Dyskeratosis Congenita (18 genes) - KUL
Full name: |
Dyskeratosis Congenita (18 genes) - KUL
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Version number: |
v6_102022
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Laboratory: | |
Created: |
28 Jun 2019 - 10:42
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Changed: |
28 Jul 2023 - 14:49
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Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ACD | 95.00 | 0 | NM_001082486.1/ interpretable range CS1>95% |
CTC1 | 95.00 | 0 | NM_025099.5/ interpretable range CS1>95% |
DKC1 | 95.00 | 0 | NM_001363.4/ interpretable range CS1>95% |
GRHL2 | 95.00 | 0 | NM_024915.3/ interpretable range CS1>95% |
LIG4 | 95.00 | 0 | NM_002312.3/ interpretable range CS1>95% |
NAF1 | 95.00 | 0 | NM_138386.3/ interpretable range CS1>95% |
NHP2 | 95.00 | 0 | NM_017838.3/ interpretable range CS1>95% |
NOP10 | 95.00 | 0 | NM_018648.3/ interpretable range CS1>95% |
PARN | 95.00 | 0 | NM_002582.3/ interpretable range CS1>95% |
POT1 | 95.00 | 0 | NM_015450.2/ interpretable range CS1>95% |
RTEL1 | 95.00 | 0 | NM_032957.4/ interpretable range CS1>95% |
STN1 | 95.00 | 0 | NM_024928.4/ interpretable range CS1>95% |
TERC | 95.00 | 0 | NR_001566.1/ interpretable range CS1>95% |
TERT | 95.00 | 0 | NM_198253.2/ interpretable range CS1>90% |
TINF2 | 95.00 | 0 | NM_001099274.1/ interpretable range CS1>95% |
TNIP1 | 95.00 | 0 | NM_138386.2/ interpretable range CS1>95% |
USB1 | 95.00 | 0 | NM_024598.3/ interpretable range CS1>95% |
WRAP53 | 95.00 | 0 | NM_018081.2/ interpretable range CS1>95% |