Primary Ciliary Dyskinesia (61 genes) - KUL
Full name: |
Primary Ciliary Dyskinesia (61 genes) - KUL
|
Description: |
https://firebasestorage.googleapis.com/v0/b/uz-laboboeken.appspot.com/o/GHB_CME%2FPCD%20-%20NGS%20-%20full%20panel.pdf?alt=media&token=52c732f3-8502-4364-9d1b-1f16504426c6
|
Version number: |
Primary_ciliary_dyskinesia_v4
|
Laboratory: | |
Created: |
03 Jul 2019 - 11:16
|
Changed: |
23 Aug 2023 - 11:02
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
CCDC103 | 100.00 | 0 | NM_213607.3 |
CCDC39 | 100.00 | 0 | NM_181426.2 |
CCDC40 | 100.00 | 0 | NM_017950.4 |
CCDC65 | 100.00 | 0 | NM_033124.5 |
CCNO | 100.00 | 0 | NM_021147.5 |
CFAP221 | 100.00 | -2 | |
CFAP251 | 100.00 | 0 | NM_144668.6 |
CFAP298 | 100.00 | 0 | NM_021254.4 |
CFAP300 | 100.00 | 0 | NM_032930.3 |
CFAP45 | 100.00 | 0 | NM_012337.3 |
CFAP53 | 100.00 | 0 | NM_145020.5 |
CFAP57 | 100.00 | 0 | NM_152498.3 |
CFAP74 | 100.00 | 0 | NM_001304360.2 |
DAW1 | 100.00 | -2 | NM_178821.3 |
DNAAF1 | 100.00 | 0 | NM_178452.6 |
DNAAF11 | 100.00 | 0 | NM_012472.6 |
DNAAF2 | 100.00 | 0 | NM_018139.2 |
DNAAF3 | 100.00 | 0 | NM_001256714.1 |
DNAAF4 | 100.00 | 0 | NM_130810.4 |
DNAAF5 | 100.00 | 0 | NM_017802.4 |
DNAAF6 | 100.00 | 0 | NM_001169154.2 |
DNAH11 | 100.00 | 0 | NM_001277115.2 |
DNAH17 | 100.00 | 0 | NM_173628.4 |
DNAH2 | 100.00 | 0 | NM_020877.5 |
DNAH5 | 100.00 | 0 | NM_001369.3 |
DNAH6 | 100.00 | 0 | NM_001370.2 |
DNAH8 | 100.00 | 0 | NM_001206927.2 |
DNAH9 | 100.00 | 0 | NM_031427.4 |
DNAI1 | 100.00 | 0 | NM_012144.4 |
DNAI2 | 100.00 | 0 | NM_023036.5 |
DNAJB13 | 100.00 | 0 | NM_153614.4 |
DNAL1 | 100.00 | -2 | NM_031427.4 |
DRC1 | 100.00 | 0 | NM_145038.5 |
ENKUR | 100.00 | 0 | NM_145010.4 |
FOXJ1 | 100.00 | 0 | NM_001454.4 |
GAS2L2 | 100.00 | 0 | NM_139285.4 |
GAS8 | 100.00 | 0 | NM_001481.3 |
HYDIN | 100.00 | 0 | NM_001270974.2 |
LRRC56 | 100.00 | 0 | NM_198075.4 |
MCIDAS | 100.00 | 0 | NM_001190787.3 |
MNS1 | 100.00 | 0 | NM_018365.4 |
NEK10 | 100.00 | 0 | NM_199347.4 |
NME5 | 100.00 | 0 | NM_003551.3 |
NME8 | 100.00 | 0 | NM_016616.5 |
ODAD1 | 100.00 | 0 | NM_144577.4 |
ODAD2 | 100.00 | 0 | NM_018076.5 |
ODAD3 | 100.00 | 0 | NM_145045.5 |
ODAD4 | 100.00 | 0 | NM_031421.5 |
OFD1 | 100.00 | 0 | NM_003611.3 |
RPGR | 100.00 | 0 | NM_000328.3 |
RSPH1 | 100.00 | 0 | NM_080860.4 |
RSPH3 | 100.00 | 0 | NM_031924.8 |
RSPH4A | 100.00 | 0 | NM_001010892.3 |
RSPH9 | 100.00 | 0 | NM_152732.5 |
SPAG1 | 100.00 | 0 | NM_172218.3 |
SPEF2 | 100.00 | 0 | NM_024867.4 |
STK36 | 100.00 | 0 | NM_015690.5 |
TEKT1 | 100.00 | 0 | NM_053285.2 |
TP73 | 100.00 | 0 | NM_005427.4 |
TTC12 | 100.00 | 0 | NM_017868.4 |
ZMYND10 | 100.00 | 0 | NM_015896.4 |