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Nierziekten
Nierfalen op kinderleeftijd, CKD-kids (inclusief PKD1 en PKD2) NEF27v23.1
360 genen
Genpanel dekking 15X: 99.2 %
360 genen
Genpanel dekking 15X: 99.2 %
NEF27v23.1
19-02-2025
CEP104
NPHP4
RERE
CCDC28B
YRDC
ZMPSTE24
MMACHC
CPT2
KANK4
ALG6
LRIG2
NOTCH2
CHD1L
MUC1
LMNA
KIRREL
APOA2
NOS1AP
PBX1
NPHS2
CDC73
CFH
CFHR3
CFHR1
CFHR2
CFHR4
CFHR5
KIF14
DDX59
LMOD1
REN
DSTYK
SLC41A1
CD46
CENPF
ADCK3
NUP133
AGT
EXOC8
MTR
SDCCAG8
WDR35
ITSN2
IFT172
XDH
DYNC2LI1
SLC3A1
WDPCP
ATP6V1B1
ALMS1
TPRKB
ACTG2
NPHP1
TTC21B
BBS5
MTX2
TMEM237
BMPR2
FN1
SMARCAL1
BCS1L
CUL3
COL4A4
COL4A3
ARMC9
PDE6D
TRAF3IP1
AGXT
VHL
LZTFL1
LAMB2
CACNA1D
ADAMTS9
ROBO2
ROBO1
ARL13B
ARL6
IFT57
IQCB1
MYLK
SEC61A1
IFT122
NPHP3
DZIP1L
AGTR1
IFT80
CLCN2
DNAJB11
TP63
IL1RAP
TCTEX1D2
EVC2
EVC
SLC2A9
CC2D2A
SLIT2
TBC1D1
WDR19
SCARB2
FRAS1
COQ2
PKD2
NPNT
CFI
BBS7
BBS12
INTU
SCLT1
NR3C2
FGA
NEK1
FAT1
MTRR
C5orf42
LIFR
ERCC8
CEP120
TXNDC15
KLHL3
NR3C1
SYNPO
E2F3
DCDC2
CFB
TNXB
DAAM2
XPO5
CD2AP
PKHD1
ICK
TBX18
PDSS2
SEC63
AHI1
RMND1
HOXA13
BBS9
ANLN
MAGI2
CEP41
PODXL
NUP205
ATP6V0A4
NCAPG2
WDR60
DLC1
FGF20
PCM1
SOX17
CHD7
CSPP1
EYA1
TMEM67
C8orf37
GDF6
RRM2B
CYP11B1
CYP11B2
CBWD1
KANK1
GLIS3
FREM1
BNC2
IFT74
GRHPR
CDK20
ANKS6
SEC61B
INVS
TRIM32
GSN
CRB2
GAPVD1
LMX1B
COQ4
WDR34
TSC1
INPP5E
GATA3
ITGA8
CUBN
PDSS1
TMEM72
ERCC6
SGPL1
FAM149B1
DLG5
CEP55
PLCE1
TCTN3
HOGA1
HPSE2
PAX2
SUFU
TRIM8
ARL3
CYP17A1
BBIP1
GFRA1
CD151
CDKN1C
WT1
NUP160
TMEM138
TMEM216
GANAB
SLC22A12
BBS1
LRP5
DHCR7
NADSYN1
C2CD3
ALG8
TRPC6
DYNC2H1
ALG9
APOA1
CEP164
TMEM218
HYLS1
KCNJ5
WNK1
TULP3
SCNN1A
PTPRO
TENC1
AVIL
GRIP1
NUP107
LYZ
BBS10
CEP290
POC1B
CEP83
IFT81
TCTN1
TCTN2
ALG5
FREM2
PIBF1
GPC5
CLDN10
COL4A1
OSGEP
RPGRIP1
SLC7A7
FAM179B
KIAA0586
DACT1
SIX1
COQ6
IFT43
VIPAS39
TTC8
C14orf142
DICER1
AMN
INF2
FAN1
MAPKBP1
B2M
GATM
MYO1E
BBS4
CHRNA3
WDR73
KIF7
VPS33B
CACNA1H
IFT140
TSC2
PKD1
TRAP1
GLIS2
ANKS3
ALG1
PMM2
EMP2
MYH11
COQ7
UMOD
SCNN1G
SCNN1B
KIAA0556
ZNF423
SALL1
RPGRIP1L
BBS2
NUP93
COQ9
HSD11B2
LCAT
TMEM231
FOXC2
APRT
CTNS
ANKFY1
KIAA0753
TMEM107
MYOCD
B9D1
NEK8
HNF1B
WNK4
SLC4A1
WNT9B
ITGA3
DGKE
MKS1
ACE
NUP85
ITGB4
ARHGDIA
GREB1L
KCTD1
TTR
MOCOS
C3
KANK2
PRKCSH
SLC7A9
NPHS1
ACTN4
SARS2
ADCK4
B9D2
APOE
APOC2
SIX5
CCDC114
MKKS
JAG1
KIF3B
MAFB
IFT52
TP53RK
STX16
LAMA5
ITSN1
APOL1
MYH9
IFT27
CBY1
XPNPEP3
UPK3A
ATXN10
KAL1
OFD1
CLCN5
GLA
NXF5
TBC1D8B
COL4A5
C1GALT1C1
OCRL
GPC3
MAP7D3
ZIC3
FAM58A
LAGE3
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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