Nephropathies, hereditary (219 genes) - KUL
Full name: |
Nephropathies, hereditary (219 genes) - KUL
|
Description: |
https://firebasestorage.googleapis.com/v0/b/uz-laboboeken.appspot.com/o/GHB_CME%2FNefro%20-%20NGS%20-%20full%20panel.pdf?alt=media&token=e2ca0253-44f6-4107-b086-2c1d6236ddce
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Version number: |
Nefro_full_v5
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Laboratory: | |
Created: |
03 Jul 2019 - 09:27
|
Changed: |
07 Aug 2023 - 12:41
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ACE | 95.00 | 0 | NM_000789.4 |
ACTN4 | 95.00 | 0 | NM_004924.6 |
AGT | 95.00 | 0 | NM_001384479.1 |
AGTR1 | 95.00 | 0 | NM_031850.4 |
AGXT | 95.00 | 0 | NM_000030.3 |
ALG5 | 95.00 | 0 | NM_013338.5 |
ALG8 | 95.00 | 0 | NM_024079.5 |
ALG9 | 95.00 | 0 | NM_024740.2 |
AMN | 95.00 | 0 | NM_030943.4 |
ANKS6 | 95.00 | 0 | NM_173551.5 |
ANLN | 95.00 | 0 | NM_018685.5 |
ANOS1 | 95.00 | 0 | NM_000216.4 |
AP2S1 | 95.00 | 0 | NM_004069.6 |
APOA1 | 95.00 | 0 | NM_000039.3 |
APOA2 | 95.00 | 0 | NM_001643.2 |
APOC2 | 95.00 | 0 | NM_000483.5 |
APOE | 95.00 | 0 | NM_000041.4 |
APOL1 | 95.00 | 0 | NM_003661.4 |
APRT | 95.00 | 0 | NM_000485.3 |
ARHGAP24 | 95.00 | 0 | NM_001025616.3 |
ARHGDIA | 95.00 | 0 | NM_001185077.3 |
ATP6V0A4 | 95.00 | 0 | NM_020632.3 |
ATP6V1B1 | 95.00 | 0 | NM_001692.4 |
BMP4 | 95.00 | 0 | NM_001202.6 |
BNC2 | 95.00 | 0 | NM_017637.6 |
BSND | 95.00 | 0 | NM_057176.3 |
C3 | 95.00 | 0 | NM_000064.4 |
CA2 | 95.00 | 0 | NM_000067.3 |
CACNA1D | 95.00 | 0 | NM_000720.4 |
CACNA1H | 95.00 | 0 | NM_021098.3 |
CASR | 95.00 | 0 | NM_000388.4 |
CD2AP | 95.00 | 0 | NM_012120.3 |
CD46 | 95.00 | 0 | NM_002389.4 |
CDC73 | 95.00 | 0 | NM_024529.5 |
CDK20 | 95.00 | 0 | NM_001039803.3 |
CEP164 | 95.00 | 0 | NM_014956.5 |
CEP290 | 95.00 | 0 | NM_025114.4 |
CEP83 | 95.00 | 0 | NM_016122.3 |
CFB | 95.00 | 0 | NM_001710.6 |
CFH | 95.00 | 0 | NM_000186.4 |
CFHR1 | 95.00 | 0 | NM_002113.3 |
CFHR3 | 95.00 | 0 | NM_021023.6 |
CFHR5 | 95.00 | 0 | NM_030787.4 |
CFI | 95.00 | 0 | NM_000204.5 |
CLCN2 | 95.00 | 0 | NM_004366.6 |
CLCN5 | 95.00 | 0 | NM_000084.5 |
CLCNKA | 95.00 | 0 | NM_004070.4 |
CLCNKB | 95.00 | 0 | NM_000085.5 |
CLDN10 | 95.00 | 0 | NM_006984.5 |
CLDN16 | 95.00 | 0 | NM_006580.4 |
CLDN19 | 95.00 | 0 | NM_148960.3 |
CNNM2 | 95.00 | 0 | NM_017649.5 |
COL4A1 | 95.00 | 0 | NM_001845.6 |
COL4A3 | 95.00 | 0 | NM_000091.5 |
COL4A4 | 95.00 | 0 | NM_000092.5 |
COL4A5 | 95.00 | 0 | NM_000495.5 |
COQ2 | 95.00 | 0 | NM_015697.9 |
COQ6 | 95.00 | 0 | NM_182476.3 |
COQ8B | 95.00 | 0 | NM_024876.4 |
CRB2 | 95.00 | 0 | NM_173689.7 |
CTNS | 95.00 | 0 | NM_004937.3 |
CUBN | 95.00 | 0 | NM_001081.4 |
CUL3 | 95.00 | 0 | NM_003590.5 |
CYP11B1 | 95.00 | 0 | NM_000497.4 |
CYP11B2 | 95.00 | 0 | NM_000498.3 |
CYP17A1 | 95.00 | 0 | NM_000102.4 |
CYP24A1 | 95.00 | 0 | NM_000782.5 |
DAAM2 | 95.00 | 0 | NM_001201427.2 |
DGKE | 95.00 | 0 | NM_003647.3 |
DLEC1 | 95.00 | 0 | NM_182643.3 |
DNAJB11 | 95.00 | 0 | NM_016306.6 |
DSTYK | 95.00 | 0 | NM_015375.3 |
DZIP1L | 95.00 | 0 | NM_173543.3 |
EGF | 95.00 | 0 | NM_001963.6 |
EHHADH | 95.00 | 0 | NM_001966.4 |
EMP2 | 95.00 | 0 | NM_001424.6 |
EYA1 | 95.00 | 0 | NM_000503.6 |
FAM20A | 95.00 | 0 | NM_017565.4 |
FAN1 | 95.00 | 0 | NM_014967.5 |
FAT1 | 95.00 | 0 | NM_005245.4 |
FGA | 95.00 | 0 | NM_021871.4 |
FGF20 | 95.00 | 0 | NM_019851.3 |
FGF23 | 95.00 | 0 | NM_020638.3 |
FN1 | 95.00 | 0 | NM_212482.4 |
FOXC1 | 95.00 | 0 | NM_001453.3 |
FOXC2 | 95.00 | 0 | NM_005251.3 |
FOXI1 | 95.00 | 0 | NM_012188.5 |
FXYD2 | 95.00 | 0 | NM_001680.5 |
GANAB | 95.00 | 0 | NM_198335.4 |
GATA3 | 95.00 | 0 | NM_001002295.2 |
GATM | 95.00 | 0 | NM_001482.3 |
GDNF | 95.00 | 0 | NM_000514.4 |
GLA | 95.00 | 0 | NM_000169.3 |
GLIS2 | 95.00 | 0 | NM_032575.3 |
GNA11 | 95.00 | 0 | NM_002067.5 |
GREB1L | 95.00 | 0 | NM_001142966.3 |
GRHPR | 95.00 | 0 | NM_012203.2 |
GRIP1 | 95.00 | 0 | NM_021150.4 |
GSN | 95.00 | 0 | NM_000177.5 |
HNF1A | 95.00 | 0 | NM_000545.8 |
HNF1B | 95.00 | 0 | NM_000458.4 |
HNF4A | 95.00 | 0 | NM_175914.5 |
HOGA1 | 95.00 | 0 | NM_138413.4 |
HOXA13 | 95.00 | 0 | NM_000522.5 |
HPRT1 | 95.00 | 0 | NM_000194.3 |
HSD11B2 | 95.00 | 0 | NM_000196.4 |
IFT140 | 95.00 | 0 | NM_014714.4 |
IFT81 | 95.00 | 0 | NM_014055.4 |
INF2 | 95.00 | 0 | NM_022489.4 |
INVS | 95.00 | 0 | NM_014425.5 |
ITGA8 | 95.00 | 0 | NM_003638.3 |
ITSN1 | 95.00 | 0 | NM_003024.3 |
ITSN2 | 95.00 | 0 | NM_147152.3 |
JAG1 | 95.00 | 0 | NM_000214.3 |
KANK2 | 95.00 | 0 | NM_001136191.3 |
KCNA1 | 95.00 | 0 | NM_000217.3 |
KCNJ1 | 95.00 | 0 | NM_000220.6 |
KCNJ10 | 95.00 | 0 | NM_002241.5 |
KCNJ5 | 95.00 | 0 | NM_000890.5 |
KIRREL1 | 95.00 | 0 | NM_018240.7 |
KL | 95.00 | 0 | NM_004795.4 |
KLHL3 | 95.00 | 0 | NM_017415.3 |
LAMB2 | 95.00 | 0 | NM_002292.4 |
LCAT | 95.00 | 0 | NM_000229.2 |
LDHD | 95.00 | 0 | NM_153486.4 |
LHX1 | 95.00 | 0 | NM_005568.5 |
LIFR | 95.00 | 0 | NM_002310.6 |
LMX1B | 95.00 | 0 | NM_002316.4 |
LYZ | 95.00 | 0 | NM_000239.3 |
MAGED2 | 95.00 | 0 | NM_177433.3 |
MAGI2 | 95.00 | 0 | NM_012301.4 |
MAPKBP1 | 95.00 | 0 | NM_001128608.2 |
MMACHC | 95.00 | 0 | NM_015506.3 |
MOCOS | 95.00 | 0 | NM_017947.4 |
MTX2 | 95.00 | 0 | NM_006554.5 |
MUC1 | 95.00 | 0 | NM_002456.6 |
MYH9 | 95.00 | 0 | NM_002473.6 |
MYO1E | 95.00 | 0 | NM_004998.4 |
NEK8 | 95.00 | 0 | NM_178170.3 |
NOTCH2 | 95.00 | 0 | NM_024408.4 |
NPHP1 | 95.00 | 0 | NM_000272.5 |
NPHP3 | 95.00 | 0 | NM_153240.5 |
NPHP4 | 95.00 | 0 | NM_015102.5 |
NPHS1 | 95.00 | 0 | NM_004646.4 |
NPHS2 | 95.00 | 0 | NM_014625.4 |
NR3C1 | 95.00 | 0 | NM_001018077.1 |
NR3C2 | 95.00 | 0 | NM_000901.5 |
NUP107 | 95.00 | 0 | NM_020401.4 |
NUP133 | 95.00 | 0 | NM_018230.3 |
NUP160 | 95.00 | 0 | NM_015231.3 |
NUP85 | 95.00 | 0 | NM_024844.5 |
NUP93 | 95.00 | 0 | NM_014669.5 |
OCRL | 95.00 | 0 | NM_000276.4 |
OFD1 | 95.00 | 0 | NM_003611.3 |
PAX2 | 95.00 | 0 | NM_003987.5 |
PBX1 | 95.00 | 0 | NM_002585.4 |
PCBD1 | 95.00 | 0 | NM_000281.4 |
PDSS2 | 95.00 | 0 | NM_020381.4 |
PHEX | 95.00 | 0 | NM_000444.6 |
PKD1 | 95.00 | 0 | NM_001009944.3 |
PKD2 | 95.00 | 0 | NM_000297.4 |
PKHD1 | 95.00 | 0 | NM_138694.4 |
PLCE1 | 95.00 | 0 | NM_016341.4 |
PODXL | 95.00 | 0 | NM_005397.4 |
PRPS1 | 95.00 | 0 | NM_002764.4 |
PTPRO | 95.00 | 0 | NM_030667.3 |
REN | 95.00 | 0 | NM_000537.4 |
RET | 95.00 | 0 | NM_020975.6 |
ROBO2 | 95.00 | 0 | NM_002942.5 |
SALL1 | 95.00 | 0 | NM_002968.3 |
SARS2 | 95.00 | 0 | NM_017827.4 |
SCARB2 | 95.00 | 0 | NM_005506.4 |
SCNN1A | 95.00 | 0 | NM_001038.6 |
SCNN1B | 95.00 | 0 | NM_000336.3 |
SCNN1G | 95.00 | 0 | NM_001039.4 |
SDCCAG8 | 95.00 | 0 | NM_006642.5 |
SEC61A1 | 95.00 | 0 | NM_013336.4 |
SGPL1 | 95.00 | 0 | NM_003901.4 |
SIX1 | 95.00 | 0 | NM_005982.4 |
SIX5 | 95.00 | 0 | NM_175875.5 |
SLC12A1 | 95.00 | 0 | NM_000338.3 |
SLC12A3 | 95.00 | 0 | NM_000339.3 |
SLC22A12 | 95.00 | 0 | NM_144585.4 |
SLC26A1 | 95.00 | 0 | NM_213613.4 |
SLC2A2 | 95.00 | 0 | NM_000340.2 |
SLC2A9 | 95.00 | 0 | NM_020041.3 |
SLC34A1 | 95.00 | 0 | NM_003052.5 |
SLC34A3 | 95.00 | 0 | NM_080877.3 |
SLC3A1 | 95.00 | 0 | NM_000341.4 |
SLC4A1 | 95.00 | 0 | NM_000342.4 |
SLC4A4 | 95.00 | 0 | NM_003759.4 |
SLC5A2 | 95.00 | 0 | NM_003041.4 |
SLC7A9 | 95.00 | 0 | NM_014270.5 |
SLIT2 | 95.00 | 0 | NM_004787.4 |
SMARCAL1 | 95.00 | 0 | NM_014140.4 |
TBC1D1 | 95.00 | 0 | NM_015173.4 |
TBC1D8B | 95.00 | 0 | NM_017752.3 |
TBX18 | 95.00 | 0 | NM_001080508.3 |
TNS2 | 95.00 | 0 | NM_015319.2 |
TRAF3IP1 | 95.00 | 0 | NM_015650.4 |
TRAP1 | 95.00 | 0 | NM_016292.3 |
TRIM8 | 95.00 | 0 | NM_030912.3 |
TRPC6 | 95.00 | 0 | NM_004621.6 |
TRPM6 | 95.00 | 0 | NM_017662.5 |
TSC1 | 95.00 | 0 | NM_000368.5 |
TSC2 | 95.00 | 0 | NM_000548.5 |
TTC21B | 95.00 | 0 | NM_024753.5 |
TTR | 95.00 | 0 | NM_000371.4 |
UMOD | 95.00 | 0 | NM_003361.4 |
VHL | 95.00 | 0 | NM_000551.4 |
WDR19 | 95.00 | 0 | NM_025132.4 |
WDR72 | 95.00 | 0 | NM_182758.4 |
WFS1 | 95.00 | 0 | NM_006005.3 |
WNK1 | 95.00 | 0 | NM_018979.4 |
WNK4 | 95.00 | 0 | NM_032387.5 |
WNT4 | 95.00 | 0 | NM_030761.5 |
WT1 | 95.00 | 0 | NM_024426.6 |
XDH | 95.00 | 0 | NM_000379.4 |
XPNPEP3 | 95.00 | 0 | NM_022098.4 |