Respiratory Disorders panel (137 genes) - Ugent

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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