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Jong nierfalen, CKD-Y (inclusief PKD1 en PKD2). NB: MUC1 VNTR Cytosine insertie doorgaans niet aantoonbaar. NEF24v21.1
256 genen
Genpanel dekking 15X: 99.2 %
256 genen
Genpanel dekking 15X: 99.2 %
NEF24v21.1
06-03-2024
CEP104
NPHP4
YRDC
ZMPSTE24
MMACHC
KANK4
LRIG2
NOTCH2
MUC1
LMNA
KIRREL
NOS1AP
PBX1
NPHS2
CFH
CFHR3
CFHR1
CFHR2
CFHR4
CFHR5
REN
DSTYK
SLC41A1
CD46
NUP133
AGT
MTR
SDCCAG8
WDR35
ITSN2
XDH
SLC3A1
WDPCP
ALMS1
TPRKB
ACTG2
NPHP1
TTC21B
BBS5
MTX2
TMEM237
BMPR2
FN1
SMARCAL1
BCS1L
CUL3
COL4A4
COL4A3
ARMC9
TRAF3IP1
AGXT
LZTFL1
LAMB2
CACNA1D
ADAMTS9
ROBO2
ARL13B
ARL6
IQCB1
SEC61A1
NPHP3
AGTR1
CLCN2
DNAJB11
IL1RAP
SLC2A9
CC2D2A
WDR19
SCARB2
FRAS1
COQ2
ARHGAP24
PKD2
CFI
BBS7
BBS12
NR3C2
FGA
FAT1
MTRR
C5orf42
KLHL3
NR3C1
E2F3
DCDC2
CFB
TNXB
DAAM2
CD2AP
PKHD1
TBX18
PDSS2
AHI1
RMND1
BBS9
ANLN
MAGI2
CEP41
PODXL
NUP205
WDR60
DLC1
PCM1
SOX17
CHD7
CSPP1
EYA1
TMEM67
C8orf37
RRM2B
CYP11B1
CYP11B2
KANK1
FREM1
IFT74
GRHPR
CDK20
ANKS6
INVS
TRIM32
GSN
CRB2
GAPVD1
LMX1B
INPP5E
GATA3
ITGA8
CUBN
PDSS1
TMEM72
BICC1
SGPL1
FAM149B1
PLCE1
TCTN3
HOGA1
HPSE2
PAX2
TRIM8
CYP17A1
BBIP1
CD151
WT1
NUP160
TMEM138
TMEM216
GANAB
SLC22A12
BBS1
TRPC6
APOA1
CEP164
HYLS1
KCNJ5
WNK1
SCNN1A
PTPRO
TENC1
AVIL
GRIP1
NUP107
LYZ
BBS10
CEP290
POC1B
CEP83
IFT81
TCTN1
TCTN2
FREM2
PIBF1
OSGEP
SLC7A7
FAM179B
KIAA0586
DACT1
SIX1
COQ6
VIPAS39
TTC8
AMN
INF2
FAN1
MAPKBP1
B2M
GATM
MYO1E
BBS4
WDR73
VPS33B
CACNA1H
PKD1
TRAP1
GLIS2
ALG1
PMM2
EMP2
MYH11
UMOD
SCNN1G
SCNN1B
KIAA0556
ZNF423
SALL1
RPGRIP1L
BBS2
NUP93
HSD11B2
TMEM231
FOXC2
APRT
CTNS
TMEM107
B9D1
NEK8
HNF1B
WNK4
SLC4A1
ITGA3
DGKE
MKS1
ACE
NUP85
ITGB4
ARHGDIA
MOCOS
C3
KANK2
SLC7A9
NPHS1
ACTN4
SARS2
ADCK4
B9D2
APOE
SIX5
MKKS
JAG1
KIF3B
MAFB
TP53RK
STX16
ITSN1
APOL1
MYH9
IFT27
XPNPEP3
ATXN10
OFD1
CLCN5
GLA
NXF5
TBC1D8B
COL4A5
OCRL
MAP7D3
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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