Nephropathies, hereditary (218 genes) - KUL
Full name: |
Nephropathies, hereditary (218 genes) - KUL
|
Description: |
https://laboboeken.nexuzhealth.com/pboek/internet/GHB/14866
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Version number: |
Nefro_full_v4 (07/07/2021)
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Laboratory: | |
Responsible personnel member: | |
Created: |
03 Jul 2019 - 09:27
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Changed: |
20 Sep 2022 - 16:55
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Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ABCD1 | 95.00 | 0 | NM_030943.3/ interpretable range CS1>95% |
ACE | 95.00 | 0 | NM_000789.3/ interpretable range CS1>95% |
ACTA2 | 95.00 | 0 | NM_001613.3/ interpretable range CS1>95% |
ACTG2 | 95.00 | 0 | NM_001615.3/ interpretable range CS1>95% |
ACTN4 | 95.00 | 0 | NM_004924.5/ interpretable range CS1>95% |
AGTR1 | 95.00 | 0 | NM_031850.3/ interpretable range CS1>95% |
AGXT | 95.00 | 0 | NM_000030.2/ interpretable range CS1>95% |
ALG8 | 95.00 | 0 | NM_024079.4/ interpretable range CS1>95% |
ALG9 | 95.00 | 0 | NM_024740.2/ interpretable range CS1>95% |
ANKS6 | 95.00 | 0 | NM_173551.4/ interpretable range CS1>95% |
ANLN | 95.00 | 0 | NM_018685.4/ interpretable range CS1>95% |
ANOS1 | 95.00 | 0 | NM_000216.3/ interpretable range CS1>95% |
AP2S1 | 95.00 | 0 | NM_004069.4/ interpretable range CS1>95% |
APOA1 | 95.00 | 0 | NM_000039.2/ interpretable range CS1>95% |
APOA2 | 95.00 | 0 | NM_001643.1/ interpretable range CS1>95% |
APOC2 | 95.00 | 0 | NM_000483.4/ interpretable range CS1>95% |
APOE | 95.00 | 0 | NM_000041.3/ interpretable range CS1>95% |
APRT | 95.00 | 0 | NM_000485.2/ interpretable range CS1>95% |
AQP2 | 95.00 | 0 | NM_000486.5/ interpretable range CS1>95% |
ARHGDIA | 95.00 | 0 | NM_001185077.2/ interpretable range CS1>95% |
ATP6V0A4 | 95.00 | 0 | NM_020632.2/ interpretable range CS1>95% |
ATP6V1B1 | 95.00 | 0 | NM_001692.3/ interpretable range CS1>95% |
AVPR2 | 95.00 | 0 | NM_000054.4/ interpretable range CS1>95% |
BMP4 | 95.00 | 0 | NM_001202.5/ interpretable range CS1>95% |
BNC2 | 95.00 | 0 | NM_017637.5/ interpretable range CS1>95% |
BSND | 95.00 | 0 | NM_057176.2/ interpretable range CS1>95% |
C3 | 95.00 | 0 | NM_000064.3/ interpretable range CS1>95% |
CA2 | 95.00 | 0 | NM_000067.2/ interpretable range CS1>95% |
CACNA1H | 95.00 | 0 | NM_021098.2/ interpretable range CS1>95% |
CASR | 95.00 | 0 | NM_000388.3/ interpretable range CS1>95% |
CD2AP | 95.00 | 0 | NM_012120.2/ interpretable range CS1>95% |
CD46 | 95.00 | 0 | NM_002389.4/ interpretable range CS1>95% |
CDC73 | 95.00 | 0 | NM_024529.4/ interpretable range CS1>95% |
CDK20 | 95.00 | 0 | NM_001039803.2/ interpretable range CS1>95% |
CEP83 | 95.00 | 0 | NM_016122.2/ interpretable range CS1>95% |
CFB | 95.00 | 0 | NM_001710.5/ interpretable range CS1>95% |
CFH | 95.00 | 0 | NM_000186.3/ interpretable range CS1>95% |
CFHR1 | 95.00 | 0 | NM_002113.2/ interpretable range CS1>95% |
CFHR3 | 95.00 | 0 | NM_021023.5/ interpretable range CS1>95% |
CFHR5 | 95.00 | 0 | NM_030787.3/ interpretable range CS1>95% |
CFI | 95.00 | 0 | NM_000204.4/ interpretable range CS1>95% |
CHRM3 | 95.00 | 0 | NM_000740.3/ interpretable range CS1>95% |
CHRNA3 | 95.00 | 0 | NM_000743.4/ interpretable range CS1>95% |
CLCN2 | 95.00 | 0 | NM_004366.5/ interpretable range CS1>95% |
CLCN5 | 95.00 | 0 | NM_000084.4/ interpretable range CS1>95% |
CLCNKA | 95.00 | 0 | NM_004070.3/ interpretable range CS1>95% |
CLCNKB | 95.00 | 0 | NM_000085.4/ interpretable range CS1>95% |
CLDN10 | 95.00 | 0 | NM_006984.4/ interpretable range CS1>95% |
CLDN16 | 95.00 | 0 | NM_006580.3/ interpretable range CS1>95% |
CLDN19 | 95.00 | 0 | NM_148960.2/ interpretable range CS1>95% |
CNNM2 | 95.00 | 0 | NM_017649.4/ interpretable range CS1>95% |
COL4A1 | 95.00 | 0 | NM_001845.5/ interpretable range CS1>95% |
COL4A3 | 95.00 | 0 | NM_000091.4/ interpretable range CS1>95% |
COL4A4 | 95.00 | 0 | NM_000092.4/ interpretable range CS1>95% |
COL4A5 | 95.00 | 0 | NM_000495.4/ interpretable range CS1>95% |
COQ2 | 95.00 | 0 | NM_015697.8/ interpretable range CS1>95% |
COQ6 | 95.00 | 0 | NM_182476.2/ interpretable range CS1>95% |
COQ8B | 95.00 | 0 | NM_024876.3/ interpretable range CS1>95% |
CRB2 | 95.00 | 0 | NM_173689.6/ interpretable range CS1>95% |
CTNS | 95.00 | 0 | NM_004937.2/ interpretable range CS1>95% |
CUBN | 95.00 | 0 | NM_001081.3/ interpretable range CS1>95% |
CUL3 | 95.00 | 0 | NM_003590.4/ interpretable range CS1>95% |
CYP11B1 | 95.00 | 0 | NM_000497.3/ interpretable range CS1>95% |
CYP11B2 | 95.00 | 0 | NM_000498.3/ interpretable range CS1>95% |
CYP17A1 | 95.00 | 0 | NM_000102.3/ interpretable range CS1>95% |
CYP24A1 | 95.00 | 0 | NM_000782.4/ interpretable range CS1>95% |
DGKE | 95.00 | 0 | NM_003647.2/ interpretable range CS1>95% |
DLEC1 | 95.00 | 0 | NM_182643.2/ interpretable range CS1>95% |
DNAJB11 | 95.00 | 0 | NM_016306.5/ interpretable range CS1>95% |
DSTYK | 95.00 | 0 | NM_015375.2/ interpretable range CS1>95% |
DZIP1L | 95.00 | 0 | NM_173543.2/ interpretable range CS1>95% |
EGF | 95.00 | 0 | NM_001963.5/ interpretable range CS1>95% |
EHHADH | 95.00 | 0 | NM_001966.3/ interpretable range CS1>95% |
EMP2 | 95.00 | 0 | NM_001424.5/ interpretable range CS1>95% |
EYA1 | 95.00 | 0 | NM_000503.5/ interpretable range CS1>95% |
FAM20A | 95.00 | 0 | NM_017565.3/ interpretable range CS1>95% |
FAN1 | 95.00 | 0 | NM_014967.4/ interpretable range CS1>95% |
FAT1 | 95.00 | 0 | NM_005245.3/ interpretable range CS1>95% |
FGA | 95.00 | 0 | NM_021871.3/ interpretable range CS1>95% |
FGF20 | 95.00 | 0 | NM_019851.2/ interpretable range CS1>95% |
FGF23 | 95.00 | 0 | NM_020638.2/ interpretable range CS1>95% |
FN1 | 95.00 | 0 | NM_212482.2/ interpretable range CS1>95% |
FOXC1 | 95.00 | 0 | NM_001453.2/ interpretable range CS1>95% |
FOXC2 | 95.00 | 0 | NM_005251.2/ interpretable range CS1>95% |
FOXI1 | 95.00 | 0 | NM_012188.4/ interpretable range CS1>95% |
FRAS1 | 95.00 | 0 | NM_025074.6/ interpretable range CS1>95% |
FREM1 | 95.00 | 0 | NM_144966.5/ interpretable range CS1>95% |
FREM2 | 95.00 | 0 | NM_207361.5/ interpretable range CS1>95% |
FXYD2 | 95.00 | 0 | NM_001680.4/ interpretable range CS1>95% |
GANAB | 95.00 | 0 | NM_198335.3/ interpretable range CS1>95% |
GATA3 | 95.00 | 0 | NM_001002295.1/ interpretable range CS1>95% |
GATM | 95.00 | 0 | NM_001482.2/ interpretable range CS1>95% |
GDNF | 95.00 | 0 | NM_000514.3/ interpretable range CS1>95% |
GLA | 95.00 | 0 | NM_000169.2/ interpretable range CS1>95% |
GLIS2 | 95.00 | 0 | NM_032575.2/ interpretable range CS1>95% |
GNA11 | 95.00 | 0 | NM_002067.4/ interpretable range CS1>95% |
GREB1L | 95.00 | 0 | NM_001142966.2/ interpretable range CS1>95% |
GRHPR | 95.00 | 0 | NM_012203.1/ interpretable range CS1>95% |
GRIP1 | 95.00 | 0 | NM_021150.3/ interpretable range CS1>95% |
GSN | 95.00 | 0 | NM_000177.4/ interpretable range CS1>95% |
HNF1A | 95.00 | 0 | NM_000545.6/ interpretable range CS1>95% |
HNF1B | 95.00 | 0 | NM_000458.3/ interpretable range CS1>95% |
HNF4A | 95.00 | 0 | NM_175914.4/ interpretable range CS1>95% |
HOGA1 | 95.00 | 0 | NM_138413.3/ interpretable range CS1>95% |
HOXA13 | 95.00 | 0 | NM_000522.4/ interpretable range CS1>95% |
HPRT1 | 95.00 | 0 | NM_000194.2/ interpretable range CS1>95% |
HPSE2 | 95.00 | 0 | NM_021828.4/ interpretable range CS1>95% |
HSD11B2 | 95.00 | 0 | NM_000196.3/ interpretable range CS1>95% |
IFT81 | 95.00 | 0 | NM_014055.3/ interpretable range CS1>95% |
INF2 | 95.00 | 0 | NM_022489.3/ interpretable range CS1>95% |
INVS | 95.00 | 0 | NM_014425.4/ interpretable range CS1>95% |
ITGA8 | 95.00 | 0 | NM_003638.2/ interpretable range CS1>95% |
ITSN1 | 95.00 | 0 | NM_003024.2/ interpretable range CS1>95% |
ITSN2 | 95.00 | 0 | NM_147152.2/ interpretable range CS1>95% |
JAG1 | 95.00 | 0 | NM_000214.2/ interpretable range CS1>95% |
KANK2 | 95.00 | 0 | NM_001136191.2/ interpretable range CS1>95% |
KCNA1 | 95.00 | 0 | NM_000217.2/ interpretable range CS1>95% |
KCNJ1 | 95.00 | 0 | NM_000220.4/ interpretable range CS1>95% |
KCNJ10 | 95.00 | 0 | NM_002241.4/ interpretable range CS1>95% |
KCNJ5 | 95.00 | 0 | NM_000890.4/ interpretable range CS1>95% |
KL | 95.00 | 0 | NM_004795.3/ interpretable range CS1>95% |
KLHL3 | 95.00 | 0 | NM_017415.2/ interpretable range CS1>95% |
LAMB2 | 95.00 | 0 | NM_002292.3/ interpretable range CS1>95% |
LCAT | 95.00 | 0 | NM_000229.1/ interpretable range CS1>95% |
LDHD | 95.00 | 0 | NM_153486.3/ interpretable range CS1>95% |
LHX1 | 95.00 | 0 | NM_005568.4/ interpretable range CS1>95% |
LMX1B | 95.00 | 0 | NM_002316.3/ interpretable range CS1>95% |
LRIG2 | 95.00 | 0 | NM_014813.2/ interpretable range CS1>95% |
LRP2 | 95.00 | 0 | NM_004525.2/ interpretable range CS1>95% |
LYZ | 95.00 | 0 | NM_000239.2/ interpretable range CS1>95% |
MAGED2 | 95.00 | 0 | NM_177433.2/ interpretable range CS1>95% |
MAGI2 | 95.00 | 0 | NM_012301.3/ interpretable range CS1>95% |
MAPKBP1 | 95.00 | 0 | NM_001128608.1/ interpretable range CS1>95% |
MMACHC | 95.00 | 0 | NM_015506.2/ interpretable range CS1>95% |
MOCOS | 95.00 | 0 | NM_017947.3/ interpretable range CS1>95% |
MUC1 | 95.00 | 0 | NM_002456.5/ interpretable range CS1>95% |
MYH11 | 95.00 | 0 | NM_002474.2/ interpretable range CS1>95% |
MYH9 | 95.00 | 0 | NM_002473.5/ interpretable range CS1>95% |
MYO1E | 95.00 | 0 | NM_004998.3/ interpretable range CS1>95% |
MYOCD | 95.00 | 0 | NM_001146312.2/ interpretable range CS1>95% |
NEK9 | 95.00 | 0 | NM_178170.2/ interpretable range CS1>95% |
NLRP3 | 95.00 | 0 | NM_000490.4/ interpretable range CS1>95% |
NOTCH2 | 95.00 | 0 | NM_024408.3/ interpretable range CS1>95% |
NPHP1 | 95.00 | 0 | NM_000272.3/ interpretable range CS1>95% |
NPHP3 | 95.00 | 0 | NM_153240.4/ interpretable range CS1>95% |
NPHP4 | 95.00 | 0 | NM_015102.4/ interpretable range CS1>95% |
NPHS1 | 95.00 | 0 | NM_004646.3/ interpretable range CS1>95% |
NPHS2 | 95.00 | 0 | NM_014625.3/ interpretable range CS1>95% |
NR3C1 | 95.00 | 0 | NM_001018077.1/ interpretable range CS1>95% |
NR3C2 | 95.00 | 0 | NM_000901.4/ interpretable range CS1>95% |
NUP107 | 95.00 | 0 | NM_020401.3/ interpretable range CS1>95% |
NUP133 | 95.00 | 0 | NM_018230.2/ interpretable range CS1>95% |
NUP160 | 95.00 | 0 | NM_015231.2/ interpretable range CS1>95% |
NUP85 | 95.00 | 0 | NM_024844.4/ interpretable range CS1>95% |
NUP93 | 95.00 | 0 | NM_014669.4/ interpretable range CS1>95% |
OCRL | 95.00 | 0 | NM_000276.3/ interpretable range CS1>95% |
OFD1 | 95.00 | 0 | NM_003611.2/ interpretable range CS1>95% |
PAX2 | 95.00 | 0 | NM_003987.4/ interpretable range CS1>95% |
PBX1 | 95.00 | 0 | NM_002585.3/ interpretable range CS1>95% |
PCBD1 | 95.00 | 0 | NM_000281.3/ interpretable range CS1>95% |
PHEX | 95.00 | 0 | NM_000444.5/ interpretable range CS1>95% |
PKD1 | 95.00 | 0 | NM_001009944.2/ interpretable range CS1>95% |
PKD2 | 95.00 | 0 | NM_000297.3/ interpretable range CS1>95% |
PKHD1 | 95.00 | 0 | NM_138694.3/ interpretable range CS1>95% |
PLCE1 | 95.00 | 0 | NM_016341.3/ interpretable range CS1>95% |
PODXL | 95.00 | 0 | NM_005397.3/ interpretable range CS1>95% |
PRPS1 | 95.00 | 0 | NM_002764.3/ interpretable range CS1>95% |
REN | 95.00 | 0 | NM_000537.3/ interpretable range CS1>95% |
RET | 95.00 | 0 | NM_020975.5/ interpretable range CS1>95% |
ROBO2 | 95.00 | 0 | NM_002942.4/ interpretable range CS1>95% |
SALL1 | 95.00 | 0 | NM_002968.2/ interpretable range CS1>95% |
SARS2 | 95.00 | 0 | NM_017827.3/ interpretable range CS1>95% |
SCARB2 | 95.00 | 0 | NM_005506.3/ interpretable range CS1>95% |
SCNN1A | 95.00 | 0 | NM_001038.5/ interpretable range CS1>95% |
SCNN1B | 95.00 | 0 | NM_000336.2/ interpretable range CS1>95% |
SCNN1G | 95.00 | 0 | NM_001039.3/ interpretable range CS1>95% |
SDCCAG8 | 95.00 | 0 | NM_006642.4/ interpretable range CS1>95% |
SEC61A1 | 95.00 | 0 | NM_013336.3/ interpretable range CS1>95% |
SGPL1 | 95.00 | 0 | NM_003901.3/ interpretable range CS1>95% |
SIX1 | 95.00 | 0 | NM_005982.3/ interpretable range CS1>95% |
SIX5 | 95.00 | 0 | NM_175875.4/ interpretable range CS1>95% |
SLC12A1 | 95.00 | 0 | NM_000338.2/ interpretable range CS1>95% |
SLC12A3 | 95.00 | 0 | NM_000339.2/ interpretable range CS1>95% |
SLC22A12 | 95.00 | 0 | NM_144585.3/ interpretable range CS1>95% |
SLC2A2 | 95.00 | 0 | NM_000340.1/ interpretable range CS1>95% |
SLC2A9 | 95.00 | 0 | NM_020041.2/ interpretable range CS1>95% |
SLC34A1 | 95.00 | 0 | NM_003052.4/ interpretable range CS1>95% |
SLC34A3 | 95.00 | 0 | NM_080877.2/ interpretable range CS1>95% |
SLC3A1 | 95.00 | 0 | NM_000341.3/ interpretable range CS1>95% |
SLC4A1 | 95.00 | 0 | NM_000342.3/ interpretable range CS1>95% |
SLC4A4 | 95.00 | 0 | NM_003759.3/ interpretable range CS1>95% |
SLC5A2 | 95.00 | 0 | NM_003041.3/ interpretable range CS1>95% |
SLC7A9 | 95.00 | 0 | NM_014270.4/ interpretable range CS1>95% |
SMARCAL1 | 95.00 | 0 | NM_014140.3/ interpretable range CS1>95% |
TBC1D8B | 95.00 | 0 | NM_017752.2/ interpretable range CS1>95% |
TBX18 | 95.00 | 0 | NM_001080508.2/ interpretable range CS1>95% |
THBD | 95.00 | 0 | NM_000361.2/ interpretable range CS1>95% |
TNS2 | 95.00 | 0 | NM_015319.2/ interpretable range CS1>95% |
TRAF3IP1 | 95.00 | 0 | NM_015650.3/ interpretable range CS1>95% |
TRAP1 | 95.00 | 0 | NM_016292.2/ interpretable range CS1>95% |
TRPC6 | 95.00 | 0 | NM_004621.5/ interpretable range CS1>95% |
TRPM6 | 95.00 | 0 | NM_017662.4/ interpretable range CS1>95% |
TSC1 | 95.00 | 0 | NM_000368.4/ interpretable range CS1>95% |
TSC2 | 95.00 | 0 | NM_000548.4/ interpretable range CS1>95% |
TTC21B | 95.00 | 0 | NM_024753.4/ interpretable range CS1>95% |
TTR | 95.00 | 0 | NM_000371.3/ interpretable range CS1>95% |
UMOD | 95.00 | 0 | NM_003361.3/ interpretable range CS1>95% |
VHL | 95.00 | 0 | NM_000551.3/ interpretable range CS1>95% |
WDR19 | 95.00 | 0 | NM_025132.3/ interpretable range CS1>95% |
WDR72 | 95.00 | 0 | NM_182758.3/ interpretable range CS1>95% |
WFS1 | 95.00 | 0 | NM_006005.3/ interpretable range CS1>95% |
WNK1 | 95.00 | 0 | NM_018979.3/ interpretable range CS1>95% |
WNK4 | 95.00 | 0 | NM_032387.4/ interpretable range CS1>95% |
WNT4 | 95.00 | 0 | NM_030761.4/ interpretable range CS1>95% |
WT1 | 95.00 | 0 | NM_024426.5/ interpretable range CS1>95% |
XDH | 95.00 | 0 | NM_000379.3/ interpretable range CS1>95% |
XPNPEP3 | 95.00 | 0 | NM_022098.3/ interpretable range CS1>95% |