Respiratory Disorders panel (137 genes) - Ugent
Full name: |
Respiratory Disorders panel (137 genes) - Ugent
|
Version number: |
v2
|
Laboratory: | |
Created: |
05 Dec 2022 - 14:27
|
Changed: |
21 Dec 2022 - 14:45
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ABCA3 | 99.96 | 1 | |
ABCC8 | 99.98 | 1 | |
ACVRL1 | 99.88 | 1 | |
AP3B1 | 99.89 | 1 | |
AQP1 | 99.99 | 1 | |
ARHGEF1 | 99.97 | 1 | |
ASAH1 | 99.90 | 1 | |
ASCL1 | 99.82 | 1 | |
ATP13A3 | 99.84 | 1 | |
ATP6AP1 | 100.00 | 1 | |
BDNF | 100.00 | 1 | |
BLOC1S3 | 100.00 | 1 | |
BLOC1S6 | 99.98 | 1 | |
BMP10 | 99.96 | 1 | |
BMPR1B | 99.61 | 1 | |
BMPR2 | 99.95 | 1 | |
CARD11 | 99.97 | 1 | |
CAV1 | 99.97 | 1 | |
CCDC39 | 99.74 | 1 | |
CCDC40 | 100.00 | 1 | |
CD19 | 99.98 | 1 | |
CD81 | 99.97 | 1 | |
CIITA | 99.99 | 1 | |
CLEC1A | 99.97 | 1 | |
CLEC7A | 99.98 | 1 | |
COPA | 99.61 | 1 | |
CR2 | 99.97 | 1 | |
CSF2RA | 93.86 | 1 | |
CSF2RB | 100.00 | 1 | |
CTLA4 | 99.99 | 1 | |
CTNNBL1 | 100.00 | 1 | |
DKC1 | 99.59 | 1 | |
DNAAF1 | 99.99 | 1 | |
DNAAF2 | 99.91 | 1 | |
DNAH11 | 99.93 | 1 | |
DNAH5 | 99.98 | 1 | |
DNAH9 | 99.79 | 1 | |
DNAI1 | 99.92 | 1 | |
DNAI2 | 99.86 | 1 | |
DOCK8 | 99.86 | 1 | |
DTNBP1 | 99.89 | 1 | |
EFEMP2 | 99.94 | 1 | |
EIF2AK4 | 99.97 | 1 | |
ELMOD2 | 99.80 | 1 | |
ELN | 99.86 | 1 | |
ENG | 100.00 | 1 | |
ERBIN | 99.69 | 1 | |
FAM111B | 99.98 | 1 | |
FARSA | 100.00 | 1 | |
FARSB | 99.64 | 1 | |
FBLN5 | 100.00 | 1 | |
FLNA | 99.99 | 1 | |
FNIP1 | 99.87 | 1 | |
FOXF1 | 99.99 | 1 | |
FOXP3 | 99.93 | 1 | |
GARS1 | 99.93 | 1 | |
GATA2 | 99.99 | 1 | |
GBA1 | 96.92 | 1 | |
GDF2 | 100.00 | 1 | |
HPS1 | 100.00 | 1 | |
HPS3 | 99.91 | 1 | |
HPS4 | 99.98 | 1 | |
HPS5 | 99.91 | 1 | |
HPS6 | 100.00 | 1 | |
IKZF1 | 99.92 | 1 | |
IL6R | 92.46 | 1 | |
IL6ST | 99.88 | 1 | |
IRF2BP2 | 100.00 | 1 | |
ITCH | 95.57 | 1 | |
ITGA3 | 99.86 | 1 | |
KCNA5 | 100.00 | 1 | |
KCNK3 | 100.00 | 1 | |
KDR | 99.86 | 1 | |
LRBA | 99.76 | 1 | |
LTBP4 | 99.99 | 1 | |
MARS1 | 99.97 | 1 | |
MOGS | 100.00 | 1 | |
MS4A1 | 99.60 | 1 | |
MUC5B | 99.94 | 1 | |
NFKB1 | 99.80 | 1 | |
NFKB2 | 99.98 | 1 | |
NKX2-1 | 100.00 | 1 | |
NME8 | 99.83 | 1 | |
NOD2 | 99.98 | 1 | |
NOTCH3 | 99.99 | 1 | |
NSMCE3 | 100.00 | 1 | |
OAS1 | 99.96 | 1 | |
PARN | 99.75 | 1 | |
PGM3 | 99.94 | 1 | |
PIK3CD | 99.99 | 1 | |
PIK3CG | 99.72 | 1 | |
PIK3R1 | 99.86 | 1 | |
POU2AF1 | 99.43 | 1 | |
PTEN | 99.89 | 1 | |
RAC2 | 99.99 | 1 | |
RFX5 | 99.88 | 1 | |
RFXANK | 100.00 | 1 | |
RFXAP | 99.98 | 1 | |
RGPD4 | 71.96 | 1 | |
RSPH4A | 99.95 | 1 | |
RSPH9 | 99.99 | 1 | |
RTEL1 | 100.00 | 1 | |
SCNN1A | 100.00 | 1 | |
SCNN1B | 99.38 | 1 | |
SCNN1G | 99.94 | 1 | |
SEC61A1 | 99.99 | 1 | |
SERPINA1 | 100.00 | 1 | |
SFTPA1 | 99.99 | 1 | |
SFTPA2 | 99.81 | 1 | |
SFTPB | 99.99 | 1 | |
SFTPC | 99.99 | 1 | |
SFTPD | 99.62 | 1 | |
SH3KBP1 | 99.95 | 1 | |
SLC34A2 | 99.99 | 1 | |
SLC7A7 | 99.99 | 1 | |
SMAD4 | 99.97 | 1 | |
SMAD9 | 99.99 | 1 | |
SMPD1 | 100.00 | 1 | |
SOX17 | 100.00 | 1 | |
SPINK5 | 99.91 | 1 | |
STAT3 | 99.97 | 1 | |
STAT5B | 99.50 | 1 | |
STING1 | 99.87 | 1 | |
TBX4 | 99.96 | 1 | |
TERC | 98.59 | 1 | |
TERT | 100.00 | 1 | |
TGFBR1 | 99.94 | 1 | |
TGFBR2 | 99.98 | 1 | |
TINF2 | 100.00 | 1 | |
TNFRSF13B | 99.43 | 1 | |
TNFRSF13C | 99.99 | 1 | |
TNFSF12 | 100.00 | 1 | |
TNFSF13 | 100.00 | 1 | |
TRNT1 | 99.97 | 1 | |
TSC1 | 99.99 | 1 | |
TSC2 | 99.98 | 1 | |
ZNF341 | 100.00 | 1 |