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NGS Mendeliome

Panel name NGS Mendeliome
Panel method Wes-based NGS
Panel version ** AUMC_Mendelioom v2
Panel quality *** C
Core-NL No core-NL genes included
CNV analysis No
Note Coverage data volgt nog.
Location Location AMC
Genes (5097) Quality % coverage >30 % coverage >20 Core-NL Note
A2M C
A2ML1 C
A4GALT C
AAAS C
AAGAB C
AARS1 C
AARS2 C
AASS C
ABAT C
ABCA1 C
ABCA12 C
ABCA2 C
ABCA3 C
ABCA4 C
ABCA5 C
ABCB10 C
ABCB11 C
ABCB4 C
ABCB6 C
ABCB7 C
ABCC1 C
ABCC2 C
ABCC6 C
ABCC8 C
ABCC9 C
ABCD1 C
ABCD2 C
ABCD3 C
ABCD4 C
ABCG5 C
ABCG8 C
ABHD12 C
ABHD16A C
ABHD5 C
ABL1 C
ACACA C
ACAD8 C
ACAD9 C
ACADM C
ACADS C
ACADSB C
ACADVL C
ACAN C
ACAT1 C
ACAT2 C
ACBD5 C
ACBD6 C
ACD C
ACE C
ACER3 C
ACKR3 C
ACO2 C
ACOX1 C
ACOX2 C
ACP4 C
ACP5 C
ACSF3 C
ACSL4 C
ACSL6 C
ACTA1 C
ACTA2 C
ACTB C
ACTC1 C
ACTG1 C
ACTG2 C
ACTL6A C
ACTL6B C
ACTL9 C
ACTN1 C
ACTN2 C
ACTN4 C
ACVR1 C
ACVR1B C
ACVR2B C
ACVRL1 C
ACY1 C
ADA C
ADA2 C
ADAD2 C
ADAM10 C
ADAM17 C
ADAM22 C
ADAM9 C
ADAMTS1 C
ADAMTS10 C
ADAMTS13 C
ADAMTS17 C
ADAMTS18 C
ADAMTS19 C
ADAMTS2 C
ADAMTS3 C
ADAMTS9 C
ADAMTSL2 C
ADAMTSL4 C
ADAR C
ADARB1 C
ADAT3 C
ADCK2 C
ADCK5 C
ADCY1 C
ADCY10 C
ADCY3 C
ADCY5 C
ADCY6 C
ADD1 C
ADD3 C
ADGRE2 C
ADGRG1 C
ADGRG2 C
ADGRG6 C
ADGRV1 C
ADH5 C
ADIPOQ C
ADIPOR1 C
ADK C
ADNP C
ADPRS C
ADRA2B C
ADRB2 C
ADSL C
ADSS1 C
AEBP1 C
AFF2 C
AFF3 C
AFF4 C
AFG3L2 C
AFP C
AGA C
AGAP1 C
AGBL1 C
AGBL5 C
AGK C
AGL C
AGMO C
AGO1 C
AGO2 C
AGPAT2 C
AGPS C
AGRN C
AGT C
AGTPBP1 C
AGTR1 C
AGTR2 C
AGXT C
AHCY C
AHDC1 C
AHI1 C
AHNAK2 C
AHR C
AHSG C
AICDA C
AIFM1 C
AIMP1 C
AIMP2 C
AIP C
AIPL1 C
AIRE C
AK1 C
AK2 C
AK7 C
AKAP9 C
AKR1C1 C
AKR1C2 C
AKR1D1 C
AKT1 C
AKT2 C
AKT3 C
ALAD C
ALAS2 C
ALB C
ALDH18A1 C
ALDH1A2 C
ALDH1A3 C
ALDH1B1 C
ALDH2 C
ALDH3A2 C
ALDH4A1 C
ALDH5A1 C
ALDH6A1 C
ALDH7A1 C
ALDOA C
ALDOB C
ALG1 C
ALG10 C
ALG11 C
ALG12 C
ALG13 C
ALG14 C
ALG2 C
ALG3 C
ALG6 C
ALG8 C
ALG9 C
ALK C
ALKBH1 C
ALKBH8 C
ALMS1 C
ALOX12B C
ALOXE3 C
ALPI C
ALPK1 C
ALPK3 C
ALPL C
ALS2 C
ALX1 C
ALX3 C
ALX4 C
AMACR C
AMBN C
AMELX C
AMER1 C
AMH C
AMHR2 C
AMMECR1 C
AMN C
AMPD1 C
AMPD2 C
AMPD3 C
AMT C
AMTN C
ANAPC1 C
ANAPC7 C
ANG C
ANGPT1 C
ANGPT2 C
ANGPTL3 C
ANGPTL4 C
ANK1 C
ANK2 C
ANK3 C
ANKFY1 C
ANKH C
ANKLE2 C
ANKRD1 C
ANKRD11 C
ANKRD17 C
ANKRD26 C
ANKS1B C
ANKS6 C
ANLN C
ANO10 C
ANO3 C
ANO5 C
ANO6 C
ANOS1 C
ANTXR1 C
ANTXR2 C
ANXA11 C
AOPEP C
AP1B1 C
AP1G1 C
AP1S1 C
AP1S2 C
AP1S3 C
AP2M1 C
AP2S1 C
AP3B1 C
AP3B2 C
AP3D1 C
AP4B1 C
AP4E1 C
AP4M1 C
AP4S1 C
AP5Z1 C
APC C
APC2 C
APCDD1 C
APOA1 C
APOA2 C
APOA5 C
APOB C
APOC2 C
APOC3 C
APOE C
APOL1 C
APOO C
APP C
APRT C
APTX C
AQP2 C
AQP5 C
AR C
ARCN1 C
ARF1 C
ARF3 C
ARFGEF1 C
ARFGEF2 C
ARG1 C
ARHGAP24 C
ARHGAP26 C
ARHGAP29 C
ARHGAP31 C
ARHGAP35 C
ARHGDIA C
ARHGEF1 C
ARHGEF10 C
ARHGEF18 C
ARHGEF2 C
ARHGEF28 C
ARHGEF6 C
ARHGEF9 C
ARID1A C
ARID1B C
ARID2 C
ARIH1 C
ARL13B C
ARL2 C
ARL2BP C
ARL3 C
ARL6 C
ARL6IP1 C
ARMC2 C
ARMC5 C
ARMC9 C
ARNT2 C
ARPC1B C
ARPC4 C
ARR3 C
ARSA C
ARSB C
ARSG C
ARSK C
ARSL C
ARV1 C
ARX C
ASAH1 C
ASB10 C
ASCC1 C
ASCL1 C
ASH1L C
ASIP C
ASL C
ASNS C
ASPA C
ASPH C
ASPM C
ASPRV1 C
ASPSCR1 C
ASRGL1 C
ASS1 C
ASTL C
ASXL1 C
ASXL2 C
ASXL3 C
ATAD1 C
ATAD3A C
ATAD3B C
ATCAY C
ATF3 C
ATF6 C
ATG4A C
ATG4B C
ATG5 C
ATG7 C
ATIC C
ATL1 C
ATL3 C
ATM C
ATN1 C
ATOH1 C
ATOH7 C
ATP11A C
ATP11C C
ATP13A2 C
ATP1A1 C
ATP1A2 C
ATP1A3 C
ATP2A1 C
ATP2A2 C
ATP2B1 C
ATP2B2 C
ATP2B3 C
ATP2C1 C
ATP4A C
ATP5F1A C
ATP5F1B C
ATP5F1C C
ATP5F1D C
ATP5F1E C
ATP5IF1 C
ATP5MC1 C
ATP5MC2 C
ATP5MC3 C
ATP5ME C
ATP5MF C
ATP5MG C
ATP5MGL C
ATP5MK C
ATP5PB C
ATP5PD C
ATP5PF C
ATP5PO C
ATP6AP1 C
ATP6AP2 C
ATP6V0A1 C
ATP6V0A2 C
ATP6V0A4 C
ATP6V0C C
ATP6V1A C
ATP6V1B1 C
ATP6V1B2 C
ATP6V1E1 C
ATP7A C
ATP7B C
ATP8A2 C
ATP8B1 C
ATP9A C
ATPAF1 C
ATPAF2 C
ATR C
ATRX C
ATXN1 C
ATXN10 C
ATXN2 C
ATXN2L C
ATXN3 C
ATXN7 C
ATXN8OS C
AUH C
AURKC C
AUTS2 C
AVIL C
AVP C
AVPR2 C
AXIN1 C
AXIN2 C
AXL C
B2M C
B3GALNT1 C
B3GALNT2 C
B3GALT6 C
B3GAT3 C
B3GLCT C
B4GALNT1 C
B4GALNT2 C
B4GALT1 C
B4GALT7 C
B4GAT1 C
B9D1 C
B9D2 C
BAAT C
BACH2 C
BAG3 C
BAG5 C
BANF1 C
BAP1 C
BARD1 C
BAX C
BAZ2B C
BBIP1 C
BBS1 C
BBS10 C
BBS12 C
BBS2 C
BBS4 C
BBS5 C
BBS7 C
BBS9 C
BCAP31 C
BCAS3 C
BCAT1 C
BCAT2 C
BCHE C
BCKDHA C
BCKDHB C
BCKDK C
BCL10 C
BCL11A C
BCL11B C
BCL2 C
BCL7A C
BCO1 C
BCOR C
BCORL1 C
BCS1L C
BDP1 C
BEAN1 C
BECN1 C
BEST1 C
BFSP1 C
BFSP2 C
BGN C
BHLHA9 C
BICC1 C
BICD2 C
BICRA C
BIN1 C
BLK C
BLM C
BLNK C
BLOC1S1 C
BLOC1S3 C
BLOC1S5 C
BLOC1S6 C
BLTP1 C
BLVRA C
BMP1 C
BMP15 C
BMP2 C
BMP4 C
BMP6 C
BMP7 C
BMPER C
BMPR1A C
BMPR1B C
BMPR2 C
BMS1 C
BNC1 C
BNC2 C
BNIP3 C
BOLA1 C
BOLA2 C
BOLA3 C
BPGM C
BPNT2 C
BPTF C
BPY2 C
BPY2B C
BPY2C C
BRAF C
BRAT1 C
BRCA1 C
BRCA2 C
BRD4 C
BRDT C
BRF1 C
BRIP1 C
BRPF1 C
BRSK2 C
BRWD3 C
BSCL2 C
BSND C
BTD C
BTG4 C
BTK C
BTRC C
BUB1 C
BUB1B C
BUB3 C
BVES C
C11orf80 C
C12orf4 C
C12orf57 C
C14orf39 C
C19orf12 C
C1GALT1C1 C
C1QA C
C1QB C
C1QBP C
C1QC C
C1QTNF5 C
C1R C
C1S C
C2 C
C2CD3 C
C2CD6 C
C2orf69 C
C3 C
C4A C
C4B C
C5 C
C6 C
C7 C
C8A C
C8B C
C8G C
C9 C
C9orf72 C
CA12 C
CA2 C
CA4 C
CA5A C
CA8 C
CABIN1 C
CABP2 C
CABP4 C
CACNA1A C
CACNA1B C
CACNA1C C
CACNA1D C
CACNA1E C
CACNA1F C
CACNA1G C
CACNA1H C
CACNA1I C
CACNA1S C
CACNA2D1 C
CACNA2D2 C
CACNA2D4 C
CACNB2 C
CACNB4 C
CACNG2 C
CAD C
CADM3 C
CALCRL C
CALM1 C
CALM2 C
CALM3 C
CALR C
CAMK2A C
CAMK2B C
CAMK2G C
CAMK4 C
CAMTA1 C
CANT1 C
CAPN1 C
CAPN10 C
CAPN12 C
CAPN15 C
CAPN3 C
CAPN5 C
CARD10 C
CARD11 C
CARD14 C
CARD8 C
CARD9 C
CARMIL2 C
CARS1 C
CARS2 C
CASK C
CASP10 C
CASP14 C
CASP8 C
CASQ1 C
CASQ2 C
CASR C
CAST C
CASZ1 C
CAT C
CATIP C
CATSPER1 C
CATSPER2 C
CAV1 C
CAV3 C
CAVIN1 C
CBL C
CBLB C
CBLIF C
CBS C
CBX2 C
CBY1 C
CC2D1A C
CC2D2A C
CCBE1 C
CCDC103 C
CCDC115 C
CCDC134 C
CCDC141 C
CCDC174 C
CCDC186 C
CCDC22 C
CCDC28B C
CCDC32 C
CCDC39 C
CCDC40 C
CCDC47 C
CCDC50 C
CCDC62 C
CCDC65 C
CCDC78 C
CCDC8 C
CCDC88A C
CCDC88C C
CCL2 C
CCM2 C
CCN6 C
CCND2 C
CCNF C
CCNK C
CCNO C
CCNQ C
CCR5 C
CCT2 C
CCT5 C
CD151 C
CD164 C
CD19 C
CD247 C
CD27 C
CD28 C
CD2AP C
CD320 C
CD36 C
CD3D C
CD3E C
CD3G C
CD4 C
CD40 C
CD40LG C
CD46 C
CD48 C
CD55 C
CD59 C
CD70 C
CD79A C
CD79B C
CD81 C
CD8A C
CD96 C
CDAN1 C
CDC14A C
CDC40 C
CDC42 C
CDC42BPB C
CDC45 C
CDC6 C
CDC73 C
CDCA7 C
CDH1 C
CDH11 C
CDH15 C
CDH2 C
CDH23 C
CDH3 C
CDH4 C
CDHR1 C
CDIN1 C
CDK10 C
CDK13 C
CDK16 C
CDK19 C
CDK4 C
CDK5 C
CDK5RAP2 C
CDK6 C
CDK8 C
CDKL5 C
CDKN1A C
CDKN1B C
CDKN1C C
CDKN2A C
CDKN2B C
CDKN2B-AS1 C
CDKN2C C
CDON C
CDSN C
CDT1 C
CDY1 C
CDY1B C
CDY2A C
CDY2B C
CEACAM16 C
CEBPA C
CEBPE C
CEL C
CELA2A C
CELF2 C
CELSR1 C
CENPE C
CENPF C
CENPJ C
CENPS C
CENPT C
CEP104 C
CEP112 C
CEP120 C
CEP135 C
CEP152 C
CEP164 C
CEP19 C
CEP250 C
CEP290 C
CEP41 C
CEP55 C
CEP57 C
CEP63 C
CEP78 C
CEP83 C
CEP85L C
CEP89 C
CERKL C
CERS1 C
CERS3 C
CERT1 C
CES1 C
CETP C
CFAP251 C
CFAP276 C
CFAP298 C
CFAP300 C
CFAP410 C
CFAP418 C
CFAP43 C
CFAP44 C
CFAP45 C
CFAP47 C
CFAP52 C
CFAP53 C
CFAP58 C
CFAP65 C
CFAP69 C
CFAP70 C
CFAP91 C
CFB C
CFC1 C
CFD C
CFH C
CFHR1 C
CFHR2 C
CFHR3 C
CFHR4 C
CFHR5 C
CFI C
CFL2 C
CFP C
CFTR C
CHAMP1 C
CHAT C
CHCHD10 C
CHCHD2 C
CHD1 C
CHD2 C
CHD3 C
CHD4 C
CHD5 C
CHD7 C
CHD8 C
CHEK2 C
CHIT1 C
CHKA C
CHKB C
CHM C
CHMP1A C
CHMP2B C
CHMP4B C
CHN1 C
CHP1 C
CHRDL1 C
CHRM1 C
CHRM2 C
CHRM3 C
CHRNA1 C
CHRNA2 C
CHRNA3 C
CHRNA4 C
CHRNA7 C
CHRNB1 C
CHRNB2 C
CHRND C
CHRNE C
CHRNG C
CHST11 C
CHST14 C
CHST3 C
CHST6 C
CHST8 C
CHSY1 C
CHUK C
CIB1 C
CIB2 C
CIBAR1 C
CIC C
CIDEC C
CIITA C
CILK1 C
CIP2A C
CISD2 C
CIT C
CITED2 C
CIZ1 C
CKAP2L C
CLCC1 C
CLCF1 C
CLCN1 C
CLCN2 C
CLCN3 C
CLCN4 C
CLCN5 C
CLCN6 C
CLCN7 C
CLCNKA C
CLCNKB C
CLDN1 C
CLDN10 C
CLDN11 C
CLDN14 C
CLDN16 C
CLDN19 C
CLDN2 C
CLDN9 C
CLEC3B C
CLEC4D C
CLEC7A C
CLIC2 C
CLIC5 C
CLIP1 C
CLMP C
CLN3 C
CLN5 C
CLN6 C
CLN8 C
CLP1 C
CLPB C
CLPP C
CLPX C
CLRN1 C
CLRN2 C
CLTC C
CLTCL1 C
CLUAP1 C
CMAS C
CNBP C
CNGA1 C
CNGA2 C
CNGA3 C
CNGB1 C
CNGB3 C
CNKSR2 C
CNNM2 C
CNNM4 C
CNOT1 C
CNOT2 C
CNOT3 C
CNP C
CNPY3 C
CNTN1 C
CNTN2 C
CNTN3 C
CNTNAP1 C
CNTNAP2 C
COA1 C
COA3 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
COL10A1 C
COL11A1 C