Epidermolysis bullosa and bladder diseases (60 genes) - KUL
Full name: |
Epidermolysis bullosa and bladder diseases (60 genes) - KUL
|
Version number: |
v8_102022
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Laboratory: | |
Created: |
28 Jun 2019 - 14:08
|
Changed: |
28 Jul 2023 - 15:08
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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% |