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Nierziekten
Erfelijke nierziekte (incl. niertumoren). NB: MUC1 VNTR Cytosine insertie doorgaans niet aantoonbaar. NEF00v21.1
495 genen
Genpanel dekking 15X: 99.8 %
495 genen
Genpanel dekking 15X: 99.8 %
NEF00v21.1
10-04-2024
NRAS
NGF
ATP1A1
NOTCH2
RBM8A
CHD1L
MUC1
LMNA
KIRREL
KCNJ10
HSPA6
NOS1AP
PBX1
ADCY10
SLC19A2
NPHS2
CDC73
CFH
CFHR3
CFHR1
CFHR2
CEP104
NPHP4
RERE
CLCNKA
CLCNKB
SDHB
ALPL
WNT4
CCDC28B
YRDC
ZMPSTE24
CLDN19
MMACHC
PRDX1
CPT2
BSND
KANK4
ALG6
LRIG2
CFHR4
CFHR5
KIF14
DDX59
CACNA1S
LMOD1
REN
DSTYK
SLC41A1
CD46
CENPF
KCTD3
ADCK3
NUP133
AGT
EXOC8
MTR
CHRM3
FH
SDCCAG8
WDR35
ITSN2
IFT172
XDH
HAAO
DYNC2LI1
SLC3A1
SIX2
EPCAM
WDPCP
ATP6V1B1
ALMS1
TPRKB
ACTG2
FAHD2A
NPHP1
PAX8
KYNU
ZEB2
GALNT3
TTC21B
LRP2
BBS5
HOXD13
MTX2
TMEM237
BMPR2
FN1
SMARCAL1
BCS1L
CUL3
COL4A4
COL4A3
ARMC9
PDE6D
TRAF3IP1
AGXT
VHL
SCN11A
SLC6A20
LZTFL1
PTH1R
LAMB2
CACNA1D
ADAMTS9
ROBO2
ROBO1
ARL13B
ARL6
IFT57
IQCB1
CASR
MYLK
SEC61A1
IFT122
NPHP3
DZIP1L
AGTR1
IFT80
SLC2A2
NAALADL2
CLCN2
EHHADH
DNAJB11
LPP
TP63
CLDN16
IL1RAP
TCTEX1D2
SLC26A1
EVC2
EVC
SLC2A9
CC2D2A
SLIT2
TBC1D1
WDR19
SLC4A4
SCARB2
FRAS1
COQ2
ARHGAP24
DMP1
PKD2
NPNT
CFI
EGF
BBS7
BBS12
INTU
SCLT1
NR3C2
FGA
NEK1
FAT1
SLC9A3
SLC6A19
MTRR
FAM134B
C5orf42
GDNF
RICTOR
ISL1
ERCC8
CEP120
TXNDC15
KLHL3
NR3C1
SYNPO
SLC36A2
SLIT3
FOXI1
SLC34A1
E2F3
DCDC2
NEU1
CFB
TNXB
UQCC2
DAAM2
XPO5
CD2AP
PKHD1
ICK
DST
TBX18
RRAGD
FBXL4
PDSS2
SEC63
ENPP1
AHI1
RMND1
FAM20C
SKAP2
HOXA10
HOXA13
EVX1
BBS9
ANLN
GLI3
MAGI2
CYP3A4
SLC26A3
DOCK4
MET
CEP41
PODXL
NUP205
ATP6V0A4
AGK
NCAPG2
WDR60
DLC1
FGF20
PCM1
FGFR1
SOX17
CHD7
CSPP1
EYA1
CA2
TMEM67
C8orf37
GDF6
RRM2B
CYP11B1
CYP11B2
DGAT1
CBWD1
KANK1
GLIS3
FREM1
BNC2
IFT74
GALT
GRHPR
TRPM6
CDK20
SPTLC1
ANKS6
SEC61B
INVS
ALDOB
IKBKAP
TRIM32
GSN
CRB2
GAPVD1
LMX1B
COQ4
WDR34
PRDM12
TSC1
ADAMTS13
INPP5E
SLC34A3
GATA3
ITGA8
CUBN
PDSS1
RET
TMEM72
ERCC6
BICC1
ZNF365
NEUROG3
SGPL1
PCBD1
PSAP
FAM149B1
PTEN
ACTA2
SLC16A12
CEP55
PLCE1
TCTN3
HOGA1
HPSE2
PAX2
FGF8
TRIM8
ARL3
CYP17A1
CNNM2
BBIP1
GFRA1
HRAS
CD151
CDKN1C
CYP2R1
WT1
LRP4
NUP160
TMEM138
TMEM216
GANAB
SLC22A12
PYGM
BBS1
LRP5
DHCR7
C2CD3
ALG8
TRPC6
DYNC2H1
ALG9
APOA1
CEP164
FXYD2
SLC37A4
HYLS1
KCNJ1
KCNJ5
WNK1
FGF23
SCNN1A
GUCY2C
PTPRO
KRAS
VDR
AQP2
TENC1
CYP27B1
AVIL
GRIP1
NUP107
LYZ
BBS10
CEP290
POC1B
CEP83
IFT81
TCTN1
TCTN2
KL
ALG5
FREM2
ATP7B
PIBF1
GPC5
CLDN10
COL4A1
OSGEP
RPGRIP1
SLC7A7
LRP10
FAM179B
BMP4
TMEM260
KIAA0586
DACT1
SIX1
COQ6
IFT43
VIPAS39
SPTLC2
TTC8
C14orf142
DICER1
AMN
INF2
FAN1
GREM1
MAPKBP1
B2M
GATM
SLC12A1
TRPM7
WDR72
MYO1E
BBS4
STRA6
CHRNA3
FAH
WDR73
KIF7
VPS33B
CACNA1H
IFT140
TSC2
PKD1
TRAP1
GLIS2
ANKS3
ALG1
PMM2
EMP2
MYH11
COQ7
UMOD
SCNN1G
SCNN1B
KIAA0556
TBX6
SLC5A2
ZNF423
SALL1
RPGRIP1L
BBS2
NUP93
SLC12A3
COQ9
HSD11B2
LCAT
TMEM231
FOXF1
FOXC2
APRT
CTNS
ANKFY1
KIAA0753
TMEM107
COX10
FLCN
B9D1
NEK8
LHX1
HNF1B
WNK4
G6PC
SLC4A1
WNT9B
ITGA3
DGKE
MKS1
ACE
STRADA
SCN4A
FAM20A
SLC9A3R1
TMEM104
NUP85
ITGB4
ARHGDIA
GREB1L
KCTD1
MOCOS
MYO5B
GNA11
C3
KANK2
PRKCSH
TSHZ3
SLC7A9
NPHS1
SPINT2
ACTN4
SARS2
ADCK4
B9D2
APOE
SIX5
AP2S1
CCDC114
AVP
MKKS
JAG1
THBD
KIF3B
MAFB
IFT52
HNF4A
TP53RK
SALL4
CYP24A1
STX16
GNAS
LAMA5
ITSN1
APOL1
MYH9
IFT27
CBY1
XPNPEP3
UPK3A
ATXN10
ARSA
KAL1
OFD1
PHEX
CLCN5
MAGED2
GLA
NXF5
TBC1D8B
COL4A5
OCRL
GPC3
HPRT1
MAP7D3
ZIC3
FAM58A
AVPR2
LAGE3
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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