chILD (34 genes) - KUL

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Full name:
chILD (34 genes) - KUL
Version number:
chILD_v3
Laboratory:
Created:
15 Dec 2020 - 17:27
Changed:
26 Jul 2023 - 10:25
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%
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%