Trombosis - Hemostasis (107 genes) - KUL
Full name: |
Trombosis - Hemostasis (107 genes) - KUL
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Description: |
https://firebasestorage.googleapis.com/v0/b/uz-laboboeken.appspot.com/o/GHB_CME%2FNGS%20-%20Trombo%20-%20full%20panel.pdf?alt=media&token=20656d63-ec60-43ca-852c-e30cb1a59fb9
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Version number: |
Trombose-Hemostase_v6
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Laboratory: | |
Created: |
03 Jul 2019 - 12:29
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Changed: |
25 Jul 2023 - 12:45
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Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ABCC4 | 95.00 | 0 | NM_005845.4/ interpretable range CS1>95% |
ABCG5 | 95.00 | 0 | NM_022436.2/ interpretable range CS1>95% |
ABCG8 | 95.00 | 0 | NM_022437.2/ interpretable range CS1>95% |
ACTB | 95.00 | 0 | NM_001101.4/ interpretable range CS1>95% |
ACTN1 | 95.00 | 0 | NM_001130004.1/ interpretable range CS1>95% |
ACVRL1 | 95.00 | 0 | NM_000020.2/ interpretable range CS1>95% |
ADAMTS13 | 95.00 | 0 | NM_139025.4/ interpretable range CS1>95% |
ANKRD26 | 95.00 | 0 | NM_014915.2/ interpretable range CS1>95% |
ANO6 | 95.00 | 0 | NM_001025356.2/ interpretable range CS1>95% |
AP3B1 | 95.00 | 0 | NM_003664.4/ interpretable range CS1>95% |
AP3D1 | 95.00 | 0 | NM_001261826.1/ interpretable range CS1>95% |
ARPC1B | 95.00 | 0 | NM_005720.3/ interpretable range CS1>95% |
BLOC1S3 | 95.00 | 0 | NM_212550.3/ interpretable range CS1>95% |
BLOC1S5 | 95.00 | 0 | NM_201280.2/ interpretable range CS1>95% |
BLOC1S6 | 95.00 | 0 | NM_012388.2/ interpretable range CS1>95% |
CDC42 | 95.00 | 0 | NM_001791.3/ interpretable range CS1>95% |
CHST14 | 95.00 | 0 | NM_130468.3/ interpretable range CS1>95% |
COL1A1 | 95.00 | 0 | NM_000088.3/ interpretable range CS1>95% |
COL3A1 | 95.00 | 0 | NM_000090.3/ interpretable range CS1>95% |
COL4A1 | 95.00 | 0 | NM_001845.5/ interpretable range CS1>95% |
COL4A2 | 95.00 | 0 | NM_001846.3/ interpretable range CS1>95% |
COL5A1 | 95.00 | 0 | NM_000093.4/ interpretable range CS1>95% |
COL5A2 | 95.00 | 0 | NM_000393.3/ interpretable range CS1>95% |
CYCS | 95.00 | 0 | NM_018947.5/ interpretable range CS1>95% |
DIAPH1 | 95.00 | 0 | NM_005219.4/ interpretable range CS1>95% |
DTNBP1 | 95.00 | 0 | NM_032122.4/ interpretable range CS1>95% |
ENG | 95.00 | 0 | NM_000118.3/ interpretable range CS1>95% |
ETV6 | 95.00 | 0 | NM_001987.4/ interpretable range CS1>95% |
F10 | 95.00 | 0 | NM_000504.3/ interpretable range CS1>95% |
F11 | 95.00 | 0 | NM_000128.3/ interpretable range CS1>95% |
F12 | 95.00 | 0 | NM_000505.3/ interpretable range CS1>95% |
F13A1 | 95.00 | 0 | NM_000129.3/ interpretable range CS1>95% |
F13B | 95.00 | 0 | NM_001994.2/ interpretable range CS1>95% |
F2 | 95.00 | 0 | NM_000506.3/ interpretable range CS1>95% |
F5 | 95.00 | 0 | NM_000130.4/ interpretable range CS1>95% |
F7 | 95.00 | 0 | NM_000131.4/ interpretable range CS1>95% |
F8 | 95.00 | 0 | NM_000132.3/ interpretable range CS1>95% |
F9 | 95.00 | 0 | NM_000133.3/ interpretable range CS1>95% |
FERMT3 | 95.00 | 0 | NM_031471.5/ interpretable range CS1>95% |
FGA | 95.00 | 0 | NM_021871.2/ interpretable range CS1>95% |
FGB | 95.00 | 0 | NM_005141.4/ interpretable range CS1>95% |
FGG | 95.00 | 0 | NM_000509.4/ interpretable range CS1>95% |
FLII | 95.00 | 0 | NM_002017.4/ interpretable range CS1>95% |
FLNA | 95.00 | 0 | NM_001456.3/ interpretable range CS1>95% |
FYB1 | 95.00 | 0 | NM_001465.5/ interpretable range CS1>95% |
GATA1 | 95.00 | 0 | NM_002049.3/ interpretable range CS1>95% |
GDF2 | 95.00 | 0 | NM_016204.3/ interpretable range CS1>95% |
GFI1B | 95.00 | 0 | NM_004188.5/ interpretable range CS1>95% |
GGCX | 95.00 | 0 | NM_000821.5/ interpretable range CS1>95% |
GNE | 95.00 | 0 | NM_001128227.2/ interpretable range CS1>95% |
GP1BA | 95.00 | 0 | NM_000173.6/ interpretable range CS1>95% |
GP1BB | 95.00 | 0 | NM_000407.4/ interpretable range CS1>95% |
GP6 | 95.00 | 0 | NM_001083899.2/ interpretable range CS1>95% |
GP9 | 95.00 | 0 | NM_000174.4/ interpretable range CS1>95% |
HOXA11 | 95.00 | 0 | NM_005523.5/ interpretable range CS1>95% |
HPS1 | 95.00 | 0 | NM_000195.3/ interpretable range CS1>95% |
HPS3 | 95.00 | 0 | NM_032383.3/ interpretable range CS1>95% |
HPS4 | 95.00 | 0 | NM_022081.5/ interpretable range CS1>95% |
HPS5 | 95.00 | 0 | NM_181507.1/ interpretable range CS1>95% |
HPS6 | 95.00 | 0 | NM_024747.5/ interpretable range CS1>95% |
HRG | 95.00 | 0 | NM_000412.3/ interpretable range CS1>95% |
IKZF5 | 95.00 | 0 | NM_001271840.1/ interpretable range CS1>95% |
ITGA2B | 95.00 | 0 | NM_000419.3/ interpretable range CS1>95% |
ITGB3 | 95.00 | 0 | NM_000212.2/ interpretable range CS1>95% |
KDSR | 95.00 | 0 | NM_002035.2/ interpretable range CS1>95% |
KNG1 | 95.00 | 0 | NM_001102416.2/ interpretable range CS1>95% |
LMAN1 | 95.00 | 0 | NM_005570.3/ interpretable range CS1>95% |
LYST | 95.00 | 0 | NM_000081.3/ interpretable range CS1>95% |
MCFD2 | 95.00 | 0 | NM_139279.5/ interpretable range CS1>95% |
MECOM | 95.00 | 0 | NM_001105078.3/ interpretable range CS1>95% |
MPIG6B | 95.00 | 0 | NM_025260.3/ interpretable range CS1>95% |
MPL | 95.00 | 0 | NM_005373.2/ interpretable range CS1>95% |
MYH9 | 95.00 | 0 | NM_002473.5/ interpretable range CS1>95% |
NBEA | 95.00 | 0 | NM_015678.4/ interpretable range CS1>95% |
NBEAL2 | 95.00 | 0 | NM_015175.2/ interpretable range CS1>95% |
P2RY12 | 95.00 | 0 | NM_022788.4/ interpretable range CS1>95% |
PIGA | 95.00 | 0 | NM_002641.3/ interpretable range CS1>95% |
PLA2G4A | 95.00 | 0 | NM_024420.2/ interpretable range CS1>95% |
PLAU | 95.00 | 0 | NM_002658.3/ interpretable range CS1>95% |
PLG | 95.00 | 0 | NM_000301.3/ interpretable range CS1>95% |
PROC | 95.00 | 0 | NM_000312.3/ interpretable range CS1>95% |
PROS1 | 95.00 | 0 | NM_000313.3/ interpretable range CS1>95% |
PTGS1 | 95.00 | 0 | NM_000962.3/ interpretable range CS1>95% |
RAP1B | 95.00 | -2 | NM_015646.6/ interpretable range CS1>95% |
RASGRP2 | 95.00 | 0 | NM_153819.1/ interpretable range CS1>95% |
RBM8A | 95.00 | 0 | NM_005105.4/ interpretable range CS1>95% |
RUNX1 | 95.00 | 0 | NM_001754.4/ interpretable range CS1>95% |
SERPINC1 | 95.00 | 0 | NM_000488.3/ interpretable range CS1>95% |
SERPIND1 | 95.00 | 0 | NM_000185.3/ interpretable range CS1>95% |
SERPINE1 | 95.00 | 0 | NM_000602.4/ interpretable range CS1>95% |
SERPINF2 | 95.00 | 0 | NM_000934.3/ interpretable range CS1>95% |
SLFN14 | 95.00 | 0 | NM_001129820.1/ interpretable range CS1>95% |
SMAD4 | 95.00 | 0 | NM_005359.5/ interpretable range CS1>95% |
SRC | 95.00 | 0 | NM_005417.4/ interpretable range CS1>95% |
STIM1 | 95.00 | 0 | NM_003156.3/ interpretable range CS1>95% |
STXBP2 | 95.00 | 0 | NM_006949.3/ interpretable range CS1>95% |
TBXA2R | 95.00 | 0 | NM_001060.5/ interpretable range CS1>95% |
TBXAS1 | 95.00 | 0 | NM_001061.4/ interpretable range CS1>95% |
THBD | 95.00 | 0 | NM_000361.2/ interpretable range CS1>95% |
THPO | 95.00 | 0 | NM_000460.3/ interpretable range CS1>95% |
TPM4 | 95.00 | 0 | NM_001145160.1/ interpretable range CS1>95% |
TUBB1 | 95.00 | 0 | NM_030773.3/ interpretable range CS1>95% |
VIPAS39 | 95.00 | 0 | NM_022067.3/ interpretable range CS1>95% |
VKORC1 | 95.00 | 0 | NM_024006.4/ interpretable range CS1>95% |
VPS33B | 95.00 | 0 | NM_018668.4/ interpretable range CS1>95% |
VWF | 95.00 | 0 | NM_000552.3/ interpretable range CS1>95% |
WAS | 95.00 | 0 | NM_000377.2/ interpretable range CS1>95% |