Epidermolysis bullosa and bladder diseases (60 genes) - KUL

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Full name:
Epidermolysis bullosa and bladder diseases (60 genes) - KUL
Version number:
v8_102022
Laboratory:
Created:
28 Jun 2019 - 14:08
Changed:
28 Jul 2023 - 15:08
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ADAMTS2 95.00 0 NM_014244.5/ interpretable range CS1>95%
ATP2A2 95.00 0 NM_001681.4/ interpretable range CS1>95%
ATP2C1 95.00 0 NM_014382.5/ interpretable range CS1>95%
CAST 95.00 0 NM_001042440.5/ interpretable range CS1>95%
CD151 95.00 0 NM_004357.5/ interpretable range CS1>95%
CDSN 95.00 0 NM_001264.5/ interpretable range CS1>95%
CHST14 95.00 0 NM_130468.4/ interpretable range CS1>95%
CHST8 95.00 0 NM_001127896.2/ interpretable range CS1>95%
COL17A1 95.00 0 NM_000494.4/ interpretable range CS1>95%
COL5A1 95.00 0 NM_000093.5/ interpretable range CS1>95%
COL5A2 95.00 0 NM_000393.5/ interpretable range CS1>95%
COL7A1 95.00 0 NM_000094.4/ interpretable range CS1>95%
CSTA 95.00 0 NM_005213.4/ interpretable range CS1>95%
CSTB 95.00 0 NM_000100.4/ interpretable range CS1>95%
DSC3 95.00 0 NM_024423.4/ interpretable range CS1>95%
DSG1 95.00 0 NM_001942.4/ interpretable range CS1>95%
DSG2 95.00 0 NM_001943.5/ interpretable range CS1>95%
DSG3 95.00 0 NM_001944.3/ interpretable range CS1>95%
DSG4 95.00 0 NM_177986.5/ interpretable range CS1>95%
DSP 95.00 0 NM_004415.4/ interpretable range CS1>95%
DST 95.00 0 NM_001723.7/ interpretable range CS1>95%
EXPH5 95.00 0 NM_015065.3/ interpretable range CS1>95%
FERMT1 95.00 0 NM_017671.5/ interpretable range CS1>95%
FLG2 95.00 0 NM_001014342.3/ interpretable range CS1>95%
GJB2 95.00 0 NM_004004.6/ interpretable range CS1>95%
GRIP1 95.00 0 NM_021150.4/ interpretable range CS1>95%
IKBKG 95.00 0 NM_001099857.5/ interpretable range CS1>95%
ITGA3 95.00 0 NM_002204.4/ interpretable range CS1>95%
ITGA6 95.00 0 NM_000210.4/ interpretable range CS1>95%
ITGB4 95.00 0 NM_001005731.3/ interpretable range CS1>95%
JUP 95.00 0 NM_002230.4/ interpretable range CS1>95%
KLHL24 95.00 0 NM_017644.3/ interpretable range CS1>95%
KRT1 95.00 0 NM_006121.4/ interpretable range CS1>95%
KRT10 95.00 0 NM_000421.5/ interpretable range CS1>95%
KRT14 95.00 0 NM_000526.5/ interpretable range CS1>95%
KRT16 95.00 0 NM_005557.4/ interpretable range CS1>95%
KRT17 95.00 0 NM_000422.3/ interpretable range CS1>95%
KRT2 95.00 0 NM_000423.3/ interpretable range CS1>95%
KRT5 95.00 0 NM_000424.4/ interpretable range CS1>95%
KRT6A 95.00 0 NM_005554.4/ interpretable range CS1>95%
KRT6B 95.00 0 NM_005555.4/ interpretable range CS1>95%
KRT6C 95.00 0 NM_173086.5/ interpretable range CS1>95%
KRT9 95.00 0 NM_000226.4/ interpretable range CS1>95%
LAMA3 95.00 0 NM_000227.6/ interpretable range CS1>95%
LAMB3 95.00 0 NM_000228.3/ interpretable range CS1>95%
LAMC2 95.00 0 NM_005562.3/ interpretable range CS1>95%
MMP1 95.00 0 NM_002421.4/ interpretable range CS1>95%
NID1 95.00 0 NM_002508.3/ interpretable range CS1>95%
PKP1 95.00 0 NM_001005337.3/ interpretable range CS1>95%
PLEC 95.00 0 NM_000445.5/ interpretable range CS1>95%
PLOD3 95.00 0 NM_001084.5/ interpretable range CS1>95%
SERPINB8 95.00 0 NM_198833.2/ interpretable range CS1>95%
SLC39A4 95.00 0 NM_130849.4/ interpretable range CS1>95%
SPINK5 95.00 0 NM_006846.4/ interpretable range CS1>95%
TGM5 95.00 0 NM_201631.4/ interpretable range CS1>95%
TP63 95.00 0 NM_003722.5/ interpretable range CS1>95%
UROD 95.00 0 NM_000374.5/ interpretable range CS1>95%
UROS 95.00 0 NM_000375.3/ interpretable range CS1>95%
WNT10A 95.00 0 NM_025216.3/ interpretable range CS1>95%