ADAMTS18	C
ADAMTS2	C
ADAMTS3	C
ADAMTSL2	C
ADAMTSL4	C
ADAR	C
ADARB1	C
ADAT3	C
ADCY1	C
ADCY6	C
ADD3	C
ADGRG1	C
ADGRG6	C
ADGRV1	C
ADK	C
ADPRS	C
ADSL	C
ADSS1	C
AEBP1	C
AFG3L2	C
AGA	C
AGBL5	C
AGK	C
AGL	C
AGPAT2	C
AGPS	C
AGRN	C
AGT	C
AGTPBP1	C
AGTR1	C
AGXT	C
AHCY	C
AHI1	C
AHR	C
AHSG	C
AICDA	C
AIMP1	C
AIMP2	C
AIPL1	C
AIRE	C
AK1	C
AK2	C
AKR1D1	C
ALAD	C
ALB	C
ALDH18A1	C
ALDH1A3	C
ALDH3A2	C
ALDH4A1	C
ALDH5A1	C
ALDH6A1	C
ALDH7A1	C
ALDOA	C
ALDOB	C
ALG1	C
ALG11	C
ALG12	C
ALG14	C
ALG2	C
ALG3	C
ALG6	C
ALG8	C
ALG9	C
ALKBH8	C
ALMS1	C
ALOX12B	C
ALOXE3	C
ALPK3	C
ALPL	C
ALS2	C
ALX1	C
ALX3	C
ALX4	C
AMACR	C
AMBN	C
AMN	C
AMPD1	C
AMPD2	C
AMT	C
ANAPC1	C
ANGPTL3	C
ANK1	C
ANK3	C
ANKH	C
ANKLE2	C
ANKS6	C
ANO10	C
ANO5	C
ANO6	C
ANTXR1	C
ANTXR2	C
AP1B1	C
AP1S1	C
AP3B1	C
AP3B2	C
AP3D1	C
AP4B1	C
AP4E1	C
AP4M1	C
AP4S1	C
AP5Z1	C
APC2	C
APOC2	C
APOE	C
APRT	C
APTX	C
AQP2	C
ARFGEF2	C
ARG1	C
ARHGDIA	C
ARHGEF18	C
ARHGEF2	C
ARL13B	C
ARL2BP	C
ARL3	C
ARL6	C
ARL6IP1	C
ARMC9	C
ARNT2	C
ARPC1B	C
ARSA	C
ARSB	C
ARSG	C
ARV1	C
ASAH1	C
ASCC1	C
ASL	C
ASNS	C
ASPA	C
ASPH	C
ASPM	C
ASS1	C
ATAD1	C
ATAD3A	C
ATCAY	C
ATF6	C
ATG5	C
ATIC	C
ATM	C
ATOH7	C
ATP13A2	C
ATP2A1	C
ATP5F1A	C
ATP5F1D	C
ATP5F1E	C
ATP6V0A2	C
ATP6V0A4	C
ATP6V1A	C
ATP6V1B1	C
ATP6V1E1	C
ATP7B	C
ATP8A2	C
ATP8B1	C
ATPAF2	C
ATR	C
AUH	C
AURKC	C
B2M	C
B3GALNT2	C
B3GALT6	C
B3GAT3	C
B3GLCT	C
B4GALNT1	C
B4GALT1	C
B4GALT7	C
B4GAT1	C
B9D1	C
B9D2	C
BAAT	C
BANF1	C
BBIP1	C
BBS1	C
BBS10	C
BBS12	C
BBS2	C
BBS4	C
BBS5	C
BBS7	C
BBS9	C
BCKDHA	C
BCKDHB	C
BCKDK	C
BCL10	C
BCS1L	C
BFSP1	C
BFSP2	C
BHLHA9	C
BIN1	C
BLM	C
BLNK	C
BLOC1S3	C
BLOC1S6	C
BLTP1	C
BLVRA	C
BMP1	C
BMPER	C
BMPR1B	C
BOLA3	C
BPGM	C
BPNT2	C
BRAT1	C
BRCA1	C
BRCA2	C
BRF1	C
BRIP1	C
BSCL2	C
BSND	C
BTD	C
BUB1B	C
BVES	C
C12orf4	C
C12orf57	C
C19orf12	C
C1QA	C
C1QB	C
C1QBP	C
C1QC	C
C1S	C
C2CD3	C
C3	C
C4A	C
C4B	C
C5	C
C8A	C
C8B	C
C9	C
CA12	C
CA2	C
CA5A	C
CA8	C
CABP2	C
CABP4	C
CACNA1B	C
CACNA1D	C
CACNA2D2	C
CAD	C
CAMK2A	C
CANT1	C
CAPN1	C
CAPN10	C
CAPN3	C
CARD11	C
CARD9	C
CARS2	C
CASP14	C
CASP8	C
CASQ2	C
CASR	C
CAST	C
CAT	C
CATSPER1	C
CAV1	C
CAVIN1	C
CBLIF	C
CBS	C
CBX2	C
CC2D1A	C
CC2D2A	C
CCBE1	C
CCDC103	C
CCDC115	C
CCDC174	C
CCDC39	C
CCDC40	C
CCDC47	C
CCDC65	C
CCDC8	C
CCDC88A	C
CCDC88C	C
CCN6	C
CCNO	C
CCT5	C
CD151	C
CD19	C
CD247	C
CD27	C
CD2AP	C
CD320	C
CD3D	C
CD3E	C
CD3G	C
CD40	C
CD55	C
CD59	C
CD79A	C
CD79B	C
CD81	C
CD8A	C
CDAN1	C
CDC14A	C
CDC45	C
CDC6	C
CDCA7	C
CDH11	C
CDH23	C
CDH3	C
CDHR1	C
CDIN1	C
CDK10	C
CDK5	C
CDK5RAP2	C
CDK6	C
CDSN	C
CDT1	C
CEACAM16	C
CEBPE	C
CENPE	C
CENPF	C
CENPJ	C
CEP104	C
CEP120	C
CEP135	C
CEP152	C
CEP164	C
CEP19	C
CEP290	C
CEP41	C
CEP55	C
CEP57	C
CEP63	C
CEP78	C
CEP83	C
CERKL	C
CERS1	C
CERS3	C
CFAP298	C
CFAP410	C
CFAP418	C
CFAP53	C
CFD	C
CFH	C
CFI	C
CFL2	C
CFTR	C
CHAT	C
CHKB	C
CHMP1A	C
CHP1	C
CHRM3	C
CHRNA1	C
CHRNB1	C
CHRND	C
CHRNE	C
CHRNG	C
CHST11	C
CHST14	C
CHST3	C
CHST6	C
CHST8	C
CHSY1	C
CHUK	C
CIB2	C
CIDEC	C
CIITA	C
CILK1	C
CISD2	C
CIT	C
CKAP2L	C
CLCF1	C
CLCN1	C
CLCN2	C
CLCN7	C
CLCNKB	C
CLDN1	C
CLDN10	C
CLDN14	C
CLDN16	C
CLDN19	C
CLIC5	C
CLIP1	C
CLMP	C
CLN3	C
CLN5	C
CLN6	C
CLN8	C
CLP1	C
CLPB	C
CLPP	C
CLRN1	C
CNGA1	C
CNGA3	C
CNGB1	C
CNGB3	C
CNNM2	C
CNNM4	C
CNPY3	C
CNTN1	C
CNTN2	C
CNTNAP1	C
CNTNAP2	C
COA5	C
COA6	C
COA7	C
COA8	C
COASY	C
COCH	C
COG1	C
COG2	C
COG4	C
COG5	C
COG6	C
COG7	C
COG8	C
COL11A1	C
COL11A2	C
COL12A1	C
COL13A1	C
COL17A1	C
COL18A1	C
COL1A2	C
COL25A1	C
COL27A1	C
COL3A1	C
COL4A3	C
COL4A4	C
COL6A1	C
COL6A2	C
COL6A3	C
COL7A1	C
COL9A1	C
COL9A2	C
COLEC10	C
COLEC11	C
COLGALT1	C
COLQ	C
COPB2	C
COQ2	C
COQ4	C
COQ6	C
COQ7	C
COQ8A	C
COQ8B	C
COQ9	C
CORO1A	C
COX10	C
COX14	C
COX15	C
COX20	C
COX4I2	C
COX6A1	C
COX6A2	C
COX6B1	C
COX8A	C
CP	C
CPA6	C
CPAMD8	C
CPLANE1	C
CPLX1	C
CPN1	C
CPOX	C
CPS1	C
CPT1A	C
CPT2	C
CR2	C
CRADD	C
CRAT	C
CRB1	C
CRB2	C
CRBN	C
CREB3L1	C
CRIPT	C
CRLF1	C
CRPPA	C
CRTAP	C
CRYAA	C
CRYAB	C
CRYBB1	C
CRYBB3	C
CSF1R	C
CSF2RB	C
CSPP1	C
CSTA	C
CSTB	C
CTC1	C
CTDP1	C
CTNNA2	C
CTNS	C
CTPS1	C
CTSA	C
CTSC	C
CTSD	C
CTSF	C
CTSK	C
CTU2	C
CUBN	C
CUL7	C
CWC27	C
CWF19L1	C
CYB5A	C
CYB5R3	C
CYBA	C
CYC1	C
CYP11A1	C
CYP11B1	C
CYP11B2	C
CYP17A1	C
CYP19A1	C
CYP1B1	C
CYP21A2	C
CYP24A1	C
CYP26B1	C
CYP26C1	C
CYP27A1	C
CYP27B1	C
CYP2C8	C
CYP2R1	C
CYP2U1	C
CYP4F22	C
CYP4V2	C
CYP7B1	C
D2HGDH	C
DAG1	C
DARS1	C
DARS2	C
DBH	C
DBT	C
DCAF17	C
DCC	C
DCDC2	C
DCHS1	C
DCLRE1C	C
DCPS	C
DDB2	C
DDC	C
DDHD1	C
DDHD2	C
DDOST	C
DDR2	C
DDRGK1	C
DDX11	C
DDX59	C
DEAF1	C
DEGS1	C
DENND5A	C
DES	C
DGAT1	C
DGKE	C
DGUOK	C
DHCR24	C
DHCR7	C
DHDDS	C
DHFR	C
DHH	C
DHODH	C
DHPS	C
DHTKD1	C
DHX38	C
DIAPH1	C
DIS3L2	C
DLAT	C
DLD	C
DLL3	C
DLX5	C
DMGDH	C
DMP1	C
DMXL2	C
DNA2	C
DNAAF1	C
DNAAF11	C
DNAAF2	C
DNAAF3	C
DNAAF4	C
DNAAF5	C
DNAH1	C
DNAH11	C
DNAH5	C
DNAH9	C
DNAI1	C
DNAI2	C
DNAJB2	C
DNAJC12	C
DNAJC19	C
DNAJC21	C
DNAJC3	C
DNAJC6	C
DNAL1	C
DNASE1L3	C
DNM1L	C
DNM2	C
DNMBP	C
DNMT3B	C
DOCK2	C
DOCK3	C
DOCK6	C
DOCK7	C
DOCK8	C
DOK7	C
DOLK	C
DONSON	C
DPAGT1	C
DPH1	C
DPM1	C
DPM2	C
DPM3	C
DPY19L2	C
DPYD	C
DPYS	C
DRAM2	C
DRC1	C
DSC2	C
DSC3	C
DSE	C
DSG4	C
DSP	C
DST	C
DSTYK	C
DTNBP1	C
DUOX2	C
DUOXA2	C
DYM	C
DYNC1I2	C
DYNC2H1	C
DYNC2I1	C
DYNC2I2	C
DYNC2LI1	C
DYNLT2B	C
DYSF	C
DZIP1L	C
EARS2	C
ECEL1	C
ECHS1	C
ECM1	C
EDAR	C
EDARADD	C
EDC3	C
EDN1	C
EDN3	C
EDNRB	C
EFEMP2	C
EFL1	C
EGF	C
EGFR	C
EGR2	C
EIF2AK3	C
EIF2AK4	C
EIF2B1	C
EIF2B2	C
EIF2B3	C
EIF2B4	C
EIF2B5	C
EIF3F	C
EIF4A3	C
ELAC2	C
ELMO2	C
ELMOD3	C
ELOVL4	C
ELP1	C
ELP2	C
EMC1	C
EMG1	C
EML1	C
EMP2	C
ENAM	C
ENO3	C
ENPP1	C
ENTPD1	C
EOGT	C
EPB41	C
EPB42	C
EPCAM	C
EPG5	C
EPHX1	C
EPM2A	C
EPO	C
EPRS1	C
EPS8	C
EPS8L2	C
ERAL1	C
ERBB3	C
ERCC1	C
ERCC2	C
ERCC3	C
ERCC4	C
ERCC5	C
ERCC6	C
ERCC6L2	C
ERCC8	C
ERGIC1	C
ERLIN1	C
ERLIN2	C
ESCO2	C
ESPN	C
ESR1	C
ESRP1	C
ESRRB	C
ETFA	C
ETFB	C
ETFDH	C
ETHE1	C
EVC	C
EVC2	C
EXOC6B	C
EXOSC2	C
EXOSC3	C
EXOSC8	C
EXOSC9	C
EXPH5	C
EXT2	C
EXTL3	C
EYS	C
F10	C
F11	C
F12	C
F13A1	C
F13B	C
F2	C
F5	C
F7	C
FA2H	C
FADD	C
FAH	C
FAM161A	C
FAM20A	C
FAM20C	C
FAN1	C
FANCA	C
FANCB	C
FANCC	C
FANCD2	C
FANCE	C
FANCF	C
FANCG	C
FANCI	C
FANCL	C
FAR1	C
FARS2	C
FARSB	C
FASTKD2	C
FAT4	C
FBLN5	C
FBP1	C
FBXL3	C
FBXL4	C
FBXO31	C
FBXO7	C
FCGR3A	C
FCN3	C
FCSK	C
FDFT1	C
FDX2	C
FDXR	C
FECH	C
FERMT1	C
FERMT3	C
FEZF1	C
FGA	C
FGB	C
FGD4	C
FGF20	C
FGF23	C
FGF3	C
FGG	C
FH	C
FIBP	C
FIG4	C
FITM2	C
FKBP10	C
FKBP14	C
FKRP	C
FKTN	C
FLAD1	C
FLG	C
FLNB	C
FLVCR1	C
FLVCR2	C
FMN2	C
FMO3	C
FOLR1	C
FOXE1	C
FOXE3	C
FOXI1	C
FOXN1	C
FOXRED1	C
FRAS1	C
FREM1	C
FREM2	C
FRMD4A	C
FRRS1L	C
FSHB	C
FSHR	C
FTCD	C
FTO	C
FUCA1	C
FUT8	C
FXN	C
FYCO1	C
FZD6	C
G6PC1	C
G6PC3	C
GAA	C
GAB1	C
GAD1	C
GALC	C
GALE	C
GALK1	C
GALNS	C
GALNT2	C
GALNT3	C
GALT	C
GAMT	C
GAN	C
GAS2L2	C
GAS8	C
GATM	C
GBA1	C
GBA2	C
GBE1	C
GCDH	C
GCH1	C
GCK	C
GCLC	C
GCNT2	C
GCSH	C
GDAP1	C
GDAP2	C
GDF1	C
GDF5	C
GEMIN4	C
GFER	C
GFM1	C
GFM2	C
GFPT1	C
GGCX	C
GGT1	C
GH1	C
GHR	C
GHRHR	C
GHSR	C
GINS1	C
GIPC3	C
GJA1	C
GJB2	C
GJB6	C
GJC2	C
GLB1	C
GLDC	C
GLDN	C
GLE1	C
GLIS2	C
GLIS3	C
GLRA1	C
GLRB	C
GLRX5	C
GLS	C
GLUL	C
GLYCTK	C
GM2A	C
GMPPA	C
GMPPB	C
GNAT2	C
GNB3	C
GNB5	C
GNE	C
GNMT	C
GNPAT	C
GNPTAB	C
GNPTG	C
GNRHR	C
GNS	C
GORAB	C
GOSR2	C
GP1BA	C
GP1BB	C
GP6	C
GP9	C
GPAA1	C
GPC6	C
GPD1	C
GPHN	C
GPI	C
GPIHBP1	C
GPNMB	C
GPR179	C
GPR88	C
GPSM2	C
GPT2	C
GPX4	C
GRAP	C
GRHPR	C
GRID2	C
GRIK2	C
GRIN1	C
GRIP1	C
GRK1	C
GRM1	C
GRM6	C
GRN	C
GRXCR1	C
GRXCR2	C
GSC	C