chILD (35 genes) - KUL
Full name: |
chILD (35 genes) - KUL
|
Version number: |
chILD_v4
|
Laboratory: | |
Created: |
15 Dec 2020 - 17:27
|
Changed: |
16 Apr 2024 - 09:31
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Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ABCA3 | 95.00 | 0 | NM_001089.3 / interpretable range CS1>95% |
AGR2 | 95.00 | 0 | NM_006408.4/interpretable range CS1>95% |
AP3B1 | 95.00 | 0 | NM_003664.5/ interpretable range CS1>95% |
AP3D1 | 95.00 | 0 | NM_001261826.3/ interpretable range CS1>95% |
BLOC1S3 | 95.00 | 0 | NM_212550.5/ interpretable range CS1>95% |
BLOC1S5 | 95.00 | 0 | NM_201280.3/ interpretable range CS1>95% |
BLOC1S6 | 95.00 | 0 | NM_012388.4/ interpretable range CS1>95% |
COPA | 95.00 | 0 | NM_004371.4/ interpretable range CS1>95% |
CSF2RA | 95.00 | 0 | NM_006140.6/ interpretable range CS1>95% |
CSF2RB | 95.00 | 0 | NM_000395.3/ interpretable range CS1>95% |
DTNBP1 | 95.00 | 0 | NM_032122.5/ interpretable range CS1>95% |
FLNA | 95.00 | 0 | NM_001456.4/ interpretable range CS1>95% |
FOXF1 | 95.00 | 0 | NM_001451.3/ interpretable range CS1>95% |
GATA2 | 95.00 | 0 | NM_032638.5/ interpretable range CS1>95% |
HPS1 | 95.00 | 0 | NM_000195.5/ interpretable range CS1>95% |
HPS3 | 95.00 | 0 | NM_022081.6/ interpretable range CS1>95% |
HPS4 | 95.00 | 0 | NM_022081.6/ interpretable range CS1>95% |
HPS5 | 95.00 | 0 | NM_181507.2/ interpretable range CS1>95% |
HPS6 | 95.00 | 0 | NM_024747.6/ interpretable range CS1>95% |
MARS1 | 95.00 | 0 | NM_004990.4/ interpretable range CS1>95% |
MUC5B | 95.00 | 0 | NM_002458.3/ interpretable range CS1>95% |
NKX2-1 | 95.00 | 0 | NM_001079668.3/ interpretable range CS1>95% |
PARN | 95.00 | 0 | NM_002582.4/ interpretable range CS1>95% |
RAB5B | 95.00 | 0 | NM_002868.4/ interpretable range CS1>95% |
RTEL1 | 95.00 | 0 | NM_032957.5/ interpretable range CS1>95% |
SFTPA1 | 95.00 | 0 | NM_005411.5/ interpretable range CS1>95% |
SFTPA2 | 95.00 | 0 | NM_001098668.4/ interpretable range CS1>95% |
SFTPB | 95.00 | 0 | NM_198843.3/ interpretable range CS1>95% |
SFTPC | 95.00 | 0 | NM_003018.4/ interpretable range CS1>95% |
SLC34A2 | 95.00 | 0 | NM_006424.3/ interpretable range CS1>95% |
SLC7A7 | 95.00 | 0 | NM_001126106.4/ interpretable range CS1>95% |
STING1 | 95.00 | 0 | NM_198282.4/ interpretable range CS1>95% |
TBX4 | 95.00 | 0 | NM_018488.3/ interpretable range CS1>95% |
TERC | 95.00 | 0 | NR_001566.1/ interpretable range CS1>95% |
TERT | 95.00 | 0 | NM_198253.3/ interpretable range CS1>95% |